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TBC1D10C TBC1 domain family member 10C [ Homo sapiens (human) ]

Gene ID: 374403, updated on 18-Aug-2020

Summary

Official Symbol
TBC1D10Cprovided by HGNC
Official Full Name
TBC1 domain family member 10Cprovided by HGNC
Primary source
HGNC:HGNC:24702
See related
Ensembl:ENSG00000175463 MIM:610831
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
EPI64C; CARABIN
Summary
The protein encoded by this gene has an N-terminal Rab-GTPase domain and a binding site at the C-terminus for calcineurin, and is an inhibitor of both the Ras signaling pathway and calcineurin, a phosphatase regulated by calcium and calmodulin. Genes encoding similar proteins are located on chromosomes 16 and 22. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
Expression
Biased expression in lymph node (RPKM 27.2), spleen (RPKM 25.6) and 10 other tissues See more
Orthologs

Genomic context

See TBC1D10C in Genome Data Viewer
Location:
11q13.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (67403718..67410090)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67171384..67177561)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RAD9 checkpoint clamp component A Neighboring gene RNA, U6 small nuclear 1238, pseudogene Neighboring gene protein phosphatase 1 catalytic subunit alpha Neighboring gene carnosine synthase 1 Neighboring gene ribosomal protein S6 kinase B2

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

Homology

Clone Names

  • FLJ00332, MGC46488

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
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 
negative regulation of B cell activation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
 
negative regulation of calcineurin-NFAT signaling cascade IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
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
 
ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
filopodium membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

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_001256508.1NP_001243437.1  carabin isoform 2

    See identical proteins and their annotated locations for NP_001243437.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses two alternate splice sites and lacks an exon in the 3' coding region which results in a frameshift compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AP003419, BC035630, BU615963
    Consensus CDS
    CCDS58150.1
    UniProtKB/Swiss-Prot
    Q8IV04
    Related
    ENSP00000435543.1, ENST00000526387.5
    Conserved Domains (1) summary
    cl02495
    Location:89157
    RabGAP-TBC; Rab-GTPase-TBC domain
  2. NM_001369492.1NP_001356421.1  carabin isoform 3

    Status: VALIDATED

    Source sequence(s)
    AP003419
    Conserved Domains (1) summary
    smart00164
    Location:89159
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  3. NM_001369494.1NP_001356423.1  carabin isoform 4

    Status: VALIDATED

    Source sequence(s)
    AP003419
    Conserved Domains (1) summary
    pfam00566
    Location:56193
    RabGAP-TBC; Rab-GTPase-TBC domain
  4. NM_001369495.1NP_001356424.1  carabin isoform 4

    Status: VALIDATED

    Source sequence(s)
    AP003419
    Conserved Domains (1) summary
    pfam00566
    Location:56193
    RabGAP-TBC; Rab-GTPase-TBC domain
  5. NM_001369496.1NP_001356425.1  carabin isoform 1

    Status: VALIDATED

    Source sequence(s)
    AP003419
    Related
    ENSP00000443654.1, ENST00000542590.2
    Conserved Domains (1) summary
    smart00164
    Location:89294
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  6. NM_001369497.1NP_001356426.1  carabin isoform 1

    Status: VALIDATED

    Source sequence(s)
    AP003419
    Conserved Domains (1) summary
    smart00164
    Location:89294
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  7. NM_001369498.1NP_001356427.1  carabin isoform 5

    Status: VALIDATED

    Source sequence(s)
    AP003419
    Conserved Domains (1) summary
    smart00164
    Location:89302
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  8. NM_198517.4NP_940919.1  carabin isoform 1

    See identical proteins and their annotated locations for NP_940919.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer protein (isoform 1).
    Source sequence(s)
    AP003419
    Consensus CDS
    CCDS8162.1
    UniProtKB/Swiss-Prot
    Q8IV04
    Conserved Domains (1) summary
    smart00164
    Location:89294
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RNA

  1. NR_046266.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP003419
    Related
    ENST00000529635.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    67403718..67410090
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718541.3XP_006718604.1  carabin isoform X2

    See identical proteins and their annotated locations for XP_006718604.1

    Conserved Domains (1) summary
    pfam00566
    Location:56193
    RabGAP-TBC; Rab-GTPase-TBC domain
  2. XM_006718542.3XP_006718605.1  carabin isoform X2

    See identical proteins and their annotated locations for XP_006718605.1

    Conserved Domains (1) summary
    pfam00566
    Location:56193
    RabGAP-TBC; Rab-GTPase-TBC domain
  3. XM_006718538.4XP_006718601.1  carabin isoform X1

    See identical proteins and their annotated locations for XP_006718601.1

    UniProtKB/Swiss-Prot
    Q8IV04
    Conserved Domains (1) summary
    smart00164
    Location:89294
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  4. XM_006718539.4XP_006718602.1  carabin isoform X1

    See identical proteins and their annotated locations for XP_006718602.1

    UniProtKB/Swiss-Prot
    Q8IV04
    Conserved Domains (1) summary
    smart00164
    Location:89294
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  5. XM_011545002.2XP_011543304.1  carabin isoform X3

    Conserved Domains (1) summary
    smart00164
    Location:89280
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  6. XM_006718543.2XP_006718606.1  carabin isoform X2

    See identical proteins and their annotated locations for XP_006718606.1

    Conserved Domains (1) summary
    pfam00566
    Location:56193
    RabGAP-TBC; Rab-GTPase-TBC domain
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