2. Gene
  3. PPP1R12A - protein phosphatase 1 regulatory subunit 12A Gene

PPP1R12A - protein phosphatase 1 regulatory subunit 12A Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：蛋白磷酸酶 1 调节亚基 12A

种属: Homo sapiens

同用名: MBS; GUBS; M130; MYPT1

基因 ID: 4659 | 基因类型: protein coding

关于 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.

功能概要

肌球蛋白磷酸酶靶亚基 1，也称为肌球蛋白磷酸酶的肌球蛋白结合亚基，是肌球蛋白磷酸酶的亚基之一。肌球蛋白磷酸酶调节鸟苷三磷酸酶 Rho 下游的肌动蛋白和肌球蛋白的相互作用。小鸟苷三磷酸酶 Rho 与肌球蛋白轻链 (MLC) 磷酸化有关，这会导致平滑肌收缩以及非肌肉细胞中肌动蛋白和肌球蛋白的相互作用。三磷酸鸟苷 (GTP) 结合的活性形式 RhoA (GTP.RhoA) 与肌球蛋白磷酸酶的肌球蛋白结合亚基 (MBS) 特异性相互作用，后者调节 MLC 的磷酸化程度。 Rho 相关激酶 (Rho-kinase) ，由 GTP 激活。 RhoA、磷酸化 MBS 并因此使肌球蛋白磷酸酶失活。 NIH 3T3 细胞中 RhoA 的过表达或激活的 RhoA 增加了 MBS 和 MLC 的磷酸化。因此，Rho 似乎通过 Rho 激酶的作用抑制肌球蛋白磷酸酶。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供，2009 年 1 月]

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 基因产物(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 蛋白结构

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.
蛋白主名 其他名称

protein phosphatase 1 regulatory subunit 12A

myosin binding subunit

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10978 PPP1R12A Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 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
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z