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BTBD8 BTB domain containing 8 [ Homo sapiens (human) ]

Gene ID: 284697, updated on 3-Apr-2024

Summary

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Official Symbol
BTBD8provided by HGNC
Official Full Name
BTB domain containing 8provided by HGNC
Primary source
HGNC:HGNC:21019
See related
Ensembl:ENSG00000189195 MIM:617945; AllianceGenome:HGNC:21019
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KIAA1107
Summary
Predicted to be involved in clathrin-dependent synaptic vesicle endocytosis; neuron projection development; and synaptic vesicle budding from endosome. Located in nucleoplasm. Colocalizes with AP-2 adaptor complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 1.4), brain (RPKM 1.1) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
1p22.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (92080345..92184723)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (91925186..92029580)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (92545902..92650280)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene lysophosphatidylcholine acyltransferase 2b, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:92547175-92547842 Neighboring gene SET like protein Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 46 Neighboring gene protein kinase cAMP-dependent type I regulatory subunit alpha pseudogene 1 Neighboring gene zinc finger protein 510 pseudogene Neighboring gene chromosome 1 open reading frame 146 Neighboring gene ACTB pseudogene 12

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. Molecular cloning and characterization of a novel human BTBD8 gene containing double BTB/POZ domains. Xu J, et al. Int J Mol Med, 2004 Jan. PMID 14654994
  2. APache Is an AP2-Interacting Protein Involved in Synaptic Vesicle Trafficking and Neuronal Development. Piccini A, et al. Cell Rep, 2017 Dec 19. PMID 29262337
  3. Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity. Chatrathi HE, et al. Hypertension, 2022 Jan. PMID 34878901, Free PMC Article
  4. mTOR Inhibition via Rapamycin Treatment Partially Reverts the Deficit in Energy Metabolism Caused by FH Loss in RPE Cells. Merle DA, et al. Antioxidants (Basel), 2021 Dec 3. PMID 34943047, Free PMC Article
  5. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Kikuno R, et al. DNA Res, 1999 Jun 30. PMID 10470851

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. expression pattern of BTBD8 shows it may have a function related to brain development
    Title: Molecular cloning and characterization of a novel human BTBD8 gene containing double BTB/POZ domains.
Submit: New GeneRIF Correction

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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ54894, KIAA1107

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of AP-2 adaptor complex IEA
Inferred from Electronic Annotation
more info
  
located_in axon IEA
Inferred from Electronic Annotation
more info
  
located_in neuron projection terminus IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in synaptic vesicle IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
BTB/POZ domain-containing protein 8
Names
AP2-interacting clathrin-endocytosis protein
APache
BTB (POZ) domain containing 8
BTB domain protein
double BTB/POZ domain containing protein

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_001376131.1 → NP_001363060.1  BTB/POZ domain-containing protein 8 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC104836
    Consensus CDS
    CCDS91000.1
    UniProtKB/Swiss-Prot
    A0A1B0GUL6, A0A1B0GWG1, O14767, Q5XKL5, Q6V9S5, Q8N3X7, Q9UPP5
    UniProtKB/TrEMBL
    A0A291NFE5
    Related
    ENSP00000490161.1, ENST00000636805.2
    Conserved Domains (5) summary
    cd18285
    Location:43 → 147
    BTB1_POZ_BTBD8; first BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 8 (BTBD8)
    cd18286
    Location:189 → 309
    BTB2_POZ_BTBD8; second BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 8 (BTBD8)
    cd18490
    Location:316 → 378
    BACK_BTBD8; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 8 (BTBD8)
    pfam15363
    Location:1749 → 1792
    DUF4596; Domain of unknown function (DUF4596)
    cl28903
    Location:396 → 451
    BACK; BACK (BTB and C-terminal Kelch) domain

  2. NM_015237.4 → NP_056052.3  BTB/POZ domain-containing protein 8 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AB029030, AC104836, AK302496, R45515
    Consensus CDS
    CCDS44172.2
    UniProtKB/TrEMBL
    A0A8V8SD95, E9PEZ5
    Related
    ENSP00000490913.1, ENST00000637221.2
    Conserved Domains (1) summary
    pfam15363
    Location:1236 → 1279
    DUF4596; Domain of unknown function (DUF4596)

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    92080345..92184723
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418461.1 → XP_047274417.1  BTB/POZ domain-containing protein 8 isoform X1

  2. XM_047418464.1 → XP_047274420.1  BTB/POZ domain-containing protein 8 isoform X2

  3. XM_047418466.1 → XP_047274422.1  BTB/POZ domain-containing protein 8 isoform X3

  4. XM_047418474.1 → XP_047274430.1  BTB/POZ domain-containing protein 8 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    91925186..92029580
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336144.1 → XP_054192119.1  BTB/POZ domain-containing protein 8 isoform X2

  2. XM_054336145.1 → XP_054192120.1  BTB/POZ domain-containing protein 8 isoform X3

  3. XM_054336143.1 → XP_054192118.1  BTB/POZ domain-containing protein 8 isoform X1

  4. XM_054336147.1 → XP_054192122.1  BTB/POZ domain-containing protein 8 isoform X4

  5. XM_054336146.1 → XP_054192121.1  BTB/POZ domain-containing protein 8 isoform X5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_183242.4: Suppressed sequence

    Description
    NM_183242.4: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5XKL5.3 GenPept UniProtKB/Swiss-Prot:Q5XKL5

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