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

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: mouse all
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Genomic context

Location:: 11q13.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (67403913..67410090)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (67398028..67404205)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (67171384..67177561)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Weighted Gene Coexpression Network Analysis Identifies TBC1D10C as a New Prognostic Biomarker for Breast Cancer.
Title: Weighted Gene Coexpression Network Analysis Identifies TBC1D10C as a New Prognostic Biomarker for Breast Cancer.
identify prolyl 4-hydroxylase 2 (P4HA2) as a specific proline hydroxylase of Carabin. Carabin hydroxylation leads to its proteasomal degradation, thereby activating the Ras/extracellular signal-regulated kinase pathway and increasing B-cell lymphoma proliferation.
Title: Prolyl 4-hydroxylase 2 promotes B-cell lymphoma progression via hydroxylation of Carabin.
Carabin as a new negative regulator of B-cell function, whose deficiency in B cells speeds up early B-cell responses
Title: Carabin deficiency in B cells increases BCR-TLR9 costimulation-induced autoimmunity.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Carabin is a negative feedback inhibitor of the calcineurin signalling pathway that also mediates crosstalk between calcineurin and Ras
Title: Feedback inhibition of calcineurin and Ras by a dual inhibitory protein Carabin.
Carabin inhibits calcineurin and Ras and was identified by a yeast-two-hybrid screen with calcineurin
Title: Feedback inhibition of calcineurin and Ras by a dual inhibitory protein Carabin.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 activation of GTPase activity	IBA Inferred from Biological aspect of Ancestor 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	IMP Inferred from Mutant Phenotype 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 more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: carabin

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)

NM_001256508.1 → NP_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:89 → 157

RabGAP-TBC; Rab-GTPase-TBC domain
NM_001369492.1 → NP_001356421.1 carabin isoform 3

Status: VALIDATED

Source sequence(s)

AP003419

Conserved Domains (1) summary

smart00164
Location:89 → 159

TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
NM_001369494.1 → NP_001356423.1 carabin isoform 4

Status: VALIDATED

Source sequence(s)

AP003419

Conserved Domains (1) summary

pfam00566
Location:56 → 193

RabGAP-TBC; Rab-GTPase-TBC domain
NM_001369495.1 → NP_001356424.1 carabin isoform 4

Status: VALIDATED

Source sequence(s)

AP003419

Conserved Domains (1) summary

pfam00566
Location:56 → 193

RabGAP-TBC; Rab-GTPase-TBC domain
NM_001369496.1 → NP_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:89 → 294

TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
NM_001369497.1 → NP_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:89 → 294

TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
NM_001369498.1 → NP_001356427.1 carabin isoform 5

Status: VALIDATED

Source sequence(s)

AP003419

Conserved Domains (1) summary

smart00164
Location:89 → 302

TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
NM_198517.4 → NP_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

G3V1D6, Q8IV04

Conserved Domains (1) summary

smart00164
Location:89 → 294

TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RNA

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