PDB ID 3BU6     CHAIN A
Protein name insulin receptor subunit beta
Uniprot Accession P06213
The number of similar proteins 22
The number of binding states 4
The number of binding partners 4

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
3BU6 (CHAIN: A)
1 Monomeric state
2 Q14449  
3 Q9Z200   Q9Z200  
4 P06213   P18031  

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Only interaction residues
#binding
partners
  2
  1
  0

Sequence information

1   VFPSSVYVPD   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   FNPNMRPTFL   EIVNLLKDDL   HPSFPEVSFF   300
301   HSEENK           350

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(> 0.0001)
Disease name
988_GLU ALA 8.3kJPN
chr19:7125508
-
- 0.0001 -
993_ARG GLN VAR_004092 rs121913148
LP/P - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
993_ARG GLN ClinVar
chr19:7125493
rs121913148
Likely pathogenic - Insulin-resistant diabetes mellitus AND acanthosis nigricans|Rabson-Mendenhall syndrome [MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297|MONDO:MONDO:0009874,MedGen:C0271695,OMIM:262190,Orphanet:769]; Leprechaunism syndrome [MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508]; Hyperinsulinism due to INSR deficiency [MONDO:MONDO:0012381,MedGen:C1864952,OMIM:609968,Orphanet:263458]; Insulin-resistant diabetes mellitus AND acanthosis nigricans [MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297]
996_ILE PHE VAR_015922 -
LB/B - -
1000_ARG TER ClinVar
chr19:7125473
rs121913144
Pathogenic - Rabson-Mendenhall syndrome|Insulin-resistant diabetes mellitus AND acanthosis nigricans [MONDO:MONDO:0009874,MedGen:C0271695,OMIM:262190,Orphanet:769|MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297]
1000_ARG TER 8.3kJPN
chr19:7125473
rs121913144
- 0.0001 -
1008_GLY VAL VAR_004093 rs121913135
LP/P - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1008_GLY VAL ClinVar
chr19:7125448
rs121913135
Pathogenic - Insulin-resistant diabetes mellitus AND acanthosis nigricans [MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297]
1012_GLU ASP 8.3kJPN
chr15:99478141
-
- 0.0001 -
1021_ASP HIS 8.3kJPN
chr15:99478166
-
- 0.0001 -
1021_GLY ASP 8.3kJPN
chr19:7125409
rs200921389
- 0.0068 -
1026_ARG HIS 8.3kJPN
chr19:7125394
rs748109926
- 0.0001 -
1027_VAL MET VAR_079549 rs1135401741
US - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1028_ALA VAL VAR_015923 rs1599874183
LP/P - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1028_ALA VAL ClinVar
chr19:7125388
rs1599874183
Likely pathogenic - not provided [MedGen:C3661900]
1038_LEU VAL VAR_041432 rs56395521
LB/B - -
1038_LEU VAL gnomAD
chr19:7125359
rs56395521
- 0.000282673 -
1039_ARG GLN 8.3kJPN
chr19:7125355
rs372010924
- 0.0002 -
1041_ARG GLN 8.3kJPN
chr19:7125349
rs367827848
- 0.0001 -
1048_ALA ASP VAR_004094 -
LP/P - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1051_MET ILE ClinVar
chr15:99478258
rs1596468719
Likely pathogenic - Growth delay due to insulin-like growth factor I resistance [MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273]
1051_MET ILE ClinVar
chr19:7125318
rs2144813778
Likely pathogenic - not provided [MedGen:C3661900]
1055_ASN SER 8.3kJPN
chr15:99478269
rs780382569
- 0.0005 -
1061_ARG TER ClinVar
chr15:99478548
-
Pathogenic - not provided [MedGen:CN517202]
1068_LYS GLU VAR_015924 rs909008899
LB/B - -
1089_ARG CYS 8.3kJPN
chr19:7122913
rs749951195
- 0.0001 -
1092_ARG TRP VAR_015925 rs1229730671
LP/P - Leprechaunism (LEPRCH) [MIM:246200]
1101_ARG HIS 8.3kJPN
chr19:7122771
rs202160383
- 0.0001 -
1109_MET ILE gnomAD
chr19:7122746
rs776740574
- 0.000353916 -
1110_ILE VAL 8.3kJPN
chr15:99482469
-
- 0.0001 -
1113_ALA VAL 8.3kJPN
chr19:7122735
rs772334614
- 0.0001 -
1116_ILE THR VAR_015926 -
LP/P - Rabson-Mendenhall syndrome (RMS) [MIM:262190]
1124_ASN THR 8.3kJPN
chr15:99482512
-
- 0.0001 -
1131_ARG GLN VAR_015927 -
LP/P - Type 2 diabetes mellitus (T2D) [MIM:125853]
1131_ARG TRP VAR_015928 rs111993466
LP/P - Rabson-Mendenhall syndrome (RMS) [MIM:262190]
1134_ALA THR VAR_004095 rs121913139
LP/P - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1134_ALA THR ClinVar
chr19:7122673
rs121913139
Pathogenic - Insulin resistance|Insulin-resistant diabetes mellitus AND acanthosis nigricans [Human Phenotype Ontology:HP:0000855,MedGen:C0021655|MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297]
1135_ALA GLU VAR_004096 rs121913154
LP/P - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1135_ALA GLU ClinVar
chr19:7122669
rs121913154
Pathogenic - Insulin-resistant diabetes mellitus AND acanthosis nigricans [MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297]
1149_GLY ARG ClinVar
chr15:99482586
rs1596472892
Pathogenic/Likely pathogenic - Growth delay due to insulin-like growth factor I resistance|not provided [MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273|MedGen:CN517202]
1152_GLY ASP ClinVar
chr15:99486158
rs1596476061
Likely pathogenic - NK-cell enteropathy [MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665]
1153_MET ILE VAR_004097 rs121913157
LB/B - -
1164_ARG GLN VAR_004098 rs121913150
LP/P - Type 2 diabetes mellitus (T2D) [MIM:125853]
1164_ARG GLN ClinVar
chr19:7120718
rs121913150
Pathogenic - Type 2 diabetes mellitus [Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853]
1174_ARG GLN VAR_015929 rs121913156
LP/P - Hyperinsulinemic hypoglycemia, familial, 5 (HHF5) [MIM:609968]
1174_ARG TRP VAR_015930 rs1568426700
LP/P - Leprechaunism (LEPRCH) [MIM:246200]
1174_ARG GLN ClinVar
chr19:7120688
rs121913156
Pathogenic - Insulin-resistant diabetes mellitus AND acanthosis nigricans|Hyperinsulinism due to INSR deficiency|not provided [MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297|MONDO:MONDO:0012381,MedGen:C1864952,OMIM:609968,Orphanet:263458|MedGen:CN517202]
1174_ARG TRP ClinVar
chr19:7120689
rs1568426700
Pathogenic - Insulin resistance [Human Phenotype Ontology:HP:0000855,MedGen:C0021655]
1177_SER TYR ClinVar
chr15:99486233
rs1596476163
Likely pathogenic - Growth delay due to insulin-like growth factor I resistance [MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273]
1178_PRO LEU VAR_004099 rs1295645322
LP/P - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1179_GLU ASP VAR_015931 -
LP/P - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1179_GLU LYS VAR_015932 -
LP/P - Leprechaunism (LEPRCH) [MIM:246200]
1190_SER TRP ClinVar
chr15:99486272
-
Likely pathogenic - not provided [MedGen:C3661900]
1193_TRP LEU VAR_004100 rs52800171
LP/P - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1194_SER ALA 8.3kJPN
chr19:7119593
rs201979105
- 0.0004 -
1200_TRP SER VAR_004101 rs121913140
LP/P - 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 [MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297]
1203_THR SER 8.3kJPN
chr19:7119565
-
- 0.0001 -
1224_GLU TER ClinVar
chr15:99491894
-
Likely pathogenic - not provided [MedGen:CN517202]
1226_GLY SER 8.3kJPN
chr15:99491900
rs368518102
- 0.0003 -
1227_TYR ASP 8.3kJPN
chr19:7119494
-
- 0.0004 -
1231_PRO THR 8.3kJPN
chr15:99491915
rs751193576
- 0.0001 -
1243_ARG HIS 8.3kJPN
chr19:7117407
rs746000108
- 0.0004 -
1255_THR ALA VAR_041433 rs55875349
LB/B - -
1267_MET VAL 8.3kJPN
chr15:99500375
-
- 0.0001 -
1280_GLU LYS gnomAD
chr15:99500414
rs45526336
- 0.000103407 -
1280_GLU LYS 8.3kJPN
chr15:99500414
rs45526336
- 0.0001 -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.