1. Gene
  2. RAP1B - RAP1B, member of RAS oncogene family Gene

RAP1B - RAP1B, member of RAS oncogene family Gene

中文名称:RAP1B,RAS 致癌基因家族成员

种属: Homo sapiens

同用名: K-REV; RAL1B

基因 ID: 5908 | 基因类型: protein coding

关于 RAP1B

Cytogenetic location: 12q15 Genomic coordinates (GRCh38): 12:68,610,899-68,671,901 (from NCBI)

This gene has 33 transcripts (splice variants), 190 orthologues, 35 paralogues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 83.8), appendix (RPKM 79.8) and 25 other tissues.

功能概要

该基因编码 Ras 样小 GTP 结合蛋白超家族的成员。该家族的成员调节多种细胞过程,包括细胞粘附、生长和分化。这种蛋白质定位于细胞膜,并已显示可调节整合素介导的细胞信号传导。这种蛋白质还在调节血小板中由外而内的信号传导中发挥作用。交替剪接导致多个转录本变体。在 3、5、6 和 9 号染色体上发现了该基因的假基因。[RefSeq 提供,2011 年 10 月]

This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011]

RAP1B 基因产物(6)

mRNA Protein Name
NM_001010942.3 NP_001010942.1 ras-related protein Rap-1b isoform 1 precursor
NM_001251917.2 NP_001238846.1 ras-related protein Rap-1b isoform 2
NM_001251918.2 NP_001238847.1 ras-related protein Rap-1b isoform 2
NM_001251921.2 NP_001238850.1 ras-related protein Rap-1b isoform 3
NM_001251922.2 NP_001238851.1 ras-related protein Rap-1b isoform 4
NM_015646.6 NP_056461.1 ras-related protein Rap-1b isoform 1 precursor
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
18309292 GOA
enables GTP binding IDA
IDA: 通过直接分析推断
18309292 GOA
enables GTPase activity IDA
IDA: 通过直接分析推断
18309292 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16452984 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
23209302 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Rap protein signal transduction IMP
IMP: 通过突变表型推断
21840392 GOA
involved in cellular response to cAMP IDA
IDA: 通过直接分析推断
21840392 GOA
involved in establishment of endothelial barrier IMP
IMP: 通过突变表型推断
21840392 GOA
NOT involved in microvillus assembly IMP
IMP: 通过突变表型推断
22797597 GOA
involved in positive regulation of integrin activation IMP
IMP: 通过突变表型推断
19461049 GOA
involved in regulation of cell junction assembly IMP
IMP: 通过突变表型推断
21840392 GOA
involved in regulation of establishment of cell polarity IMP
IMP: 通过突变表型推断
20332120 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell-cell junction IDA
IDA: 通过直接分析推断
20332120 GOA
located in cytosol IDA
IDA: 通过直接分析推断
18582561 GOA
located in lipid droplet IDA
IDA: 通过直接分析推断
14741744 GOA
NOT located in membrane raft IDA
IDA: 通过直接分析推断
18582561 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

RAP1B 蛋白结构

Ras

Ras: Ras family (5 - 166)

  • 0
  • 100
  • 184 a.a.
蛋白主名 其他名称

ras-related protein Rap-1b

GTP-binding protein smg p21B

关联疾病

疾病名称 别名
Cerebral Cavernous Malformations

Cerebral Cavernous Malformation

Cavernous Malformations Of Cns And Retina

Cerebral Cavernous Malformation 1

Cavernous Angiomatous Malformations

Cerebral Capillary Malformations

CCM

Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

Familial Cavernous Angioma

Cavernous Angioma

Familial Cerebral Cavernous Malformation

Cerebral Cavernous Malformations 1

Cavernous Angioma, Familial

Cam

Cerebral Cavernous Malformations-1

Cavernoma

Central Nervous System Cavernous Hemangioma

Cerebral Cavernous Hemangioma

Familial Cavernous Hemangioma

Familial Cavernous Malformation

Familial Cerebral Cavernous Angioma

Intracerebral Cavernous Hemangioma

CCM1

Cavernous Hemangioma Of The Brain

Cerebral Cavernoma

Cerebral Cavernous Malformations, Type 1

Hemangioma, Cavernous, Central Nervous System

Hemangioma, Cavernous

Angioma, Cavernous

Cervical Non-Keratinizing Squamous Cell Carcinoma
Cerebrocostomandibular Syndrome

Cerebro-Costo-Mandibular Syndrome

CCMS

Rib Gap Defects With Micrognathia

Ccm Syndrome

Cavernous Hemangioma

Hemangioma, Cavernous

Cavernoma

Cavernous Haemangioma

Babesiosis

Babesiasis

Infection By Babesia

Piroplasmosis

Human Babesiosis

Babesia Parasite Infection

Piroplasma Infection

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

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
Rattus norvegicus RAP1B RGD RGD:620577
Mus musculus RAP1B MGD MGI:894315
Canis familiaris RAP1B VGNC VGNC:108214