MRTFA
Myocardin-related transcription factor A
Also known as: BSAC, KIAA1438, MAL, MKL, MKL1, MRTF-A, MRTFA_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q969V6
- Gene
- MRTFA
- Ensembl
- ENSG00000196588
- Chromosome
- 22
- Canonical length
- 931 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI 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. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Canonical amino-acid sequenceUniProt
931 residues, UniProt reviewed canonical sequence.
>Q969V6|MRTFA
1 MPPLKSPAAF HEQRRSLERA RTEDYLKRKI RSRPERSELV RMHILEETSA EPSLQAKQLK
61 LKRARLADDL NEKIAQRPGP MELVEKNILP VESSLKEAII VGQVNYPKVA DSSSFDEDSS
121 DALSPEQPAS HESQGSVPSP LEARVSEPLL SATSASPTQV VSQLPMGRDS REMLFLAEQP
181 PLPPPPLLPP SLTNGTTIPT AKSTPTLIKQ SQPKSASEKS QRSKKAKELK PKVKKLKYHQ
241 YIPPDQKQDR GAPPMDSSYA KILQQQQLFL QLQILNQQQQ QHHNYQAILP APPKSAGEAL
301 GSSGTPPVRS LSTTNSSSSS GAPGPCGLAR QNSTSLTGKP GALPANLDDM KVAELKQELK
361 LRSLPVSGTK TELIERLRAY QDQISPVPGA PKAPAATSIL HKAGEVVVAF PAARLSTGPA
421 LVAAGLAPAE VVVATVASSG VVKFGSTGST PPVSPTPSER SLLSTGDENS TPGDTFGEMV
481 TSPLTQLTLQ ASPLQILVKE EGPRAGSCCL SPGGRAELEG RDKDQMLQEK DKQIEALTRM
541 LRQKQQLVER LKLQLEQEKR AQQPAPAPAP LGTPVKQENS FSSCQLSQQP LGPAHPFNPS
601 LAAPATNHID PCAVAPGPPS VVVKQEALQP EPEPVPAPQL LLGPQGPSLI KGVAPPTLIT
661 DSTGTHLVLT VTNKNADSPG LSSGSPQQPS SQPGSPAPAP SAQMDLEHPL QPLFGTPTSL
721 LKKEPPGYEE AMSQQPKQQE NGSSSQQMDD LFDILIQSGE ISADFKEPPS LPGKEKPSPK
781 TVCGSPLAAQ PSPSAELPQA APPPPGSPSL PGRLEDFLES STGLPLLTSG HDGPEPLSLI
841 DDLHSQMLSS TAILDHPPSP MDTSELHFVP EPSSTMGLDL ADGHLDSMDW LELSSGGPVL
901 SLAPLSTTAP SLFSTDFLDG HDLQLHWDSC LLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MRTFA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.65
- Highest tissue expression
- 66 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 66 nTPM
- blood vessel: 36 nTPM
- endometrium: 34 nTPM
- testis: 34 nTPM
- spleen: 27 nTPM
- cerebral cortex: 27 nTPM
Single-cell type
- neutrophils: 695 nCPM
- cone photoreceptor cells: 631 nCPM
- neutrophil progenitors: 596 nCPM
- pituicytes/fscs: 522 nCPM
- sertoli cells: 470 nCPM
- salivary myoepithelial cells: 418 nCPM
Immune cell
- eosinophil: 190 nTPM
- plasmacytoid DC: 93 nTPM
- myeloid DC: 64 nTPM
- non-classical monocyte: 59 nTPM
- neutrophil: 56 nTPM
- classical monocyte: 54 nTPM
Brain region
- hippocampal formation: 63 nTPM
- cerebral cortex: 61 nTPM
- basal ganglia: 59 nTPM
- amygdala: 53 nTPM
- white matter: 52 nTPM
- choroid plexus: 47 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MRTFA.
Disease | AllUniProt
Conditions MRTFA is implicated in, by any mechanism.
- Immunodeficiency 66 (IMD66) MIM:618847
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 930 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Immunodeficiency 66
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.51
- gnomAD pLI
- 0.83
- DepMap mean gene effect
- -0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin cytoskeleton organization
- positive regulation of miRNA transcription
- positive regulation of transcription by RNA polymerase II
- smooth muscle cell differentiation
- wound healing, spreading of cells
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MRTFA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MRTFA as an antibody target. Whether an autoantibody or antibody against MRTFA could matter depends on whether native MRTFA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MRTFA is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MRTFA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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