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Btbd8 BTB domain containing 8 [ Mus musculus (house mouse) ]

Gene ID: 100503185, updated on 30-Apr-2024

Summary

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Official Symbol
Btbd8provided by MGI
Official Full Name
BTB domain containing 8provided by MGI
Primary source
MGI:MGI:3646208
See related
Ensembl:ENSMUSG00000111375 AllianceGenome:MGI:3646208
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Gm16115; AI849226; EG627196; mKIAA1107; A830010M20Rik
Summary
Involved in clathrin-dependent synaptic vesicle endocytosis; neuron projection development; and synaptic vesicle budding from endosome. Located in axon; cell body; and synapse. Part of AP-2 adaptor complex. Is active in presynapse. Is expressed in central nervous system and retina. Orthologous to human BTBD8 (BTB domain containing 8). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
human all
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Genomic context

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See Btbd8 in Genome Data Viewer
Location:
5 F; 5 52.23 cM
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (107585796..107660426)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (107437930..107512560)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene 17202 Neighboring gene epoxide hydrolase 4 Neighboring gene STARR-seq mESC enhancer starr_13889 Neighboring gene lysophosphatidylcholine acyltransferase 2B Neighboring gene predicted gene, 33885 Neighboring gene LSM12 homolog pseudogene Neighboring gene RIKEN cDNA 1700028K03 gene Neighboring gene glomulin, FKBP associated protein Neighboring gene STARR-seq mESC enhancer starr_13890 Neighboring gene STARR-positive B cell enhancer ABC_E1683 Neighboring gene RNA polymerase II associated protein 2 Neighboring gene RIKEN cDNA A930041C12 gene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. 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
  2. Dynamin-1 co-associates with native mouse brain BKCa channels: proteomics analysis of synaptic protein complexes. Gorini G, et al. FEBS Lett, 2010 Mar 5. PMID 20114047, Free PMC Article
  3. A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome. Mural RJ, et al. Science, 2002 May 31. PMID 12040188
  4. Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Feb 28. PMID 12693553
  5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Btbd8 deficiency reduces susceptibility to colitis by enhancing intestinal barrier function and suppressing inflammation.
    Title: Btbd8 deficiency reduces susceptibility to colitis by enhancing intestinal barrier function and suppressing inflammation.
  2. APache is a presynaptic AP2 interactor on clathrin-coated vesicles. APache silencing impairs clathrin-mediated endocytosis and synaptic function.
    Title: APache Is an AP2-Interacting Protein Involved in Synaptic Vesicle Trafficking and Neuronal Development.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1107

Gene Ontology Provided by MGI

Process Evidence Code Pubs
involved_in synaptic vesicle budding from endosome EXP
Inferred from Experiment
more info
 PubMed 
involved_in synaptic vesicle budding from endosome IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in synaptic vesicle budding from endosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in synaptic vesicle endocytosis EXP
Inferred from Experiment
more info
 PubMed 
involved_in synaptic vesicle endocytosis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in synaptic vesicle endocytosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of AP-2 adaptor complex ISO
Inferred from Sequence Orthology
more info
  
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
is_active_in extrinsic component of synaptic vesicle membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in extrinsic component of synaptic vesicle membrane IEP
Inferred from Expression Pattern
more info
 PubMed 
is_active_in extrinsic component of synaptic vesicle membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in neuron projection terminus ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  
located_in synaptic vesicle ISO
Inferred from Sequence Orthology
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

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_001168557.2 → NP_001162029.1  BTB/POZ domain-containing protein 8 isoform 2

    See identical proteins and their annotated locations for NP_001162029.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment in the 3' region, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 2.
    Source sequence(s)
    AC134411
    Consensus CDS
    CCDS51585.1
    UniProtKB/TrEMBL
    Q3TEG0
    Related
    ENSMUSP00000056529.8, ENSMUST00000060553.8

  2. NM_001378266.2 → NP_001365195.1  BTB/POZ domain-containing protein 8 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC126598, AC134411
    UniProtKB/Swiss-Prot
    A0A1D5RL96, D3YUB6, E9PUC9, E9QLA8, Q3TPG8, Q80TK0, Q8BRQ7, Q8BRS6
    Related
    ENSMUSP00000148277.2, ENSMUST00000211896.2
    Conserved Domains (5) summary
    cd18285
    Location:43 → 146
    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:188 → 308
    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)
    cd14733
    Location:405 → 436
    BACK; BACK (BTB and C-terminal Kelch) domain
    cd18490
    Location:316 → 377
    BACK_BTBD8; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 8 (BTBD8)
    pfam15363
    Location:1707 → 1751
    DUF4596; Domain of unknown function (DUF4596)

  3. NM_001384112.1 → NP_001371041.1  BTB/POZ domain-containing protein 8 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC134411
    Related
    ENSMUSP00000098511.3, ENSMUST00000100951.9
    Conserved Domains (1) summary
    pfam15363
    Location:1195 → 1239
    DUF4596; Domain of unknown function (DUF4596)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    107585796..107660426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001007574.2: Suppressed sequence

    Description
    NM_001007574.2: This RefSeq was removed because the CDS was partial.

  2. NM_001255991.1: Suppressed sequence

    Description
    NM_001255991.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
D3YUB6.2 GenPept UniProtKB/Swiss-Prot:D3YUB6

Gene LinkOut

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

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