Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Protein sel-1 homolog 1

The SEL1L gene encodes a protein involved in clearance of misfolded proteins in the cytoplasm. Evidence exists that it may play a role in inflammatory bowel disease.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Inflammatory bowel disease
Inflammatory bowel disease 13
ABCB1
SEL1L

References:

1.

Grant B et. al. (1996) The Caenorhabditis elegans sel-1 gene, a negative regulator of lin-12 and glp-1, encodes a predicted extracellular protein.

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2.

Grant B et. al. (1997) Structure, function, and expression of SEL-1, a negative regulator of LIN-12 and GLP-1 in C. elegans.

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3.

Biunno I et. al. (1997) Isolation of a pancreas-specific gene located on human chromosome 14q31: expression analysis in human pancreatic ductal carcinomas.

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4.

Donoviel DB et. al. (1999) SEL-1L maps to human chromosome 14, near the insulin-dependent diabetes mellitus locus 11.

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5.

Harada Y et. al. (1999) Complete cDNA sequence and genomic organization of a human pancreas-specific gene homologous to Caenorhabditis elegans sel-1.

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6.

Cattaneo M et. al. (2004) Identification of a region within SEL1L protein required for tumour growth inhibition.

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7.

Odom DT et. al. (2007) Tissue-specific transcriptional regulation has diverged significantly between human and mouse.

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8.

Kaneko M et. al. (2007) A different pathway in the endoplasmic reticulum stress-induced expression of human HRD1 and SEL1 genes.

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9.

Mueller B et. al. (2008) SEL1L nucleates a protein complex required for dislocation of misfolded glycoproteins.

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10.

Francisco AB et. al. (2011) Haploid insufficiency of suppressor enhancer Lin12 1-like (SEL1L) protein predisposes mice to high fat diet-induced hyperglycemia.

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11.

Hosokawa N et. al. (2016) Association of the SEL1L protein transmembrane domain with HRD1 ubiquitin ligase regulates ERAD-L.

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12.

Sun S et. al. (2016) Epithelial Sel1L is required for the maintenance of intestinal homeostasis.

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Update: Sept. 26, 2018