1. Gene
  2. RAPGEFL1 - Rap guanine nucleotide exchange factor like 1 Gene

RAPGEFL1 - Rap guanine nucleotide exchange factor like 1 Gene

中文名称:Rap 鸟嘌呤核苷酸交换因子 1

种属: Homo sapiens

同用名: Link-GEFII

基因 ID: 51195 | 基因类型: protein coding

关于 RAPGEFL1

This gene has 11 transcripts (splice variants), 195 orthologues and 24 paralogues. Biased expression in skin (RPKM 52.1), esophagus (RPKM 22.9) and 7 other tissues.

功能概要

预测可启用胍基核苷酸交换因子活性。预测参与 G 蛋白偶联受体信号通路和神经系统发育。预测位于膜中。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in G protein-coupled receptor signaling pathway and nervous system development. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

RAPGEFL1 基因产物(3)

mRNA Protein Name
NM_001303533.2 NP_001290462.1 rap guanine nucleotide exchange factor-like 1 isoform 1
NM_001303534.3 NP_001290463.1 rap guanine nucleotide exchange factor-like 1 isoform 2
NM_016339.6 NP_057423.2 rap guanine nucleotide exchange factor-like 1 isoform 3

RAPGEFL1 蛋白结构

RasGEF

RasGEF: RasGEF domain (217 - 398)

  • 0
  • 100
  • 200
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  • 400
  • 456 a.a.
蛋白主名 其他名称

rap guanine nucleotide exchange factor-like 1

Link guanine nucleotide exchange factor II

关联疾病

疾病名称 别名
Deafness, Autosomal Dominant 28

DFNA28

Autosomal Dominant Nonsyndromic Deafness 28

Autosomal Dominant Deafness 28

Deafness, Autosomal Dominant, 28

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28

Deafness, Autosomal Dominant, Type 28

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
Bos taurus RAPGEFL1 VGNC VGNC:33727
Felis catus RAPGEFL1 VGNC VGNC:64494
Rattus norvegicus RAPGEFL1 RGD RGD:1563269
Macaca mulatta RAPGEFL1 VGNC VGNC:76501
Mus musculus RAPGEFL1 MGD MGI:3611446