MYH13 myosin heavy chain 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYH13provided by HGNC
Official Full Name: myosin heavy chain 13provided by HGNC
Primary source: HGNC:HGNC:7571
See related: Ensembl:ENSG00000006788 MIM:603487; AllianceGenome:HGNC:7571
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MyHC-eo; MyHC-IIL
Summary: Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in muscle contraction. Predicted to act upstream of or within cellular response to starvation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 41

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (10300865..10373006, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (10208390..10280510, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (10204182..10276323, 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?

MYH13, a superfast myosin expressed in extraocular, laryngeal and syringeal muscles.
Title: MYH13, a superfast myosin expressed in extraocular, laryngeal and syringeal muscles.
Domain-mapping experiments indicated that muscle-type creatine kinase binds to the C-terminal domains of MyBPC1, which is also the binding site of myosin.
Title: Slow skeletal muscle myosin-binding protein-C (MyBPC1) mediates recruitment of muscle-type creatine kinase (CK) to myosin.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
Meta-analysis of gene-disease association. (HuGE Navigator)
Title: Assessment of Alzheimer's disease case-control associations using family-based methods.
phylogenic imlications in extraocular muscles (REVIEW)
Title: Phylogenetic implications of the superfast myosin in extraocular muscles.

Submit: New GeneRIF Correction

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
retropepsin	gag-pol	HIV-1 protease cleaves human myosin heavy chain in vitro	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S520 (e-PCR), detects polymorphism
- UniSTS:150020

D17S2130 (e-PCR)
- UniSTS:37132

G17964 (e-PCR)
- UniSTS:24089

D17S520 (e-PCR), detects polymorphism
- UniSTS:51798

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 microfilament motor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to starvation	IEA Inferred from Electronic Annotation more info
involved_in muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in muscle contraction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
part_of muscle myosin complex	TAS Traceable Author Statement more info	PubMed
located_in myofibril	IEA Inferred from Electronic Annotation more info
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-13

Names: extraocular muscle myosin heavy chain; extraocular myosin heavy chain; myosin heavy chain, skeletal muscle, extraocular; myosin heavy chain, skeletal muscle, laryngeal; myosin, heavy chain 13, skeletal muscle; myosin, heavy polypeptide 13, skeletal muscle; superfast myosin

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.