1. Gene
  2. FARP1 - FERM, ARH/RhoGEF and pleckstrin domain protein 1 Gene

FARP1 - FERM, ARH/RhoGEF and pleckstrin domain protein 1 Gene

中文名称:FERM、ARH/RhoGEF 和 pleckstrin 结构域蛋白 1

种属: Homo sapiens

同用名: CDEP; GLCC1; PLEKHC2; PPP1R75; FARP1-IT1

基因 ID: 10160 | 基因类型: protein coding

关于 FARP1

Cytogenetic location: 13q32.2 Genomic coordinates (GRCh38): 13:98,142,172-98,455,176 (from NCBI)

This gene has 42 transcripts (splice variants), 281 orthologues and 10 paralogues. Ubiquitous expression in kidney (RPKM 19.9), thyroid (RPKM 13.0) and 24 other tissues.

功能概要

该基因编码的蛋白质包含一个 FERM (4.2、exrin、radixin、moesin) 结构域、一个 Dbl 同源结构域和两个 pleckstrin 同源结构域。这些结构域存在于连接细胞骨架和细胞膜的鸟嘌呤核苷酸交换因子和蛋白质中。编码的蛋白质在神经元中起作用以促进树突生长。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 11 月]

This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors and proteins that link the Cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

FARP1 基因产物(3)

mRNA Protein Name
NM_001001715.4 NP_001001715.2 FERM, ARHGEF and pleckstrin domain-containing protein 1 isoform 2
NM_001286839.2 NP_001273768.1 FERM, ARHGEF and pleckstrin domain-containing protein 1 isoform 3
NM_005766.4 NP_005757.1 FERM, ARHGEF and pleckstrin domain-containing protein 1 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 protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

FARP1 蛋白结构

FERM_N

FERM_N: FERM N-terminal domain (44 - 121)

FERM_M

FERM_M: FERM central domain (126 - 230)

FERM_C

FERM_C: FERM C-terminal PH-like domain (234 - 323)

FA

FA: FERM adjacent (FA) (329 - 372)

RhoGEF

RhoGEF: RhoGEF domain (544 - 726)

PH

PH: PH domain (761 - 855)

PH

PH: PH domain (935 - 1029)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1045 a.a.
蛋白主名 其他名称

FERM, ARHGEF and pleckstrin domain-containing protein 1

FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)

FARP1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
FARP1 Q9Y4F1 PIH1D1 Homo sapiens Q9NWS0 32296183
种属内
FARP1 Q9Y4F1 PIH1D1 Homo sapiens Q9NWS0 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Nystagmus 3, Congenital, Autosomal Dominant

NYS3

Congenital Nystagmus 3

Autosomal Dominant Congenital Nystagmus 3

Premature Ovarian Failure 18

POF18

Primary Ovarian Insufficiency 18

Ovarian Failure, Premature, Type 18

Pathologic Nystagmus

Nystagmus

Congenital Nystagmus

Nystagmus, Congenital

Nystagmus Congenital

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 FARP1 RGD RGD:1305346
Macaca mulatta FARP1 VGNC VGNC:72614
Mus musculus FARP1 MGD MGI:2446173
Felis catus FARP1 VGNC VGNC:62149
Bos taurus FARP1 VGNC VGNC:28865
Canis familiaris FARP1 VGNC VGNC:40730