This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Function:
Protein-lysine N-methyltransferase that specifically monomethylates 'Lys-310' of the RELA subunit of NF-kappa-B complex, leading to down-regulate NF-kappa-B transcription factor activity.
Subcellular Location:
Cell membrane. Endoplasmic reticulum membrane. Detected on cell surface of lung-cancer.
Post-translational modifications:
O-glycosylated with core 1 or possibly core 8 glycans.
Similarity:
Belongs to the SEZ6 family.
Contains 3 CUB domains.
Contains 5 Sushi (CCP/SCR) domains.
SWISS:
Q6UXD5
Gene ID:
26470
Database links:
Entrez Gene: 26470 Human
SwissProt: Q29RN8 Cow
SwissProt: Q6UXD5 Human
SwissProt: Q6AX42 Xenopus laevis
Unigene: 6314 Human
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