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 bee... See more...

Aliases for TBC1D10C Gene

Aliases for TBC1D10C Gene

  • TBC1 Domain Family Member 10C 2 3 4 5
  • Carabin 2 3 4
  • EPI64C 2 3
  • TBC1 Domain Family, Member 10C 2
  • TBC1D10C 5
  • FLJ00332 2
  • CARABIN 3

External Ids for TBC1D10C Gene

Previous GeneCards Identifiers for TBC1D10C Gene

  • GC11P066929
  • GC11P067171
  • GC11P063500

Summaries for TBC1D10C Gene

Entrez Gene Summary for TBC1D10C Gene

  • 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]

GeneCards Summary for TBC1D10C Gene

TBC1D10C (TBC1 Domain Family Member 10C) is a Protein Coding gene. Diseases associated with TBC1D10C include Chromosome 17Q23.1-Q23.2 Deletion Syndrome and Crouzon Syndrome With Acanthosis Nigricans. Among its related pathways are Vesicle-mediated transport and Innate Immune System. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D10B.

UniProtKB/Swiss-Prot Summary for TBC1D10C Gene

  • Inhibits the Ras signaling pathway through its intrinsic Ras GTPase-activating protein (GAP) activity. Acts as a negative feedback inhibitor of the calcineurin signaling pathway that also mediates crosstalk between calcineurin and Ras.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D10C Gene

Genomics for TBC1D10C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TBC1D10C Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBC1D10C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D10C

Top Transcription factor binding sites by QIAGEN in the TBC1D10C gene promoter:
  • ARP-1
  • HEN1
  • Lmo2
  • p53
  • Sp1

Genomic Locations for TBC1D10C Gene

Latest Assembly
chr11:67,403,718-67,410,090
(GRCh38/hg38)
Size:
6,373 bases
Orientation:
Plus strand

Previous Assembly
chr11:67,171,384-67,177,561
(GRCh37/hg19 by Entrez Gene)
Size:
6,178 bases
Orientation:
Plus strand

chr11:67,171,386-67,177,560
(GRCh37/hg19 by Ensembl)
Size:
6,175 bases
Orientation:
Plus strand

Genomic View for TBC1D10C Gene

Genes around TBC1D10C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D10C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D10C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D10C Gene

Proteins for TBC1D10C Gene

  • Protein details for TBC1D10C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IV04-TB10C_HUMAN
    Recommended name:
    Carabin
    Protein Accession:
    Q8IV04
    Secondary Accessions:
    • G3V1D6

    Protein attributes for TBC1D10C Gene

    Size:
    446 amino acids
    Molecular mass:
    49712 Da
    Quaternary structure:
    • Interacts with both calcineurin and HRAS.

    Alternative splice isoforms for TBC1D10C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D10C Gene

Post-translational modifications for TBC1D10C Gene

  • Ubiquitination at Lys347
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TBC1D10C Gene

Domains & Families for TBC1D10C Gene

Gene Families for TBC1D10C Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TBC1D10C Gene

InterPro:
Blocks:
  • RabGAP/TBC domain
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D10C Gene

GenScript: Design optimal peptide antigens:
  • TBC1 domain family, member 10C (B9A6L1_HUMAN)
  • FLJ00332 protein (Q86YV2_HUMAN)
  • TBC1 domain family member 10C (TB10C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IV04

UniProtKB/Swiss-Prot:

TB10C_HUMAN :
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.
Domain:
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.
genes like me logo Genes that share domains with TBC1D10C: view

Function for TBC1D10C Gene

Molecular function for TBC1D10C Gene

UniProtKB/Swiss-Prot Function:
Inhibits the Ras signaling pathway through its intrinsic Ras GTPase-activating protein (GAP) activity. Acts as a negative feedback inhibitor of the calcineurin signaling pathway that also mediates crosstalk between calcineurin and Ras.

Phenotypes From GWAS Catalog for TBC1D10C Gene

Gene Ontology (GO) - Molecular Function for TBC1D10C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA 21873635
GO:0005515 protein binding IPI 25416956
GO:0031267 small GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D10C: view
genes like me logo Genes that share phenotypes with TBC1D10C: view

Animal Models for TBC1D10C Gene

MGI Knock Outs for TBC1D10C:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D10C

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TBC1D10C Gene

Localization for TBC1D10C Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBC1D10C gene
Compartment Confidence
plasma membrane 5
cytosol 4
nucleus 2
extracellular 1
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBC1D10C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane HDA 19946888
GO:0031527 filopodium membrane IDA 17562788
GO:0101003 ficolin-1-rich granule membrane TAS --
genes like me logo Genes that share ontologies with TBC1D10C: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TBC1D10C Gene

Pathways & Interactions for TBC1D10C Gene

genes like me logo Genes that share pathways with TBC1D10C: view

Pathways by source for TBC1D10C Gene

Gene Ontology (GO) - Biological Process for TBC1D10C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0042147 retrograde transport, endosome to Golgi IMP 17562788
GO:0043312 neutrophil degranulation TAS --
GO:0050869 negative regulation of B cell activation IEA --
GO:0070373 negative regulation of ERK1 and ERK2 cascade IEA --
genes like me logo Genes that share ontologies with TBC1D10C: view

No data available for SIGNOR curated interactions for TBC1D10C Gene

Drugs & Compounds for TBC1D10C Gene

No Compound Related Data Available

Transcripts for TBC1D10C Gene

mRNA/cDNA for TBC1D10C Gene

8 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D10C

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D10C Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - -
SP6: - - - - - - -
SP7: - -
SP8: -
SP9:

Relevant External Links for TBC1D10C Gene

GeneLoc Exon Structure for
TBC1D10C

Expression for TBC1D10C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBC1D10C Gene

mRNA differential expression in normal tissues according to GTEx for TBC1D10C Gene

This gene is overexpressed in Whole Blood (x27.2) and Spleen (x8.0).

Protein differential expression in normal tissues from HIPED for TBC1D10C Gene

This gene is overexpressed in CD8 Tcells (16.1), Lymph node (9.6), Blymphocyte (9.0), NK cells (8.4), Peripheral blood mononuclear cells (8.3), and Tlymphocyte (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TBC1D10C Gene



Protein tissue co-expression partners for TBC1D10C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBC1D10C

SOURCE GeneReport for Unigene cluster for TBC1D10C Gene:

Hs.534648

mRNA Expression by UniProt/SwissProt for TBC1D10C Gene:

Q8IV04-TB10C_HUMAN
Tissue specificity: Most abundant in spleen and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for TBC1D10C Gene

  • Blood(4.4)
  • Nervous system(4.2)
  • Pancreas(4)
genes like me logo Genes that share expression patterns with TBC1D10C: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D10C Gene

Orthologs for TBC1D10C Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBC1D10C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TBC1D10C 30 31
  • 96.19 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TBC1D10C 30 31
  • 88.12 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tbc1d10c 30
  • 84.08 (n)
Mouse
(Mus musculus)
Mammalia Tbc1d10c 30 17 31
  • 84.01 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TBC1D10C 31
  • 82 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TBC1D10C 31
  • 74 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TBC1D10C 31
  • 60 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii LOC101887140 30
  • 55.59 (n)
TBC1D10C 31
  • 14 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta wkd 31
  • 41 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea tbc-10 31
  • 31 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSB4 31
  • 18 (a)
ManyToMany
MSB3 31
  • 16 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6221 31
  • 40 (a)
OneToMany
Species where no ortholog for TBC1D10C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for TBC1D10C Gene

ENSEMBL:
Gene Tree for TBC1D10C (if available)
TreeFam:
Gene Tree for TBC1D10C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TBC1D10C: view image

Paralogs for TBC1D10C Gene

(5) SIMAP similar genes for TBC1D10C Gene using alignment to 3 proteins:

  • TB10C_HUMAN
  • B9A6L1_HUMAN
  • E9PSB7_HUMAN
genes like me logo Genes that share paralogs with TBC1D10C: view

Variants for TBC1D10C Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TBC1D10C Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TBC1D10C Gene

Variant ID Type Subtype PubMed ID
dgv1977n54 CNV loss 21841781
dgv52n111 CNV deletion 26073780
nsv516453 CNV loss 19592680
nsv521723 CNV loss 19592680

Variation tolerance for TBC1D10C Gene

Residual Variation Intolerance Score: 31.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.34; 26.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBC1D10C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D10C

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBC1D10C Gene

Disorders for TBC1D10C Gene

MalaCards: The human disease database

(2) MalaCards diseases for TBC1D10C Gene - From: COP

Disorder Aliases PubMed IDs
chromosome 17q23.1-q23.2 deletion syndrome
  • 17q23.1-q23.2 microdeletion syndrome
crouzon syndrome with acanthosis nigricans
  • can
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TBC1D10C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TBC1D10C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBC1D10C Gene

Publications for TBC1D10C Gene

  1. Feedback inhibition of calcineurin and Ras by a dual inhibitory protein Carabin. (PMID: 17230191) Pan F … Liu JO (Nature 2007) 2 3 4
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  3. Regulation of exosome secretion by Rab35 and its GTPase-activating proteins TBC1D10A-C. (PMID: 20404108) Hsu C … Simons M (The Journal of cell biology 2010) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3

Products for TBC1D10C Gene

Sources for TBC1D10C Gene