PiSITE

PDB ID	1GAG	CHAIN	A
Protein name	INSULIN RECEPTOR, TYROSINE KINASE DOMAIN
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
	1GAG (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

VFPSSVFVPD

EWEVSREKIT

LLRELGQGSF

GMVYEGNARD

IIKGEAETRV

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	Allele Frequency (> 0.0001)	AlphaMissense pathogenicity	Disease name
985_VAL	MET	VAR_004091 rs1799816	LB/B	-	0.1825	-
985_VAL	MET	gnomAD chr19:7125518 rs1799816	-	0.00841464	0.1825	-
985_VAL	MET	8.3kJPN chr19:7125518 rs1799816	-	0.0001	0.1825	-
988_GLU	ALA	8.3kJPN chr19:7125508 -	-	0.0001	0.3865	-
993_ARG	GLN	VAR_004092 rs121913148	LP/P	-	0.9257	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
993_ARG	GLN	ClinVar chr19:7125493 rs121913148	Likely pathogenic	-	0.9257	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	-	0.9192	-
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	-	0.9996	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1008_GLY	VAL	ClinVar chr19:7125448 rs121913135	Pathogenic	-	0.9996	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	0.8709	-
1021_ASP	HIS	8.3kJPN chr15:99478166 -	-	0.0001	-	-
1021_GLY	ASP	8.3kJPN chr19:7125409 rs200921389	-	0.0068	0.1517	-
1026_ARG	HIS	8.3kJPN chr19:7125394 rs748109926	-	0.0001	0.0848	-
1027_VAL	MET	VAR_079549 rs1135401741	US	-	0.9792	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1028_ALA	VAL	VAR_015923 rs1599874183	LP/P	-	0.9948	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1028_ALA	VAL	ClinVar chr19:7125388 rs1599874183	Likely pathogenic	-	0.9948	not provided [MedGen:C3661900]
1038_LEU	VAL	VAR_041432 rs56395521	LB/B	-	0.1535	-
1038_LEU	VAL	gnomAD chr19:7125359 rs56395521	-	0.000282673	0.1535	-
1039_ARG	GLN	8.3kJPN chr19:7125355 rs372010924	-	0.0002	0.2932	-
1041_ARG	GLN	8.3kJPN chr19:7125349 rs367827848	-	0.0001	0.5446	-
1048_ALA	ASP	VAR_004094 -	LP/P	-	0.9996	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1051_MET	ILE	ClinVar chr15:99478258 rs1596468719	Likely pathogenic	-	0.9995	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	-	0.9995	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	-	0.2927	-
1089_ARG	CYS	8.3kJPN chr19:7122913 rs749951195	-	0.0001	0.9868	-
1092_ARG	TRP	VAR_015925 rs1229730671	LP/P	-	0.9877	Leprechaunism (LEPRCH) [MIM:246200]
1101_ARG	HIS	8.3kJPN chr19:7122771 rs202160383	-	0.0001	0.0949	-
1109_MET	ILE	gnomAD chr19:7122746 rs776740574	-	0.000353916	0.4371	-
1110_ILE	VAL	8.3kJPN chr15:99482469 -	-	0.0001	0.0958	-
1113_ALA	VAL	8.3kJPN chr19:7122735 rs772334614	-	0.0001	0.4239	-
1116_ILE	THR	VAR_015926 -	LP/P	-	0.9769	Rabson-Mendenhall syndrome (RMS) [MIM:262190]
1124_ASN	THR	8.3kJPN chr15:99482512 -	-	0.0001	0.2284	-
1131_ARG	GLN	VAR_015927 -	LP/P	-	0.9981	Type 2 diabetes mellitus (T2D) [MIM:125853]
1131_ARG	TRP	VAR_015928 rs111993466	LP/P	-	0.9995	Rabson-Mendenhall syndrome (RMS) [MIM:262190]
1134_ALA	THR	VAR_004095 rs121913139	LP/P	-	0.9994	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1134_ALA	THR	ClinVar chr19:7122673 rs121913139	Pathogenic	-	0.9994	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	-	0.9997	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1135_ALA	GLU	ClinVar chr19:7122669 rs121913154	Pathogenic	-	0.9997	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	-	0.9997	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	-	0.9999	NK-cell enteropathy [MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665]
1153_MET	ILE	VAR_004097 rs121913157	LB/B	-	0.9994	-
1164_ARG	GLN	VAR_004098 rs121913150	LP/P	-	0.9669	Type 2 diabetes mellitus (T2D) [MIM:125853]
1164_ARG	GLN	ClinVar chr19:7120718 rs121913150	Pathogenic	-	0.9669	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	-	0.9993	Hyperinsulinemic hypoglycemia, familial, 5 (HHF5) [MIM:609968]
1174_ARG	TRP	VAR_015930 rs1568426700	LP/P	-	0.9996	Leprechaunism (LEPRCH) [MIM:246200]
1174_ARG	GLN	ClinVar chr19:7120688 rs121913156	Pathogenic	-	0.9993	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	-	0.9996	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	-	0.996	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1179_GLU	ASP	VAR_015931 -	LP/P	-	0.9946	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1179_GLU	LYS	VAR_015932 -	LP/P	-	0.9978	Leprechaunism (LEPRCH) [MIM:246200]
1190_SER	TRP	ClinVar chr15:99486272 -	Likely pathogenic	-	0.9997	not provided [MedGen:C3661900]
1193_TRP	LEU	VAR_004100 rs52800171	LP/P	-	0.9964	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1194_SER	ALA	8.3kJPN chr19:7119593 rs201979105	-	0.0004	0.7726	-
1200_TRP	SER	VAR_004101 rs121913140	LP/P	-	0.9956	Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
1200_TRP	SER	ClinVar chr19:7119574 rs121913140	Pathogenic	-	0.9956	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	0.1144	-
1224_GLU	TER	ClinVar chr15:99491894 -	Likely pathogenic	-	-	not provided [MedGen:CN517202]
1226_GLY	SER	8.3kJPN chr15:99491900 rs368518102	-	0.0003	0.3664	-
1227_TYR	ASP	8.3kJPN chr19:7119494 -	-	0.0004	0.4318	-
1231_PRO	THR	8.3kJPN chr15:99491915 rs751193576	-	0.0001	0.6347	-
1243_ARG	HIS	8.3kJPN chr19:7117407 rs746000108	-	0.0004	0.0725	-
1255_THR	ALA	VAR_041433 rs55875349	LB/B	-	0.0797	-
1267_MET	VAL	8.3kJPN chr15:99500375 -	-	0.0001	-	-
1280_GLU	LYS	gnomAD chr15:99500414 rs45526336	-	0.000103407	0.0895	-
1280_GLU	LYS	8.3kJPN chr15:99500414 rs45526336	-	0.0001	0.0895	-

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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

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Sequence information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Variants

Reference

	P06213	Insulin receptor
	P18031	Tyrosine-protein phosphatase, non-receptor type 1

	Q9Z200	adaptor protein APS
	Q9Z200	adaptor protein APS