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  2. PPP1R18 - protein phosphatase 1 regulatory subunit 18 Gene

PPP1R18 - protein phosphatase 1 regulatory subunit 18 Gene

中文名称:蛋白磷酸酶 1 调节亚基 18

种属: Homo sapiens

同用名: HKMT1098; KIAA1949

基因 ID: 170954 | 基因类型: protein coding

关于 PPP1R18

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:30,676,389-30,688,391 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 121 orthologues and 1 paralogue. Broad expression in lymph node (RPKM 31.8), appendix (RPKM 27.5) and 24 other tissues.

功能概要

蛋白磷酸酶 1 (PP1;参见 MIM 176875) 与调节亚基相互作用,调节亚基将酶靶向不同的细胞位置并改变其对特定底物的活性。 Phostensin 是一种调节亚基,将 PP1 靶向 F-肌动蛋白 (参见 MIM 102610) 细胞骨架 (Kao 等人,2007 [PubMed 17374523]) 。[OMIM 提供,2008 年 3 月]

Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the Enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see MIM 102610) Cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM, Mar 2008]

PPP1R18 基因产物(2)

mRNA Protein Name
NM_001134870.2 NP_001128342.1 phostensin
NM_133471.4 NP_597728.1 phostensin
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
21516116 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

PPP1R18 蛋白结构

Phostensin_N

Phostensin_N: PP1-regulatory protein, Phostensin N-terminal (28 - 116)

Phostensin

Phostensin: Phostensin PP1-binding and SH3-binding region (437 - 561)

  • 0
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  • 500
  • 613 a.a.
蛋白主名 其他名称

phostensin

protein phosphatase 1 F-actin cytoskeleton targeting subunit

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 79

DFNB79

Autosomal Recessive Nonsyndromic Deafness 79

Autosomal Recessive Deafness 79

Deafness, Autosomal Recessive, 79

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 79

Deafness, Autosomal Recessive, Type 79

Schizophrenia 4

SCZD4

Schizophrenia, Susceptibility To, 4

Schizophrenia Susceptibility Locus, Chromosome 22q11-Related

Schizophrenia Susceptibility Locus Chromosome 22-Related

Schizophrenia, Type 4

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
Felis catus PPP1R18 VGNC VGNC:102489
Macaca mulatta PPP1R18 VGNC VGNC:104421
Bos taurus PPP1R18 VGNC VGNC:33233
Mus musculus PPP1R18 MGD MGI:1923698
Rattus norvegicus PPP1R18 RGD RGD:1309543
Canis familiaris PPP1R18 VGNC VGNC:57230