Reviewed,
UniProtKB/Swiss-Prot P35579 (MYH9_HUMAN)
Last modified
June 16, 2009.
Version 113.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Myosin-9 Alternative name(s): Myosin heavy chain 9 Myosin heavy chain, non-muscle IIa Non-muscle myosin heavy chain IIa Short name=NMMHC II-a Short name=NMMHC-IIA Cellular myosin heavy chain, type A Non-muscle myosin heavy chain A Short name=NMMHC-A | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1960 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. |
| Subunit structure | Interacts with PDLIM2 By similarity. 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). |
| Tissue specificity | In the kidney, expressed in the glomeruli. Also expressed in leukocytes. Ref.4 Ref.25 |
| 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. |
| Involvement in disease | Defects in MYH9 are the cause of May-Hegglin anomaly (MHA) [MIM:155100]. MHA is an autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukokyte inclusions appearing as highly parallel paracrystalline bodies. Ref.20 Ref.21 Ref.22 Ref.23 Ref.27 Ref.28 Ref.32 Defects in MYH9 are the cause of Sebastian syndrome (SBS) [MIM:605249]. SBS is an autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are smaller and less organized than in May-Hegglin anomaly. Ref.27 Ref.32 Defects in MYH9 are the cause of Fechtner syndrome (FTNS) [MIM:153640]. FTNS is an autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are small and poorly organized. Additionally, FTNS is distinguished by Alport-like clinical features of sensorineural deafness, cataracts and nephritis. Ref.25 Ref.27 Ref.28 Ref.32 Defects in MYH9 are the cause of Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]. APSM is an autosomal dominant disorder characterized by the association of ocular lesions, sensorineural hearing loss and nephritis (Alport syndrome) with platelet defects. Ref.32 Defects in MYH9 are the cause of Epstein syndrome (EPS) [MIM:153650]. EPS is an autosomal dominant disorder characterized by the association of macrothrombocytopathy, sensorineural hearing loss and nephritis. Ref.27 Ref.28 Ref.32 Ref.24 Ref.30 Defects in MYH9 are the cause of non-syndromic sensorineural deafness autosomal dominant type 17 (DFNA17) [MIM:603622]. DFNA17 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA17 is characterized by progressive hearing impairment and cochleosaccular degeneration. Ref.32 Ref.19 Defects in MYH9 are the cause of macrothrombocytopenia with progressive sensorineural deafness (MPSD) [MIM:600208]. MPSD is an autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction. Ref.32 Ref.29 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. Ref.32 |
| Sequence similarities | Contains 1 IQ domain. Contains 1 myosin head-like domain. |
| Sequence caution | The sequence CAD89954.1 differs from that shown. Reason: Frameshift at position 1890. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| CCR5 | P51681 | 1 | EBI-350338,EBI-489374 | |
| CXCR4 | P61073 | 4 | EBI-350338,EBI-489411 | |
| EPB41 | P11171 | 1 | EBI-350338,EBI-1050906 | |
| MEN1 | O00255 | 5 | EBI-350338,EBI-592789 | |
| NCL | P19338 | 2 | EBI-350338,EBI-352553 | |
| S100P | P25815 | 1 | EBI-350338,EBI-743700 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P35579-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: P35579-2) The sequence of this isoform differs from the canonical sequence as follows: 1-136: Missing. 980-1421: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed Ref.6 | ||||||
| Chain | 2 – 1960 | 1959 | Myosin-9 | PRO_0000123416 | |||||
Regions | |||||||||
| Domain | 2 – 778 | 777 | Myosin head-like | ||||||
| Domain | 779 – 808 | 30 | IQ | ||||||
| Nucleotide binding | 174 – 181 | 8 | ATP Potential | ||||||
| Region | 654 – 676 | 23 | Actin-binding | ||||||
| Coiled coil | 837 – 1926 | 1090 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 2 | 1 | N-acetylalanine Ref.6 | ||||||
| Modified residue | 181 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 638 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 754 | 1 | Phosphotyrosine Ref.12 | ||||||
| Modified residue | 1408 | 1 | Phosphotyrosine Ref.12 | ||||||
| Modified residue | 1714 | 1 | Phosphoserine Ref.15 | ||||||
| Modified residue | 1943 | 1 | Phosphoserine Ref.15 Ref.8 Ref.9 Ref.10 Ref.11 Ref.13 Ref.14 Ref.16 Ref.17 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 136 | 136 | Missing in isoform 2. | VSP_035409 | |||||
| Alternative sequence | 980 – 1421 | 442 | Missing in isoform 2. | VSP_035410 | |||||
| Natural variant | 93 | 1 | N → K in MHA. Ref.20 | VAR_010791 | |||||
| Natural variant | 95 | 1 | A → T in MHA. Ref.23 | VAR_018308 | |||||
| Natural variant | 96 | 1 | S → L in EPS. Ref.30 | VAR_018309 | |||||
| Natural variant | 373 | 1 | K → N in MHA and SBS. | VAR_018310 | |||||
| Natural variant | 702 | 1 | R → C in APSM, EPS, FTNS, MHA and SBS. | VAR_010792 | |||||
| Natural variant | 702 | 1 | R → H in APSM and EPS. | VAR_018311 | |||||
| Natural variant | 705 | 1 | R → H in DFNA17. Ref.19 | VAR_010793 | |||||
| Natural variant | 810 | 1 | K → N in a breast cancer sample; somatic mutation. Ref.31 | VAR_036006 | |||||
| Natural variant | 910 | 1 | K → Q in FTNS. Ref.28 | VAR_044226 | |||||
| Natural variant | 967 | 1 | V → E: dbSNP rs16996652. | VAR_044227 | |||||
| Natural variant | 1066 – 1072 | 7 | Missing in MHA and SBS. | VAR_044228 | |||||
| Natural variant | 1114 | 1 | S → P in APSM. | VAR_018312 | |||||
| Natural variant | 1155 | 1 | T → I in MHA and FTNS. | VAR_010794 | |||||
| Natural variant | 1165 | 1 | R → C in FTNS and SBS. | VAR_010795 | |||||
| Natural variant | 1165 | 1 | R → L in FTNS, MHA and SBS. | VAR_018313 | |||||
| Natural variant | 1205 – 1207 | 3 | Missing in SBS. Ref.27 | VAR_018314 | |||||
| Natural variant | 1400 | 1 | R → W in a EPS patient; might contribute to pathogenicity; when associated with L-96. Ref.25 | VAR_018315 | |||||
| Natural variant | 1424 | 1 | D → H in FTNS and MHA. | VAR_010796 | |||||
| Natural variant | 1424 | 1 | D → N in FTNS, MHA, SBS and MPSD; affects protein stability. | VAR_018316 | |||||
| Natural variant | 1424 | 1 | D → Y in MHA. Ref.20 Ref.22 Ref.23 Ref.27 Ref.28 | VAR_018317 | |||||
| Natural variant | 1626 | 1 | I → V: dbSNP rs2269529. Ref.23 | VAR_018318 | |||||
| Natural variant | 1816 | 1 | I → V in EPS. Ref.27 | VAR_030385 | |||||
| Natural variant | 1841 | 1 | E → K in FTNS, SBS, MHA and EPS. | VAR_010797 | |||||
Experimental info | |||||||||
| Sequence conflict | 53 – 55 | 3 | EAI → RGH Ref.5 | ||||||
| Sequence conflict | 660 | 1 | T → S Ref.5 | ||||||
| Sequence conflict | 869 | 1 | T → M in AAA36349. Ref.7 | ||||||
| Sequence conflict | 931 | 1 | C → Y in AAA36349. Ref.7 | ||||||
| Sequence conflict | 1240 – 1241 | 2 | KG → GR in AAA36349. Ref.7 | ||||||
| Sequence conflict | 1350 | 1 | E → EE Ref.7 | ||||||
| Sequence conflict | 1462 | 1 | E → G in CAD89954. Ref.1 | ||||||
| Sequence conflict | 1546 | 1 | D → G in CAD89954. Ref.1 | ||||||
| Sequence conflict | 1764 | 1 | T → A in AAA36349. Ref.7 | ||||||
| Sequence conflict | 1771 | 1 | S → G in AAA36349. Ref.7 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:RESEARCH84.1-RESEARCH84.11(2004) [PubMed: 15461802] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [2] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Spinal cord. |
| [3] | "The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. Wright H.Nature 402:489-495(1999) [PubMed: 10591208] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "Cellular myosin heavy chain in human leukocytes: isolation of 5' cDNA clones, characterization of the protein, chromosomal localization, and upregulation during myeloid differentiation." Toothaker L.E., Gonzalez D.A., Tung N., Lemons R.S., le Beau M.M., Arnaout M.A., Clayton L.K., Tenen D.G. Blood 78:1826-1833(1991) [PubMed: 1912569] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1337, TISSUE SPECIFICITY. |
| [5] | "Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes." Simons M., Wang M., McBride O.W., Kawamoto S., Yamakawa K., Gdula D., Adelstein R.S., Weir L. Circ. Res. 69:530-539(1991) [PubMed: 1860190] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-715. |
| [6] | Bienvenut W.V., Claeys R. Submitted (AUG-2005) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-47; 67-74; 126-139; 187-199; 203-225; 241-261; 290-299; 328-355; 359-387; 408-419; 476-494; 546-555; 581-613; 618-637; 645-651; 657-670; 683-693; 712-718; 721-731; 746-755; 765-775; 802-810; 824-829; 834-842; 861-867; 924-930; 995-1014; 1042-1048; 1052-1075; 1081-1099; 1136-1162; 1166-1191; 1261-1266; 1278-1295; 1302-1322; 1393-1400; 1405-1413; 1418-1433; 1484-1492; 1504-1513; 1519-1525; 1529-1555; 1558-1566; 1606-1612; 1614-1638; 1642-1648; 1662-1669; 1704-1724; 1794-1802; 1807-1828; 1857-1867; 1899-1912; 1923-1932 AND 1951-1960, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, MASS SPECTROMETRY. Tissue: Platelet. |
| [7] | "Human nonmuscle myosin heavy chain mRNA: generation of diversity through alternative polyadenylylation." Saez C.G., Myers J.C., Shows T.B., Leinwand L.A. Proc. Natl. Acad. Sci. U.S.A. 87:1164-1168(1990) [PubMed: 1967836] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 714-1960. |
| [8] | "Global phosphoproteome of HT-29 human colon adenocarcinoma cells." Kim J.-E., Tannenbaum S.R., White F.M. J. Proteome Res. 4:1339-1346(2005) [PubMed: 16083285] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1943, MASS SPECTROMETRY. |
| [9] | "Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry." Tao W.A., Wollscheid B., O'Brien R., Eng J.K., Li X.-J., Bodenmiller B., Watts J.D., Hood L., Aebersold R. Nat. Methods 2:591-598(2005) [PubMed: 16094384] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1943, MASS SPECTROMETRY. Tissue: T-cell. |
| [10] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1943, MASS SPECTROMETRY. Tissue: Epithelium. |
| [11] | "A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1943, MASS SPECTROMETRY. Tissue: Epithelium. |
| [12] | "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer." Rikova K., Guo A., Zeng Q., Possemato A., Yu J., Haack H., Nardone J., Lee K., Reeves C., Li Y., Hu Y., Tan Z., Stokes M., Sullivan L., Mitchell J., Wetzel R., Macneill J., Ren J.M. Comb M.J.Cell 131:1190-1203(2007) [PubMed: 18083107] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-754 AND TYR-1408, MASS SPECTROMETRY. |
| [13] | "Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line." Giorgianni F., Zhao Y., Desiderio D.M., Beranova-Giorgianni S. Electrophoresis 28:2027-2034(2007) [PubMed: 17487921] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1943, MASS SPECTROMETRY. |
| [14] | "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry." Molina H., Horn D.M., Tang N., Mathivanan S., Pandey A. Proc. Natl. Acad. Sci. U.S.A. 104:2199-2204(2007) [PubMed: 17287340] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1943, MASS SPECTROMETRY. |
| [15] | "Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed: 18088087] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1714 AND SER-1943, MASS SPECTROMETRY. Tissue: Platelet. |
| [16] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1943, MASS SPECTROMETRY. |
| [17] | "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography." Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J. Proteomics 8:1346-1361(2008) [PubMed: 18318008] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1943, MASS SPECTROMETRY. Tissue: Liver. |
| [18] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [19] | "Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9." Lalwani A.K., Goldstein J.A., Kelley M.J., Luxford W., Castelein C.M., Mhatre A.N. Am. J. Hum. Genet. 67:1121-1128(2000) [PubMed: 11023810] [Abstract] Cited for: VARIANT DFNA17 HIS-705. |
| [20] | "Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes." Seri M., Cusano M., Gangarossa S., Caridi G., Bordo D., Lo Nigro C., Ghiggeri G.M., Ravazzolo R., Savino M., Del Vecchio M., d'Apolito M., Iolascon A., Zelante L.L., Savoia A., Balduini C.L., Noris P., Magrini U., Belletti S. Martignetti J.A.Nat. Genet. 26:103-105(2000) [PubMed: 10973259] [Abstract] Cited for: VARIANTS MHA/FTNS/SBS LYS-93; CYS-702; CYS-1165; HIS-1424 AND LYS-1841. |
| [21] | "Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly." Kelley M.J., Jawien W., Ortel T.L., Korczak J.F. Nat. Genet. 26:106-108(2000) [PubMed: 10973260] [Abstract] Cited for: VARIANTS MHA ILE-1155 AND LYS-1841. |
| [22] | "Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes." Heath K.E., Campos-Barros A., Toren A., Rozenfeld-Granot G., Carlsson L.E., Savige J., Denison J.C., Gregory M.C., White J.G., Barker D.F., Greinacher A., Epstein C.J., Glucksman M.J., Martignetti J.A. Am. J. Hum. Genet. 69:1033-1045(2001) [PubMed: 11590545] [Abstract] Cited for: VARIANTS MHA/SBS/FTNS/EPS/APSM ASN-373; CYS-702; HIS-702; PRO-1114; ASN-1424; HIS-1424 AND LYS-1841. |
| [23] | "Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions." Kunishima S., Matsushita T., Kojima T., Amemiya N., Choi Y.M., Hosaka N., Inoue M., Jung Y., Mamiya S., Matsumoto K., Miyajima Y., Zhang G., Ruan C., Saito K., Song K.S., Yoon H.-J., Kamiya T., Saito H. J. Hum. Genet. 46:722-729(2001) [PubMed: 11776386] [Abstract] Cited for: VARIANTS MHA/FTNS/SBS THR-95; CYS-1165; LEU-1165; 1205-LEU--GLN-1207 DEL; HIS-1424; ASN-1424; TYR-1424 AND LYS-1841, VARIANT VAL-1626. |
| [24] | "Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene." Seri M., Savino M., Bordo D., Cusano R., Rocca B., Meloni I., Di Bari F., Koivisto P.A., Bolognesi M., Ghiggeri G.M., Landolfi R., Balduini C.L., Zelante L., Ravazzolo R., Renieri A., Savoia A. Hum. Genet. 110:182-186(2002) [PubMed: 11935325] [Abstract] Cited for: VARIANT EPS HIS-702. |
| [25] | "Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes." Arrondel C., Vodovar N., Knebelmann B., Gruenfeld J.-P., Gubler M.-C., Antignac C., Heidet L. J. Am. Soc. Nephrol. 13:65-74(2002) [PubMed: 11752022] [Abstract] Cited for: VARIANTS FTNS/EPS LEU-96; LEU-1165; ASN-1424 AND LYS-1841, VARIANT TRP-1400, TISSUE SPECIFICITY. |
| [26] | "Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome." Deutsch S., Rideau A., Bochaton-Piallat M.-L., Merla G., Geinoz A., Gabbiani G., Schwede T., Matthes T., Antonarakis S.E., Beris P. Blood 102:529-534(2003) [PubMed: 12649151] [Abstract] Cited for: CHARACTERIZATION OF VARIANT ASN-1424. |
| [27] | "Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations." Kunishima S., Matsushita T., Kojima T., Sako M., Kimura F., Jo E.-K., Inoue C., Kamiya T., Saito H. Lab. Invest. 83:115-122(2003) [PubMed: 12533692] [Abstract] Cited for: VARIANT FTNS/SBS CYS-1165, VARIANTS SBS LEU-1165 AND 1205-LEU--GLN-1207 DEL, VARIANTS MHA HIS-1424; ASN-1424; TYR-1424 AND LYS-1841, VARIANT EPS VAL-1816, VARIANT FTNS/MHA LYS-1841. |
| [28] | "MYH9-related disease: may-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness." Seri M., Pecci A., Di Bari F., Cusano R., Savino M., Panza E., Nigro A., Noris P., Gangarossa S., Rocca B., Gresele P., Bizzaro N., Malatesta P., Koivisto P.A., Longo I., Musso R., Pecoraro C., Iolascon A. Savoia A.Medicine (Baltimore) 82:203-215(2003) [PubMed: 12792306] [Abstract] Cited for: VARIANT EPS HIS-702, VARIANTS FTNS GLN-910; ILE-1155 AND HIS-1424, VARIANTS MHA/SBS 1066-GLU--ALA-1072 DEL AND ASN-1424, VARIANT EPS/FTNS/MHA/SBS CYS-702. |
| [29] | "Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9." Mhatre A.N., Kim Y., Brodie H.A., Lalwani A.K. Otol. Neurotol. 24:205-209(2003) [PubMed: 12621333] [Abstract] Cited for: VARIANT MPSD ASN-1424. |
| [30] | "Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?" Utsch B., DiFeo A., Kujat A., Karle S., Schuster V., Lenk H., Jacobs U., Mueller M., Doetsch J., Rascher W., Reutter H., Martignetti J.A., Ludwig M., Troebs R.-B. Am. J. Med. Genet. A 140:2251-2253(2006) [PubMed: 16969870] [Abstract] Cited for: VARIANT EPS LEU-96. |
| [31] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-810. |
| [32] | "Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease." Pecci A., Panza E., Pujol-Moix N., Klersy C., Di Bari F., Bozzi V., Gresele P., Lethagen S., Fabris F., Dufour C., Granata A., Doubek M., Pecoraro C., Koivisto P.A., Heller P.G., Iolascon A., Alvisi P., Schwabe D. Savoia A.Hum. Mutat. 29:409-417(2008) [PubMed: 18059020] [Abstract] Cited for: POSITION OF MUTATIONS IN MYH9-RELATED DISEASE. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| CR456526 mRNA. Translation: CAG30412.1. AL832639 mRNA. Translation: CAD89954.1. Frameshift. Z82215 Genomic DNA. Translation: CAB05105.1. M81105 mRNA. Translation: AAA59888.1. M69180 mRNA. Translation: AAA61765.1. M31013 mRNA. Translation: AAA36349.1. | |
| IPI | IPI00019502. IPI00395772. |
| PIR | A61231. |
| RefSeq | NP_002464.1. |
| UniGene | Hs.474751 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1BR2 based on UniProtKB P10587. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P35579. 22 interactions. |
PTM databases | |
| PhosphoSite | P35579. |
Proteomic databases | |
| PeptideAtlas | P35579. |
| PRIDE | P35579. |
Genome annotation databases | |
| Ensembl | ENSG00000100345. Homo sapiens. [Contig view] |
| GeneID | 4627. |
| KEGG | hsa:4627. |
Organism-specific databases | |
| GeneCards | GC22M035001. |
| H-InvDB | HIX0016424. |
| HGNC | HGNC:7579. MYH9. |
| HPA | CAB015386. HPA001644. |
| MIM | 153640. phenotype. 153650. phenotype. 155100. phenotype. 160775. gene. 600208. phenotype. 603622. phenotype. 605249. phenotype. |
| Orphanet | 90635. Deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA. 1019. Epstein syndrome. 1984. Fechtner syndrome. 850. May-Hegglin thrombocytopenia. 87884. Nonsyndromic genetic deafness. 807. Sebastian syndrome. |
| PharmGKB | PA31377. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | P35579. |
| HOVERGEN | P35579. |
| OMA | P35579. KHSQAVE. |
Gene expression databases | |
| ArrayExpress | P35579. |
| Bgee | P35579. |
| CleanEx | HS_MYH9. |
| GermOnline | ENSG00000100345. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000048. IQ_CaM_bd_region. IPR001609. Myosin_head. IPR004009. Myosin_N. IPR002928. Myosin_tail. [Graphical view] |
| Pfam | PF00612. IQ. 1 hit. PF00063. Myosin_head. 1 hit. PF02736. Myosin_N. 1 hit. PF01576. Myosin_tail_1. 1 hit. [Graphical view] |
| PRINTS | PR00193. MYOSINHEAVY. |
| ProDom | PD000355. Myosin_head. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| SMART | SM00015. IQ. 1 hit. SM00242. MYSc. 1 hit. [Graphical view] |
| PROSITE | PS50096. IQ. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 17810. |
| PMAP-CutDB | P35579. |
| SOURCE | Search... |
Entry information
| Entry name | MYH9_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P35579 Secondary accession number(s): O60805, Q86T83 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 22 Human chromosome 22: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


