LongevityMap Gene

Gene details

HGNC symbol
MKL1 
Aliases
MAL; BSAC; MRTF-A 
Common name
megakaryoblastic leukemia (translocation) 1 
Description
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]
Cytogenetic Location
22q13.1-q13.2
UCSC Genome Browser
View 22q13.1-q13.2 on the UCSC genome browser
OMIM
606078
Ensembl
ENSG00000196588
UniProt/Swiss-Prot
A4FUJ8_HUMAN
Entrez Gene
57591
UniGene
654688
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
mkl1b
Mus musculus
Mkl1
Rattus norvegicus
Mkl1

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
American (Caucasian)
Study Design
Genome-wide association study in 801 centenarians and 914 healthy controls
Conclusions
281 SNPs were found to discriminate between cases and controls
Indentifier
rs5758008
Reference