2. Gene
  3. RAB33B - RAB33B, member RAS oncogene family Gene

RAB33B - RAB33B, member RAS oncogene family Gene

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

中文名称：RAB33B，RAS 致癌基因家族成员

种属: Homo sapiens

同用名: SMC2

基因 ID: 83452 | 基因类型: protein coding

关于 RAB33B

Cytogenetic location: 4q31.1 Genomic coordinates (GRCh38): 4:139,438,376-139,476,609 (from NCBI)

This gene has 3 transcripts (splice variants), 272 orthologues, 68 paralogues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 5.5), ovary (RPKM 5.0) and 25 other tissues.

功能概要

该基因编码 Rab GTPase 家族的一种小 GTP 结合蛋白，其成员在蛋白质分泌和内吞作用过程中的囊泡运输中发挥作用。 Rab GTP 酶是活性膜相关蛋白，在 GTP 结合状态下募集效应蛋白，在 GDP 结合状态下募集无活性胞质蛋白。由该基因编码的蛋白质普遍表达，并与高尔基体到高尔基体酶的内质网循环有关。此外，这种蛋白质调节高尔基体内平衡并协调高尔基体内逆行运输。该基因的等位基因变异与 Dyggve-Melchior-Clausen 综合征和 Smith-McCort 发育不良 2 相关，它们是常染色体隐性遗传的以骨骼异常为特征的脊柱骨干骺端发育不良。[RefSeq 提供，2016 年 9 月]

This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi Enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016]

RAB33B 基因产物(1)

mRNA Protein Name
NM_031296.3 NP_112586.1 ras-related protein Rab-33B

RAB33B 蛋白结构

Ras

Ras: Ras family (35 - 199)

  • 0
  • 100
  • 200
  • 229 a.a.
蛋白主名 其他名称

ras-related protein Rab-33B

RAB33B 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
RAB33B Q9H082 SIAH1 Homo sapiens Q8IUQ4-2
Y2H Prey Pooling
32296183
种属内
RAB33B Q9H082 SIAH1 Homo sapiens Q8IUQ4-2
Y2H Array
32296183
种属内
RAB33B Q9H082 RUFY2 Homo sapiens Q8WXA3-4
Y2H Prey Pooling
32296183
种属内
RAB33B Q9H082 ATG16L1 Homo sapiens Q676U5
Anti Tag CoIP
33961781
种属内
RAB33B Q9H082 ATG16L1 Homo sapiens Q676U5
Y2H Array
32296183
种属内
RAB33B Q9H082 ATG16L1 Homo sapiens Q676U5
Y2H Prey Pooling
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Smith-Mccort Dysplasia 2

SMC2

Dysplasia, Smith-Mccort, Type 2
Smith-Mccort Dysplasia 1

Smith-Mccort Dysplasia

SMC1

Smc

Smith Mccort Dysplasia

Smith-Mccort Dwarfism
Dyggve-Melchior-Clausen Disease

Dyggve-Melchior-Clausen Syndrome

DMC

Dmc Disease

Pseudo-Morquio Disease Type I

Dmc Syndrome
Microcephaly And Chorioretinopathy 2
Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv
Spondyloepiphyseal Dysplasia Tarda, X-Linked

Spondyloepiphyseal Dysplasia Tarda

X-Linked Spondyloepiphyseal Dysplasia Tarda

SEDT

Sed Tarda, X-Linked

Spondyloepiphyseal Dysplasia, Late

Spondyloepiphyseal Dysplasia Tarda X-Linked

Sed

X Linked Spondyloepiphyseal Dysplasia Tarda

X-Linked Spondyloepiphyseal Dysplasia

Late Onset Spondyloepiphyseal Dysplasia

Sed Tarda

X-Linked Sed

X-Linked Sedt

Dysplasia, Spondyloepiphyseal, Tarda

Spondyloepiphyseal Dysplasia
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
Legionellosis

Legionella Infection

Pontiac Fever

Legionnaires' Disease

Infection By Legionella Pneumophilia

Legionella Pneumophila Infection
Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal
Geroderma Osteodysplasticum

Gerodermia Osteodysplastica

Geroderma Osteodysplastica

GO

Walt Disney Dwarfism

Type Of Gerodermia Osteodysplastica
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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-RS11547 RAB33B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus RAB33B VGNC VGNC:107433
Canis familiaris RAB33B VGNC VGNC:45276
Bos taurus RAB33B VGNC VGNC:33643
Macaca mulatta RAB33B VGNC VGNC:81532
Rattus norvegicus RAB33B RGD RGD:1308353
Mus musculus RAB33B MGD MGI:1330805
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