RAB6A RAB6A, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB6Aprovided by HGNC
Official Full Name: RAB6A, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:9786
See related: Ensembl:ENSG00000175582 MIM:179513; AllianceGenome:HGNC:9786
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
Also known as: RAB6
Summary: This gene encodes a member of the RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor compartments. This protein is located at the Golgi apparatus, which regulates trafficking in both a retrograde (from early endosomes and Golgi to the endoplasmic reticulum) and an anterograde (from the Golgi to the plasma membrane) directions. Myosin II is an effector of this protein in these processes. This protein is also involved in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1, which interacts with the HCMV virion tegument protein, pp150. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Expression: Ubiquitous expression in brain (RPKM 87.2), thyroid (RPKM 53.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.4

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (73675638..73761074, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (73604789..73690219, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (73386683..73472119, complement)

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 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?

RAB6A functions as a critical modulator of the stem-like subsets in cholangiocarcinoma.
Title: RAB6A functions as a critical modulator of the stem-like subsets in cholangiocarcinoma.
Small GTPase RAB6 deficiency promotes alveolar progenitor cell renewal and attenuates PM2.5-induced lung injury and fibrosis.
Title: Small GTPase RAB6 deficiency promotes alveolar progenitor cell renewal and attenuates PM2.5-induced lung injury and fibrosis.
Rab6 regulates recycling and retrograde trafficking of MR1 molecules.
Title: Rab6 regulates recycling and retrograde trafficking of MR1 molecules.
We observed that, irrespective of the transported cargos, most post-Golgi carriers are positive for RAB6 and that its inactivation leads to a broad reduction of protein secretion. RAB6 may thus be a general regulator of post-Golgi secretion.
Title: RAB6 and microtubules restrict protein secretion to focal adhesions.
it was suggested that ARHGEF10 is involved in the regulation of Rab6A and Rab8A localization and invasion of breast carcinoma cells, in which Rab8 also acts via regulation of membrane trafficking.
Title: Involvement of ARHGEF10, GEF for RhoA, in Rab6/Rab8-mediating membrane traffic.
LAT, once internalized, transits through the Golgi-trans-Golgi network (TGN), where it is repolarized to the immune synapse.
Title: Rab6-dependent retrograde traffic of LAT controls immune synapse formation and T cell activation.
These results suggest that miR-5100 increases the cisplatin resistance of the lung cancer stem cells by inhibiting the Rab6.
Title: MiR-5100 increases the cisplatin resistance of the lung cancer stem cells by inhibiting the Rab6.
Ectopic expression of an N-terminal-truncated ARHGEF10 mutant led to the generation of large vesicle-like structures containing both Rab6 and Rab8.
Title: ARHGEF10 directs the localization of Rab8 to Rab6-positive executive vesicles.
Rab6A binding to KIF1C's motor domain represents an entirely new mode of regulation for a kinesin motor, and likely has important consequences for KIF1C's cellular functions.
Title: Rab6 regulation of the kinesin family KIF1C motor domain contributes to Golgi tethering.
GORAB missense mutation disrupt RAB6 protein binding in genetic skin diseases.
Title: GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.

Submit: New GeneRIF Correction See all GeneRIFs (38)

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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic 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 RAB6A, member RAS oncogene family by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	RAB6 is involved in membrane fusion mediated by the envelope protein gp120/gp41 of HIV-1 and the CD4 receptor	PubMed
Envelope transmembrane glycoprotein gp41	env	RAB6 is involved in membrane fusion mediated by the envelope protein gp120/gp41 of HIV-1 and the CD4 receptor	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

WIAF-2089 (e-PCR)
- UniSTS:32780

RH65877 (e-PCR)
- UniSTS:45864

RH15940 (e-PCR)
- UniSTS:91187

D2S1527E (e-PCR)
- UniSTS:150618

HSC1HH102 (e-PCR)
- UniSTS:26725

A007D11 (e-PCR)
- UniSTS:362

RH64887 (e-PCR)
- UniSTS:84075

WI-17776 (e-PCR)
- UniSTS:37746

G60223 (e-PCR)
- UniSTS:137334

RAB6C_1710 (e-PCR)
- UniSTS:277648

RH71435 (e-PCR)
- UniSTS:25838

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IDA Inferred from Direct Assay more info	PubMed
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	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific 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 early endosome to Golgi transport	IMP Inferred from Mutant Phenotype more info	PubMed
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 minus-end-directed organelle transport along microtubule	TAS Traceable Author Statement more info	PubMed
involved_in neuron projection development	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within peptidyl-cysteine methylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to Golgi membrane	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 vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	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	PubMed
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in acrosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in endosome to plasma membrane transport vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in secretory granule membrane	TAS Traceable Author Statement more info
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ras-related protein Rab-6A

Names: RAB6, member RAS oncogene family; Rab GTPase

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.

Genomic

NG_029821.1 RefSeqGene

Range

5083..90519

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001243718.2 → NP_001230647.1 ras-related protein Rab-6A isoform d

See identical proteins and their annotated locations for NP_001230647.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two consecutive exons in the coding region, and the reading frame is not affected, compared to variant 1. The resulting isoform (d) lacks an internal segment, compared to isoform a.

Source sequence(s)

AK223551, AP002993, BI545554, DQ437503

Consensus CDS

CCDS58156.1

UniProtKB/Swiss-Prot

P20340

UniProtKB/TrEMBL

Q53ET8

Related

ENSP00000445350.1, ENST00000541588.5

Conserved Domains (1) summary

cl21455
Location:14 → 62

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001243719.2 → NP_001230648.1 ras-related protein Rab-6A isoform c

See identical proteins and their annotated locations for NP_001230648.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an alternate 5' exon, resulting in a downstream AUG start codon, compared to variant 1. The resulting isoform (c) is shorter at the N-terminus, compared to isoform a.

Source sequence(s)

AK301534, AP002770, AP002993

Consensus CDS

CCDS58155.1

UniProtKB/TrEMBL

Q53ET8, Q6FGX3

Related

ENSP00000443782.2, ENST00000541973.5

Conserved Domains (1) summary

cd01861
Location:1 → 141

Rab6; Rab GTPase family 6 (Rab6)
NM_002869.5 → NP_002860.2 ras-related protein Rab-6A isoform a

See identical proteins and their annotated locations for NP_002860.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform a, also known as RAB6A' or RAB6C.

Source sequence(s)

BC003617, BU685989, CB067721, CB989138

Consensus CDS

CCDS8223.1

UniProtKB/TrEMBL

Q53ET8, Q6FGX3

Related

ENSP00000311449.5, ENST00000310653.10

Conserved Domains (1) summary

cd01861
Location:14 → 174

Rab6; Rab GTPase family 6 (Rab6)
NM_198896.2 → NP_942599.1 ras-related protein Rab-6A isoform b

See identical proteins and their annotated locations for NP_942599.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate exon with the same size in the coding region, compared to variant 1. The resulting isoform (b, also known as RAB6A) is the same size but has three different aa in an internal segment, compared to isoform a.

Source sequence(s)

BC003617, BI552973, BQ422263, BU685989, CB067721, CB989138

Consensus CDS

CCDS8224.1

UniProtKB/Swiss-Prot

A8K133, B7Z772, F5H668, P20340, Q1W5D8, Q5U0A8, Q9UBE4

UniProtKB/TrEMBL

A0A024R5J5, Q53ET8, Q6FGX3

Related

ENSP00000336850.3, ENST00000336083.8

Conserved Domains (1) summary

cd01861
Location:14 → 174

Rab6; Rab GTPase family 6 (Rab6)