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  2. RAB8B - RAB8B, member RAS oncogene family Gene

RAB8B - RAB8B, member RAS oncogene family Gene

中文名称:RAB8B,RAS 致癌基因家族成员

种属: Homo sapiens

基因 ID: 51762 | 基因类型: protein coding

关于 RAB8B

Cytogenetic location: 15q22.2 Genomic coordinates (GRCh38): 15:63,189,606-63,267,776 (from NCBI)

This gene has 5 transcripts (splice variants), 254 orthologues and 68 paralogues. Ubiquitous expression in bone marrow (RPKM 21.6), lymph node (RPKM 18.0) and 24 other tissues.

功能概要

RAB 蛋白,如 RAB8B,是低分子量单体 GTP 酶,定位于不同膜结合细胞器的细胞质表面。 RAB 蛋白通过帮助囊泡与其靶膜的对接和/或融合在细胞内囊泡运输中发挥作用 (Chen 等人总结,1997 [PubMed 9030196]) 。[OMIM 提供,2010 年 11 月]

RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010]

RAB8B 基因产物(1)

mRNA Protein Name
NM_016530.3 NP_057614.1 ras-related protein Rab-8B
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GDP binding IDA
IDA: 通过直接分析推断
20937701 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17646400 GOA
enables signaling receptor binding IPI
IPI: 通过物理相互作用推断
18346465 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in antigen processing and presentation IMP
IMP: 通过突变表型推断
19717423 GOA
NOT involved in cilium assembly IMP
IMP: 通过突变表型推断
17646400 GOA
involved in protein import into peroxisome membrane IDA
IDA: 通过直接分析推断
18346465 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endosome membrane IDA
IDA: 通过直接分析推断
32344433 GOA
located in peroxisomal membrane IDA
IDA: 通过直接分析推断
18346465 GOA
located in phagocytic vesicle IDA
IDA: 通过直接分析推断
21255211 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

RAB8B 蛋白结构

Ras

Ras: Ras family (10 - 170)

  • 0
  • 100
  • 207 a.a.
蛋白主名 其他名称

ras-related protein Rab-8B

RAB-8b protein

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 9

Auditory Neuropathy, Autosomal Recessive, 1

Neurosensory Nonsyndromic Recessive Deafness 9

DFNB9

Nsrd9

Autosomal Recessive Nonsyndromic Deafness 9

Autosomal Recessive Deafness 9

Nrsd9

AUNB1

Nonsyndromic Auditory Neuropathy Autosomal Recessive

Nsran

Deafness, Autosomal Recessive, 9

Deafness Neurosensory Autosomal Recessive 9

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9

Non-Syndromic Recessive Hearing Loss 9

Deafness, Autosomal Recessive, Type 9

Auditory Neuropathy, Nonsyndromic Recessive

Oguchi Disease 2

Oguchi Disease-2

CSNBO2

Night Blindness, Congenital Stationary, Oguchi Type 2

Congenital Stationary Night Blindness Oguchi Type 2

Microvillus Inclusion Disease

Congenital Microvillous Atrophy

Intractable Diarrhea Of Infancy

Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities

Davidson Disease

Microvillous Inclusion Disease

Congenital Microvillus Atrophy

Mvid

Diarrhea 2 With Microvillus Atrophy

Mvd

Congenital Familial Protracted Diarrhea

Davidson'S Disease

Familial Enteropathy, Microvillus

Microvillus Atrophy, Congenital

Congenital Enteropathy

Familial Protracted Enteropathy

Microvillous Atrophy

Microvillus Atrophy With Diarrhea 2

Idi

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta RAB8B VGNC VGNC:81550
Bos taurus RAB8B VGNC VGNC:33663
Mus musculus RAB8B MGD MGI:2442982
Felis catus RAB8B VGNC VGNC:97595
Canis familiaris RAB8B VGNC VGNC:45296
Rattus norvegicus RAB8B RGD RGD:628764