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PPP1R12C - protein phosphatase 1 regulatory subunit 12C Gene

Also Known as p84; p85; AAVS1; LENG3; MBS85

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54776

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12080061	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PPP1R12C Protein Structure

Ank_2

0
200
400
600
782 a.a.

Protein Preferred Names	Protein Names
protein phosphatase 1 regulatory subunit 12C	leukocyte receptor cluster (LRC) encoded novel gene 3

PPP1R12C Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PPP1R12C	Q9BZL4	SMAD3	Homo sapiens	P84022	Anti Tag CoIP	21988832
Intra	PPP1R12C	Q9BZL4	NXF1	Homo sapiens	Q9UBU9	Validated Y2H	32296183
Intra	PPP1R12C	Q9BZL4	ATP6V1H	Homo sapiens	Q9UI12	Validated Y2H	32296183
Intra	PPP1R12C	Q9BZL4	IMP3	Homo sapiens	Q9NV31	Validated Y2H	32296183
Intra	PPP1R12C	Q9BZL4	AIRIM	Homo sapiens	Q9NX04	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10980	PPP1R12C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	PPP1R12C	NCBI