RBCC Red Blood Cell Collection

EMD_HUMAN

Source: PM23856902
PM22954596
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: EMD , EDMD, STA
Protein names and data: EMD_HUMAN , Emerin Lenght: 254 a.a.
Mass: 28994 Da
fasta formatted sequence
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.
Disease: ( OMIM: 300384 310300 ) Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular 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.

Genetic variants

54 - 54 S -> F (in EDMD1; no loss of binding to F-actin, enhanced rate of actin polymerization and loss of binding to BCLAF1). VAR_005198
133 - 133 Q -> H (in EDMD1; loss of binding to F- actin). VAR_016016
149 - 149 D -> H (in dbSNP:rs2070818). VAR_038433 2070818
183 - 183 P -> H (in EDMD1; no loss of binding to F-actin and enhanced rate of actin polymerization). VAR_005199
183 - 183 P -> T (in EDMD1). VAR_005200

Database cross-references

UniProt: P50402
Ensembl: ENST00000369842
Ensembl: ENST00000594177
MIM: 300384
MIM: 310300
neXtProt: NX_P50402
Antibodypedia: P50402 (may not find the protein thus also not any antibody)
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