MRTFA (myocardin related transcription factor A)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 57591
Gene name Myocardin related transcription factor A
Gene symbol MRTFA
Synonyms (NCBI Gene)
BSACMALMKLMKL1MRTF-A
Chromosome 22
Chromosome location 22q13.1-q13.2
Summary The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. Th
miRNA miRNA information provided by mirtarbase database.
4
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
miRTarBase ID miRNA Experiments Reference
MIRT735161 hsa-miR-24-3p Western blottingqRT-PCR 32692361
MIRT735162 hsa-miR-486-5p Western blottingqRT-PCR 32692361
MIRT735787 hsa-miR-411-3p Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)qRT-PCR 32464548
MIRT735787 hsa-miR-411-3p Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)qRT-PCRIn situ hybridization 32464548
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0003713 Function Transcription coactivator activity IBA
GO:0003713 Function Transcription coactivator activity IEA
GO:0003713 Function Transcription coactivator activity IGI 23764775
GO:0003713 Function Transcription coactivator activity ISS
GO:0003779 Function Actin binding IDA 24440334
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606078 14334 ENSG00000196588
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q969V6
Protein name Myocardin-related transcription factor A (MRTF-A) (MKL/myocardin-like protein 1) (Megakaryoblastic leukemia 1 protein) (Megakaryocytic acute leukemia protein)
Protein function Transcription coactivator that associates with the serum response factor (SRF) transcription factor to control expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration (PubMed:26224645). The SRF-MRTFA
PDB 2KVU , 2KW9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02755 RPEL 25 → 48 RPEL repeat Disordered
PF02755 RPEL 69 → 92 RPEL repeat Disordered
PF02037 SAP 347 → 381 SAP domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, has been detected in lung, placenta, small intestine, liver, kidney, spleen, thymus, colon, muscle, heart and brain (PubMed:11344311). Expressed in peripheral blood mononuclear cells (at protein level) (PubMed:2
Sequence 
MPPLKSPAAFHEQRRSLERARTEDYLKRKIRSRPERSELVRMHILEETSAEPSLQAKQLK
LKRARLADDLNEKIAQRPGPMELVEKNILPVESSLKEAIIVGQVNYPKVADSSSFDEDSS
DALSPEQPASHESQGSVPSPLEARVSEPLLSATSASPTQVVSQLPMGRDSREMLFLAEQP
PLPPPPLLPPSLTNGTTIPTAKSTPTLIKQSQPKSASEKSQRSKKAKELKPKVKKLKYHQ
YIPPDQKQDRGAPPMDSSYAKILQQQQLFLQLQILNQQQQQHHNYQAILPAPPKSAGEAL
GSSGTPPVRSLSTTNSSSSSGAPGPCGLARQNSTSLTGKPGALPANLDDMKVAELKQELK
LRSLPVSGTKTELIERLRAYQDQISPVPGAPKAPAATSILHKAGEVVVAFPAARLSTGPA
LVAAGLAPAEVVVATVASSGVVKFGSTGSTPPVSPTPSERSLLSTGDENSTPGDTFGEMV
TSPLTQLTLQASPLQILVKEEGPRAGSCCLSPGGRAELEGRDKDQMLQEKDKQIEALTRM
LRQKQQLVERLKLQLEQEKRAQQPAPAPAPLGTPVKQENSFSSCQLSQQPLGPAHPFNPS
LAAPATNHIDPCAVAPGPPSVVVKQEALQPEPEPVPAPQLLLGPQGPSLIKGVAPPTLIT
DSTGTHLVLTVTNKNADSPGLSSGSPQQPSSQPGSPAPAPSAQMDLEHPLQPLFGTPTSL
LKKEPPGYEEAMSQQPKQQENGSSSQQMDDLFDILIQSGEISADFKEPPSLPGKEKPSPK
TVCGSPLAAQPSPSAELPQAAPPPPGSPSLPGRLEDFLESSTGLPLLTSGHDGPEPLSLI
DDLHSQMLSSTAILDHPPSPMDTSELHFVPEPSSTMGLDLADGHLDSMDWLELSSGGPVL
SLAPLSTTAPSLFSTDFLDGHDLQLHWDSCL
Sequence length 931
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    SUMOylation of transcription cofactors
RHO GTPases Activate Formins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Immunodeficiency 66 Pathogenic rs2052705192 RCV001078160
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign rs56211152 RCV005914025
Gastric cancer Conflicting classifications of pathogenicity rs72655384 RCV005930021
MRTFA-related disorder Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity rs754085988, rs186548971, rs200833366, rs373182628, rs538107883, rs373988834, rs72655386, rs8135911, rs181447706, rs1222007621, rs201298872, rs199562166, rs141926991, rs140747739, rs377354263
View all (14 more)		 RCV003928853
RCV003928873
RCV003953809
RCV003938781
RCV003956054
RCV003908758
RCV003908853
RCV003980603
RCV003948753
RCV003960963
RCV003951353
RCV003903630
RCV003960964
RCV003943322
RCV003903631
RCV003943323
RCV003960965
RCV003943324
RCV004757530
RCV003973362
RCV004757531
RCV004757532
RCV003960966
RCV003933706
RCV003898718
RCV003936703
RCV003943079
RCV003935810
RCV003968166
Uterine carcinosarcoma Benign rs56211152 RCV005914026
Show/Hide Text Mining Associations (37)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bacterial Infections Associate 26224645
Breast Neoplasms Associate 24084383, 24325915, 24495796, 24721635, 25862352, 29077787, 30106093, 31759986, 33894309, 34321149, 34761735, 40448123
Calcinosis Cutis Associate 24495796
Carcinoma Hepatocellular Associate 32156248
Coronary Disease Associate 32770617
Diabetes Mellitus Associate 36815184
Ependymoma Associate 25909290
Esophageal Neoplasms Associate 36204878
Fibrocartilaginous embolism Associate 31638828, 33415745
Glioblastoma Associate 26459764