| Gene Symbol |
EMD
|
| Entrez Gene |
2010
|
| Alt Symbol |
EDMD, LEMD5, STA
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
emerin
|
| Other Description |
LEM domain containing 5
|
| Swissprots |
Q6FI02 P50402
|
| Accessions |
AAA92645 BAA10972 CAA60500 EAW72742 EAW72743 P50402 AM393723 CAL38599 BC000738 AAH00738 BT007401 AAP36065 CR536536 CAG38773 CX781694 X82434 CAA57817 NM_000117 NP_000108
|
| Function |
Stabilizes and promotes the formation of a nuclear actin cortical network. Stimulates actin polymerization in vitro by binding and stabilizing the pointed end of growing filaments. Inhibits beta-catenin activity by preventing its accumulation in the nucleus. Acts by influencing the nuclear accumulation of beta- catenin through a CRM1-dependent export pathway. Links centrosomes to the nuclear envelope via a microtubule association. EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. The association of viral DNA with chromatin requires the presence of BAF and EMD. Required for proper localization of non-farnesylated prelamin-A/C. {ECO:0000269|PubMed:15328537, ECO:0000269|PubMed:16680152, ECO:0000269|PubMed:16858403, ECO:0000269|PubMed:17785515, ECO:0000269|PubMed:19323649}.
|
| Subcellular Location |
Nucleus inner membrane; Single-pass membrane protein; Nucleoplasmic side. Nucleus outer membrane. Note=Colocalized with BANF1 at the central region of the assembling nuclear rim, near spindle-attachment sites. The accumulation of different intermediates of prelamin-A/C (non- farnesylated or carboxymethylated farnesylated prelamin-A/C) in fibroblasts modify its localization in the nucleus.
|
| Tissue Specificity |
Skeletal muscle, heart, colon, testis, ovary and pancreas.
|
| Top Pathways |
Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy
|