1. Gene
  2. MYH10 - myosin heavy chain 10 Gene

MYH10 - myosin heavy chain 10 Gene

中文名称:肌球蛋白重链 10

种属: Homo sapiens

同用名: NMMHCB; NMMHC-IIB

基因 ID: 4628 | 基因类型: protein coding

关于 MYH10

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:8,474,212-8,631,345 (from NCBI)

This gene has 32 transcripts (splice variants), 212 orthologues, 43 paralogues and is associated with 1 phenotype. Broad expression in lung (RPKM 33.9), placenta (RPKM 28.3) and 22 other tissues.

功能概要

该基因编码肌球蛋白超家族的一个成员。该蛋白质代表常规的非肌肉肌球蛋白;它不应与非常规肌球蛋白 10 (MYO10) 混淆。肌球蛋白是肌动蛋白依赖性运动蛋白,具有多种功能,包括调节胞质分裂、细胞运动和细胞极性。该基因的突变与大脑和心脏的 May-Hegglin 异常和发育缺陷有关。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2011 年 12 月]

This gene encodes a member of the Myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-10 (MYO10). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene have been associated with May-Hegglin anomaly and developmental defects in brain and heart. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

MYH10 基因产物(4)

mRNA Protein Name
NM_001256012.3 NP_001242941.1 myosin-10 isoform 1
NM_001256095.2 NP_001243024.1 myosin-10 isoform 3
NM_001375266.1 NP_001362195.1 myosin-10 isoform 4
NM_005964.5 NP_005955.3 myosin-10 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ADP binding IDA
IDA: 通过直接分析推断
15845534 GOA
enables ATP binding IDA
IDA: 通过直接分析推断
15845534 GOA
enables RNA stem-loop binding IDA
IDA: 通过直接分析推断
20603131 GOA
enables actin filament binding IDA
IDA: 通过直接分析推断
15845534 GOA
contributes to actin filament binding IMP
IMP: 通过突变表型推断
24072716 GOA
enables mRNA 5'-UTR binding IDA
IDA: 通过直接分析推断
20603131 GOA
enables microfilament motor activity IDA
IDA: 通过直接分析推断
15845534 GOA
contributes to microfilament motor activity IMP
IMP: 通过突变表型推断
24072716 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
7542763 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within actin filament-based movement IDA
IDA: 通过直接分析推断
15845534 GOA
involved in actomyosin structure organization IMP
IMP: 通过突变表型推断
24072716 GOA
acts upstream of or within mitotic cytokinesis IDA
IDA: 通过直接分析推断
15774463 GOA
involved in positive regulation of protein secretion IMP
IMP: 通过突变表型推断
20603131 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in actomyosin IDA
IDA: 通过直接分析推断
24072716 GOA
located in cell cortex IDA
IDA: 通过直接分析推断
7699007 GOA
located in cleavage furrow IDA
IDA: 通过直接分析推断
7699007 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
7699007 GOA
located in cytosol IMP
IMP: 通过突变表型推断
20603131 GOA
located in midbody IDA
IDA: 通过直接分析推断
11029059 GOA
part of myosin II complex IDA
IDA: 通过直接分析推断
24072716 GOA
located in myosin II filament IDA
IDA: 通过直接分析推断
24072716 GOA
is active in postsynaptic actin cytoskeleton IDA
IDA: 通过直接分析推断
30123108 GOA
is active in postsynaptic actin cytoskeleton IMP
IMP: 通过突变表型推断
30123108 GOA
located in stress fiber IDA
IDA: 通过直接分析推断
7699007 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MYH10 蛋白结构

Myosin_N

Myosin_N: Myosin N-terminal SH3-like domain (33 - 75)

Myosin_head

Myosin_head: Myosin head (motor domain) (87 - 771)

IQ

IQ: IQ calmodulin-binding motif (788 - 806)

Myosin_tail_1

Myosin_tail_1: Myosin tail (1074 - 1929)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 1976 a.a.
蛋白主名 其他名称

myosin-10

myosin heavy chain, nonmuscle type B

MYH10 抗体

目录号 产品名 应用 反应物种
HY-P83369 MYH10 Antibody (YA3114) WB, IP Human, Mouse
HY-P83369A MYH10 Antibody (YA3114)(PBS only) WB, IP Human, Mouse

关联疾病

疾病名称 别名
Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis

Coloboma, Ocular, Autosomal Dominant

Coloboma, Ocular

Coloboma Of Iris, Choroid, And Retina

Coi

Coloboma, Uveoretinal

COAD

Ocular Coloboma

Uveoretinal Coloboma

Chronic Obstructive Airway Disease

Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma

Hypertelorism

Eyes Wide Apart

Eyes Widely Set

Hypertelorism Of Orbit

Ocular Hypertelorism

Orbital Separation Excessive

Myh-9 Related Disease

Myh9-Related Disease

Myh9-Rd

Myh9-Related Disorder

Myh9-Related Syndrome

Myh9-Related Syndromic Thrombocytopenia

Sebastian Syndrome

Lymphangioleiomyomatosis

Lymphangiomyomatosis

LAM

Lung Lymphangioleiomyomatosis

Pulmonary Lymphangioleiomyomatosis

Lymphangioleiomyomatosis, Somatic

Lymphangio-Myomatosis

Deafness, Autosomal Dominant 17

DFNA17

Autosomal Dominant Nonsyndromic Deafness 17

Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

Autosomal Dominant Deafness 17

Late-Onset Progressive Hereditary Hearing Impairment Due To Cochleosaccular Degeneration

Nonsyndromic Hereditary Deafness Dfna17

Deafness, Autosomal Dominant, 17

Cochleosaccular Degeneration

Deafness, Autosomal Dominant, Type 17

Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts

Infantile Myofibromatosis

Lipofibromatosis

Myofibromatosis

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Aortic Valve Disease 1

Aortic Valve Disease

Bicuspid Aortic Valve

Aortic Valve Disorder

AOVD1

Bav

Bicuspid Aortic Valve Disease

Familial Bicuspid Aortic Valve

Aortic Valve Calcification

Aovd

Aortic Valve, Bicuspid

Aortic Valve, Calcification Of

Aortic Stenosis, Calcific

Familial Bav

Calcific Aortic Stenosis

Calcification Of Aortic Valve

Abnormality Of The Aortic Valve

Aortic Valve Disease, Type 1

Aortic Valve Disease 2

Bicommissural Aortic Valve

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Familial Thoracic Aortic Aneurysm

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic Aortic Aneurysm And Dissection

Aortic Aneurysm, Thoracic

AAT1

Faa1

Aortic Dissection, Familial

Aortic Aneurysm, Familial Thoracic

Aneurysm, Thoracic Aortic

Faa

Ftaad

Taa

Taad

Cystic Medial Necrosis Of Aorta

Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

Aortic Aneurysm Thoracic

Familial Aortic Aneurysms

Aneurysm, Aortic, Thoracic, Familial, Type 1

Aneurysm Of Thoracic Aorta

Intrathoracic Aneurysm

Thoracic Aorta Aneurysm

Thoracic Aortic Aneurysm Without Rupture

Thoracic Aneurysm

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Arterial Aneurysm

Thorax Aneurysm

Thorax Aortic Aneurysm

Dissection Of Thoracic Aorta

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris MYH10 VGNC VGNC:43535
Felis catus MYH10 VGNC VGNC:68379
Bos taurus MYH10 VGNC VGNC:31794
Rattus norvegicus MYH10 RGD RGD:71000
Macaca mulatta MYH10 VGNC VGNC:99175
Mus musculus MYH10 MGD MGI:1930780