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emerin (EMD, EDMD, STA)
Function:
- mediates membrane anchorage to cytoskeleton
- interact with lamin A & lamin C
- binds to transcriptional repressor GCL
Structure: contains 1 LEM domain
Pathology:
- mutations associated with Emery-Dreifuss muscular dystrophy
Related
emd gene
Emery-Dreifuss muscular dystrophy
General
LEM domain-containing protein (LEMD)
membrane protein
nuclear protein
phosphoprotein
Properties
SIZE: MW = 29 kD
entity length = 254 aa
COMPARTMENT: cell nucleus
MOTIF: LEM domain {1-45}
Ser phosphorylation site {S49}
Tyr phosphorylation site {Y59}
Tyr phosphorylation site {Y74}
Tyr phosphorylation site {Y85}
Tyr phosphorylation site {Y95}
Tyr phosphorylation site {Y99}
Tyr phosphorylation site {Y105}
Ser phosphorylation site {S120}
Tyr phosphorylation site {Y161}
Ser phosphorylation site {S163}
Tyr phosphorylation site {Y167}
serine-rich region {192-199}
MOTIF: serine residue (SEVERAL)
transmembrane domain {223-243}
Database Correlations
OMIM correlations
MORBIDMAP 300384
UniProt P50402
Entrez Gene 2010
References
- UniProt :accession P50402
- EMD mutation database
http://www.dmd.nl/nmdb/index.php?select_db=EMD
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=EMD