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

Gene ID: 26000, updated on 3-May-2020

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
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

Genomic context

See TBC1D10B in Genome Data Viewer
Location:
16p11.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (30357102..30370494, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30368422..30381522, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene carbonic anhydrase 5A pseudogene Neighboring gene Sharpr-MPRA regulatory region 48 Neighboring gene CD2 cytoplasmic tail binding protein 2 Neighboring gene CD2BP2 divergent transcript Neighboring gene myosin light chain, phosphorylatable, fast skeletal muscle Neighboring gene Sharpr-MPRA regulatory region 9884 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434P1750

Gene Ontology Provided by GOA

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

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
    Q4KMP7
    Related
    ENSP00000386538.3, ENST00000409939.8
    Conserved Domains (1) summary
    smart00164
    Location:357562
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011545789.2XP_011544091.1  TBC1 domain family member 10B isoform X1

    Conserved Domains (1) summary
    pfam00566
    Location:316456
    RabGAP-TBC; Rab-GTPase-TBC domain
  2. XM_011545790.3XP_011544092.1  TBC1 domain family member 10B isoform X2

    Conserved Domains (1) summary
    smart00164
    Location:357481
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
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