MKL1
entrez
57591
canonical
uniprot
Q969V6
canonical
ensembl
ENSG00000196588
resolver
ensp
ENSP00000347847
resolver
ensp
ENSP00000385584
resolver
ensp
ENSP00000385835
resolver
ensp
ENSP00000498277
resolver
ensp
ENSP00000498671
resolver
enst
ENST00000355630
resolver
enst
ENST00000402042
resolver
enst
ENST00000407029
resolver
enst
ENST00000651595
resolver
enst
ENST00000652095
resolver
genesymbol
MKL1
resolver
genesymbol
MRTFA
resolver
genesymbol
mkl1
resolver
genesymbol_syn
KIAA1438
resolver
genesymbol_syn
MAL
resolver
genesymbol_syn
MKL1
resolver
hgnc
HGNC:14334
resolver
uniprot
A0A494BZX7
resolver
uniprot
A0A494C0P8
resolver
uniprot
A0A499FIJ6
resolver
uniprot
A4FUJ8
resolver
uniprot
B0QY83
resolver
uniprot
Q8TCL1
resolver
uniprot
Q96SC5
resolver
uniprot
Q96SC6
resolver
uniprot
Q9P2B0
resolver
uniprot
W0Z7M9
resolver
uniprot_entry
A0A494BZX7_HUMAN
resolver
uniprot_entry
A0A494C0P8_HUMAN
resolver
uniprot_entry
A0A499FIJ6_HUMAN
resolver
uniprot_entry
A4FUJ8_HUMAN
resolver
uniprot_entry
B0QY83_HUMAN
resolver
uniprot_entry
MRTFA_HUMAN
resolver
uniprot_entry
W0Z7M9_HUMAN
resolver
uniprot_sec
Q8TCL1
resolver
uniprot_sec
Q96SC5
resolver
uniprot_sec
Q96SC6
resolver
uniprot_sec
Q9P2B0
resolver
amino_acid_sequence
MPPLKSPAAFHEQRRSLERARTEDYLKRKIRSRPERSELVRMHILEETSAEPSLQAKQLKLKRARLADDLNEKIAQRPGPMELVEKNILPVESSLKEAIIVGQVNYPKVADSSSFDEDSSDALSPEQPASHESQGSVPSPLEARVSEPLLSATSASPTQVVSQLPMGRDSREMLFLAEQPPLPPPPLLPPSLTNGTTIPTAKSTPTLIKQSQPKSASEKSQRSKKAKELKPKVKKLKYHQYIPPDQKQDRGAPPMDSSYAKILQQQQLFLQLQILNQQQQQHHNYQAILPAPPKSAGEALGSSGTPPVRSLSTTNSSSSSGAPGPCGLARQNSTSLTGKPGALPANLDDMKVAELKQELKLRSLPVSGTKTELIERLRAYQDQISPVPGAPKAPAATSILHKAGEVVVAFPAARLSTGPALVAAGLAPAEVVVATVASSGVVKFGSTGSTPPVSPTPSERSLLSTGDENSTPGDTFGEMVTSPLTQLTLQASPLQILVKEEGPRAGSCCLSPGGRAELEGRDKDQMLQEKDKQIEALTRMLRQKQQLVERLKLQLEQEKRAQQPAPAPAPLGTPVKQENSFSSCQLSQQPLGPAHPFNPSLAAPATNHIDPCAVAPGPPSVVVKQEALQPEPEPVPAPQLLLGPQGPSLIKGVAPPTLITDSTGTHLVLTVTNKNADSPGLSSGSPQQPSSQPGSPAPAPSAQMDLEHPLQPLFGTPTSLLKKEPPGYEEAMSQQPKQQENGSSSQQMDDLFDILIQSGEISADFKEPPSLPGKEKPSPKTVCGSPLAAQPSPSAELPQAAPPPPGSPSLPGRLEDFLESSTGLPLLTSGHDGPEPLSLIDDLHSQMLSSTAILDHPPSPMDTSELHFVPEPSSTMGLDLADGHLDSMDWLELSSGGPVLSLAPLSTTAPSLFSTDFLDGHDLQLHWDSCL
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving MRTFA may be a cause of acute megakaryoblastic leukemia. Translocation t(1;22)(p13;q13) with RBM15 (PubMed:11344311, PubMed:11431691). Although both reciprocal fusion transcripts are detected in acute megakaryoblastic leukemia (AMKL, FAB-M7), the RBM15-MRTFA chimeric protein has all the putative functional domains encoded by each gene and is the candidate oncogene (PubMed:11344311, PubMed:11431691). {ECO:0000269|PubMed:11344311, ECO:0000269|PubMed:11431691}.; DISEASE: Immunodeficiency 66 (IMD66) [MIM:618847]: An autosomal recessive primary immunologic disorder characterized by recurrent viral infections from infancy, associated with impaired neutrophil migration due to defects in cytoskeletal actin dynamics. {ECO:0000269|PubMed:26224645}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 complex activity responds to Rho GTPase-induced changes in cellular globular actin (G-actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics. MRTFA binds G-actin via its RPEL repeats, regulating activity of the MRTFA-SRF complex. Activity is also regulated by filamentous actin (F-actin) in the nucleus. {ECO:0000250|UniProtKB:Q8K4J6, ECO:0000269|PubMed:26224645}.
uniprot
proteins
mass_dalton
98919
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-6 by Erk inhibits binding of globular actin (G-actin), unmasking the nuclear localization signal (NLS) and promoting nuclear import. {ECO:0000250|UniProtKB:Q8K4J6}.
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
10718198
uniprot
proteins
pubmed
11344311
uniprot
proteins
pubmed
11431691
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
14565952
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19350017
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24440334
uniprot
proteins
pubmed
26224645
uniprot
proteins
sequence_length
931
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24440334}. Nucleus {ECO:0000269|PubMed:19350017, ECO:0000269|PubMed:24440334}. Note=Subcellular location is tightly regulated by actin both in cytoplasm and nucleus: high levels of G-actin in the nucleus observed during serum deprivation lead to low levels of nuclear MRTFA, while reduced levels of nuclear G-actin result in accumulation of MRTFA in the nucleus (By similarity). G-actin-binding in the cytoplasm inhibits nuclear import by masking the nuclear localization signal (NLS) (By similarity). In contrast, binding to nuclear globular actin (G-actin) promotes nuclear export to the cytoplasm (By similarity). Nuclear localization is regulated by MICAL2, which mediates depolymerization of nuclear actin, which decreases nuclear G-actin pool, thereby promoting retention of MRTFA in the nucleus and subsequent formation of an active complex with SRF (PubMed:24440334). Nuclear import is mediated by importins KPNA4 and KPNB1 (By similarity). {ECO:0000250|UniProtKB:Q8K4J6, ECO:0000269|PubMed:24440334}.
uniprot
proteins