Format

Send to:

Choose Destination

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

Gene ID: 284697, updated on 6-May-2021

Summary

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
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
Expression
Broad expression in testis (RPKM 1.4), brain (RPKM 1.1) and 24 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See BTBD8 in Genome Data Viewer
Location:
1p22.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (92080345..92188509)
105.20201022 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 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

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ54894, KIAA1107

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in clathrin-dependent synaptic vesicle endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in synaptic vesicle recycling via endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in neuron projection terminus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in presynapse ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in synaptic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

    Status: VALIDATED

    Source sequence(s)
    AC104836
    Related
    ENSP00000490161.1, ENST00000636805.2
    Conserved Domains (5) summary
    cd18285
    Location:43147
    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:189309
    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:316378
    BACK_BTBD8; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 8 (BTBD8)
    pfam15363
    Location:17491792
    DUF4596; Domain of unknown function (DUF4596)
    cl28903
    Location:396451
    BACK; BACK (BTB and C-terminal Kelch) domain
  2. NM_015237.4NP_056052.3  BTB/POZ domain-containing protein 8 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AB029030, AC104836, AK302496, R45515
    Consensus CDS
    CCDS44172.2
    UniProtKB/Swiss-Prot
    Q9UPP5
    UniProtKB/TrEMBL
    A0A1B0GWG1, B4DYL8
    Related
    ENSP00000490913.1, ENST00000637221.2
    Conserved Domains (1) summary
    pfam15363
    Location:12361279
    DUF4596; Domain of unknown function (DUF4596)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    92080345..92188509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000800.1XP_016856289.1  BTB/POZ domain-containing protein 8 isoform X1

    Conserved Domains (1) summary
    pfam15363
    Location:11711214
    DUF4596; Domain of unknown function (DUF4596)

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.
Support Center