Endoplasmic reticulum membrane {Experimental EvidencePubMed:32614325}. Nucleus inner membrane; Multi-pass membrane protein. Note=Retained in the inner nuclear membrane through interaction with EMD and A- and B-lamins. The N- and C-termini are oriented towards the nucleoplasm. The majority of the hydrophilic domain resides in the endoplasmic reticulum lumen (By similarity). {By
Similarity}.
The nuclear envelope is a membrane system which surrounds the nucleoplasm of eukaryotic cells. It is composed of the nuclear lamina, nuclear pore complexes and two nuclear membranes. The space between the two membranes is called the nuclear intermembrane space.
The inner membrane of the nucleus is the membrane which separates the nuclear matrix from the intermembrane space. In mammals, the inner nuclear membrane is associated with heterochromatin and the nuclear lamina.
The membrane surrounding the nucleus. This term is used when it is not known if the protein is found in or associated with the inner or outer nuclear membrane.
May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). Plays a role in the modulation of innate immune signaling through the cGAS-STING pathway by interacting with RNF26 (PubMed:32614325). In addition, functions as a critical signaling component in mediating NF-kappa-B activation by acting downstream of EGFR and upstream of CARD10 (PubMed:27991920). {By
SimilarityUniProtKB:Q9DBS1, Experimental EvidencePubMed:27991920, Experimental EvidencePubMed:32614325}.
Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5) [MIM:604400]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {Experimental EvidencePubMed:18313022}. Note=The disease is caused by variants affecting the gene represented in this entry. Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302]: 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. {Experimental EvidencePubMed:21391237}. Note=The disease is caused by variants affecting the gene represented in this entry.
Transmembrane emp24 domain-containing protein 2 (COPI-coated vesicle membrane protein p24) (Membrane protein p24A) (Sid 394) (p24 family protein beta-1) (p24beta1)
Choline-phosphate cytidylyltransferase B (EC 2.7.7.15) (CCT-beta) (CTP:phosphocholine cytidylyltransferase B) (CCT B) (CT B) (Phosphorylcholine transferase B)
Protein YIPF3 (Killer lineage protein 1) (Natural killer cell-specific antigen KLIP1) (YIP1 family member 3) [Cleaved into: Protein YIPF3, 36 kDa form III]
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory