SEL1L, highly similar to the C elegans sel-1 gene, is a recently cloned human gene whose function is under investigation. SEL1L is differentially expressed in tumors and normal tissues and seems to play a role in tumor growth and aggressiveness. It may be an important negative regulator of the "notch" pathway which acts as a key regulator of the cellular proliferation and specification processes in both vertebrates and invertebrates. SEL1L may function in the protein degradation processes through the ubiquitin-proteosome system and perhaps in regulating important pathways such TGF-beta.
It is ubiquitously expressed only in fetal and neoplastic tissues. In normal adult tissues is highly expressed in the acini and in the alpha cells of the pancreas; in general it is highly represented in secretory cells such as plasma cells.
Function:
May play a role in Notch signaling. May be involved in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins.
Subunit:
Part of a complex containing SEL1L, SYVN1 and DERL2. May form a complex with ERLEC1, HSPA5, OS9, and SYVN1. Interacts with FOXRED2 and EDEM1.
Subcellular Location:
Endoplasmic reticulum membrane; Single-pass type I membrane protein.
Tissue Specificity:
Highly expressed in pancreas.
Post-translational modifications:
N-glycosylated.
Similarity:
Belongs to the sel-1 family.
Contains 1 fibronectin type-II domain.
Contains 11 Sel1-like repeats.
SWISS:
Q9UBV2
Gene ID:
1280
Database links:
Entrez Gene: 1280 Human
Entrez Gene: 20338 Mouse
Entrez Gene: 116488 Rat
Entrez Gene: 314352 Rat
Omim: 602329 Human
SwissProt: Q12916 Human
SwissProt: Q9UBV2 Human
SwissProt: Q9Z2G6 Mouse
SwissProt: Q80Z70 Rat
Unigene: 181300 Human
Unigene: 250605 Mouse
Unigene: 162892 Rat
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