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

    Gene ID: 26000, updated on 28-Oct-2024

    Summary

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    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
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    Genomic context

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    See TBC1D10B in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30357102..30370494, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30743304..30756697, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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. The RabGAPs EPI64A and EPI64B regulate the apical structure of epithelial cells (†). Miller MR, et al. Mol Biol Cell, 2022 Jan 1. PMID 34757852, Free PMC Article
    2. TBC1D10B promotes tumor progression in colon cancer via PAK4‑mediated promotion of the PI3K/AKT/mTOR pathway. Chi XJ, et al. Apoptosis, 2024 Aug. PMID 38824479
    3. Regulation of VEGFR2 trafficking and signaling by Rab GTPase-activating proteins. Xie Y, et al. Sci Rep, 2019 Sep 16. PMID 31527750, Free PMC Article
    4. STAT4-mediated down-regulation of miR-3619-5p facilitates stomach adenocarcinoma by modulating TBC1D10B. Liu Y, et al. Cancer Biol Ther, 2020 Jul 2. PMID 32397798, Free PMC Article
    5. Regulation of exosome secretion by Rab35 and its GTPase-activating proteins TBC1D10A-C. Hsu C, et al. J Cell Biol, 2010 Apr 19. PMID 20404108, Free PMC Article

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TBC1D10B promotes tumor progression in colon cancer via PAK4-mediated promotion of the PI3K/AKT/mTOR pathway.
      Title: TBC1D10B promotes tumor progression in colon cancer via PAK4‑mediated promotion of the PI3K/AKT/mTOR pathway.
    2. The RabGAPs EPI64A and EPI64B regulate the apical structure of epithelial cells (dagger).
      Title: The RabGAPs EPI64A and EPI64B regulate the apical structure of epithelial cells (†).
    3. STAT4-mediated down-regulation of miR-3619-5p facilitates stomach adenocarcinoma by modulating TBC1D10B.
      Title: STAT4-mediated down-regulation of miR-3619-5p facilitates stomach adenocarcinoma by modulating TBC1D10B.
    4. Regulation of VEGFR2 trafficking and signaling by Rab GTPase-activating proteins.
      Title: Regulation of VEGFR2 trafficking and signaling by Rab GTPase-activating proteins.
    5. Data suggest that EPI64A and B, which are ubiquitously expressed members of the EPI64 subfamily, inactivate Ras and certain Rabs at the periphery of cells.
      Title: All members of the EPI64 subfamily of TBC/RabGAPs also have GAP activities towards Ras.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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

    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_015527.4 → NP_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:357 → 562
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      PRK07764
      Location:98 → 291
      PRK07764; DNA polymerase III subunits gamma and tau; Validated

    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_000016.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      Conserved Domains (1) summary
      pfam00566
      Location:316 → 456
      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_054380016.1 → XP_054235991.1  TBC1 domain family member 10B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4KMP7.3 GenPept UniProtKB/Swiss-Prot:Q4KMP7

    Gene LinkOut

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

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