Format

Send to:

Choose Destination

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

Gene ID: 26000, updated on 12-May-2016
Official Symbol
TBC1D10Bprovided by HGNC
Official Full Name
TBC1 domain family member 10Bprovided by HGNC
Primary source
HGNC:HGNC:24510
See related
Ensembl:ENSG00000169221 HPRD:10892; MIM:613620; Vega:OTTHUMG00000132396
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]
Orthologs
Location:
16p11.2
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (30357101..30370258, 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 uncharacterized LOC101928707 Neighboring gene CD2 (cytoplasmic tail) binding protein 2 Neighboring gene myosin light chain, phosphorylatable, fast skeletal muscle Neighboring gene myosin light chain, phosphorylatable, fast skeletal muscle Neighboring gene septin 1 Neighboring gene zinc finger protein 48

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp434P1750

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
 
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 
regulation of vesicle fusion IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
TBC1 domain family member 10B
Names
Rab27A-GAPbeta
TBC1 domain family, member 10B
rab27A-GAP-beta

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

    See identical proteins and their annotated locations for NP_056342.3

    Status: VALIDATED

    Source sequence(s)
    AI672923, BC050523, BC072453, BY795947
    Consensus CDS
    CCDS10676.2
    UniProtKB/Swiss-Prot
    Q4KMP7
    Related
    ENSP00000386538, OTTHUMP00000163229, ENST00000409939, OTTHUMT00000255527
    Conserved Domains (1) summary
    pfam00566
    Location:363562
    RabGAP-TBC; Rab-GTPase-TBC domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    30357101..30370258 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545789.1XP_011544091.1  

    Conserved Domains (1) summary
    pfam00566
    Location:316457
    RabGAP-TBC; Rab-GTPase-TBC domain
  2. XM_011545790.1XP_011544092.1  

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

RNA

  1. XR_950775.1 RNA Sequence

  2. XR_950776.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    31685477..31698576 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)