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  3. RAB6A - RAB6A, member RAS oncogene family Gene

RAB6A - RAB6A, member RAS oncogene family Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：RAB6A，成员 RAS 致癌基因家族

种属: Homo sapiens

同用名: RAB6

基因 ID: 5870 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 RAB 家族的一个成员，该家族属于小 GTPase 超家族。 RAB 家族的 GTP 酶与各种效应子结合，以调节运输载体与受体隔室的靶向和融合。这种蛋白质位于高尔基体，它调节逆行 (从早期内体和高尔基体到内质网) 和顺行 (从高尔基体到质膜) 方向的运输。在这些过程中，肌球蛋白 II 是这种蛋白质的效应物。该蛋白还通过与细胞蛋白 Bicaudal D1 相互作用参与人巨细胞病毒 (HCMV) 的组装，Bicaudal D1 与 HCMV 病毒体外皮蛋白 pp150 相互作用。已经鉴定出编码不同同种型的多个选择性剪接的转录物变体。[RefSeq 提供，2011 年 8 月]

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 基因产物(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

RAB6A 蛋白结构

Ras

Ras: Ras family (15 - 173)

  • 0
  • 100
  • 208 a.a.
蛋白主名 其他名称

ras-related protein Rab-6A

RAB6, member RAS oncogene family

重组 RAB6A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75997 RAB6A Protein, Human (His) P20340-2 (M1-C208) ≥95%

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11574 RAB6A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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