MYH9_HUMAN
Source:
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Non-membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
MYH9
Protein names and data:
MYH9_HUMAN
, Myosin-9
, Cellular myosin heavy chain, type A; Myosin heavy chain 9; Myosin heavy chain, non-muscle IIa; Non-muscle myosin heavy chain A; NMMHC-A; Non-muscle myosin heavy chain IIa; NMMHC II-a; NMMHC-IIA
Lenght: 1960 a.a.
Mass: 226532 Da
fasta formatted sequence
Function:
Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10.
Disease:
( OMIM:
153640
153650
155100
160775
600208
603622
605249
)
May-Hegglin anomaly (MHA) [MIM:155100]: A disorder characterized by thrombocytopenia, giant platelets and Dohle body- like inclusions in peripheral blood leukocytes. appearing as highly parallel paracrystalline bodies. Note=The disease is caused by mutations affecting the gene represented in this entry. Sebastian syndrome (SBS) [MIM:605249]: Autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are smaller and less organized than in May-Hegglin anomaly. Note=The disease is caused by mutations affecting the gene represented in this entry. Fechtner syndrome (FTNS) [MIM:153640]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Alport syndrome, with macrothrombocytopenia (APSM) [MIM:153650]: An autosomal dominant disorder characterized by the association of ocular lesions, sensorineural hearing loss and nephritis (Alport syndrome) with platelet defects. Note=The disease is caused by mutations affecting the gene represented in this entry. Epstein syndrome (EPS) [MIM:153650]: An autosomal dominant disorder characterized by the association of macrothrombocytopathy, sensorineural hearing loss and nephritis. Note=The disease is caused by mutations affecting the gene represented in this entry. Deafness, autosomal dominant, 17 (DFNA17) [MIM:603622]: A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration. Note=The disease is caused by mutations affecting the gene represented in this entry. Macrothrombocytopenia and progressive sensorineural deafness (MPSD) [MIM:600208]: An autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction. Note=The disease is caused by mutations affecting the gene represented in this entry. Note=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. Note=Genetic variations in MYH9 are associated with non- diabetic end stage renal disease (ESRD).
Cellular location:
Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cell cortex (By similarity). Note=Colocalizes with actin filaments at lamellipodia margins and at the leading edge of migrating cells.
Tissue specificity:
In the kidney, expressed in the glomeruli. Also expressed in leukocytes.
Genetic variants
93 - 93
N -> K (in MHA). VAR_010791
95 - 95
A -> T (in MHA). VAR_018308
96 - 96
S -> L (in EPS). VAR_018309
373 - 373
K -> N (in MHA and SBS). VAR_018310
702 - 702
R -> C (in APSM, EPS, FTNS, MHA and SBS). VAR_010792
702 - 702
R -> H (in APSM and EPS). VAR_018311
705 - 705
R -> H (in DFNA17). VAR_010793
810 - 810
K -> N (in a breast cancer sample; somatic mutation). VAR_036006
910 - 910
K -> Q (in FTNS). VAR_044226
967 - 967
V -> E (in dbSNP:rs16996652). VAR_044227
16996652
1066 - 1072
Missing (in MHA and SBS). VAR_044228
1114 - 1114
S -> P (in APSM). VAR_018312
1155 - 1155
T -> I (in MHA and FTNS). VAR_010794
1165 - 1165
R -> C (in FTNS and SBS). VAR_010795
1165 - 1165
R -> L (in FTNS, MHA and SBS). VAR_018313
1205 - 1207
Missing (in SBS). VAR_018314
1400 - 1400
R -> W (in a EPS patient; might contribute to pathogenicity; when associated with L-96; dbSNP:rs76368635). VAR_018315
76368635
1424 - 1424
D -> H (in FTNS and MHA). VAR_010796
1424 - 1424
D -> N (in FTNS, MHA, SBS and MPSD; affects protein stability). VAR_018316
1424 - 1424
D -> Y (in MHA). VAR_018317
1626 - 1626
I -> V (in dbSNP:rs2269529). VAR_018318
2269529
1816 - 1816
I -> V (in EPS). VAR_030385
1841 - 1841
E -> K (in FTNS, SBS, MHA and EPS). VAR_010797
Database cross-references
UniProt:
P35579
Ensembl:
ENST00000216181
MIM:
153640
MIM:
153650
MIM:
155100
MIM:
160775
MIM:
600208
MIM:
603622
MIM:
605249
neXtProt:
NX_P35579
Antibodypedia:
P35579
(may not find the protein thus also not any antibody)
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