PPP1R12A - protein phosphatase 1 regulatory subunit 12A Gene

Also Known as MBS; GUBS; M130; MYPT1

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 4659

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 参考文献 由来
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 参考文献 由来
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 参考文献 由来
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

Ank_2: Ankyrin repeats (3 copies) (46 - 134)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (191 - 257)

  • 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
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
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

PPP1R12A 抗体

製品番号 製品名 アプリケーション 反応性
HY-P810682 Phospho-MYPT1 (Thr853) Antibody (YA9940) WB Human, Mouse, Rat
HY-P810683 Phospho-MYPT1 (Thr696) Antibody (YA9941) WB Human, Mouse, Rat
HY-P86347 MYPT1 Antibody (YA6039) WB, IHC-P, ICC/IF, ELISA Human

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS10978 PPP1R12A Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others PPP1R12A NCBI