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

    Gene ID: 284697, updated on 10-Dec-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 synaptic vesicle budding from endosome and synaptic vesicle endocytosis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 1.4), brain (RPKM 1.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BTBD8 in Genome Data Viewer
    Location:
    1p22.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (92080345..92184723)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (91925186..92029580)
    RS_2024_09 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 (21) 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)

    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

    Process Evidence Code Pubs
    involved_in synaptic vesicle budding from endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synaptic vesicle endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 extrinsic component of synaptic vesicle membrane 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 

    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_2024_08

    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

      UniProtKB/TrEMBL
      A0A291NFE5

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

      UniProtKB/TrEMBL
      E9PEZ5

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

      UniProtKB/TrEMBL
      E9PEZ5

    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

      UniProtKB/TrEMBL
      E9PEZ5

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

      UniProtKB/TrEMBL
      E9PEZ5

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

      UniProtKB/TrEMBL
      A0A291NFE5

    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

      UniProtKB/TrEMBL
      E9PEZ5

    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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