2. Gene
  3. RAB6A - RAB6A, member RAS oncogene family Gene

RAB6A - RAB6A, member RAS oncogene family Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as RAB6

Gene ID: 5870 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

Ras: Ras family (15 - 173)

  • 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 Reference
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. Product Name Accession Purity
HY-P75997 RAB6A Protein, Human (His) P20340-2 (M1-C208) ≥95%

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS11574 RAB6A Human Pre-designed siRNA Set A Pre-designed Sets / 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