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

Gene ID: 26000, updated on 5-Mar-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_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

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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. 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. 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
  3. 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
  4. 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
  5. All members of the EPI64 subfamily of TBC/RabGAPs also have GAP activities towards Ras. Nagai H, et al. J Biochem, 2013 Mar. PMID 23248241

See all (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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 (†).
  2. 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.
  3. Regulation of VEGFR2 trafficking and signaling by Rab GTPase-activating proteins.
    Title: Regulation of VEGFR2 trafficking and signaling by Rab GTPase-activating proteins.
  4. 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 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

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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_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_011545789.3 → 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

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