Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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

Related Diseases:

Inflammatory bowel disease
Crohn disease-associated growth failure
IL6
Inflammatory bowel disease 13
ABCB1
Inflammatory bowel disease 25
IL10RB
Inflammatory bowel disease 28
IL10RA
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.

external link
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.

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

NCBI article

NCBI 6400 external link
14.

OMIM.ORG article

Omim 602329 external link
15.

Wikipedia article

Wikipedia EN (SEL1L) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues