RAB3C RAB3C, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB3Cprovided by HGNC
Official Full Name: RAB3C, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:30269
See related: Ensembl:ENSG00000152932 MIM:612829; AllianceGenome:HGNC:30269
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene is a member of the RAS oncogene family and encodes a small GTPase. Other similar small GTPases are known to be involved in vesicle trafficking, and the encoded protein was shown to play a role in recycling phagocytosed MHC class 1 complexes to the cell surface. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Expression: Biased expression in brain (RPKM 24.5) and adrenal (RPKM 6.1) See more
Orthologs: mouse all
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Genomic context

Location:: 5q11.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (58582152..58859394)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (59399478..59677989)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (57877979..58155221)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Overexpression of synaptic vesicle protein Rab GTPase 3C promotes vesicular exocytosis and drug resistance in colorectal cancer cells.
Title: Overexpression of synaptic vesicle protein Rab GTPase 3C promotes vesicular exocytosis and drug resistance in colorectal cancer cells.
Studied role of RAB3C overexpression in tumor metastasis and poor prognosis of colorectal cancer. Found RAB3c is associated with modulating exocytosis of IL-6 in cancer cells, leading to activation of the IL6-JAK2-STAT3 pathway.
Title: Secretory RAB GTPase 3C modulates IL6-STAT3 pathway to promote colon cancer metastasis and is associated with poor prognosis.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rab3b/3c-positive recycling vesicles are involved in and may constitute one of the recycling compartments in exogenous antigen cross-presentation.
Title: The GTPase Rab3b/3c-positive recycling vesicles are involved in cross-presentation in dendritic cells.
Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
cloning, mapping, and characterization; expressed in the brain, placenta, and lung; maps to chromosome 5q13
Title: Cloning, mapping, and characterization of the human Rab3C gene.

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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

EBI GWAS Catalog

Description
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

L28251 (e-PCR)
- UniSTS:4422

RH79742 (e-PCR)
- UniSTS:87944

G16060 (e-PCR)
- UniSTS:39837

D5S2028 (e-PCR), detects polymorphism
- UniSTS:30668

SHGC-143625 (e-PCR)
- UniSTS:171985

RH65369 (e-PCR)
- UniSTS:81106

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTP-dependent protein binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables myosin V binding	IBA Inferred from Biological aspect of Ancestor more info
enables myosin V binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in antigen processing and presentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of exocytosis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ras-related protein Rab-3C

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_001317915.2 → NP_001304844.1 ras-related protein Rab-3C isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses a different first exon compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC008852, AC034250, BC013033, BX375794, BX394661, H05600

UniProtKB/Swiss-Prot

Q96E17

Conserved Domains (1) summary

cd01865
Location:28 → 192

Rab3; Rab GTPase family 3 contains Rab3A, Rab3B, Rab3C and Rab3D
NM_138453.4 → NP_612462.1 ras-related protein Rab-3C isoform 1

See identical proteins and their annotated locations for NP_612462.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC008852, BC013033, DB485923, H05600

Consensus CDS

CCDS3976.1

UniProtKB/Swiss-Prot

Q96E17

Related

ENSP00000282878.4, ENST00000282878.6

Conserved Domains (1) summary

cd01865
Location:30 → 194

Rab3; Rab GTPase family 3 contains Rab3A, Rab3B, Rab3C and Rab3D