PPP1R12A - protein phosphatase 1 regulatory subunit 12A Gene

Homo sapiens

Also known as MBS; GUBS; M130; MYPT1

Gene ID: 4659 | Gene type: protein coding

About PPP1R12A

Cytogenetic location: 12q21.2-q21.31 Genomic coordinates (GRCh38): 12:79,773,563-79,935,460 (from NCBI)

This gene has 23 transcripts (splice variants), 205 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in endometrium (RPKM 18.7), esophagus (RPKM 16.4) and 24 other tissues.

Summary

Myosin Phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin Phosphatase, is one of the subunits of myosin Phosphatase. Myosin Phosphatase regulates the interaction of actin and Myosin downstream of the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in Myosin light chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and Myosin in nonmuscle cells. The guanosine triphosphate (GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) of myosin Phosphatase, which regulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin Phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin Phosphatase through the action of Rho-kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]

PPP1R12A Products(5)

mRNA	Protein	Name
NM_001143885.2	NP_001137357.1	protein phosphatase 1 regulatory subunit 12A isoform a
NM_001143886.2	NP_001137358.1	protein phosphatase 1 regulatory subunit 12A isoform b
NM_001244990.2	NP_001231919.1	protein phosphatase 1 regulatory subunit 12A isoform c
NM_001244992.1	NP_001231921.1	protein phosphatase 1 regulatory subunit 12A isoform d
NM_002480.3	NP_002471.1	protein phosphatase 1 regulatory subunit 12A isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 14-3-3 protein binding	IDA IDA: Inferred from direct assay	20354225	GOA
enables enzyme inhibitor activity	IDA IDA: Inferred from direct assay	19245366	GOA
enables phosphatase regulator activity	IDA IDA: Inferred from direct assay	20354225	GOA
enables phosphatase regulator activity	IMP IMP: Inferred from mutant phenotype	18477460	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11067852	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	18477460	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in centrosome cycle	IMP IMP: Inferred from mutant phenotype	18477460	GOA
involved in mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	18477460	GOA
involved in negative regulation of catalytic activity	IDA IDA: Inferred from direct assay	19245366	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	19245366	GOA
involved in protein dephosphorylation	IMP IMP: Inferred from mutant phenotype	18477460	GOA
involved in regulation of cell adhesion	IDA IDA: Inferred from direct assay	20354225	GOA
NOT involved in regulation of establishment of endothelial barrier	IMP IMP: Inferred from mutant phenotype	25816133	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of PTW/PP1 phosphatase complex	IDA IDA: Inferred from direct assay	20354225	GOA
located in centrosome	IDA IDA: Inferred from direct assay	18477460	GOA
located in contractile muscle fiber	IDA IDA: Inferred from direct assay	20634291	GOA
located in kinetochore	IDA IDA: Inferred from direct assay	18477460	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

PPP1R12A Protein Structure

Ank_2

0
200
400
600
800
1030 a.a.

Protein Preferred Names

Protein Names

protein phosphatase 1 regulatory subunit 12A

myosin binding subunit

PPP1R12A Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PPP1R12A	O14974	ATXN10	Homo sapiens	Q9UBB4	Y2H Array	32814053
Intra	PPP1R12A	O14974	ATXN10	Homo sapiens	Q9UBB4	Validated Y2H	32814053
Intra	PPP1R12A	O14974	ATXN10	Homo sapiens	Q9UBB4	Y2H Pooling	32814053
Intra	PPP1R12A	O14974	DAPK3	Homo sapiens	O43293	Anti Bait CoIP	15292222
Intra	PPP1R12A	O14974	DAPK3	Homo sapiens	O43293	Pull Down	15292222
Cross	PPP1R12A	O14974	CPI17	Sus scrofa	O18734	Pull Down	18073109

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Genitourinary And/Or Brain Malformation Syndrome

GUBS	Genitourinary And/Or/Brain Malformation Syndrome

Moebius Syndrome

Mobius Syndrome	Moebius Sequence
Oromandibular-Limb Hypogenesis Spectrum	Congenital Facial Diplegia
MBS	Moebius Congenital Oculofacial Paralysis
Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves	Congenital Facial Diplegia Syndrome
Congenital Oculofacial Paralysis	Congenital Ophthalmoplegia And Facial Paresis
Moebius Spectrum	Möbius Sequence
Möbius Syndrome	Mobius Ii Syndrome

Coronary Artery Vasospasm

Coronary Vasospasm

Coronary Artery Spasm

Anencephaly

Aprosencephaly	Anencephalus
Congenital Absence Of Brain	Absence Of A Large Part Of The Brain And The Skull
Anencephalia	Anencephalic Monster
Brain Absence	Brain Agenesis
Brain Aplasia	Absent Brain
Anencephalic	Congenital Absence Of Cerebrum
Congenital Hemicrania	Incomplete Anencephaly

Holoprosencephaly

Holoprosencephaly Sequence	Hpe
Hpe - [Holoprosencephaly]

Portal Hypertension

Hypertension, Portal	Hypertension Portal
Pht - [Portal Hypertension]	Portal Htn

Hypertension, Essential

Essential Hypertension	Hypertension
High Blood Pressure	Hypertension, Essential, Susceptibility To
Hypertensive Disease	Primary Hypertension
EHT	Hypertension, Salt-Sensitive Essential, Susceptibility To
Hyperpiesia	Idiopathic Hypertension
Hypertensive Disorder	Hypertension, Essential, Susceptibility To, 3
Hypertension, Essential 3	Hypertension, Essential, Salt-Sensitive
Hypertension, Essential, Susceptibility To, 6	Hypertension, Essential 6
Hypertension, Salt-Sensitive Essential	Hypertension, Susceptibility To
Hypertension, Essential, Susceptibility To, 4	Hypertension, Essential 4
Hypertension, Essential, Susceptibility To, 2	Hypertension, Essential 2
Hypertension, Essential, Susceptibility To, 1	Hypertension, Essential 1
Hypertension, Essential, Susceptibility To, 5	Hypertension, Essential 5
Htn	Vascular Hypertensive Disorder
Systemic Primary Arterial Hypertension	Hbp - [High Blood Pressure]
Systemic Arterial Hypertensive Disorder	Elevated Blood Pressure
Arterial Hypertension Nos	Hypertension Nos
Benign Hypertension	Systemic Arterial Hypertension
Systemic Hypertension	Artery Htn
Benign Htn	Vascular Htn
Vascular Hypertension	Cholesterol Hypertension
Cholesterol Htn	Idiopathic Htn
Malignant Hypertension	Malignant Htn
Raised Blood Pressure	Cardiovascular Hypertension
Primary Htn - [Hypertension]	High Arterial Tension
High Blood Pressure Disorder	Ht - [Hypertension]
Htn - [Hypertension]	Hypertensive Vascular Disease
Hypertensive Vascular Degeneration

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10978	PPP1R12A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PPP1R12A	VGNC	VGNC:68407
Canis familiaris	PPP1R12A	VGNC	VGNC:44878
Macaca mulatta	PPP1R12A	VGNC	VGNC:76362
Rattus norvegicus	PPP1R12A	RGD	RGD:620013
Mus musculus	PPP1R12A	MGD	MGI:1309528
Bos taurus	PPP1R12A	VGNC	VGNC:33223

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