• Gene id: 57591

Gene Summary

• Gene Symbol: MRTFA   Gene   UCSC   Ensembl
• Aliases: BSAC, MAL, MKL, MKL1, MRTF-A
• Gene name: myocardin related transcription factor A
• Alternate names: myocardin-related transcription factor A, MKL/myocardin-like protein 1, basic, SAP and coiled-coil domain, megakaryoblastic leukemia (translocation) 1, megakaryoblastic leukemia 1 protein, megakaryocytic acute leukemia protein,
• Gene location: 22q13.1-q13.2 (111686052: 111757098)     Exons: 22     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 606078

Protein Summary

• Protein general information: Q969V6  
  • Name: Myocardin related transcription factor A (MRTF A) (MKL/myocardin like protein 1) (Megakaryoblastic leukemia 1 protein) (Megakaryocytic acute leukemia protein)
  • Length: 931  
  • Mass: 98919
  • Tissue specificity: Ubiquitously expressed, has been detected in lung, placenta, small intestine, liver, kidney, spleen, thymus, colon, muscle, heart and brain. {ECO
• Sequence:

  MPPLKSPAAFHEQRRSLERARTEDYLKRKIRSRPERSELVRMHILEETSAEPSLQAKQLKLKRARLADDLNEKIA
  QRPGPMELVEKNILPVESSLKEAIIVGQVNYPKVADSSSFDEDSSDALSPEQPASHESQGSVPSPLEARVSEPLL
  SATSASPTQVVSQLPMGRDSREMLFLAEQPPLPPPPLLPPSLTNGTTIPTAKSTPTLIKQSQPKSASEKSQRSKK
  AKELKPKVKKLKYHQYIPPDQKQDRGAPPMDSSYAKILQQQQLFLQLQILNQQQQQHHNYQAILPAPPKSAGEAL
  GSSGTPPVRSLSTTNSSSSSGAPGPCGLARQNSTSLTGKPGALPANLDDMKVAELKQELKLRSLPVSGTKTELIE
  RLRAYQDQISPVPGAPKAPAATSILHKAGEVVVAFPAARLSTGPALVAAGLAPAEVVVATVASSGVVKFGSTGST
  PPVSPTPSERSLLSTGDENSTPGDTFGEMVTSPLTQLTLQASPLQILVKEEGPRAGSCCLSPGGRAELEGRDKDQ
  MLQEKDKQIEALTRMLRQKQQLVERLKLQLEQEKRAQQPAPAPAPLGTPVKQENSFSSCQLSQQPLGPAHPFNPS
  LAAPATNHIDPCAVAPGPPSVVVKQEALQPEPEPVPAPQLLLGPQGPSLIKGVAPPTLITDSTGTHLVLTVTNKN
  ADSPGLSSGSPQQPSSQPGSPAPAPSAQMDLEHPLQPLFGTPTSLLKKEPPGYEEAMSQQPKQQENGSSSQQMDD
  LFDILIQSGEISADFKEPPSLPGKEKPSPKTVCGSPLAAQPSPSAELPQAAPPPPGSPSLPGRLEDFLESSTGLP
  LLTSGHDGPEPLSLIDDLHSQMLSSTAILDHPPSPMDTSELHFVPEPSSTMGLDLADGHLDSMDWLELSSGGPVL
  SLAPLSTTAPSLFSTDFLDGHDLQLHWDSCL

• Structural information:
  • Protein Domains: (347..38-)
    (/note="SAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00186"-)
  • Interpro: IPR029992  IPR004018  IPR003034  IPR036361  
  • Prosite: PS51073 PS50800
  • PDB: 2KVU 2KW9
  • PDBsum: 2KVU 2KW9
  • STRING: ENSP00000347847
• Other Databases: GeneCards:  MRTFA  Malacards:  MRTFA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044319	wound healing, spreading of cells	IDA	biological process
GO:0003713	transcription coactivator activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0051145	smooth muscle cell differentiation	IBA	biological process
GO:0003779	actin binding	IDA	molecular function
GO:0010735	positive regulation of transcription via serum response element binding	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0030036	actin cytoskeleton organization	ISS	biological process
GO:0003785	actin monomer binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003713	transcription coactivator activity	ISS	molecular function
GO:0003785	actin monomer binding	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0010735	positive regulation of transcription via serum response element binding	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043522	leucine zipper domain binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0051145	smooth muscle cell differentiation	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
megakaryocytic leukemia	PMID:11431691
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq