MYH1 myosin heavy chain 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYH1provided by HGNC
Official Full Name: myosin heavy chain 1provided by HGNC
Primary source: HGNC:HGNC:7567
See related: Ensembl:ENSG00000109061 MIM:160730; AllianceGenome:HGNC:7567
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MYHa; HEL71; MYHSA1; MyHC-2x; MyHC-2X/D
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]
Expression: Biased expression in prostate (RPKM 4.3), esophagus (RPKM 3.5) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 40

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (10492307..10518542, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (10399791..10426053, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (10395624..10421859, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.
Title: MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.
Transcriptional levels of MHC-I, MHC-IIa, and MHC-IIb in denervation groups were significantly down-regulated compared with controls
Title: Transition of myosin heavy chain isoforms in human laryngeal abductors following denervation.
Myosin isoforms impact single-fiber force generation and may lead to alterations in whole skeletal muscle performance.
Title: Molecular determinants of force production in human skeletal muscle fibers: effects of myosin isoform expression and cross-sectional area.
adaptive response to reduced masticatory load was lower numerical and area proportion of MyHC-1 expressing fibres and higher numerical proportion of hybrid fibres in edentulous compared with dentate subjects
Title: Wearing of complete dentures reduces slow fibre and enhances hybrid fibre fraction in masseter muscle.
The human genioglossus muscle is composed of conventional myosin heavy chain isoforms and 3 primary myosin heavy chain phenotypes.
Title: Myosin heavy chain composition of the human genioglossus muscle.
the expression levels of the MHC genes are associated with age and both PGC-1alpha and PGC-1beta and indicate that the MHC genes may to some extent be used to determine fibre-type composition in human skeletal muscle.
Title: The expression of myosin heavy chain (MHC) genes in human skeletal muscle is related to metabolic characteristics involved in the pathogenesis of type 2 diabetes.
we found a higher percentage of fibers expressing fast MyHC IIx in tetraplegic cerebral palsy
Title: Higher amount of MyHC IIX in a wrist flexor in tetraplegic compared to hemiplegic cerebral palsy.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Analysis of candidate genes in occurrence and growth of colorectal adenomas.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Genetic polymorphisms in hMTH1, hOGG1 and hMYH and risk of chronic benzene poisoning in a Chinese occupational population.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1493E (e-PCR)
- UniSTS:151698

D17S1497E (e-PCR)
- UniSTS:151702

RH118675 (e-PCR)
- UniSTS:138169

RH65760 (e-PCR)
- UniSTS:19394

RH121577 (e-PCR)
- UniSTS:134349

RH36158 (e-PCR)
- UniSTS:78325

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables microfilament motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in muscle contraction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in A band	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info	PubMed
located_in intercalated disc	IEA Inferred from Electronic Annotation more info
part_of muscle myosin complex	IDA Inferred from Direct Assay more info	PubMed
part_of myosin II complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in myosin filament	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: myosin-1

Names: epididymis luminal protein 71; myHC-IIx/d; myosin heavy chain 2x; myosin heavy chain IIx/d; myosin heavy chain, skeletal muscle, adult 1; myosin, heavy chain 1, skeletal muscle, adult; myosin, heavy polypeptide 1, skeletal muscle, adult

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_005963.4 → NP_005954.3 myosin-1

See identical proteins and their annotated locations for NP_005954.3

Status: REVIEWED

Source sequence(s)

AF111785, AJ573764, BC114545, DA826478

Consensus CDS

CCDS11155.1

UniProtKB/Swiss-Prot

P12882, Q14CA4, Q9Y622

UniProtKB/TrEMBL

V9HWC1

Related

ENSP00000226207.5, ENST00000226207.6

Conserved Domains (8) summary

cd14910
Location:100 → 770

MYSc_Myh1_mammals; class II myosin heavy chain 1, motor domain

pfam00063
Location:88 → 770

Myosin_head; Myosin head (motor domain)

pfam01576
Location:850 → 1927

Myosin_tail_1; Myosin tail

pfam02736
Location:36 → 73

Myosin_N; Myosin N-terminal SH3-like domain

pfam07851
Location:1744 → 1853

TMPIT; TMPIT-like protein

cl00459
Location:1299 → 1411

MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

cl19219
Location:1670 → 1767

DUF342; Protein of unknown function (DUF342)

cl23720
Location:965 → 1098

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

10492307..10518542 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017024675.2 → XP_016880164.1 myosin-1 isoform X1

UniProtKB/Swiss-Prot

P12882, Q14CA4, Q9Y622

UniProtKB/TrEMBL

V9HWC1

Conserved Domains (8) summary

cd14910
Location:100 → 770

MYSc_Myh1_mammals; class II myosin heavy chain 1, motor domain

pfam00063
Location:88 → 770

Myosin_head; Myosin head (motor domain)

pfam01576
Location:850 → 1927

Myosin_tail_1; Myosin tail

pfam02736
Location:36 → 73

Myosin_N; Myosin N-terminal SH3-like domain

pfam07851
Location:1744 → 1853

TMPIT; TMPIT-like protein

cl00459
Location:1299 → 1411

MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

cl19219
Location:1670 → 1767

DUF342; Protein of unknown function (DUF342)

cl23720
Location:965 → 1098

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)