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  2. RAB3IL1 - RAB3A interacting protein like 1 Gene

RAB3IL1 - RAB3A interacting protein like 1 Gene

中文名称:RAB3A 相互作用蛋白 1

种属: Homo sapiens

同用名: GRAB

基因 ID: 5866 | 基因类型: protein coding

关于 RAB3IL1

This gene has 6 transcripts (splice variants), 197 orthologues and 1 paralogue. Broad expression in testis (RPKM 14.8), ovary (RPKM 10.2) and 24 other tissues.

功能概要

该基因编码 Ras 相关蛋白 Rab3A 的鸟嘌呤核苷酸交换因子。编码的蛋白质结合 Rab3a 和肌醇六磷酸激酶 InsP6K1。可变剪接导致多个转录本变体。已在 7 号染色体上鉴定出一个相关的假基因。[RefSeq 提供,2012 年 11 月]

This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2012]

RAB3IL1 基因产物(2)

mRNA Protein Name
NM_001271686.2 NP_001258615.1 guanine nucleotide exchange factor for Rab-3A isoform 2
NM_013401.4 NP_037533.2 guanine nucleotide exchange factor for Rab-3A isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
20937701 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 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

RAB3IL1 蛋白结构

Sec2p

Sec2p: GDP/GTP exchange factor Sec2p (88 - 166)

  • 0
  • 100
  • 200
  • 300
  • 382 a.a.
蛋白主名 其他名称

guanine nucleotide exchange factor for Rab-3A

RAB3A interacting protein (rabin3)-like 1

关联疾病

疾病名称 别名
Spinocerebellar Ataxia 20

Spinocerebellar Ataxia Type 20

SCA20

Spinocerebellar Ataxia With Dysphonia

Spinocerebellar Ataxia With Spasmodic Cough

Chromosome 11q12 Duplication Syndrome, 260-Kb

Chromosome 11q12 Duplication Syndrome 260-Kb

Achondrogenesis

Achondrogenesis Syndrome

Autoimmune Lymphoproliferative Syndrome

ALPS

Canale-Smith Syndrome

Autoimmune Lymphoproliferative Syndrome, Type Ia

Autoimmune Lymphoproliferative Syndrome, Type Ib

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

Css

Autoimmune Lymphoproliferative Syndrome, Type 1b

Autoimmune Lymphoproliferative Syndrome, Type 1a

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

Fas Deficiency

Autoimmune Lymphoproliferative Syndrome 1a

ALPS1A

Autoimmune Lymphoproliferative Syndrome Type Ia

Autoimmune Lymphoproliferative Syndrome 1b

ALPS1B

Autoimmune Lymphoproliferative Syndrome Type Ib

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 RAB3IL1 RGD RGD:619764
Macaca mulatta RAB3IL1 VGNC VGNC:76638
Felis catus RAB3IL1 VGNC VGNC:69204
Canis familiaris RAB3IL1 VGNC VGNC:45288
Mus musculus RAB3IL1 MGD MGI:1922010
Bos taurus RAB3IL1 VGNC VGNC:33655