1. Gene
  2. MYH1 - myosin heavy chain 1 Gene

MYH1 - myosin heavy chain 1 Gene

Homo sapiens

Also known as MYHa; HEL71; MYHSA1; MyHC-2x; MyHC-2X/D

Gene ID: 4619 | Gene type: protein coding

About MYH1

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:10,492,307-10,518,542 (from NCBI)

This gene has 1 transcript (splice variant), 83 orthologues and 43 paralogues. Biased expression in prostate (RPKM 4.3), esophagus (RPKM 3.5) and 2 other tissues.

Summary

Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of Myosin heavy chains (MYH) and two pairs of nonidentical LIGHT chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different Myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008]

MYH1 Products(1)

mRNA Protein Name
NM_005963.4 NP_005954.3 myosin-1

MYH1 Protein Structure

Myosin_N

Myosin_N: Myosin N-terminal SH3-like domain (35 - 76)

Myosin_head

Myosin_head: Myosin head (motor domain) (89 - 770)

Myosin_tail_1

Myosin_tail_1: Myosin tail (1072 - 1929)

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  • 1939 a.a.
Protein Preferred Names Protein Names

myosin-1

epididymis luminal protein 71

Related Diseases

Diseases Alias
Myh-Associated Polyposis

Autosomal Recessive Familial Adenomatous Polyposis

Autosomal Recessive Multiple Colorectal Adenomas

Map Syndrome

Retinitis Pigmentosa 67

RP67

Retinitis Pigmentosa, Type 67

Epilepsy, Idiopathic Generalized 12

EIG12

Epilepsy, Idiopathic Generalized, Susceptibility To, 12

Idiopathic Generalized Epilepsy 12

Susceptibility To Idiopathic Generalized Epilepsy 12

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 12

Dystonia 9

DYT9

Choreoathetosis/Spasticity, Episodic

Episodic Choreoathetosis/Spasticity

Cse Choreoathetosis, Paroxysmal, With Episodic Ataxia

Choreoathetosis, Kinesigenic, With Episodic Ataxia And Spasticity

Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity

Cse

Dystonia-9

Kinesigenic Choreoathetosis With Episodic Ataxia And Spasticity

Paroxysmal Choreoathetosis With Episodic Ataxia

Dystonia, Type 9

Clubfoot

Congenital Talipes Equinovarus

Congenital Clubfoot

Congenital Equinovarus

Equinovarus Deformity Of Foot

Club Foot

Arthrogryposis, Distal, Type 7

Hecht Syndrome

Trismus-Pseudocamptodactyly Syndrome

Distal Arthrogryposis Type 7

Dutch-Kentucky Syndrome

DA7

Hecht-Beals Syndrome

Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons

Mouth, Inability To Completely Open, And Short Finger-Flexor Tendons

Arthrogryposis Distal Type 7

Trismus Pseudocamptodactyly Syndrome

Arthrogryposis, Distal, 7

Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy

CNM1

Centronuclear Myopathy 1

Ad-Cnm

Myopathy, Centronuclear, Autosomal Dominant

Myotubular Myopathy, Autosomal Dominant

Centronuclear Myopathy, Autosomal, Modifier Of

Autosomal Dominant Myotubular Myopathy

Dnm2-Related Centronuclear Myopathy

Centronuclear Myopathy Autosomal Dominant

Myopathies, Structural, Congenital

Myopathy, Centronuclear, Type 1

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Due To Lmna Mutation

MDCL

L-Cmd

Lmna-Related Congenital Muscular Dystrophy

Muscular Dystrophy, Congenital

Congenital Muscular Dystrophy Lmna-Related

Lmna-Related Cmd

Cmd

Mdc

Muscular Dystrophy Congenital Lmna-Related

Dystrophy, Muscular, Congenital, Lmna-Related

Dystrophy, Muscular, Congenital

Hereditary Muscular Dystrophy

Congenital Hereditary Muscular Dystrophy

Congenital Progressive Muscular Dystrophy

Hereditary Progressive Muscular Dystrophy

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion

Cftdm

Congenital Myopathy With Fiber Type Disproportion

Cftd

Congenital Fiber-Type Disproportion Myopathy

Fiber-Type Disproportion Myopathy, Congenital

Myopathy, Congenital With Fiber-Type Disproportion

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

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

Myopathy

Muscular Diseases

Myopathies

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

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

Orthologs Information

Species Symbol Source ID
Felis catus MYH1 VGNC VGNC:99320
Rattus norvegicus MYH1 RGD RGD:735061
Mus musculus MYH1 MGD MGI:1339711
Bos taurus MYH1 VGNC VGNC:55851