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  2. PPP3CA - protein phosphatase 3 catalytic subunit alpha Gene

PPP3CA - protein phosphatase 3 catalytic subunit alpha Gene

中文名称:蛋白磷酸酶 3 催化亚基 α

种属: Homo sapiens

同用名: CALN; CCN1; CNA1; CALNA; DEE91; IECEE; PPP2B; ACCIID; CALNA1; IECEE1

基因 ID: 5530 | 基因类型: protein coding

关于 PPP3CA

Cytogenetic location: 4q24 Genomic coordinates (GRCh38): 4:101,023,418-101,347,526 (from NCBI)

This gene has 9 transcripts (splice variants), 229 orthologues, 12 paralogues and is associated with 6 phenotypes. Broad expression in brain (RPKM 54.0), prostate (RPKM 42.7) and 24 other tissues.

功能概要

启用多种功能,包括 ATPase 绑定活动;钙调蛋白结合活性;和钙调蛋白依赖性蛋白磷酸酶活性。参与多个过程,包括钙调神经磷酸酶-NFAT 信号级联;肽基丝氨酸去磷酸化;和对钙离子的反应。位于几种细胞成分中,包括细胞质;树突棘;和核质。神经钙蛋白复合物的一部分。与质膜的细胞质侧共定位。涉及发育和癫痫性脑病 91. 局灶性节段性肾小球硬化和精神分裂症的生物标志物。 [由基因组资源联盟提供,2022 年 4 月]

Enables several functions, including ATPase binding activity; Calmodulin binding activity; and calmodulin-dependent protein Phosphatase activity. Involved in several processes, including calcineurin-NFAT signaling cascade; peptidyl-serine dephosphorylation; and response to calcium ion. Located in several cellular components, including cytosol; dendritic spine; and nucleoplasm. Part of calcineurin complex. Colocalizes with cytoplasmic side of plasma membrane. Implicated in developmental and epileptic encephalopathy 91. Biomarker of focal segmental glomerulosclerosis and schizophrenia. [provided by Alliance of Genome Resources, Apr 2022]

PPP3CA 基因产物(3)

mRNA Protein Name
NM_000944.5 NP_000935.1 protein phosphatase 3 catalytic subunit alpha isoform 1
NM_001130691.2 NP_001124163.1 protein phosphatase 3 catalytic subunit alpha isoform 2
NM_001130692.2 NP_001124164.1 protein phosphatase 3 catalytic subunit alpha isoform 3

PPP3CA 蛋白结构

Metallophos

Metallophos: Calcineurin-like phosphoesterase (84 - 284)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 521 a.a.
蛋白主名 其他名称

protein phosphatase 3 catalytic subunit alpha

CAM-PRP catalytic subunit

重组 PPP3CA 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76759 Calcineurin A/PPP3CA Protein, Human (sf9, His) Q08209 (S2-Q521) ≥95%

关联疾病

疾病名称 别名
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development

ACCIID

Craniosynostosis-Microretrognathia-Severe Intellectual Disability Syndrome

Developmental And Epileptic Encephalopathy 91

Epileptic Encephalopathy, Infantile Or Early Childhood, 1

IECEE1

DEE91

Infantile Or Early Childhood Epileptic Encephalopathy 1

Encephalopathy, Epileptic, Infantile Or Early Childhood, Type 1

Autosomal Dominant Non-Syndromic Intellectual Disability
Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee

Pancreatic Ductal Adenocarcinoma

Ductal Adenocarcinoma Of The Pancreas

Osteomyelitis
Cardiomyopathy, Familial Hypertrophic, 10

Hypertrophic Cardiomyopathy 10

CMH10

Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2

Cardiomyopathy, Hypertrophic, 10

Cardiomyopathy, Familial Hypertrophic 10

Familial Hypertrophic Cardiomyopathy With Mid-Left Ventricular Chamber Type 2

Mvc2

Cardiomyopathy, Hypertrophic, Familial, Type 10

Endocardium Disease
Septic Arthritis

Infectious Arthritis

Arthritis, Infectious

Arthritis Septic

Arthritis, Bacterial

Flying Phobia

Aerophobia

Muscle Hypertrophy

MSLHP

Hypertrophy

Hypertrophy, Muscle

Contractural Arachnodactyly, Congenital

Congenital Contractural Arachnodactyly

Beals Syndrome

CCA

Beals-Hecht Syndrome

Distal Arthrogryposis Type 9

Arthrogryposis, Distal, Type 9

Da9

Arachnodactyly, Contractural Beals Type

Contractures, Multiple With Arachnodactyly

Ear Anomalies-Contractures-Dysplasia Of Bone With Kyphoscoliosis

Arthrogyroposis, Distal, Type 9

Distal Arthrogyropsis Type 9

Cca Syndrome

Arachnodactyly

Cataract 6, Multiple Types

Ctpp1

Cataract 6 Multiple Types

CTRCT6

Cataract, Posterior Polar, 1

Arcc2

Cataract, Age-Related Cortical, 2

Ctpa

Ctpp

Age Related Cortical Cataract 2

Posterior Polar Cataract 1

Posterior Polar Cataract, 1

Age-Related Cortical Cataract 2

Cataract Posterior Polar 1

Cornea Plana

Flat Cornea

Staphyloenterotoxemia

Staphylococcal Food Poisoning

Staphylococcal Toxaemia Due To Food

Staphyloenterotoxicosis

Benign Essential Hypertension
Infective Endocarditis

Bacterial Endocarditis

Endocarditis, Infective

Infectious Endocarditis

Endocarditis Infective

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Commensal Bacterial Infectious Disease
Impetigo
Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

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
Mus musculus PPP3CA MGD MGI:107164
Macaca mulatta PPP3CA VGNC VGNC:76382
Canis familiaris PPP3CA VGNC VGNC:44918
Rattus norvegicus PPP3CA RGD RGD:3382
Bos taurus PPP3CA VGNC VGNC:33265
Felis catus PPP3CA VGNC VGNC:69019
Others PPP3CA NCBI