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  2. PPP1R3F - protein phosphatase 1 regulatory subunit 3F Gene

PPP1R3F - protein phosphatase 1 regulatory subunit 3F Gene

中文名称:蛋白磷酸酶 1 调节亚基 3F

种属: Homo sapiens

同用名: R3F; HB2E; LL0XNC01-7P3.1

基因 ID: 89801 | 基因类型: protein coding

关于 PPP1R3F

This gene has 6 transcripts (splice variants), 112 orthologues and 6 paralogues. Broad expression in brain (RPKM 2.6), heart (RPKM 1.4) and 23 other tissues.

功能概要

该基因编码的蛋白质已被确定为几种 1 型蛋白磷酸酶 (PP1) 调节亚基之一。这些亚基中的一个或两个与保守的催化亚基一起可以形成 PP1 全酶,其中调节亚基的功能是调节底物特异性和/或靶向特定细胞区室。可变剪接导致多个转录本变体。[RefSeq 提供,2010 年 5 月]

This gene encodes a protein that has been identified as one of several type-1 protein Phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulatory subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

PPP1R3F 基因产物(2)

mRNA Protein Name
NM_001184745.2 NP_001171674.1 protein phosphatase 1 regulatory subunit 3F isoform 2
NM_033215.5 NP_149992.3 protein phosphatase 1 regulatory subunit 3F isoform 1
蛋白主名 其他名称

protein phosphatase 1 regulatory subunit 3F

protein phosphatase 1, regulatory (inhibitor) subunit 3F

关联疾病

疾病名称 别名
Joubert Syndrome 23

JBTS23

Joubert Syndrome, Type 23

Spinocerebellar Ataxia 29

Spinocerebellar Ataxia Type 29

SCA29

Cnpca

Cerebellar Vermis Aplasia

Aplasia Of Cerebellar Vermis

Acv

Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant

Spinocerebellar Ataxia 29, Congenital Nonprogressive

Congenital Nonprogressive Spinocerebellar Ataxia

Autosomal Dominant Congenital Nonprogressive Cerebellar Ataxia

Ataxia, Spinocerebellar, Type 29, Congenital Nonprogressive

Familial Aplasia Of The Vermis

Parkinsonism With Spasticity, X-Linked

X-Linked Parkinsonism-Spasticity Syndrome

XPDS

X-Linked Parkinsonism With Spasticity

Stocco Dos Santos Type X-Linked Intellectual Disability

X-Linked Intellectual Disability, Stocco Dos Santos Type

Stocco Dos Santos Syndrome

Sdsx

Stocco Dos Santos X-Linked Mental Retardation Syndrome

Spinocerebellar Ataxia 13

Spinocerebellar Ataxia Type 13

SCA13

Autosomal Dominant Cerebellar Ataxia With Intellectual Disability

Cerebellar Ataxia, Autosomal Dominant With Intellectual Disability

Spinocerebellar Ataxia-13

Ataxia, Spinocerebellar, Type 13

Spinocerebellar Ataxia 5

Spinocerebellar Ataxia Type 5

SCA5

Spinocerebellar Ataxia-5

Ataxia, Spinocerebellar, Type 5

Adenoiditis

Chronic Adenoiditis

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 PPP1R3F VGNC VGNC:33247
Mus musculus PPP1R3F MGD MGI:1859617
Canis familiaris PPP1R3F VGNC VGNC:44901
Rattus norvegicus PPP1R3F RGD RGD:1566398