RAB6A - RAB6A, member RAS oncogene family Gene

Also Known as RAB6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5870

About RAB6A

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:73,675,638-73,761,074 (from NCBI)

This gene has 10 transcripts (splice variants), 239 orthologues and 68 paralogues. Ubiquitous expression in brain (RPKM 87.2), thyroid (RPKM 53.8) and 25 other tissues.

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]

RAB6A Products (4)

mRNA	Protein	Name
NM_001243718.2	NP_001230647.1	ras-related protein Rab-6A isoform d
NM_001243719.2	NP_001230648.1	ras-related protein Rab-6A isoform c
NM_002869.5	NP_002860.2	ras-related protein Rab-6A isoform a
NM_198896.2	NP_942599.1	ras-related protein Rab-6A isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTP binding	IDA IDA: Inferred from direct assay	16332443	GOA
enables GTPase activity	IDA IDA: Inferred from direct assay	16332443	GOA
enables myosin V binding	IPI IPI: Inferred from physical interaction	24006491	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12391317	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	12447383	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in antigen processing and presentation	IMP IMP: Inferred from mutant phenotype	19717423	GOA
involved in early endosome to Golgi transport	IMP IMP: Inferred from mutant phenotype	17562788	GOA
acts upstream of or within peptidyl-cysteine methylation	IDA IDA: Inferred from direct assay	11121396	GOA
involved in protein localization to Golgi apparatus	IDA IDA: Inferred from direct assay	12447383	GOA
involved in protein localization to Golgi membrane	IMP IMP: Inferred from mutant phenotype	25492866	GOA
involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP IMP: Inferred from mutant phenotype	25962623	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	11121396	GOA
located in Golgi membrane	IDA IDA: Inferred from direct assay	25962623	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	12447383	GOA
located in cytosol	IDA IDA: Inferred from direct assay	12447383	GOA
located in endosome to plasma membrane transport vesicle	IDA IDA: Inferred from direct assay	24859005	GOA
located in membrane	IDA IDA: Inferred from direct assay	12447383	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	12447383	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RAB6A Protein Structure

Ras

0
100
208 a.a.

Protein Preferred Names	Protein Names
ras-related protein Rab-6A	RAB6, member RAS oncogene family

RAB6A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RAB6A	P20340	GCC2	Homo sapiens	Q8IWJ2	X-Ray Diffraction	18243103
Intra	RAB6A	P20340	OCRL	Homo sapiens	Q01968	Y2H	16902405
Intra	RAB6A	P20340	OCRL	Homo sapiens	Q01968	Pull Down	16902405
Intra	RAB6A	P20340	PMM1	Homo sapiens	Q92871	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant RAB6A Proteins

Cat. No.	상품명	Accession	Purity
HY-P75997	RAB6A Protein, Human (His)	P20340-2 (M1-C208)	≥ 95%, as determined by reducing SDS-PAGE.

RAB6A Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P811099	RAB6A Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Cohen Syndrome	Pepper Syndrome COH1 Hypotonia, Obesity, And Prominent Incisors Coh Chs1, Formerly Norio Syndrome Obesity-Hypotonia Syndrome Prominent Incisors-Obesity-Hypotonia Syndrome Chs1 Hypotonia-Obesity-Prominent Incisors Stage 4s Neuroblastoma
Choroideremia	CHM Tcd Progressive Tapetochoroidal Dystrophy Choroidal Sclerosis Tapetochoroidal Dystrophy, Progressive Progressive Choroidal Atrophy Tapetochoroidal Dystrophy
Geroderma Osteodysplasticum	Gerodermia Osteodysplastica Geroderma Osteodysplastica GO Walt Disney Dwarfism Type Of Gerodermia Osteodysplastica
Pontocerebellar Hypoplasia, Type 2e	Pontocerebellar Hypoplasia Type 2 Pontocerebellar Hypoplasia Type 2e Pch2 PCH2E Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy Pontocerebellar Hypoplasia 2e Pcca2 Progressive Cerebello-Cerebral Atrophy Type 2 Doid:0112328 Hypoplasia, Pontocerebellar, Type 2e Pontocerebellar Hypoplasia, Type 2d Pontocerebellar Hypoplasia Type 2a
Cutis Laxa, Autosomal Recessive, Type Iia	ARCL2A Cutis Laxa With Joint Laxity And Retarded Development Cutis Laxa With Growth And Developmental Delay Cutis Laxa, Debre Type Cutis Laxa With Bone Dystrophy Arcl2 Cutis Laxa With Congenital Disorder Of Glycosylation Autosomal Recessive Cutis Laxa Type Iia Cutis Laxa, Autosomal Recessive Type 2a Cutis Laxa, Autosomal Recessive, 2a Cl Type Iia Cutis Laxa Autosomal Recessive Type Iia
Autosomal Recessive Cutis Laxa Type Ii Classic Type	Arcl2, Classic Type Arcl2, Debre Type Autosomal Recessive Cutis Laxa Type 2, Classic Type Autosomal Recessive Cutis Laxa Type 2, Debre Type
Legionnaire Disease	Legionnaires' Disease Legionnaires Disease Legionnaire Disease, Susceptibility To Legionella Legionella Pneumonia Infection By Legionella Pneumophilia Legionnaire'S Disease Legionellosis Legionaire Disease, Susceptibility To Legionnaires Pneumonia
Autosomal Recessive Cutis Laxa Type I	Autosomal Recessive Cutis Laxa Type 1 Cutis Laxa, Type 1 Cutis Laxa, Autosomal Recessive, Type I Cutis Laxa, Autosomal Recessive Type 1 Cutis Laxa, Autosomal Recessive Arcl1 Autosomal Recessive Cutis Laxa With Severe Systemic Involvement Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
Legionellosis	Legionella Infection Pontiac Fever Legionnaires' Disease Infection By Legionella Pneumophilia Legionella Pneumophila Infection
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS11574	RAB6A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19233	Rab6a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25722	Rab6a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RAB6A	MGD	MGI:894313
Felis catus	RAB6A	VGNC	VGNC:81951
Rattus norvegicus	RAB6A	RGD	RGD:619737
Macaca mulatta	RAB6A	VGNC	VGNC:107631
Canis familiaris	RAB6A	VGNC	VGNC:59055
Others	RAB6A	NCBI