MRTFA (myocardin related transcription factor A)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57591
Gene name Gene Name - the full gene name approved by the HGNC.
Myocardin related transcription factor A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MRTFA
Synonyms (NCBI Gene) Gene synonyms aliases
BSAC, MAL, MKL, MKL1, MRTF-A
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.1-q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 blotting, qRT-PCR 32692361
MIRT735162 hsa-miR-486-5p Western blotting, qRT-PCR 32692361
MIRT735787 hsa-miR-411-3p Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR 32464548
MIRT735787 hsa-miR-411-3p Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR, In situ hybridization 32464548
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606078 14334 ENSG00000196588
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency Immunodeficiency 66 rs2052705192 N/A
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer (estrogen-receptor negative), Postmenopausal breast cancer N/A N/A GWAS
Breast cancer Breast cancer N/A N/A GWAS
Carpal Tunnel Syndrome Carpal tunnel syndrome N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Show/Hide Text Mining Associations (37)
Associations from Text Mining Disease 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