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

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

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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