preproinsulin receptor; IR; CD220; contains: insulin receptor subunit alpha, insulin receptor subunit beta (INSR)
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Function
- precursor for the insulin receptor
- isoform short has a higher affinity for insulin
- phosphorylation of Tyr-999 is required for IRS1- & SHC1- binding
Structure
- contains both insulin receptor alpha & insulin receptor beta
- after being transported from the endoplasmic reticulum to the Golgi apparatus, the single glycosylated precursor is further glycosylated & then cleaved, followed by its transport to the plasma membrane
- belongs to the protein kinase superfamily, Tyr protein kinase family, insulin receptor subfamily
- contains 2 fibronectin F3 modules
- contains 1 protein kinase domain
- sequences surrounding the phosphorylated NPXY motif contribute differentially to either IRS1 or SHC1 recognition
Compartment
membrane
Alternative splicing
Expression
- isoform long & isoform short are expressed in the peripheral nerve, kidney, liver, striated muscle, fibroblasts & skin
- isoform short is expressed also in the spleen & lymphoblasts
Pathology
- defects in INSR are the cause of
- insulin resistance
- Rabson-Mendenhall syndrome
- leprechaunism
- familial hyperinsulinemic hypoglycemia 5
- insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
- defects in INSR may be associated with diabetes mellitus type 2
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P06213.html
- ↑ Wikipedia; Note: insulin receptor entry http://en.wikipedia.org/wiki/insulin_receptor
- ↑ Kemp BE, Pearson RB. Protein kinase recognition sequence motifs. Trends Biochem Sci. 1990 Sep;15(9):342-6. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/2238044
- ↑ Seino S, Seino M, Nishi S, Bell GI. Structure of the human insulin receptor gene and characterization of its promoter. Proc Natl Acad Sci U S A. 1989 Jan;86(1):114-8. PMID: https://www.ncbi.nlm.nih.gov/pubmed/2911561
Database
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:3643
- OMIM: https://mirror.omim.org/entry/125853
- OMIM: https://mirror.omim.org/entry/147670
- OMIM: https://mirror.omim.org/entry/246200
- OMIM: https://mirror.omim.org/entry/262190
- OMIM: https://mirror.omim.org/entry/609968
- OMIM: https://mirror.omim.org/entry/610549
- UniProt: http://www.uniprot.org/uniprot/P06213.html