PDB ID 3W11     CHAIN E
Protein name Insulin receptor domains L1-CR
Uniprot Accession P06213
The number of similar proteins 7
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
3W11 (CHAIN: E)
1 4OGA   4OGA   P01308  
2 Monomeric state
3 P05019  
4 5J3H   5J3H  

Downdload

Format:

Molecule viewer

#binding
partners
  3
  2
  1
  0

Sequence information

1   HLYPGEVCPG   MDIRNNLTRL   HELENCSVIE   GHLQILLMFK   TRPEDFRDLS   50
51   FPKLIMITDY   LLLFRVYGLE   SLKDLFPNLT   VIRGSRLFFN   YALVIFEMVH   100
101   LKELGLYNLM   NITRGSVRIE   KNNELCYLAT   IDWSRILDSV   EDNHIVLNKD   150
151   DNEECGDICP   GTAKGKTNCP   ATVINGQFVE   RCWTHSHCQK   VCPTICKSHG   200
201   CTAEGLCCHS   ECLGNCSQPD   DPTKCVACRN   FYLDGRCVET   CPPPYYHFQD   250
251   WRCVNFSFCQ   DLHHKCKNSR   RQGCHQYVIH   NNKCIPECPS   GYTMNSSNLL   300
301   CTPCLGPCPK           350

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(4.7kJPN)
Disease name
15_ASN LYS VAR_004079 rs121913143
Disease - Rabson-Mendenhall syndrome (RMS) [MIM:262190]
15_ASN LYS ClinVar
chr19:7267882
rs121913143
Pathogenic - Pineal hyperplasia AND diabetes mellitus syndrome [MedGen:C0271695,OMIM:262190,Orphanet:ORPHA769,SNOMED CT:33559001]
28_VAL ALA VAR_004080 rs121913152
Disease - Leprechaunism (LEPRCH) [MIM:246200]
28_VAL ALA ClinVar
chr19:7267844
rs121913152
Pathogenic - Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005]
29_ILE THR VAR_079535 -
Disease - Leprechaunism (LEPRCH) [MIM:246200]
29_ILE THR ClinVar
chr19:7267841
rs1555689937
Pathogenic - Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005]
31_GLY ARG VAR_004081 rs52836744
Disease - Leprechaunism (LEPRCH) [MIM:246200]
31_GLY ARG ClinVar
chr19:7267836
rs52836744
Pathogenic - Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005]
59_ASP GLY VAR_015907 -
Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
62_LEU PRO VAR_015908 -
Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
65_ARG TRP 4.7kJPN
chr19:7267734
-
- 0.0001 -
86_ARG PRO VAR_004082 rs121913153
Disease - Leprechaunism (LEPRCH) [MIM:246200]
86_ARG PRO ClinVar
chr19:7267670
rs121913153
Pathogenic - Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005]
92_ALA VAL VAR_015909 rs1347473020
Disease - Leprechaunism (LEPRCH) [MIM:246200]
93_LEU GLN VAR_031518 -
Disease - Leprechaunism (LEPRCH) [MIM:246200]
105_GLY SER ClinVar
chr19:7267614
rs886037750
Pathogenic - Pineal hyperplasia AND diabetes mellitus syndrome [MedGen:C0271695,OMIM:262190,Orphanet:ORPHA769,SNOMED CT:33559001]
118_ARG SER 4.7kJPN
chr19:7267575
-
- 0.0002 -
119_ILE MET VAR_015539 rs121913159
Disease - Leprechaunism (LEPRCH) [MIM:246200]
119_ILE MET ClinVar
chr19:7267570
rs121913159
Pathogenic - Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005]
121_LYS TER ClinVar
chr19:7267566
rs121913155
Pathogenic - Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005]
133_TRP TER ClinVar
chr19:7267529
rs121913146
Pathogenic - Insulin-resistant diabetes mellitus AND acanthosis nigricans [MedGen:C0342278,OMIM:610549,SNOMED CT:9859006]
140_VAL LEU VAR_015910 rs938519025
Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
193_PRO LEU VAR_004083 rs749094324
Polymorphism - -
201_CYS ARG VAR_041429 -
Unclassified - A gastric adenocarcinoma sample
209_HIS ARG VAR_004084 rs121913145
Disease - Leprechaunism (LEPRCH) [MIM:246200]
209_HIS ARG ClinVar
chr19:7184594
rs121913145
Pathogenic - Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005]
213_LEU PRO 4.7kJPN
chr19:7184582
-
- 0.0001 -
229_ARG CYS VAR_079536 rs781007453
Disease - Rabson-Mendenhall syndrome (RMS) [MIM:262190]
229_ARG CYS 4.7kJPN
chr19:7184535
rs781007453
- 0.0002 -
233_LEU PRO VAR_004085 rs121913141
Disease - Leprechaunism (LEPRCH) [MIM:246200]
233_LEU PRO ClinVar
chr19:7184522
rs121913141
Pathogenic - Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005]
242_PRO LEU 4.7kJPN
chr19:7184495
rs1448475843
- 0.0001 -
244_PRO LEU 4.7kJPN
chr19:7184489
rs200199169
- 0.0001 -
244_PRO SER 4.7kJPN
chr19:7184490
rs537134904
- 0.0001 -
252_ARG CYS VAR_015540 -
Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
252_ARG HIS VAR_031519 rs1329693158
Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
253_CYS TYR VAR_015911 -
Disease - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
259_CYS TYR VAR_079537 -
Disease - Leprechaunism (LEPRCH) [MIM:246200]
259_CYS SER 4.7kJPN
chr19:7184444
-
- 0.0001 -
299_LEU PHE 4.7kJPN
chr19:7174739
-
- 0.0001 -
307_PRO LEU 4.7kJPN
chr19:7174716
rs373995681
- 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.