ENSG00000196588


Homo sapiens

Features
Gene ID: ENSG00000196588
  
Biological name :MKL1
  
Synonyms : megakaryoblastic leukemia (translocation) 1 / MKL1 / Q969V6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: -1
Band: q13.2
Gene start: 40410281
Gene end: 40636702
  
Corresponding Affymetrix probe sets: 1555763_x_at (Human Genome U133 Plus 2.0 Array)   1559902_at (Human Genome U133 Plus 2.0 Array)   212748_at (Human Genome U133 Plus 2.0 Array)   215291_at (Human Genome U133 Plus 2.0 Array)   215292_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000385584
Ensembl peptide - ENSP00000385076
Ensembl peptide - ENSP00000385835
Ensembl peptide - ENSP00000484786
Ensembl peptide - ENSP00000484628
Ensembl peptide - ENSP00000479510
Ensembl peptide - ENSP00000478420
Ensembl peptide - ENSP00000398478
Ensembl peptide - ENSP00000347847
Ensembl peptide - ENSP00000379861
NCBI entrez gene - 57591     See in Manteia.
OMIM - 606078
RefSeq - XM_017028889
RefSeq - NM_001282660
RefSeq - NM_001282661
RefSeq - NM_001282662
RefSeq - NM_001318139
RefSeq - NM_020831
RefSeq - XM_005261692
RefSeq - XM_005261694
RefSeq - XM_011530283
RefSeq - XM_011530285
RefSeq - XM_011530287
RefSeq - XM_017028888
RefSeq Peptide - NP_001269590
RefSeq Peptide - NP_001269591
RefSeq Peptide - NP_001305068
RefSeq Peptide - NP_065882
RefSeq Peptide - NP_001269589
swissprot - B0QY83
swissprot - B0QY74
swissprot - A0A087X287
swissprot - A0A087WU73
swissprot - Q29R68
swissprot - Q969V6
swissprot - W0Z7M9
swissprot - E7ER32
swissprot - B0QY84
Ensembl - ENSG00000196588
  
Related genetic diseases (OMIM): 606078 - Megakaryoblastic leukemia, acute
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mkl1aENSDARG00000075867Danio rerio
 mkl1bENSDARG00000076229Danio rerio
 MKL1ENSGALG00000012024Gallus gallus
 Mkl1ENSMUSG00000042292Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MKL2 / Q9ULH7 / MKL1/myocardin like 2ENSG0000018626047
MYOCD / Q8IZQ8 / myocardinENSG0000014105236


Protein motifs (from Interpro)
Interpro ID Name
 IPR003034  SAP domain
 IPR004018  RPEL repeat
 IPR029992  MKL/myocardin-like protein 1
 IPR035500  Nuclear hormone receptor-like domain superfamily
 IPR036361  SAP domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001764 neuron migration IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0010735 positive regulation of transcription via serum response element binding IEA
 biological_processGO:0030036 actin cytoskeleton organization IEA
 biological_processGO:0030900 forebrain development IEA
 biological_processGO:0031175 neuron projection development IEA
 biological_processGO:0032515 negative regulation of phosphoprotein phosphatase activity IEA
 biological_processGO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0051145 smooth muscle cell differentiation IMP
 biological_processGO:2001234 negative regulation of apoptotic signaling pathway IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 molecular_functionGO:0000976 transcription regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0003713 transcription coactivator activity IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0003785 actin monomer binding IEA
 molecular_functionGO:0004864 protein phosphatase inhibitor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0043522 leucine zipper domain binding IPI


Pathways (from Reactome)
Pathway description
SUMOylation of transcription cofactors
RHO GTPases Activate Formins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000131504 DIAPH1 / O60610 / diaphanous related formin 1  / reaction
 ENSG00000067560 RHOA / P61586 / ras homolog family member A  / reaction
 ENSG00000112658 SRF / P11831 / serum response factor  / reaction / complex
 ENSG00000184009 ACTG1 / P63261 / actin gamma 1  / reaction / complex
 ENSG00000075624 ACTB / P60709 / actin beta  / reaction / complex
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / complex / reaction
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction
 ENSG00000196588 MKL1 / Q969V6 / megakaryoblastic leukemia (translocation) 1  / reaction
 ENSG00000173611 SCAI / Q8N9R8 / suppressor of cancer cell invasion  / complex / reaction
 ENSG00000196405 EVL / Q9UI08 / Enah/Vasp-like  / reaction






 

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