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BMAL1 basic helix-loop-helix ARNT like 1 [ Homo sapiens (human) ]

Gene ID: 406, updated on 3-Apr-2024

Summary

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Official Symbol
BMAL1provided by HGNC
Official Full Name
basic helix-loop-helix ARNT like 1provided by HGNC
Primary source
HGNC:HGNC:701
See related
Ensembl:ENSG00000133794 MIM:602550; AllianceGenome:HGNC:701
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TIC; JAP3; MOP3; ARNTL; PASD3; ARNTL1; BMAL1c; bHLHe5
Summary
The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. The protein regulates interferon-stimulated gene expression and is an important factor in viral infection, including COVID-19. [provided by RefSeq, Oct 2021]
Annotation information
Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Expression
Ubiquitous expression in adrenal (RPKM 8.3), skin (RPKM 6.7) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See BMAL1 in Genome Data Viewer
Location:
11p15.3
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (13276652..13387266)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (13369378..13480010)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (13298199..13408813)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:13132777-13133277 Neighboring gene uncharacterized LOC124902635 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:13142147-13142764 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:13228795-13229352 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:13282544-13283743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3167 Neighboring gene Sharpr-MPRA regulatory region 3016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4463 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:13362823-13363323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4464 Neighboring gene uncharacterized LOC124902636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:13379341-13379905 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:13385691-13386451 Neighboring gene RN7SK pseudogene 151 Neighboring gene BTB domain containing 10 Neighboring gene uncharacterized LOC124902846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4465 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:13493470-13494035 Neighboring gene PTH promoter region Neighboring gene parathyroid hormone

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Artificial induction of circadian rhythm by combining exogenous BMAL1 expression and polycomb repressive complex 2 inhibition in human induced pluripotent stem cells. Kaneko H, et al. Cell Mol Life Sci, 2023 Jul 8. PMID 37421441
  2. Protective effects of brain and muscle ARNT-like gene 1 on oxidized low-density lipoprotein-induced human brain microvascular endothelial cell injury by alleviating ferroptosis. Yu S, et al. Hum Exp Toxicol, 2023 Jan-Dec. PMID 37343012
  3. Bmal1 and Gut-lung axis in SARS-CoV-2 infection: New insight into the effects of melatonin on COVID-19 patients? Khezri MR, et al. Biomed Pharmacother, 2023 Aug. PMID 37257225, Free PMC Article
  4. Is BMAL1 Just One Song Impacting the Circadian Dance of Lung Injury? Stewart NH, et al. Am J Respir Crit Care Med, 2023 Jun 15. PMID 36731052, Free PMC Article
  5. Melatonin upregulates BMAL1 to attenuate chronic sleep deprivation-related cognitive impairment by alleviating oxidative stress. Hu Y, et al. Brain Behav, 2023 Jan. PMID 36563187, Free PMC Article

See all (247) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Melatonin ameliorates hepatic fibrosis via the melatonin receptor 2-mediated upregulation of BMAL1 and anti-oxidative enzymes.
    Title: Melatonin ameliorates hepatic fibrosis via the melatonin receptor 2-mediated upregulation of BMAL1 and anti-oxidative enzymes.
  2. BMAL1 positively correlates with genes regulating steroidogenesis in human luteinized granulosa cells.
    Title: BMAL1 positively correlates with genes regulating steroidogenesis in human luteinized granulosa cells.
  3. The clock gene Bmal1 controls inflammatory mediators in rheumatoid arthritis fibroblast-like synoviocytes.
    Title: The clock gene Bmal1 controls inflammatory mediators in rheumatoid arthritis fibroblast-like synoviocytes.
  4. Role of Bmal1 and Gut Microbiota in Alzheimer's Disease and Parkinson's Disease Pathophysiology: The Probable Effect of Melatonin on Their Association.
    Title: Role of Bmal1 and Gut Microbiota in Alzheimer's Disease and Parkinson's Disease Pathophysiology: The Probable Effect of Melatonin on Their Association.
  5. Circadian gene ARNTL initiates circGUCY1A2 transcription to suppress non-small cell lung cancer progression via miR-200c-3p/PTEN signaling.
    Title: Circadian gene ARNTL initiates circGUCY1A2 transcription to suppress non-small cell lung cancer progression via miR-200c-3p/PTEN signaling.
  6. New insights into the mechanisms of diabetic kidney disease: Role of circadian rhythm and Bmal1.
    Title: New insights into the mechanisms of diabetic kidney disease: Role of circadian rhythm and Bmal1.
  7. Association of BMAL1 clock gene polymorphisms with fasting glucose in children.
    Title: Association of BMAL1 clock gene polymorphisms with fasting glucose in children.
  8. Artificial induction of circadian rhythm by combining exogenous BMAL1 expression and polycomb repressive complex 2 inhibition in human induced pluripotent stem cells.
    Title: Artificial induction of circadian rhythm by combining exogenous BMAL1 expression and polycomb repressive complex 2 inhibition in human induced pluripotent stem cells.
  9. Bmal1 and Gut-lung axis in SARS-CoV-2 infection: New insight into the effects of melatonin on COVID-19 patients?
    Title: Bmal1 and Gut-lung axis in SARS-CoV-2 infection: New insight into the effects of melatonin on COVID-19 patients?
  10. Protective effects of brain and muscle ARNT-like gene 1 on oxidized low-density lipoprotein-induced human brain microvascular endothelial cell injury by alleviating ferroptosis.
    Title: Protective effects of brain and muscle ARNT-like gene 1 on oxidized low-density lipoprotein-induced human brain microvascular endothelial cell injury by alleviating ferroptosis.
Submit: New GeneRIF Correction See all GeneRIFs (175)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.
EBI GWAS Catalog
Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci.
EBI GWAS Catalog
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
EBI GWAS Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
EBI GWAS Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of aryl hydrocarbon receptor nuclear translocator-like (ARNTL) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC47515

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
  
enables DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables E-box binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables Hsp90 protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables aryl hydrocarbon receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
enables sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription cis-regulatory region binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in circadian regulation of gene expression IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in circadian regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in circadian rhythm IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of TOR signaling ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in negative regulation of fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of glucocorticoid receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in oxidative stress-induced premature senescence ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of canonical Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of circadian rhythm IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of circadian rhythm ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of protein acetylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of skeletal muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of cellular senescence ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of hair cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of insulin secretion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of type B pancreatic cell development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to redox state IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
part_of CLOCK-BMAL transcription complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in PML body IEA
Inferred from Electronic Annotation
more info
  
part_of aryl hydrocarbon receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in chromatoid body ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
basic helix-loop-helix ARNT-like protein 1
Names
ARNT-like protein 1, brain and muscle
PAS domain containing 3
PAS domain-containing protein 3
aryl hydrocarbon receptor nuclear translocator like
aryl hydrocarbon receptor nuclear translocator-like protein 1
bHLH-PAS protein JAP3
basic helix-loop-helix family member e5
basic-helix-loop-helix-PAS orphan MOP3
basic-helix-loop-helix-PAS protein MOP3
brain and muscle ARNT-like 1
class E basic helix-loop-helix protein 5
member of PAS protein 3
member of PAS superfamily 3
mutant basic helix-loop-helix ARNT-like protein 1
testis tissue sperm-binding protein Li 50e

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001030272.3 → NP_001025443.1  basic helix-loop-helix ARNT-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_001025443.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 4. The resulting isoform (a) is 1 aa shorter compared to isoform c. Variants 1, 2, 10, and 11 all encode isoform a.
    Source sequence(s)
    AK291510, BC041129, BE391243
    UniProtKB/TrEMBL
    A0A140VKD3, B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:149 → 208
    PAS; PAS domain
    cd11438
    Location:67 → 130
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:338 → 440
    PAS_11; PAS domain

  2. NM_001030273.3 → NP_001025444.1  basic helix-loop-helix ARNT-like protein 1 isoform b

    See identical proteins and their annotated locations for NP_001025444.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, contains an alternate exon, and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 4. The resulting isoform (b) has a shorter and distinct N-terminus and lacks an alternate internal aa compared to isoform c. Variants 3 and 22 both encode isoform b.
    Source sequence(s)
    AF044288, AK095749, BE391243
    Consensus CDS
    CCDS44543.1
    UniProtKB/TrEMBL
    B2RCL8
    Related
    ENSP00000385915.2, ENST00000401424.6
    Conserved Domains (3) summary
    smart00091
    Location:106 → 165
    PAS; PAS domain
    cd11438
    Location:24 → 87
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:295 → 397
    PAS_11; PAS domain

  3. NM_001178.6 → NP_001169.3  basic helix-loop-helix ARNT-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_001169.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 4. The resulting isoform (a) is 1 aa shorter compared to isoform c. Variants 1, 2, 10, and 11 all encode isoform a.
    Source sequence(s)
    BC041129, BE391243
    UniProtKB/TrEMBL
    A0A140VKD3, B2RCL8
    Related
    ENSP00000374357.4, ENST00000389707.8
    Conserved Domains (3) summary
    smart00091
    Location:149 → 208
    PAS; PAS domain
    cd11438
    Location:67 → 130
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:338 → 440
    PAS_11; PAS domain

  4. NM_001297719.2 → NP_001284648.1  basic helix-loop-helix ARNT-like protein 1 isoform c

    See identical proteins and their annotated locations for NP_001284648.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes isoform c. Variants 4, 5, and 9 all encode the same isoform (c).
    Source sequence(s)
    AC016884, AF044288, AK315174, BE391243
    Consensus CDS
    CCDS73259.1
    UniProtKB/Swiss-Prot
    A2I2N6, A8K645, B5ME11, B7WPG7, D3DQW6, O00313, O00314, O00315, O00316, O00317, O00327, Q4G136, Q8IUT4, Q99631, Q99649
    UniProtKB/TrEMBL
    B2RCL8
    Related
    ENSP00000384517.1, ENST00000403290.6
    Conserved Domains (3) summary
    smart00091
    Location:149 → 208
    PAS; PAS domain
    cd11438
    Location:67 → 130
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:339 → 441
    PAS_11; PAS domain

  5. NM_001297722.2 → NP_001284651.1  basic helix-loop-helix ARNT-like protein 1 isoform c

    See identical proteins and their annotated locations for NP_001284651.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 4. Variants 4, 5, and 9 all encode the same isoform (c).
    Source sequence(s)
    AF044288, AK291510, BE391243
    Consensus CDS
    CCDS73259.1
    UniProtKB/Swiss-Prot
    A2I2N6, A8K645, B5ME11, B7WPG7, D3DQW6, O00313, O00314, O00315, O00316, O00317, O00327, Q4G136, Q8IUT4, Q99631, Q99649
    UniProtKB/TrEMBL
    B2RCL8
    Related
    ENSP00000385581.4, ENST00000403510.8
    Conserved Domains (3) summary
    smart00091
    Location:149 → 208
    PAS; PAS domain
    cd11438
    Location:67 → 130
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:339 → 441
    PAS_11; PAS domain

  6. NM_001297724.2 → NP_001284653.1  basic helix-loop-helix ARNT-like protein 1 isoform d

    See identical proteins and their annotated locations for NP_001284653.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and contains an alternate exon compared to variant 4. The resulting isoform (d) has a shorter and distinct N-terminus compared to isoform c. Variants 6, 17, 18, 19, 20, and 21 all encode the same isoform (d).
    Source sequence(s)
    BC031214, BE391243
    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:106 → 165
    PAS; PAS domain
    cd11438
    Location:24 → 87
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:296 → 398
    PAS_11; PAS domain

  7. NM_001351804.1 → NP_001338733.1  basic helix-loop-helix ARNT-like protein 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 1, 2, and 11, encodes isoform a.
    Source sequence(s)
    AC016884, AC022878
    UniProtKB/TrEMBL
    A0A140VKD3, B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:149 → 208
    PAS; PAS domain
    cd11438
    Location:67 → 130
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:338 → 440
    PAS_11; PAS domain

  8. NM_001351805.2 → NP_001338734.1  basic helix-loop-helix ARNT-like protein 1 isoform g

    Status: REVIEWED

    Source sequence(s)
    AC016884, AC022878
    UniProtKB/TrEMBL
    B2RCL8
    Related
    ENSP00000385897.3, ENST00000403482.7
    Conserved Domains (3) summary
    smart00091
    Location:136 → 195
    PAS; PAS domain
    pfam00010
    Location:61 → 113
    HLH; Helix-loop-helix DNA-binding domain
    cl25986
    Location:326 → 428
    PAS_3; PAS fold

  9. NM_001351806.2 → NP_001338735.1  basic helix-loop-helix ARNT-like protein 1 isoform h

    Status: REVIEWED

    Source sequence(s)
    AC016884, AC022878
    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:136 → 195
    PAS; PAS domain
    pfam00010
    Location:61 → 113
    HLH; Helix-loop-helix DNA-binding domain
    cl25986
    Location:325 → 427
    PAS_3; PAS fold

  10. NM_001351807.2 → NP_001338736.1  basic helix-loop-helix ARNT-like protein 1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variant 7, encodes isoform e.
    Source sequence(s)
    AC016884, AC022878
    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:149 → 208
    PAS; PAS domain
    cd11438
    Location:67 → 130
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:339 → 441
    PAS_11; PAS domain

  11. NM_001351808.2 → NP_001338737.1  basic helix-loop-helix ARNT-like protein 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17), as well as variants 6, 18, 19, 20, and 21, encodes isoform d.
    Source sequence(s)
    AC016884, AC022878
    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:106 → 165
    PAS; PAS domain
    cd11438
    Location:24 → 87
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:296 → 398
    PAS_11; PAS domain

  12. NM_001351809.2 → NP_001338738.1  basic helix-loop-helix ARNT-like protein 1 isoform i

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15), as well as variant 16, encodes isoform i.
    Source sequence(s)
    AC016884, AC022878
    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:132 → 191
    PAS; PAS domain
    cd11438
    Location:50 → 113
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:322 → 424
    PAS_11; PAS domain

  13. NM_001351810.2 → NP_001338739.1  basic helix-loop-helix ARNT-like protein 1 isoform k

    Status: REVIEWED

    Description
    Transcript Variant: This variant (29), as well as variant 30, encodes isoform k.
    Source sequence(s)
    AC016884, AC022878
    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:149 → 208
    PAS; PAS domain
    pfam00010
    Location:74 → 126
    HLH; Helix-loop-helix DNA-binding domain
    cl25986
    Location:272 → 323
    PAS_3; PAS fold

  14. NM_001351811.2 → NP_001338740.1  basic helix-loop-helix ARNT-like protein 1 isoform m

    Status: REVIEWED

    Source sequence(s)
    AC016884, AC022878
    Conserved Domains (1) summary
    pfam14598
    Location:89 → 191
    PAS_11; PAS domain

  15. NM_001351812.2 → NP_001338741.1  basic helix-loop-helix ARNT-like protein 1 isoform i

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16), as well as variant 15, encodes isoform i.
    Source sequence(s)
    AC016884, AC022878
    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:132 → 191
    PAS; PAS domain
    cd11438
    Location:50 → 113
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:322 → 424
    PAS_11; PAS domain

  16. NM_001351813.2 → NP_001338742.1  basic helix-loop-helix ARNT-like protein 1 isoform j

    Status: REVIEWED

    Source sequence(s)
    AC016884, AC022878
    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:106 → 165
    PAS; PAS domain
    cd11438
    Location:24 → 87
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:295 → 397
    PAS_11; PAS domain

  17. NM_001351814.2 → NP_001338743.1  basic helix-loop-helix ARNT-like protein 1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 8, encodes isoform e.
    Source sequence(s)
    AC016884, AC022878
    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:149 → 208
    PAS; PAS domain
    cd11438
    Location:67 → 130
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:339 → 441
    PAS_11; PAS domain

  18. NM_001351815.2 → NP_001338744.1  basic helix-loop-helix ARNT-like protein 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variants 1, 2, and 10, encodes isoform a.
    Source sequence(s)
    AC016884, AC022878
    UniProtKB/TrEMBL
    A0A140VKD3, B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:149 → 208
    PAS; PAS domain
    cd11438
    Location:67 → 130
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:338 → 440
    PAS_11; PAS domain

  19. NM_001351816.2 → NP_001338745.1  basic helix-loop-helix ARNT-like protein 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (18), as well as variants 6, 17, 19, 20, and 21, encodes isoform d.
    Source sequence(s)
    AC016884, AC022878
    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:106 → 165
    PAS; PAS domain
    cd11438
    Location:24 → 87
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:296 → 398
    PAS_11; PAS domain

  20. NM_001351817.2 → NP_001338746.1  basic helix-loop-helix ARNT-like protein 1 isoform k

    Status: REVIEWED

    Description
    Transcript Variant: This variant (30), as well as variant 29, encodes isoform k (also called isoform l).
    Source sequence(s)
    AC016884, AC022878
    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:149 → 208
    PAS; PAS domain
    pfam00010
    Location:74 → 126
    HLH; Helix-loop-helix DNA-binding domain
    cl25986
    Location:272 → 323
    PAS_3; PAS fold

  21. NM_001351818.2 → NP_001338747.1  basic helix-loop-helix ARNT-like protein 1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (22), as well as variant 3, encodes isoform b.
    Source sequence(s)
    AC016884, AC022878
    Consensus CDS
    CCDS44543.1
    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:106 → 165
    PAS; PAS domain
    cd11438
    Location:24 → 87
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:295 → 397
    PAS_11; PAS domain

  22. NM_001351819.2 → NP_001338748.1  basic helix-loop-helix ARNT-like protein 1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC016884, AC022878
    Consensus CDS
    CCDS91444.1
    UniProtKB/TrEMBL
    A0A669KBF4, B2RCL8
    Related
    ENSP00000501212.1, ENST00000673817.1
    Conserved Domains (3) summary
    smart00091
    Location:149 → 208
    PAS; PAS domain
    cd11438
    Location:67 → 130
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:338 → 440
    PAS_11; PAS domain

  23. NM_001351820.2 → NP_001338749.1  basic helix-loop-helix ARNT-like protein 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19), as well as variants 6, 17, 18, 20 and 21, encodes isoform d.
    Source sequence(s)
    AC016884, AC022878
    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:106 → 165
    PAS; PAS domain
    cd11438
    Location:24 → 87
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:296 → 398
    PAS_11; PAS domain

  24. NM_001351821.2 → NP_001338750.1  basic helix-loop-helix ARNT-like protein 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (20), as well as variants 6, 17, 18, 19, and 21, encodes isoform d.
    Source sequence(s)
    AC016884, AC022878
    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:106 → 165
    PAS; PAS domain
    cd11438
    Location:24 → 87
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:296 → 398
    PAS_11; PAS domain

  25. NM_001351822.2 → NP_001338751.1  basic helix-loop-helix ARNT-like protein 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (21), as well as variants 6, 17, 18, 19, and 20, encodes isoform d.
    Source sequence(s)
    AC016884, AC022878
    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:106 → 165
    PAS; PAS domain
    cd11438
    Location:24 → 87
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:296 → 398
    PAS_11; PAS domain

  26. NM_001351823.2 → NP_001338752.1  basic helix-loop-helix ARNT-like protein 1 isoform n

    Status: REVIEWED

    Source sequence(s)
    AC016884, AC022878
    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:106 → 165
    PAS; PAS domain
    cd11438
    Location:24 → 87
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:296 → 398
    PAS_11; PAS domain

  27. NM_001351824.2 → NP_001338753.1  basic helix-loop-helix ARNT-like protein 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 4 and 5, encodes isoform c.
    Source sequence(s)
    AC016884, AC022878
    Consensus CDS
    CCDS73259.1
    UniProtKB/Swiss-Prot
    A2I2N6, A8K645, B5ME11, B7WPG7, D3DQW6, O00313, O00314, O00315, O00316, O00317, O00327, Q4G136, Q8IUT4, Q99631, Q99649
    UniProtKB/TrEMBL
    B2RCL8
    Related
    ENSP00000433571.2, ENST00000529388.6
    Conserved Domains (3) summary
    smart00091
    Location:149 → 208
    PAS; PAS domain
    cd11438
    Location:67 → 130
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:339 → 441
    PAS_11; PAS domain

RNA

  1. NR_147785.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016884, AC022878

  2. NR_147786.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016884, AC022878

  3. NR_147787.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016884, AC022878

  4. NR_147788.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016884, AC022878

  5. NR_147789.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016884, AC022878

  6. NR_147790.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016884, AC022878
    Related
    ENST00000673626.1

  7. NR_147791.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016884, AC022878
    Related
    ENST00000673892.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    13276652..13387266
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017738.3 → XP_016873227.1  basic helix-loop-helix ARNT-like protein 1 isoform X1

    UniProtKB/TrEMBL
    B2RCL8

  2. XM_017017739.3 → XP_016873228.1  basic helix-loop-helix ARNT-like protein 1 isoform X3

    UniProtKB/TrEMBL
    B2RCL8

  3. XM_011520105.4 → XP_011518407.2  basic helix-loop-helix ARNT-like protein 1 isoform X2

    UniProtKB/TrEMBL
    B2RCL8

  4. XM_011520107.4 → XP_011518409.2  basic helix-loop-helix ARNT-like protein 1 isoform X4

    UniProtKB/TrEMBL
    B2RCL8

  5. XM_047426957.1 → XP_047282913.1  basic helix-loop-helix ARNT-like protein 1 isoform X8

  6. XM_047426958.1 → XP_047282914.1  basic helix-loop-helix ARNT-like protein 1 isoform X9

  7. XM_047426953.1 → XP_047282909.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

  8. XM_047426952.1 → XP_047282908.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

  9. XM_047426955.1 → XP_047282911.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

  10. XM_047426954.1 → XP_047282910.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

  11. XM_011520109.2 → XP_011518411.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

    See identical proteins and their annotated locations for XP_011518411.1

    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:149 → 208
    PAS; PAS domain
    cd11438
    Location:67 → 130
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:339 → 441
    PAS_11; PAS domain

  12. XM_017017741.2 → XP_016873230.1  basic helix-loop-helix ARNT-like protein 1 isoform X6

    UniProtKB/TrEMBL
    A0A669KBF4, B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:149 → 208
    PAS; PAS domain
    cd11438
    Location:67 → 130
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:338 → 440
    PAS_11; PAS domain

  13. XM_047426956.1 → XP_047282912.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

  14. XM_024448522.1 → XP_024304290.1  basic helix-loop-helix ARNT-like protein 1 isoform X7

    UniProtKB/TrEMBL
    B2RCL8
    Conserved Domains (3) summary
    smart00091
    Location:132 → 191
    PAS; PAS domain
    cd11438
    Location:50 → 113
    bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
    pfam14598
    Location:322 → 424
    PAS_11; PAS domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    13369378..13480010
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368794.1 → XP_054224769.1  basic helix-loop-helix ARNT-like protein 1 isoform X1

  2. XM_054368796.1 → XP_054224771.1  basic helix-loop-helix ARNT-like protein 1 isoform X3

  3. XM_054368795.1 → XP_054224770.1  basic helix-loop-helix ARNT-like protein 1 isoform X2

  4. XM_054368797.1 → XP_054224772.1  basic helix-loop-helix ARNT-like protein 1 isoform X4

  5. XM_054368805.1 → XP_054224780.1  basic helix-loop-helix ARNT-like protein 1 isoform X8

  6. XM_054368806.1 → XP_054224781.1  basic helix-loop-helix ARNT-like protein 1 isoform X9

  7. XM_054368800.1 → XP_054224775.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

  8. XM_054368799.1 → XP_054224774.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

  9. XM_054368802.1 → XP_054224777.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

  10. XM_054368801.1 → XP_054224776.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

  11. XM_054368798.1 → XP_054224773.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

  12. XM_054368803.1 → XP_054224778.1  basic helix-loop-helix ARNT-like protein 1 isoform X6

    UniProtKB/TrEMBL
    A0A669KBF4

  13. XM_054368804.1 → XP_054224779.1  basic helix-loop-helix ARNT-like protein 1 isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00327.2 GenPept UniProtKB/Swiss-Prot:O00327

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