Property Summary

NCBI Gene PubMed Count 58
Grant Count 203
R01 Count 108
Funding $18,974,603.73
PubMed Score 391.08
PubTator Score 190.96

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P35749 D2JYH7 O00396 O94944 P78422 Q3MIV8 Q3MNF0 Q3MNF1
Symbols AAT4
FAA4
SMHC
SMMHC

Gene

Gene RIF (39)

PMID Text
26056961 Deletion mutation in MYH11 gene causing familial Thoracic aortic dissection was identified in two independent Japanese pedigrees.
26017485 In familial AAA we found one pathogenic and segregating variant (COL3A1 p.Arg491X), one likely pathogenic and segregating (MYH11 p.Arg254Cys), and fifteen VUS.
25266220 we report a novel hypomethylation pattern, specific to CBFB-MYH11 fusion resulting from inv(16) rearrangement in acute myeloid leukemia the expression of which correlated with PBX3 differential methylation
25181625 Data suggest that expression of MYH11, myosin light chain, and MLCK (myosin-light-chain kinase), is up-regulated in uterine myoma as compared to adjacent smooth muscle cells; expression of MYH11 appears to be involved in cell proliferation.
25079347 CBFB contributes to the transcriptional regulation of ribosomal gene expression and provide further understanding of the epigenetic role of CBFB-SMMHC in proliferation and maintenance of the leukemic phenotype.
24921172 MYH11 gene mutation is associated with family history of thoracic aortic aneurysm dissection.
24711452 overexpression of MYH11 can lead to increased ER stress and autophagy
24002588 Transcriptional analysis revealed that upon fusion protein knockdown, a small subset of the CBFbeta-MYH11 target genes show increased expression, confirming a role in transcriptional repression
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of myosin, heavy chain 11 (MYH11, smooth muscle) expression by HIV-1 Vpr in Vpr transduced macrophages
23160462 We conclude that non-type A CBFB-MYH11 fusion types associate with distinct clinical and genetic features, including lack of KIT mutations, and a unique gene-expression profile in acute myeloid leukemia
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AA Sequence

MAQKGQLSDDEKFLFVDKNFINSPVAQADWAAKRLVWVPSEKQGFEAASIKEEKGDEVVVELVENGKKVT      1 - 70
VGKDDIQKMNPPKFSKVEDMAELTCLNEASVLHNLRERYFSGLIYTYSGLFCVVVNPYKHLPIYSEKIVD     71 - 140
MYKGKKRHEMPPHIYAIADTAYRSMLQDREDQSILCTGESGAGKTENTKKVIQYLAVVASSHKGKKDTSI    141 - 210
TGELEKQLLQANPILEAFGNAKTVKNDNSSRFGKFIRINFDVTGYIVGANIETYLLEKSRAIRQARDERT    211 - 280
FHIFYYMIAGAKEKMRSDLLLEGFNNYTFLSNGFVPIPAAQDDEMFQETVEAMAIMGFSEEEQLSILKVV    281 - 350
SSVLQLGNIVFKKERNTDQASMPDNTAAQKVCHLMGINVTDFTRSILTPRIKVGRDVVQKAQTKEQADFA    351 - 420
VEALAKATYERLFRWILTRVNKALDKTHRQGASFLGILDIAGFEIFEVNSFEQLCINYTNEKLQQLFNHT    421 - 490
MFILEQEEYQREGIEWNFIDFGLDLQPCIELIERPNNPPGVLALLDEECWFPKATDKSFVEKLCTEQGSH    491 - 560
PKFQKPKQLKDKTEFSIIHYAGKVDYNASAWLTKNMDPLNDNVTSLLNASSDKFVADLWKDVDRIVGLDQ    561 - 630
MAKMTESSLPSASKTKKGMFRTVGQLYKEQLGKLMTTLRNTTPNFVRCIIPNHEKRSGKLDAFLVLEQLR    631 - 700
CNGVLEGIRICRQGFPNRIVFQEFRQRYEILAANAIPKGFMDGKQACILMIKALELDPNLYRIGQSKIFF    701 - 770
RTGVLAHLEEERDLKITDVIMAFQAMCRGYLARKAFAKRQQQLTAMKVIQRNCAAYLKLRNWQWWRLFTK    771 - 840
VKPLLQVTRQEEEMQAKEDELQKTKERQQKAENELKELEQKHSQLTEEKNLLQEQLQAETELYAEAEEMR    841 - 910
VRLAAKKQELEEILHEMEARLEEEEDRGQQLQAERKKMAQQMLDLEEQLEEEEAARQKLQLEKVTAEAKI    911 - 980
KKLEDEILVMDDQNNKLSKERKLLEERISDLTTNLAEEEEKAKNLTKLKNKHESMISELEVRLKKEEKSR    981 - 1050
QELEKLKRKLEGDASDFHEQIADLQAQIAELKMQLAKKEEELQAALARLDDEIAQKNNALKKIRELEGHI   1051 - 1120
SDLQEDLDSERAARNKAEKQKRDLGEELEALKTELEDTLDSTATQQELRAKREQEVTVLKKALDEETRSH   1121 - 1190
EAQVQEMRQKHAQAVEELTEQLEQFKRAKANLDKNKQTLEKENADLAGELRVLGQAKQEVEHKKKKLEAQ   1191 - 1260
VQELQSKCSDGERARAELNDKVHKLQNEVESVTGMLNEAEGKAIKLAKDVASLSSQLQDTQELLQEETRQ   1261 - 1330
KLNVSTKLRQLEEERNSLQDQLDEEMEAKQNLERHISTLNIQLSDSKKKLQDFASTVEALEEGKKRFQKE   1331 - 1400
IENLTQQYEEKAAAYDKLEKTKNRLQQELDDLVVDLDNQRQLVSNLEKKQRKFDQLLAEEKNISSKYADE   1401 - 1470
RDRAEAEAREKETKALSLARALEEALEAKEELERTNKMLKAEMEDLVSSKDDVGKNVHELEKSKRALETQ   1471 - 1540
MEEMKTQLEELEDELQATEDAKLRLEVNMQALKGQFERDLQARDEQNEEKRRQLQRQLHEYETELEDERK   1541 - 1610
QRALAAAAKKKLEGDLKDLELQADSAIKGREEAIKQLRKLQAQMKDFQRELEDARASRDEIFATAKENEK   1611 - 1680
KAKSLEADLMQLQEDLAAAERARKQADLEKEELAEELASSLSGRNALQDEKRRLEARIAQLEEELEEEQG   1681 - 1750
NMEAMSDRVRKATQQAEQLSNELATERSTAQKNESARQQLERQNKELRSKLHEMEGAVKSKFKSTIAALE   1751 - 1820
AKIAQLEEQVEQEAREKQAATKSLKQKDKKLKEILLQVEDERKMAEQYKEQAEKGNARVKQLKRQLEEAE   1821 - 1890
EESQRINANRRKLQRELDEATESNEAMGREVNALKSKLRRGNETSFVPSRRSGGRRVIENADGSEEETDT   1891 - 1960
RDADFNGTKASE                                                             1961 - 1972
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Text Mined References (62)

PMID Year Title
26056961 2015 A deletion mutation in myosin heavy chain 11 causing familial thoracic aortic dissection in two Japanese pedigrees.
26017485 2015 First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.
25266220 2014 CBFB-MYH11 hypomethylation signature and PBX3 differential methylation revealed by targeted bisulfite sequencing in patients with acute myeloid leukemia.
25181625 2014 Overexpression of myosin is associated with the development of uterine myoma.
25079347 2014 CBF? and the leukemogenic fusion protein CBF?-SMMHC associate with mitotic chromosomes to epigenetically regulate ribosomal genes.
24921172 2014 Successful long-term management of iris flocculi and miosis in a patient with a strong family history of thoracic aortic aneurysms and dissections associated with an MYH11 mutation.
24823311 2014 Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
24711452 2014 Overexpression of smooth muscle myosin heavy chain leads to activation of the unfolded protein response and autophagic turnover of thick filament-associated proteins in vascular smooth muscle cells.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24002588 2014 CBFB-MYH11/RUNX1 together with a compendium of hematopoietic regulators, chromatin modifiers and basal transcription factors occupies self-renewal genes in inv(16) acute myeloid leukemia.
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