PDB ID 1GAG CHAIN A
Protein name INSULIN RECEPTOR, TYROSINE KINASE DOMAIN
Uniprot Accession P06213
The number of similar proteins 21
The number of binding states 5
The number of binding partners 4
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
1GAG (CHAIN: A)
1 Monomeric state
2 P06213  
3 Q14449  
4 Q9Z200   Q9Z200  
5 P06213   P18031  
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partners
  3
  2
  1
  0
Sequence information
1   VFPSSVFVPD   EWEVSREKIT   LLRELGQGSF   GMVYEGNARD   IIKGEAETRV   50
51   AVKTVNESAS   LRERIEFLNE   ASVMKGFTCH   HVVRLLGVVS   KGQPTLVVME   100
101   LMAHGDLKSY   LRSLRPEAEN   NPGRPPPTLQ   EMIQMAAEIA   DGMAYLNAKK   150
151   FVHRDLAARN   CMVAHDFTVK   IGDFGMTRDI   XETDXXRKGG   KGLLPVRWMA   200
201   PESLKDGVFT   TSSDMWSFGV   VLWEITSLAE   QPYQGLSNEQ   VLKFVMDGGY   250
251   LDQPDNCPER   VTDLMRMCWQ   FNPKMRPTFL   EIVNLLKDDL   HPSFPEVSFF   300
301   HSEENK           350
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
985_VAL MET VAR_004091 rs1799816 Polymorphism -
993_ARG GLN ClinVar
chr19:7125493
rs121913148 Pathogenic Insulin-resistant diabetes mellitus AND acanthosis nigricans [MedGen:C0342278,OMIM:610549,SNOMED CT:9859006]
996_ILE PHE VAR_015922 - Polymorphism -
1000_ARG TER ClinVar
chr19:7125473
rs121913144 Pathogenic Insulin-resistant diabetes mellitus AND acanthosis nigricans [MedGen:C0342278,OMIM:610549,SNOMED CT:9859006]; Pineal hyperplasia AND diabetes mellitus syndrome [MedGen:C0271695,OMIM:262190,Orphanet:ORPHA769,SNOMED CT:33559001]
1008_GLY VAL ClinVar
chr19:7125448
rs121913135 Pathogenic Insulin-resistant diabetes mellitus AND acanthosis nigricans [MedGen:C0342278,OMIM:610549,SNOMED CT:9859006]
1027_VAL MET VAR_079549 rs1135401741 Unclassified Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1028_ALA VAL VAR_015923 - Disease Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1038_LEU VAL VAR_041432 rs56395521 Polymorphism -
1048_ALA ASP VAR_004094 - Disease Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1068_LYS GLU VAR_015924 rs909008899 Polymorphism -
1092_ARG TRP VAR_015925 rs1229730671 Disease Leprechaunism (LEPRCH) [MIM:246200]
1116_ILE THR VAR_015926 - Disease Rabson-Mendenhall syndrome (RMS) [MIM:262190]
1131_ARG GLN VAR_015927 - Disease Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
1131_ARG TRP VAR_015928 rs111993466 Disease Rabson-Mendenhall syndrome (RMS) [MIM:262190]
1134_ALA THR ClinVar
chr19:7122673
rs121913139 Pathogenic Insulin resistance [Human Phenotype Ontology:HP:0000855,MedGen:C0021655]; Insulin-resistant diabetes mellitus AND acanthosis nigricans [MedGen:C0342278,OMIM:610549,SNOMED CT:9859006]
1135_ALA GLU ClinVar
chr19:7122669
rs121913154 Pathogenic Insulin-resistant diabetes mellitus AND acanthosis nigricans [MedGen:C0342278,OMIM:610549,SNOMED CT:9859006]
1153_MET ILE ClinVar
chr19:7120750
rs121913157 Pathogenic Insulin resistance [Human Phenotype Ontology:HP:0000855,MedGen:C0021655]
1164_ARG GLN ClinVar
chr19:7120718
rs121913150 Pathogenic Diabetes mellitus type 2 [Human Phenotype Ontology:HP:0005978,MedGen:C0011860,OMIM:125853,Orphanet:ORPHA181376,SNOMED CT:44054006]
1174_ARG GLN ClinVar
chr19:7120688
rs121913156 Pathogenic Hyperinsulinemic hypoglycemia familial 5 [MedGen:C1864952,OMIM:609968,Orphanet:ORPHA263458]; Insulin-resistant diabetes mellitus AND acanthosis nigricans [MedGen:C0342278,OMIM:610549,SNOMED CT:9859006]
1174_ARG TRP VAR_015930 - Disease Leprechaunism (LEPRCH) [MIM:246200]
1178_PRO LEU VAR_004099 rs1295645322 Disease Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1179_GLU ASP VAR_015931 - Disease Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1179_GLU LYS VAR_015932 - Disease Leprechaunism (LEPRCH) [MIM:246200]
1193_TRP LEU VAR_004100 rs52800171 Disease Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1200_TRP SER ClinVar
chr19:7119574
rs121913140 Pathogenic Insulin-resistant diabetes mellitus AND acanthosis nigricans [MedGen:C0342278,OMIM:610549,SNOMED CT:9859006]
1255_THR ALA VAR_041433 rs55875349 Polymorphism -