RAB6C RAB6C, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB6Cprovided by HGNC
Official Full Name: RAB6C, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:16525
See related: Ensembl:ENSG00000222014 MIM:612909; AllianceGenome:HGNC:16525
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: WTH3
Summary: Enables GTPase activity. Involved in mitotic cell cycle; regulation of centrosome duplication; and response to xenobiotic stimulus. Located in Golgi apparatus and centrosome. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: 2q21.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (129979666..129982738)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (130409324..130412385)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (130737239..130740311)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Rab6c is a new target of miR218 that can promote the progression of bladder cancer.
Title: Rab6c is a new target of miR‑218 that can promote the progression of bladder cancer.
This is the first study to report hypermethylation of LRPPRC, RAB6C, and ZNF471 in squamous cell carcinoma of the tongue
Title: Gene promoter-associated CpG island hypermethylation in squamous cell carcinoma of the tongue.
Rab6A'(Q72L) was then purified to homogeneity and crystallized at 293 K. X-ray diffraction data were collected to a resolution of 1.9 A from a crystal belonging to space group P22(1)2(1) with unit-cell parameters a = 36.84, b = 96.78, c = 109.99 A
Title: Crystallization and preliminary X-ray crystallographic studies of Rab6A'(Q72L): a GTP-locked form.
RAB6C is a rare example of a recently emerged retrogene that has acquired the status of a new gene, encoding a functional protein with altered characteristics compared to Rab6A'.
Title: RAB6C is a retrogene that encodes a centrosomal protein involved in cell cycle progression.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
plays role in multi-drug resistance development;DNA methylation is one of its transcription regulatory mechanisms
Title: Methylation of WTH3, a possible drug resistant gene, inhibits p53 regulated expression.
The behavior of WTH3 in primary drug-resistant breast cancer epithelial cells was similar to that in a model system where epigenetic regulation of the WTH3 gene was linked to the MDR phenotype.
Title: Epigenetic regulation of WTH3 in primary and cultured drug-resistant breast cancer cells.
The negative role played by the WTH3 gene in MDR development is through its proapoptotic potential that is regulated by multiple mechanisms at the transcription level, and one of these mechanisms is linked to the p53 gene.
Title: WTH3 is a direct target of the p53 protein.

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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
Genome-wide association study of chronic periodontitis in a general German population. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of RAB6C, member RAS oncogene family by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-21096 (e-PCR)
- UniSTS:32513

RH15940 (e-PCR)
- UniSTS:91187

D2S1527E (e-PCR)
- UniSTS:150618

A007D11 (e-PCR)
- UniSTS:362

RH64887 (e-PCR)
- UniSTS:84075

RH71435 (e-PCR)
- UniSTS:25838

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP 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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in intra-Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of centrosome duplication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to xenobiotic stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in retrograde transport, endosome to Golgi	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
involved_in small GTPase-mediated signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ras-related protein Rab-6C

Names: rab6-like protein WTH3

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_032144.3 → NP_115520.2 ras-related protein Rab-6C

See identical proteins and their annotated locations for NP_115520.2

Status: VALIDATED

Source sequence(s)

AC079776

Consensus CDS

CCDS46408.1

UniProtKB/Swiss-Prot

Q53RU3, Q6FIF7, Q9H0N0, Q9P128

UniProtKB/TrEMBL

Q53ET8, Q6FGX3

Related

ENSP00000387307.2, ENST00000410061.4

Conserved Domains (2) summary

smart00175
Location:14 → 171

RAB; Rab subfamily of small GTPases

cd01861
Location:14 → 174

Rab6; Rab GTPase family 6 (Rab6)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

129979666..129982738

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

NW_025791762.1 Reference GRCh38.p14 PATCHES

Range

151908..154980

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

130409324..130412385

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NG_001552.1: Suppressed sequence

Description

NG_001552.1: This RefSeq was permanently suppressed because it was created in error and erroneously represented a pseudogene instead of a functional protein-coding gene.