PDB ID 1HOX     CHAIN A
Protein name PHOSPHOGLUCOSE ISOMERASE
Uniprot Accession Q9N1E2
The number of similar proteins 28
The number of binding states 2
The number of binding partners 1

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
1HOX (CHAIN: A)
1 Q9N1E2  
2 Monomeric state

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Only interaction residues
#binding
partners
  1
  0

Sequence information

1   MAALTRNPQF   QKLQQWHREH   GSELNLRHLF   DTDKERFNHF   SLTLNTNHGH   50
51   ILLDYSKNLV   TEEVMHMLLD   LAKSRGVEAA   RESMFNGEKI   NSTEDRAVLH   100
101   VALRNRSNTP   IVVDGKDVMP   EVNKVLDKMK   AFCQRVRSGD   WKGYTGKTIT   150
151   DVINIGIGGS   DLGPLMVTEA   LKPYSSGGPR   VWFVSNIDGT   HIAKTLACLN   200
201   PESSLFIIAS   KTFTTQETIT   NAKTAKDWFL   LSAKDPSTVA   KHFVALSTNT   250
251   AKVKEFGIDP   QNMFEFWDWV   GGRYSLWSAI   GLSIALHVGF   DNFEQLLSGA   300
301   HWMDQHFRTT   PLEKNAPVLL   AMLGIWYINC   FGCETQAVLP   YDQYLHRFAA   350
351   YFQQGDMESN   GKYITKSGAR   VDHQTGPIVW   GEPGTNGQHA   FYQLIHQGTK   400
401   MIPCDFLIPV   QTQHPIRKGL   HHKILLANFL   AQTEALMKGK   STEEARKELQ   450
451   AAGKSPEDLM   KLLPHKVFEG   NRPTNSIVFT   KLTPFILGAL   IAMYEHKIFV   500
501   QGVVWDINSF   DQWGVELGKQ   LAKKIEPELD   GSSPVTSHDS   STNGLINFIK   550
551   QQREAKIQ           600

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(> 0.0001)
Disease name
4_THR ILE ClinVar
chr19:34856185
rs267606852
Pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
5_ARG TRP 8.3kJPN
chr19:34856187
rs761450928
- 0.0016 -
19_HIS PRO ClinVar
chr19:34856230
rs137853586
Pathogenic - Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency [MedGen:C4016321]
19_HIS TYR 8.3kJPN
chr19:34856229
-
- 0.0001 -
31_ALA VAL 8.3kJPN
chr19:34856266
-
- 0.0001 -
44_ASN HIS 8.3kJPN
chr19:34857260
-
- 0.0001 -
47_HIS ARG 8.3kJPN
chr19:34857270
-
- 0.0001 -
76_VAL MET 8.3kJPN
chr19:34857703
rs201126335
- 0.0012 -
82_ARG GLN 8.3kJPN
chr19:34857722
rs777898740
- 0.0001 -
95_ARG TER ClinVar
chr19:34859491
rs781245249
Pathogenic - not provided|Hemolytic anemia due to glucophosphate isomerase deficiency [MedGen:C3661900|MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
100_VAL MET ClinVar
chr19:34859506
rs757341382
Pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
103_ARG TRP 8.3kJPN
chr19:34859515
-
- 0.0001 -
105_ARG GLN gnomAD
chr19:34859522
rs143827313
- 0.000377812 -
105_ARG GLN 8.3kJPN
chr19:34859522
rs143827313
- 0.0001 -
130_SER CYS 8.3kJPN
chr19:34859597
-
- 0.0004 -
134_ARG CYS 8.3kJPN
chr19:34868408
rs200500416
- 0.0006 -
158_GLY SER 8.3kJPN
chr19:34868480
rs137853582
- 0.0001 -
163_PRO LEU 8.3kJPN
chr19:34868644
-
- 0.0001 -
179_ARG PRO gnomAD
chr19:34868692
rs148548669
- 0.000298234 -
180_VAL ILE 8.3kJPN
chr19:34868694
rs750076196
- 0.0001 -
207_ILE THR gnomAD
chr19:34868776
rs8191371
- 0.0156344 -
207_ILE THR 8.3kJPN
chr19:34868776
rs8191371
- 0.0004 -
223_THR MET 8.3kJPN
chr19:34869876
rs61754634
- 0.0001 -
224_ALA SER 8.3kJPN
chr19:34869878
-
- 0.0001 -
226_GLU ASP gnomAD
chr19:34869886
rs573256848
- 0.000258482 -
252_VAL ALA 8.3kJPN
chr19:34872378
-
- 0.0001 -
262_MET ILE 8.3kJPN
chr19:34872409
-
- - -
272_ARG HIS ClinVar
chr19:34884166
-
Pathogenic - not provided [MedGen:C3661900]
272_ARG CYS 8.3kJPN
chr19:34884165
rs748408705
- 0.0001 -
293_GLU LYS gnomAD
chr19:34884647
rs560277140
- 0.000203035 -
297_SER LEU 8.3kJPN
chr19:34884660
rs763375030
- 0.0008 -
307_ARG HIS gnomAD
chr19:34884832
rs2230294
- 0.000199154 -
308_THR MET gnomAD
chr19:34884835
rs138381340
- 0.000167283 -
310_PRO ALA 8.3kJPN
chr19:34884840
-
- 0.0002 -
322_LEU MET 8.3kJPN
chr19:34884876
-
- 0.0001 -
328_ASN SER 8.3kJPN
chr19:34884895
-
- 0.0001 -
336_ALA THR ClinVar
chr19:34884918
rs1238884216
Pathogenic - not provided|Hemolytic anemia due to glucophosphate isomerase deficiency [MedGen:C3661900|MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
338_LEU PRO ClinVar
chr19:34884925
rs137853587
Pathogenic - Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency [MedGen:C4016321]
342_GLN ARG ClinVar
chr19:34884937
rs267606851
Pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
346_ARG HIS ClinVar
chr19:34884949
rs137853583
Pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
346_ARG CYS ClinVar
chr19:34884948
rs758132799
Pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency|not provided [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712|MedGen:C3661900]
371_ASP TYR 8.3kJPN
chr19:34887257
-
- 0.0001 -
374_THR ARG ClinVar
chr19:34887267
rs267606853
Pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
379_TRP TER ClinVar
chr19:34887283
-
Pathogenic - not provided [MedGen:C3661900]
379_TRP SER 8.3kJPN
chr19:34887282
-
- 0.0001 -
381_GLU TER ClinVar
chr19:34887287
rs2074944986
Pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
381_GLU LYS 8.3kJPN
chr19:34887287
-
- 0.0001 -
409_VAL ILE gnomAD
chr19:34887521
rs546774763
- 0.000234727 -
417_LYS ARG 8.3kJPN
chr19:34887546
-
- 0.0001 -
445_ARG TER ClinVar
chr19:34890178
rs774419705
Pathogenic/Likely pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
451_ALA VAL 8.3kJPN
chr19:34890197
rs199570323
- 0.0005 -
455_PRO ALA gnomAD
chr19:34890208
rs139853344
- 0.000672771 -
471_ARG CYS ClinVar
chr19:34890476
rs1364382189
Pathogenic - not provided|Hemolytic anemia due to glucophosphate isomerase deficiency [MedGen:C3661900|MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
471_ARG HIS ClinVar
chr19:34890477
-
Pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
499_VAL ILE gnomAD
chr19:34890647
rs552424309
- 0.000139172 -
531_SER GLY gnomAD
chr19:34890858
rs768287124
- 0.000103429 -
538_ASP ASN ClinVar
chr19:34890879
rs137853585
Pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency|not provided [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712|MedGen:C3661900]
549_LYS GLU ClinVar
chr19:34890912
rs933668811
Likely pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
553_GLU LYS 8.3kJPN
chr19:34890924
-
- 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.