Reactome | UniProt:P35579 MYH9

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UniProt:P35579 MYH9 Show undefined attributes

chain	initiator methionine:1 chain:2-1960
checksum	588F84BB8C106E6F
comment	FUNCTION Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Required for cortical actin clearance prior to oocyte exocytosis (By similarity). Promotes cell motility in conjunction with S100A4 (PubMed:16707441). During cell spreading, plays an important role in cytoskeleton reorganization, focal contact formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10 (PubMed:20052411).FUNCTION (Microbial infection) Acts as a receptor for herpes simplex virus 1/HHV-1 envelope glycoprotein B.SUBUNIT Myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Interacts with RASIP1 (By similarity). Interacts with DDR1 (By similarity). Interacts with PDLIM2 (By similarity). Interacts with SVIL (PubMed:12917436, PubMed:17925381). Interacts with HTRA3 (PubMed:22229724). Interacts with Myo7a (By similarity). Interacts with CFAP95 (PubMed:28345668). Interacts with LIMCH1; independently of the integration of MYH9 into the myosin complex (PubMed:28228547). Interacts with RAB3A (PubMed:27325790). Interacts with ZBED4 (PubMed:22693546). Interacts with S100A4; this interaction increases cell motility (PubMed:16707441).SUBUNIT (Microbial infection) Interacts with herpes simplex virus 1/HHV-1 envelope glycoprotein B.INTERACTION Colocalizes with actin filaments at lamellipodia margins and at the leading edge of migrating cells (PubMed:20052411). In retinal pigment epithelial cells, predominantly localized to stress fiber-like structures with some localization to cytoplasmic puncta (PubMed:27331610).SUBCELLULAR LOCATION (Microbial infection) Localizes at the surface of the cell membrane following infection by herpes simplex virus 1/HHV-1,.ALTERNATIVE PRODUCTS In the kidney, expressed in the glomeruli. Also expressed in leukocytes.DOMAIN The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.PTM ISGylated.PTM Ubiquitination.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Subjects with mutations in the motor domain of MYH9 present with severe thrombocytopenia and develop nephritis and deafness before the age of 40 years, while those with mutations in the tail domain have a much lower risk of noncongenital complications and significantly higher platelet counts. The clinical course of patients with mutations in the four most frequently affected residues of MYH9 (responsible for 70% of MYH9-related cases) were evaluated. Mutations at residue 1933 do not induce kidney damage or cataracts and cause deafness only in the elderly, those in position 702 result in severe thrombocytopenia and produce nephritis and deafness at a juvenile age, while alterations at residue 1424 or 1841 result in intermediate clinical pictures.DISEASE Genetic variations in MYH9 are associated with non-diabetic end stage renal disease (ESRD).SIMILARITY Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
crossReference	[DatabaseIdentifier:11519046] ENSEMBL:ENSG00000100345 [DatabaseIdentifier:12466718] RefSeq:NP_002464.1 [DatabaseIdentifier:12288284] Pharos - Targets:P35579 [DatabaseIdentifier:12269656] PRO:P35579 [DatabaseIdentifier:12162050] PDB:4CFQ [DatabaseIdentifier:12162048] PDB:3ZWH [DatabaseIdentifier:12162046] PDB:2LNK [DatabaseIdentifier:12162051] PDB:4CFR [DatabaseIdentifier:12162059] PDB:4ETO [DatabaseIdentifier:12136331] Orphanet:MYH9 [DatabaseIdentifier:12128060] OpenTargets:ENSG00000100345 [DatabaseIdentifier:11637186] ENSEMBL:ENSP00000216181 [DatabaseIdentifier:11759885] ENSEMBL:ENST00000216181 [DatabaseIdentifier:11790442] GeneCards:MYH9 [DatabaseIdentifier:11806358] GlyGen:P35579 [DatabaseIdentifier:11843450] HPA:ENSG00000100345-MYH9
databaseName	UniProt
dbId	59799
description	recommendedName: Myosin-9 alternativeName: Cellular myosin heavy chain, type A alternativeName: Myosin heavy chain 9 alternativeName: Myosin heavy chain, non-muscle IIa alternativeName: Non-muscle myosin heavy chain A shortName: NMMHC-A alternativeName: fullName evidence="40"Non-muscle myosin heavy chain IIa shortName evidence="40"NMMHC II-a shortName evidence="40"NMMHC-IIA
displayName	UniProt:P35579 MYH9
geneName	MYH9
identifier	P35579
isSequenceChanged	false
keyword	3D-structure Acetylation Actin-binding Alport syndrome Alternative splicing ATP-binding Calmodulin-binding Cataract Cell adhesion Cell membrane Cell shape Coiled coil Cytoplasm Cytoplasmic vesicle Cytoskeleton Deafness Direct protein sequencing Disease variant Host cell receptor for virus entry Membrane Methylation Motor protein Myosin Non-syndromic deafness Nucleotide-binding Phosphoprotein Proteomics identification Receptor Reference proteome Ubl conjugation
modified	[InstanceEdit:9963647] Weiser, Joel, 2025-08-15
moleculeType	Protein
name	MYH9
otherIdentifier	11739009_a_at 11739010_a_at 11752051_a_at 11752052_x_at 16934491 211926_PM_s_at 211926_s_at 3831227 3959452 3959453 3959454 3959455 3959456 3959457 3959458 3959459 3959460 3959461 3959463 3959464 3959465 3959466 3959467 3959468 3959469 3959470 3959471 3959472 3959473 3959474 3959475 3959476 3959479 3959480 3959482 3959483 3959484 3959485 3959486 3959487 3959489 3959490 3959491 3959492 3959493 3959494 3959495 3959496 3959498 3959500 3959501 3959502 3959503 3959504 3959505 3959507 3959508 3959509 3959510 3959511 3959512 3959513 3959514 3959515 3959517 3959518 3959519 3959520 3959521 3959522 3959523 3959524 3959525 3959526 3959527 3959528 3959529 3959530 3959531 3959532 3959533 3959534 3959535 3959551 3959552 3959557 3959558 3959562 3959568 39738_at 4627 72983_at 7894696 8075728 A_23_P57497 A_24_P408424 A_33_P3353692 GE651683 GE81161 GE88562 GO:0000146 GO:0000166 GO:0000212 GO:0000902 GO:0001525 GO:0001618 GO:0001701 GO:0001725 GO:0001726 GO:0001768 GO:0001772 GO:0001778 GO:0001931 GO:0002376 GO:0003723 GO:0003774 GO:0003779 GO:0005178 GO:0005515 GO:0005516 GO:0005524 GO:0005634 GO:0005737 GO:0005794 GO:0005819 GO:0005826 GO:0005829 GO:0005856 GO:0005886 GO:0005903 GO:0005912 GO:0005925 GO:0005938 GO:0006509 GO:0006911 GO:0007010 GO:0007155 GO:0007163 GO:0007229 GO:0007520 GO:0008092 GO:0008180 GO:0008360 GO:0009898 GO:0009986 GO:0015031 GO:0015629 GO:0016020 GO:0016192 GO:0016459 GO:0016460 GO:0016604 GO:0019904 GO:0022414 GO:0030036 GO:0030048 GO:0030154 GO:0030220 GO:0030224 GO:0030863 GO:0031032 GO:0031252 GO:0031410 GO:0031594 GO:0032154 GO:0032418 GO:0032506 GO:0032796 GO:0032970 GO:0032982 GO:0032991 GO:0035987 GO:0042641 GO:0042802 GO:0042803 GO:0043226 GO:0043495 GO:0043531 GO:0043534 GO:0045055 GO:0045296 GO:0046718 GO:0048856 GO:0048870 GO:0050900 GO:0051015 GO:0051295 GO:0060090 GO:0060327 GO:0060471 GO:0060473 GO:0061024 GO:0070062 GO:0070527 GO:0097513 GO:0098609 GO:0099512 GO:0140657 GO:1903919 GO:1903923 GO:1905684 HMNXSV003027786 HMNXSV003033784 Hs.146550.0.A2_3p_a_at ILMN_1722872 ILMN_2087702 M31013_at PH_hs_0031821 TC22000703.hg TC22001326.hg
physicalEntity	[EntityWithAccessionedSequence:R-HSA-419173] MYH9 [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9715280] MYH9(2-1644)-ALK(1067-1620) fusion [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9715279] MYH9(2-1644)-p-7Y-ALK(1067-1620) fusion [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:11919725] KEGG:hsa:4627 MYH9 [ReferenceDNASequence:12767030] UCSC:P35579 MYH9 [ReferenceDNASequence:12112867] OMIM:160775 MYH9 [ReferenceDNASequence:12096870] NCBI Gene:4627 MYH9 [ReferenceDNASequence:12012777] Monarch:4627 MYH9 [ReferenceDNASequence:ensembl:ENSG00000100345] ENSEMBL:ENSG00000100345 MYH9 [ReferenceDNASequence:11382988] BioGPS Gene:4627 MYH9 [ReferenceDNASequence:11403640] COSMIC - genes:MYH9 MYH9 [ReferenceDNASequence:11417817] CTD Gene:4627 MYH9 [ReferenceDNASequence:11441266] dbSNP Gene:4627 MYH9 [ReferenceDNASequence:11822103] HGNC:7579 MYH9
referenceTranscript	[ReferenceRNASequence:12648178] RefSeq:NM_002473.6 MYH9
schemaClass	ReferenceGeneProduct
secondaryIdentifier	MYH9_HUMAN A8K6E4 O60805 Q60FE2 Q86T83
sequenceLength	1960
species	[Species:48887] Homo sapiens
stId	uniprot:P35579
url	http://purl.uniprot.org/uniprot/P35579

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