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

    Gene ID: 374403, updated on 25-Nov-2021

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See TBC1D10C in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (67403718..67410090)
    105.20201022 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
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in filopodium membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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 109.20211119

    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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