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  2. RAB34 - RAB34, member RAS oncogene family Gene

RAB34 - RAB34, member RAS oncogene family Gene

中文名称:RAB34,RAS 致癌基因家族成员

种属: Homo sapiens

同用名: RAH; NARR; RAB39

基因 ID: 83871 | 基因类型: protein coding

关于 RAB34

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:28,714,281-28,718,428 (from NCBI)

This gene has 26 transcripts (splice variants), 191 orthologues and 68 paralogues. Ubiquitous expression in ovary (RPKM 30.9), endometrium (RPKM 28.1) and 23 other tissues.

功能概要

该基因编码属于 RAB 蛋白家族的一种蛋白,RAB 蛋白是参与蛋白转运的小 GTP 酶。该家族成员是分泌途径的高尔基体结合成员,参与溶酶体的重新定位和巨胞饮作用的激活。该基因的可变剪接导致多个转录变体。选择性剪接的转录物变体产生九个氨基酸残基重复 (NARR) 蛋白,这是一种功能不同的核仁蛋白,由不同的阅读框产生。[RefSeq 提供,2016 年 12 月]

This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the activation of macropinocytosis. Alternative splicing of this gene results in multiple transcript variants. An alternatively spliced transcript variant produces the nine-amino acid residue-repeats (NARR) protein, which is a functionally distinct nucleolar protein resulting from a different reading frame. [provided by RefSeq, Dec 2016]

RAB34 基因产物(9)

mRNA Protein Name
NM_001142624.2 NP_001136096.2 ras-related protein Rab-34 isoform 2
NM_001142625.2 NP_001136097.2 ras-related protein Rab-34 isoform 3
NM_001144942.2 NP_001138414.1 ras-related protein Rab-34 isoform 4
NM_001144943.1 NP_001138415.1 ras-related protein Rab-34 isoform 5
NM_001256276.2 NP_001243205.1 ras-related protein Rab-34 isoform 6
NM_001256277.2 NP_001243206.1 ras-related protein Rab-34 isoform 1
NM_001256278.1 NP_001243207.1 ras-related protein Rab-34 isoform 7
NM_001256281.3 NP_001243210.1 ras-related protein Rab-34 isoform NARR
NM_031934.6 NP_114140.4 ras-related protein Rab-34 isoform 1
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 GTP-dependent protein binding IPI
IPI: 通过物理相互作用推断
16138900 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16138900 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
24056301 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi to plasma membrane protein transport IDA
IDA: 通过直接分析推断
17881736 GOA
involved in antigen processing and presentation IMP
IMP: 通过突变表型推断
19717423 GOA
involved in cilium assembly IMP
IMP: 通过突变表型推断
37384395 GOA
involved in lysosome localization IDA
IDA: 通过直接分析推断
17881736 GOA
NOT involved in macropinocytosis IDA
IDA: 通过直接分析推断
17881736 GOA
involved in phagosome maturation IMP
IMP: 通过突变表型推断
21255211 GOA
involved in phagosome-lysosome fusion IMP
IMP: 通过突变表型推断
21255211 GOA
involved in protein localization to plasma membrane IDA
IDA: 通过直接分析推断
17881736 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
16138900 GOA
located in Golgi cisterna IDA
IDA: 通过直接分析推断
17881736 GOA
located in Golgi stack IDA
IDA: 通过直接分析推断
17881736 GOA
located in centriole IDA
IDA: 通过直接分析推断
37384395 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
16138900 GOA
located in phagocytic vesicle IDA
IDA: 通过直接分析推断
21255211 GOA
NOT located in ruffle membrane IDA
IDA: 通过直接分析推断
17881736 GOA
located in vesicle IDA
IDA: 通过直接分析推断
17881736 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

RAB34 蛋白结构

Ras

Ras: Ras family (54 - 213)

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

ras-related protein Rab-34

nine amino-acid residue-repeats

关联疾病

疾病名称 别名
N Syndrome

NSX

Intellectual Disability, Malformations, Chromosome Breakage, And Development Of T-Cell Leukemia

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
Canis familiaris RAB34 VGNC VGNC:45277
Rattus norvegicus RAB34 RGD RGD:1305058
Macaca mulatta RAB34 VGNC VGNC:81533
Bos taurus RAB34 VGNC VGNC:106887
Mus musculus RAB34 MGD MGI:104606