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AHRR aryl hydrocarbon receptor repressor [ Homo sapiens (human) ]

Gene ID: 57491, updated on 5-Mar-2024

Summary

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Official Symbol
AHRRprovided by HGNC
Official Full Name
aryl hydrocarbon receptor repressorprovided by HGNC
Primary source
HGNC:HGNC:346
See related
Ensembl:ENSG00000063438 MIM:606517; AllianceGenome:HGNC:346
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
AHH; AHHR; bHLHe77
Summary
The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]
Expression
Broad expression in testis (RPKM 4.1), spleen (RPKM 2.9) and 21 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
5p15.33
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (321714..438285)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (312595..433546)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (321829..438400)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:270110-270802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15861 Neighboring gene PDCD6-AHRR readthrough (NMD candidate) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:278988-279488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:279489-279989 Neighboring gene PDCD6 divergent transcript Neighboring gene programmed cell death 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:295122-295292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:296594-297122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:297123-297651 Neighboring gene PPP4R2 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:301361-301866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:301867-302372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:306908-307792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15863 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:322065-322632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22273 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:372826-373456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15868 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15869 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22281 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:399561-400760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15871 Neighboring gene mitochondrial translational initiation factor 3 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85003 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85008 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85009 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85011 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85012 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85017 Neighboring gene AHRR intron CAGE-defined high expression enhancer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85030 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:415251-415804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22288 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22291 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15872 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22293 Neighboring gene uncharacterized LOC124900930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22294 Neighboring gene EXOC3 antisense RNA 1 Neighboring gene exocyst complex component 3

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. Development and validation of a simple general population lung cancer risk model including AHRR-methylation. Jacobsen KK, et al. Lung Cancer, 2023 Jul. PMID 37150141
  2. From Differential DNA Methylation in COPD to Mitochondria: Regulation of AHRR Expression Affects Airway Epithelial Response to Cigarette Smoke. Chen Q, et al. Cells, 2022 Oct 29. PMID 36359818, Free PMC Article
  3. AhRR methylation contributes to disease progression in urothelial bladder cancer. El-Haddad NW, et al. Cancer Biomark, 2022. PMID 36093686, Free PMC Article
  4. The association between DNA methylation of 6p21.33 and AHRR in blood and coronary heart disease in Chinese population. Zhu L, et al. BMC Cardiovasc Disord, 2022 Aug 13. PMID 35964014, Free PMC Article
  5. AHRR (cg05575921) Methylation Safely Improves Specificity of Lung Cancer Screening Eligibility Criteria: A Cohort Study. Jacobsen KK, et al. Cancer Epidemiol Biomarkers Prev, 2022 Apr 1. PMID 35064064

See all (96) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Influence of Smoking and Occupational Risk Factors on DNA Methylation in the AHRR and F2RL3 Genes.
    Title: The Influence of Smoking and Occupational Risk Factors on DNA Methylation in the AHRR and F2RL3 Genes.
  2. Blood Leukocyte AHRR Methylation and Risk of Non-smoking-associated Cancer: A Case-cohort Study of Non-Hodgkin Lymphoma.
    Title: Blood Leukocyte AHRR Methylation and Risk of Non-smoking-associated Cancer: A Case-cohort Study of Non-Hodgkin Lymphoma.
  3. AhRR and PPP1R3C: Potential Prognostic Biomarkers for Serous Ovarian Cancer.
    Title: AhRR and PPP1R3C: Potential Prognostic Biomarkers for Serous Ovarian Cancer.
  4. Development and validation of a simple general population lung cancer risk model including AHRR-methylation.
    Title: Development and validation of a simple general population lung cancer risk model including AHRR-methylation.
  5. From Differential DNA Methylation in COPD to Mitochondria: Regulation of AHRR Expression Affects Airway Epithelial Response to Cigarette Smoke.
    Title: From Differential DNA Methylation in COPD to Mitochondria: Regulation of AHRR Expression Affects Airway Epithelial Response to Cigarette Smoke.
  6. AhRR methylation contributes to disease progression in urothelial bladder cancer.
    Title: AhRR methylation contributes to disease progression in urothelial bladder cancer.
  7. The association between DNA methylation of 6p21.33 and AHRR in blood and coronary heart disease in Chinese population.
    Title: The association between DNA methylation of 6p21.33 and AHRR in blood and coronary heart disease in Chinese population.
  8. The Contribution of Genetic Variation and Aberrant Methylation of Aryl Hydrocarbon Receptor Signaling Pathway Genes to Rheumatoid Arthritis.
    Title: The Contribution of Genetic Variation and Aberrant Methylation of Aryl Hydrocarbon Receptor Signaling Pathway Genes to Rheumatoid Arthritis.
  9. AHRR (cg05575921) Methylation Safely Improves Specificity of Lung Cancer Screening Eligibility Criteria: A Cohort Study.
    Title: AHRR (cg05575921) Methylation Safely Improves Specificity of Lung Cancer Screening Eligibility Criteria: A Cohort Study.
  10. Epigenetic Biomarkers of Prenatal Tobacco Smoke Exposure Are Associated with Gene Deletions in Childhood Acute Lymphoblastic Leukemia.
    Title: Epigenetic Biomarkers of Prenatal Tobacco Smoke Exposure Are Associated with Gene Deletions in Childhood Acute Lymphoblastic Leukemia.
Submit: New GeneRIF Correction See all GeneRIFs (79)

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
Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.
EBI GWAS Catalog
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
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

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

Readthrough PDCD6-AHRR

Readthrough gene: PDCD6-AHRR, Included gene: PDCD6

Homology

Clone Names

  • KIAA1234, MGC167813, MGC176630

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables nuclear receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
enables transcription cis-regulatory region binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in intracellular receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in xenobiotic metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
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 cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
aryl hydrocarbon receptor repressor
Names
ahR repressor
aryl hydrocarbon hydroxylase regulator
class E basic helix-loop-helix protein 77
dioxin receptor repressor

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.

Genomic

  1. NG_029834.2 RefSeqGene

    Range
    5001..139116
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001377236.1 → NP_001364165.1  aryl hydrocarbon receptor repressor

    Status: REVIEWED

    Source sequence(s)
    AC010442, AC118458
    Consensus CDS
    CCDS93682.1
    UniProtKB/Swiss-Prot
    A7MBN5, A9YTQ3, D6RAZ1, Q9HAZ3, Q9ULI6
    UniProtKB/TrEMBL
    A0A7I2PK40
    Related
    ENSP00000507476.1, ENST00000684583.1
    Conserved Domains (2) summary
    smart00091
    Location:113 → 176
    PAS; PAS domain
    cd11435
    Location:26 → 85
    bHLH-PAS_AhRR; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor repressor (AhRR) and similar proteins

  2. NM_001377239.1 → NP_001364168.1  aryl hydrocarbon receptor repressor

    Status: REVIEWED

    Source sequence(s)
    AC010442, AC118458
    Consensus CDS
    CCDS93682.1
    UniProtKB/Swiss-Prot
    A7MBN5, A9YTQ3, D6RAZ1, Q9HAZ3, Q9ULI6
    UniProtKB/TrEMBL
    A0A7I2PK40
    Related
    ENSP00000323816.6, ENST00000316418.10
    Conserved Domains (2) summary
    smart00091
    Location:113 → 176
    PAS; PAS domain
    cd11435
    Location:26 → 85
    bHLH-PAS_AhRR; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor repressor (AhRR) and similar proteins

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    321714..438285
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    312595..433546
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001242412.1: Suppressed sequence

    Description
    NM_001242412.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein. The transcript is incomplete at the 5' end.

  2. NM_020731.4: Suppressed sequence

    Description
    NM_020731.4: This RefSeq was removed because currently there is insufficient support for the transcript and the protein. The transcript is incomplete at the 5' end.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A9YTQ3.3 GenPept UniProtKB/Swiss-Prot:A9YTQ3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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