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  2. PPP3CA - protein phosphatase 3 catalytic subunit alpha Gene

PPP3CA - protein phosphatase 3 catalytic subunit alpha Gene

Homo sapiens

Also known as CALN; CCN1; CNA1; CALNA; DEE91; IECEE; PPP2B; ACCIID; CALNA1; IECEE1

Gene ID: 5530 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

Metallophos

Metallophos: Calcineurin-like phosphoesterase (84 - 284)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 521 a.a.
Protein Preferred Names Protein Names

protein phosphatase 3 catalytic subunit alpha

CAM-PRP catalytic subunit

Recombinant PPP3CA Proteins

Cat. No. Product Name Accession Purity
HY-P76759 Calcineurin A/PPP3CA Protein, Human (sf9, His) Q08209-1 (S2-Q521) ≥95%

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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