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  2. PPP1R12C - protein phosphatase 1 regulatory subunit 12C Gene

PPP1R12C - protein phosphatase 1 regulatory subunit 12C Gene

中文名称:蛋白磷酸酶 1 调节亚基 12C

种属: Homo sapiens

同用名: p84; p85; AAVS1; LENG3; MBS85

基因 ID: 54776 | 基因类型: protein coding

关于 PPP1R12C

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:55,090,918-55,117,637 (from NCBI)

This gene has 9 transcripts (splice variants), 176 orthologues and 3 paralogues. Ubiquitous expression in testis (RPKM 32.8), endometrium (RPKM 32.5) and 25 other tissues.

功能概要

该基因编码肌球蛋白磷酸酶的一个亚基。编码的蛋白质调节蛋白磷酸酶 1 δ 的催化活性和肌动蛋白细胞骨架的组装。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2012 年 10 月]

The gene encodes a subunit of myosin Phosphatase. The encoded protein regulates the catalytic activity of protein Phosphatase 1 delta and assembly of the actin Cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

PPP1R12C 基因产物(2)

mRNA Protein Name
NM_001271618.2 NP_001258547.1 protein phosphatase 1 regulatory subunit 12C isoform b
NM_017607.4 NP_060077.1 protein phosphatase 1 regulatory subunit 12C isoform a
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
12080061 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

PPP1R12C 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (58 - 163)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (217 - 283)

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

protein phosphatase 1 regulatory subunit 12C

leukocyte receptor cluster (LRC) encoded novel gene 3

关联疾病

疾病名称 别名
Granulomatous Disease, Chronic, X-Linked

CGDX

Chronic Granulomatous Disease, X-Linked

X-Linked Chronic Granulomatous Disease

Cgd

Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked

Cdgx

X-Linked Chronic Cytochrome B-Negative Granulomatous Disease

Chronic Granulomatous Disease Cytochrome B-Negative X-Linked

Chronic Granulomatous Disease Cytochrome B-Positive X-Linked

Granulomatous Disease, Chronic, X-Linked, Variant

Phagocyte Bactericidal Dysfunction

Phagocytic Dysfunction

Sulfamethoxazole Allergy

Smx Allergy

Smz Allergy

Sulphamethoxazole Allergy

Brachydactyly, Type D

Brachydactyly Type D

BDD

Stub Thumb

Brachydactyly D

Hemophilia B

Christmas Disease

Factor Ix Deficiency

F9 Deficiency

HEMB

Plasma Thromboplastin Component Deficiency

Congenital Factor Ix Deficiency

Mild Hemophilia B

Severe Hemophilia B

Congenital Factor Ix Disorder

Deficiency, Functional Factor Ix

Hem B

Mild Congenital F9 Deficiency

Mild Congenital Factor Ix Deficiency

Moderate Hemophilia B

Moderate Congenital F9 Deficiency

Moderate Congenital Factor Ix Deficiency

Severe Congenital F9 Deficiency

Severe Congenital Factor Ix Deficiency

Bleeding Disorder In Hemophilia B Carriers

Congenital F9 Deficiency

Recessive X-Linked Hemophilia B

Chronic Granulomatous Disease

Cgd

Granulomatous Disease, Chronic

Autosomal Recessive Chronic Granulomatous Disease

X-Linked Chronic Granulomatous Disease

Bridges-Good Syndrome

Congenital Dysphagocytosis

Quie Syndrome

Chronic Septic Granulomatosis

Chronic Granulomatous Disorder

Granulomatous Disease Chronic

Granulomatous Disease, Chronic, X-Linked

Recessive Dystrophic Epidermolysis Bullosa

Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis

Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type

Rdeb, Hallopeau-Siemens Type

Severe Generalized Rdeb

Severe Generalized Recessive Dystrophic Epidermolysis Bullosa

Rdeb Generalisata Gravis

Rdeb, Severe Generalized

Rdeb-Sev Gen

Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized

Hallopeau-Siemens Disease

Factor Viii Deficiency

Autosomal Hemophilia A

Hemophilia A

Autosomal Factor Viii Deficiency

Classic Hemophilia A

Congenital Factor Viii Disorder

Subhemophilia

Factor 8 Deficiency, Congenital

Factor Viii

Hemoglobinopathy

Hemoglobinopathies

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Macaca mulatta PPP1R12C VGNC VGNC:104707
Rattus norvegicus PPP1R12C RGD RGD:1584883
Bos taurus PPP1R12C VGNC VGNC:52229
Felis catus PPP1R12C VGNC VGNC:64317
Mus musculus PPP1R12C MGD MGI:1924258
Canis familiaris PPP1R12C VGNC VGNC:44880