MYH9 myosin, heavy chain 9, non-muscle [Homo sapiens] - Gene

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Summary

Official Symbol: MYH9provided by HGNC
Official Full Name: myosin, heavy chain 9, non-muscleprovided by HGNC
Primary source: HGNC:7579
Locus tag: RP1-68O2.1
See related: Ensembl:ENSG00000100345; HPRD:01177; MIM:160775; Vega:OTTHUMG00000030429
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: MHA; FTNS; EPSTS; BDPLT6; DFNA17; NMMHCA; NMHC-II-A; NMMHC-IIA; MGC104539
Summary: This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]

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Genomic context

Location :: 22q13.1

Sequence :: Chromosome: 22; NC_000022.10 (36677323..36784063, complement)

See MYH9 in Epigenomics, MapViewer

Chromosome 22 - NC_000022.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Myosin heavy polypeptide 9 is a new downstream effector of proprotein convertases in the human colon cancer cells HT-29.
Title: Identification of the myosin heavy polypeptide 9 as a downstream effector of the proprotein convertases in the human colon carcinoma HT-29 cells.
Experimental inhibition of NMIIA by reducing either its expression (via stable shRNA transduction) or its function (via the specific ATPase inhibitor blebbistatin) underpinned the decisive role of NMIIA in MCF-7 cell invasion.
Title: The role of non-muscle myosin IIA in aggregation and invasion of human MCF-7 breast cancer cells.
mutations responsible for gene-related thrombocytopenia impair megakaryoblast migration during thrombopoiesis
Title: Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells.
MYH9 mutation is associated with thrombocytopenia.
Title: Early diagnosis improves the quality of life in MYH9 disorder.
Data provide insight into the pathobiology of renal dysfunction in SCD, suggesting that MYH9 and APOL1 are both associated with risk.
Title: MYH9 and APOL1 are both associated with sickle cell disease nephropathy.
Single myosin IIA molecules associate with NK-cell lytic granules via the nonhelical tailpiece. Phosphorylation of myosin IIA at residue serine 1943 (S1943) in the tailpiece is needed for this linkage.
Title: Phosphorylation of the myosin IIA tailpiece regulates single myosin IIA molecule association with lytic granules to promote NK-cell cytotoxicity.
Polymorphisms in the nonmuscle myosin heavy chain 9 gene are associated with the progression of IgA nephropathy.
Title: Polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) are associated with the progression of IgA nephropathy in Chinese.
Etiology of nodular fasciitis seems to involve USP6 transcriptional upregulation due to its fusion with a strong ectopic promoter (MYH9).
Title: Nodular fasciitis: a novel model of transient neoplasia induced by MYH9-USP6 gene fusion.
Changes in PKC iota, PKC zeta, and non-muscle MyoIIA expression are likely to participate in pathogenesis of epithelial barrier function in response to local pro-inflammatory signals.
Title: Aberrant expression of the polarity complex atypical PKC and non-muscle myosin IIA in active and inactive inflammatory bowel disease.
FRMD3 SNPs appeared to interact with the MYH9 E1 haplotype
Title: Differential effects of MYH9 and APOL1 risk variants on FRMD3 Association with Diabetic ESRD in African Americans.

Submit: New GeneRIF Correction See all (109)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9.

Candidate genes for non-diabetic ESRD in African Americans: a genome-wide association study using pooled DNA.

Deafness, autosomal dominant 17

MIM: 603622

Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.

Macrothrombocytopenia and progressive sensorineural deafness

MIM: 600208

HIV-1 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 Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
P35579	Q9H1I8	ASCC2	HPRD	PubMed
P35579	Q86VB7	CD163	HPRD	PubMed
P35579	P61073	CXCR4	HPRD	PubMed
P35579	Q05586	GRIN1	HPRD	PubMed
P35579	O00255	MEN1	HPRD	PubMed
P35579	Q14896	MYBPC3	HPRD	PubMed
P35579	P35580	MYH10	HPRD	PubMed
P35579	P24844	MYL9	HPRD	PubMed
P35579	P52179	MYOM1	HPRD	PubMed
P35579	P54296	MYOM2	HPRD	PubMed
P35579	Q12889	OVGP1	HPRD	PubMed
P35579	P29350	PTPN6	HPRD	PubMed
P35579	P26447	S100A4	HPRD	PubMed
P35579	Q8WZ42	TTN	HPRD	PubMed
P35579	P49411	TUFM	HPRD	PubMed
BioGRID:110712	BioGRID:123921	ASCC2	BioGRID	PubMed	Two-hybrid
BioGRID:110712	BioGRID:107315	CBL	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:110712	BioGRID:107777	CREBBP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110712	BioGRID:128177	EIF2C3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110712	BioGRID:108325	EMD	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110712	BioGRID:108349	EPB41	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110712	BioGRID:109142	GRB2	BioGRID	PubMed	Two-hybrid
BioGRID:110712	BioGRID:115331	HDAC5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110712	BioGRID:121760	MARK4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110712	BioGRID:110455	MME	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110712	BioGRID:115670	MYL9	BioGRID	PubMed	Two-hybrid
BioGRID:110712	BioGRID:113841	NCOA3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110712	BioGRID:111516	PPP2R4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110712	BioGRID:111567	PRKCE	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:110712	BioGRID:111817	RAC1	BioGRID	PubMed	Two-hybrid
BioGRID:110712	BioGRID:113188	SUMO1	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex
BioGRID:110712	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110712	BioGRID:112872	TERF1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110712	BioGRID:112873	TERF2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110712	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110712	BioGRID:113185	UBE3A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110712	BioGRID:113241	USP1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110712	BioGRID:124430	USP45	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110712	BioGRID:116168	YWHAQ	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110712	BioGRID:113366	YWHAZ	BioGRID	PubMed	Two-hybrid
BioGRID:110712	BioGRID:1205541	tat	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
ADP binding	IDA Inferred from Direct Assay more info	PubMed
ATP binding	IDA Inferred from Direct Assay more info	PubMed
ATP binding	IEA Inferred from Electronic Annotation more info
ATPase activity	IDA Inferred from Direct Assay more info	PubMed
actin binding	IDA Inferred from Direct Assay more info	PubMed
actin binding	IEA Inferred from Electronic Annotation more info
actin filament binding	IDA Inferred from Direct Assay more info	PubMed
actin filament binding	NAS Non-traceable Author Statement more info	PubMed
actin-dependent ATPase activity	IDA Inferred from Direct Assay more info	PubMed
calmodulin binding	IEA Inferred from Electronic Annotation more info
microfilament motor activity	IDA Inferred from Direct Assay more info	PubMed
motor activity	IEA Inferred from Electronic Annotation more info
motor activity	NAS Non-traceable Author Statement more info	PubMed
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein anchor	IMP Inferred from Mutant Phenotype more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
ATP catabolic process	IDA Inferred from Direct Assay more info	PubMed
actin cytoskeleton reorganization	IMP Inferred from Mutant Phenotype more info	PubMed
actin filament-based movement	IDA Inferred from Direct Assay more info	PubMed
angiogenesis	IDA Inferred from Direct Assay more info	PubMed
axon guidance	TAS Traceable Author Statement more info
blood vessel endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
cell morphogenesis involved in differentiation	IEA Inferred from Electronic Annotation more info
cell-cell adhesion	IEA Inferred from Electronic Annotation more info
cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
establishment of T cell polarity	IEA Inferred from Electronic Annotation more info
establishment of meiotic spindle localization	IEA Inferred from Electronic Annotation more info
in utero embryonic development	IEA Inferred from Electronic Annotation more info
integrin-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed
leukocyte migration	NAS Non-traceable Author Statement more info	PubMed
meiotic metaphase I	IEA Inferred from Electronic Annotation more info
meiotic spindle organization	IEA Inferred from Electronic Annotation more info
membrane protein ectodomain proteolysis	IDA Inferred from Direct Assay more info	PubMed
monocyte differentiation	IEP Inferred from Expression Pattern more info	PubMed
myoblast fusion	IEA Inferred from Electronic Annotation more info
platelet formation	IMP Inferred from Mutant Phenotype more info	PubMed
protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of cell shape	IMP Inferred from Mutant Phenotype more info	PubMed
termination of G-protein coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
uropod organization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
actomyosin contractile ring	IDA Inferred from Direct Assay more info	PubMed
cell cortex	IEA Inferred from Electronic Annotation more info
cell leading edge	IDA Inferred from Direct Assay more info	PubMed
cell-cell adherens junction	IEA Inferred from Electronic Annotation more info
cleavage furrow	IDA Inferred from Direct Assay more info	PubMed
cortical cytoskeleton	IEA Inferred from Electronic Annotation more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with immunological synapse	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with integrin complex	IDA Inferred from Direct Assay more info	PubMed
myosin II complex	IEA Inferred from Electronic Annotation more info
myosin complex	IEA Inferred from Electronic Annotation more info
neuromuscular junction	IEA Inferred from Electronic Annotation more info
nucleus	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with plasma membrane	IDA Inferred from Direct Assay more info	PubMed
protein complex	IDA Inferred from Direct Assay more info	PubMed
ruffle	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with signalosome	IDA Inferred from Direct Assay more info	PubMed
spindle	IEA Inferred from Electronic Annotation more info
stress fiber	IDA Inferred from Direct Assay more info	PubMed
uropod	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: myosin-9

Names: myosin-9; myosin heavy chain 9; non-muscle myosin heavy chain A; non-muscle myosin heavy chain IIa; nonmuscle myosin heavy chain II-A; myosin heavy chain, non-muscle IIa; cellular myosin heavy chain, type A; non-muscle myosin heavy polypeptide 9

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_011884.1 RefSeqGene

Range

5001..111741

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002473.4 → NP_002464.1 myosin-9

Status: REVIEWED

Source sequence(s)

CR383703, Z82215

Consensus CDS

CCDS13927.1

UniProtKB/Swiss-Prot

P35579

UniProtKB/TrEMBL

Q60FE2

Related

ENSP00000216181, OTTHUMP00000165902, ENST00000216181, OTTHUMT00000259110

Conserved Domains (5) summary

cd01377
Location:77 – 775
Blast Score: 3150

MYSc_type_II; Myosin motor domain, type II myosins. Myosin II mediates cortical contraction in cell motility, and is the motor in smooth and skeletal muscle. This catalytic (head) domain has ATPase activity and belongs to the larger group of P-loop NTPases. Myosins ...

pfam02736
Location:29 – 71
Blast Score: 128

Myosin_N; Myosin N-terminal SH3-like domain

pfam01576
Location:1091 – 1923
Blast Score: 1174

Myosin_tail_1; Myosin tail

pfam11068
Location:1524 – 1607
Blast Score: 88

DUF2869; Protein of unknown function (DUF2869)

smart00242
Location:76 – 776
Blast Score: 2605

MYSc; Myosin. Large ATPases.

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000022.10 Reference GRCh37.p5 Primary Assembly

Range

36677323..36784063, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000154.1 Alternate HuRef

Range

19645404..19752216, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	CH471095.1	EAW60096.1
		EAW60097.1
		EAW60098.1
genomic	CR383703.1 (100..17023)	None
genomic	DQ304679.1	ABC25483.1
genomic	HI574092.1	CBX47535.1
genomic	Z82215.1	CAB05105.1
		CAQ09090.1
		CAQ09091.1
mRNA	AB191263.1	BAD52439.1
mRNA	AB290175.1	BAG06729.1
mRNA	AK025219.1	None
mRNA	AK025393.1	None
mRNA	AK131080.1	BAC85130.1
mRNA	AK291609.1	BAF84298.1
mRNA	AK304840.1	BAG65583.1
mRNA	AL832639.2	CAD89954.1
mRNA	BC011915.2	None
mRNA	BC049849.1	AAH49849.1
mRNA	BC090921.1	AAH90921.1
mRNA	BC111387.1	None
mRNA	CD614930.1	None
mRNA	CR456526.1	CAG30412.1
mRNA	D11393.1	BAA01989.1
mRNA	L29141.1	AAA20904.1
mRNA	M31013.1	AAA36349.1
mRNA	M69180.1	AAA61765.1
mRNA	M81105.1	AAA59888.1
other-genetic	BC150169.1	AAI50170.1
other-genetic	BC150170.1	AAI50171.1
other-genetic	CU013126.1	CAK54557.1
other-genetic	CU013414.1	CAK54856.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P35579.4	GenPept	UniProtKB/Swiss-Prot:P35579
Q2PS10	GenPept	UniProtKB/TrEMBL:Q2PS10
Q5BKV1	GenPept	UniProtKB/TrEMBL:Q5BKV1
Q60FE2	GenPept	UniProtKB/TrEMBL:Q60FE2
Q6ZNL4	GenPept	UniProtKB/TrEMBL:Q6ZNL4
Q86XU5	GenPept	UniProtKB/TrEMBL:Q86XU5
Q99529	GenPept	UniProtKB/TrEMBL:Q99529
Q9UMJ0	GenPept	UniProtKB/TrEMBL:Q9UMJ0