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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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