Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3630
Gene Summary        Protein Summary        KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol INS   Gene   UCSC   Ensembl
Aliases IDDM, IDDM1, IDDM2, ILPR, IRDN, MODY10
Gene name insulin
Alternate names insulin, preproinsulin, proinsulin,
Gene location 11p15.5 (2161208: 2159778)     Exons: 3     NC_000011.10
Gene summary(Entrez) After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
OMIM 176730

Protein Summary

Protein general information P01308  

Name: Insulin [Cleaved into: Insulin B chain; Insulin A chain]

Length: 110  Mass: 11,981

Sequence MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAG
SLQPLALEGSLQKRGIVEQCCTSICSLYQLENYCN
Structural information
Interpro:  IPR004825 IPR016179 IPR036438 IPR022353 IPR022352
Prosite:   PS00262

Pfam:  
PF00049

PDB:  
1A7F 1AI0 1AIY 1B9E 1BEN 1EFE 1EV3 1EV6 1EVR 1FU2 1FUB 1G7A 1G7B 1GUJ 1HIQ 1HIS 1HIT 1HLS 1HTV 1HUI 1IOG 1IOH 1J73 1JCA 1JCO 1JK8 1K3M 1KMF 1LKQ 1LPH 1MHI 1MHJ 1MSO 1OS3 1OS4 1Q4V 1QIY 1QIZ 1QJ0 1RWE 1SF1 1SJT 1SJU 1T0C 1T1K 1T1P 1T1Q 1TRZ 1TYL 1TYM 1UZ9
PDBsum:   1A7F 1AI0 1AIY 1B9E 1BEN 1EFE 1EV3 1EV6 1EVR 1FU2 1FUB 1G7A 1G7B 1GUJ 1HIQ 1HIS 1HIT 1HLS 1HTV 1HUI 1IOG 1IOH 1J73 1JCA 1JCO 1JK8 1K3M 1KMF 1LKQ 1LPH 1MHI 1MHJ 1MSO 1OS3 1OS4 1Q4V 1QIY 1QIZ 1QJ0 1RWE 1SF1 1SJT 1SJU 1T0C 1T1K 1T1P 1T1Q 1TRZ 1TYL 1TYM 1UZ9

DIP:  
6024
MINT:  
STRING:   ENSP00000250971;
Other Databases GeneCards:  INS;  Malacards:  INS

Gene ontology


GO accessionTerm nameEvidence codeGo category

KEGG pathways

hsa04940  Type I diabetes mellitus
hsa04960  Aldosterone
hsa04066  HIF-1 signaling pathway
hsa04913  Ovarian steroidogenesis
hsa04015  Rap1 signaling pathway
hsa04213  Longevity regulating pathway
hsa04072  Phospholipase D signaling pathway
hsa04923  Regulation of lipolysis in adipocytes
hsa04150  mTOR signaling pathway
hsa04114  Oocyte meiosis
hsa04950  Maturity onset diabetes of the young
hsa04932  Non
hsa04068  FoxO signaling pathway
hsa04022  cGMP
hsa04914  Progesterone
hsa05215  Prostate cancer
hsa04911  Insulin secretion
hsa04152  AMPK signaling pathway
hsa04910  Insulin signaling pathway
hsa04140  Autophagy
hsa04930  Type II diabetes mellitus
hsa04810  Regulation of actin cytoskeleton
hsa04014  Ras signaling pathway
hsa04211  Longevity regulating pathway
hsa04010  MAPK signaling pathway
hsa04151  PI3K-Akt signaling pathway
hsa04931  Insulin resistance
hsa04917  Prolactin signaling pathway

Diseases

Associated diseases References
Type 1 diabetes mellitus KEGGH00408
Maturity onset diabetes of the young (MODY) KEGGH00410
Permanent neonatal diabetes mellitus KEGGH00512
Endometriosis PMID: 28475193

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
28475193 Endometrio
sis



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