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

Gene ID: 374403, updated on 18-Sep-2024

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; AllianceGenome:HGNC:24702
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
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Genomic context

See TBC1D10C in Genome Data Viewer
Location:
11q13.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (67403913..67410090)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (67398028..67404205)
RS_2024_09 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67164978-67165559 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67165560-67166140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3630 Neighboring gene protein phosphatase 1 catalytic subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67179513-67180014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67180015-67180514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67183887-67184722 Neighboring gene carnosine synthase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3631 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5093 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67195675-67196442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67196443-67197210 Neighboring gene ribosomal protein S6 kinase B2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67201247-67202008

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

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
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in B cell activation IEA
Inferred from Electronic Annotation
more info
 
involved_in ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
 
involved_in calcineurin-NFAT signaling cascade IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of B cell activation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of calcineurin-NFAT signaling cascade IEA
Inferred from Electronic Annotation
more info
 
NOT involved_in regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in retrograde transport, endosome to Golgi IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
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 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
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)

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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_001256508.1NP_001243437.1  carabin isoform 2

    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
    Consensus CDS
    CCDS8162.1
    UniProtKB/Swiss-Prot
    G3V1D6, Q8IV04
    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
    Consensus CDS
    CCDS8162.1
    UniProtKB/Swiss-Prot
    G3V1D6, Q8IV04
    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

    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
    G3V1D6, 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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    67403913..67410090
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718538.5XP_006718601.1  carabin isoform X1

    UniProtKB/Swiss-Prot
    G3V1D6, Q8IV04
    Conserved Domains (1) summary
    smart00164
    Location:89294
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  2. XM_006718539.5XP_006718602.1  carabin isoform X1

    UniProtKB/Swiss-Prot
    G3V1D6, Q8IV04
    Conserved Domains (1) summary
    smart00164
    Location:89294
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  3. XM_047426914.1XP_047282870.1  carabin isoform X6

    Related
    ENSP00000310193.6, ENST00000312390.9
  4. XM_047426910.1XP_047282866.1  carabin isoform X2

  5. XM_047426909.1XP_047282865.1  carabin isoform X2

  6. XM_047426913.1XP_047282869.1  carabin isoform X5

  7. XM_011545002.3XP_011543304.1  carabin isoform X3

    Conserved Domains (1) summary
    smart00164
    Location:89280
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  8. XM_047426911.1XP_047282867.1  carabin isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    67398028..67404205
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368706.1XP_054224681.1  carabin isoform X1

    UniProtKB/Swiss-Prot
    G3V1D6, Q8IV04
  2. XM_054368707.1XP_054224682.1  carabin isoform X1

    UniProtKB/Swiss-Prot
    G3V1D6, Q8IV04
  3. XM_054368713.1XP_054224688.1  carabin isoform X6

  4. XM_054368709.1XP_054224684.1  carabin isoform X2

  5. XM_054368708.1XP_054224683.1  carabin isoform X2

  6. XM_054368712.1XP_054224687.1  carabin isoform X5

  7. XM_054368710.1XP_054224685.1  carabin isoform X3

  8. XM_054368711.1XP_054224686.1  carabin isoform X4