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    TBC1D10B TBC1 domain family member 10B [ Homo sapiens (human) ]

    Gene ID: 26000, updated on 17-Jun-2024

    Summary

    Official Symbol
    TBC1D10Bprovided by HGNC
    Official Full Name
    TBC1 domain family member 10Bprovided by HGNC
    Primary source
    HGNC:HGNC:24510
    See related
    Ensembl:ENSG00000169221 MIM:613620; AllianceGenome:HGNC:24510
    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
    EPI64B; FP2461
    Summary
    Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase-activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family (Ishibashi et al., 2009 [PubMed 19077034]).[supplied by OMIM, Nov 2010]
    Expression
    Ubiquitous expression in testis (RPKM 19.6), brain (RPKM 12.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TBC1D10B in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30357102..30370494, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30743304..30756697, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30368423..30381815, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene carbonic anhydrase 5A pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30353983-30354484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30359053-30359552 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:30365679-30366878 Neighboring gene CD2 cytoplasmic tail binding protein 2 Neighboring gene CD2BP2 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7363 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7364 Neighboring gene myosin light chain 11 Neighboring gene Sharpr-MPRA regulatory region 9884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30390133-30390690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30390691-30391248 Neighboring gene septin 1 Neighboring gene zinc finger protein 48

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp434P1750

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in activation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT involved_in regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in retrograde transport, endosome to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    TBC1 domain family member 10B
    Names
    Rab27A-GAPbeta
    rab27A-GAP-beta

    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_015527.4NP_056342.3  TBC1 domain family member 10B

      See identical proteins and their annotated locations for NP_056342.3

      Status: VALIDATED

      Source sequence(s)
      AC106782, AI672923, BC072453, BY795947
      Consensus CDS
      CCDS10676.2
      UniProtKB/Swiss-Prot
      B9A6L0, Q4KMP7, Q6IN54, Q6P530, Q71RG7, Q86VC5, Q9H8Z2, Q9NUN6, Q9UFP2
      Related
      ENSP00000386538.3, ENST00000409939.8
      Conserved Domains (2) summary
      smart00164
      Location:357562
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      PRK07764
      Location:98291
      PRK07764; DNA polymerase III subunits gamma and tau; Validated

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      30357102..30370494 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545789.3XP_011544091.1  TBC1 domain family member 10B isoform X1

      Conserved Domains (1) summary
      pfam00566
      Location:316456
      RabGAP-TBC; Rab-GTPase-TBC domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      30743304..30756697 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380016.1XP_054235991.1  TBC1 domain family member 10B isoform X1