PDB ID 1GZU     CHAIN A
Protein name NICOTINAMIDE MONONUCLEOTIDE ADENYLYL TRANSFERASE
PDB 1GZU
The number of similar proteins 22
The number of binding states 3
The number of binding partners 1

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
1GZU (CHAIN: A)
1 1GZU   1GZU  
2 Monomeric state
3 Q9HAN9   Q9HAN9   Q9HAN9   Q9HAN9  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   RGSHHHHHHG   SENSEKTEVV   LLACGSFNPI   TNXHLRLFEL   AKDYXNGTGR   50
51   YTVVKGIISP   VGDAYKKKGL   IPAYHRVIXA   ELATKNSKWV   EVDTWESLQK   100
101   EWKETLKVLR   HHQEKLEASD   CDHQQNSPTL   ERPGRKRKWT   ETQDSSQKKS   150
151   LEPKTKAVPK   VKLLCGADLL   ESFAVPNLWK   SEDITQIVAN   YGLICVTRAG   200
201   NDAQKFIYES   DVLWKHRSNI   HVVNEWIAND   ISSTKIRRAL   RRGQSIRYLV   250
251   PDLVQEYIEK   HNLYSSESED   RNAGVILAPL   QRNTAEAKT     300

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
8_GLU ALA gnomAD
chr1:10032154 		rs61740429
- 0.000255061 -
9_VAL MET ClinVar
chr1:10032156 		rs387907294
Pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
13_ALA ASP ClinVar
chr1:10032169 		rs1641702737
Likely pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
13_ALA THR gnomAD
chr1:10032168 		rs138613460
- 0.000163276 -
18_ASN SER ClinVar
chr1:10032184 		rs748902766
Pathogenic/Likely pathogenic - not provided|Retinal dystrophy|Leber congenital amaurosis 9 [MedGen:C3661900|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
35_MET THR ClinVar
chr1:10032235 		rs1641704371
Likely pathogenic - Retinal dystrophy [Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862]
55_TYR TER ClinVar
chr1:10035699 		-
Pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
60_LEU ARG ClinVar
chr1:10035713 		rs1641789657
Likely pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
66_ARG TRP ClinVar
chr1:10035730 		rs763325435
Pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
66_ARG TRP 8.3kJPN
chr1:10035730 		rs763325435
- 0.0001 -
69_MET LEU ClinVar
chr1:10035739 		rs372066126
Likely pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
69_MET VAL ClinVar
chr1:10035739 		rs372066126
Pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
80_VAL MET ClinVar
chr1:10035772 		rs1641791811
Likely pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
82_VAL PHE ClinVar
chr1:10035778 		rs1641792104
Likely pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
82_VAL ALA ClinVar
chr1:10035779 		rs986437232
Likely pathogenic - Leber congenital amaurosis 9|Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65|MONDO:MONDO:0031007,MedGen:C5543257,OMIM:619260,Orphanet:611207]
85_TRP TER ClinVar
chr1:10035789 		rs2101701634
Pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
85_TRP TER ClinVar
chr1:10035788 		-
Pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
91_GLU LYS ClinVar
chr1:10035805 		rs1271498710
Pathogenic/Likely pathogenic - Cone dystrophy|Leber congenital amaurosis 9 [MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871|MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
98_VAL GLY ClinVar
chr1:10035827 		rs771336246
Pathogenic/Likely pathogenic - Retinal dystrophy|Leber congenital amaurosis 9|not provided|Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis [Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65|MedGen:C3661900|MONDO:MONDO:0031007,MedGen:C5543257,OMIM:619260,Orphanet:611207]
107_GLU TER ClinVar
chr1:10041108 		rs1641936336
Pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
147_ALA PRO ClinVar
chr1:10041228 		rs1570715470
Likely pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
151_VAL LEU 8.3kJPN
chr1:10042370 		-
- 0.0001 -
153_LEU VAL ClinVar
chr1:10042376 		rs387907293
Pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
153_LEU PRO ClinVar
chr1:10042377 		rs1641966303
Likely pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
156_GLY ARG ClinVar
chr1:10042385 		rs1244511644
Likely pathogenic - not provided [MedGen:C3661900]
162_SER TYR ClinVar
chr1:10042404 		rs1553128102
Likely pathogenic - Leber congenital amaurosis [MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65]
165_VAL ILE gnomAD
chr1:10042412 		rs202057799
- 0.000457435 -
167_ASN ILE ClinVar
chr1:10042419 		rs1405020783
Likely pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
167_ASN SER ClinVar
chr1:10042419 		rs1405020783
Pathogenic/Likely pathogenic - Leber congenital amaurosis 9|not provided [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65|MedGen:C3661900]
169_TRP TER ClinVar
chr1:10042426 		rs371526758
Pathogenic - Leber congenital amaurosis 9|not provided [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65|MedGen:C3661900]
173_ASP GLY ClinVar
chr1:10042437 		rs1641967500
Likely pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
178_VAL MET ClinVar
chr1:10042451 		rs757724544
Likely pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
178_VAL MET 8.3kJPN
chr1:10042451 		rs757724544
- 0.0001 -
188_ARG GLN 8.3kJPN
chr1:10042482 		rs767485367
- 0.0001 -
197_ILE VAL gnomAD
chr1:10042508 		rs145908106
- 0.000338058 -
197_ILE VAL 8.3kJPN
chr1:10042508 		rs145908106
- 0.0008 -
207_ARG TRP ClinVar
chr1:10042538 		rs142968179
Pathogenic - Leber congenital amaurosis 9|not provided [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65|MedGen:C3661900]
210_ILE THR ClinVar
chr1:10042548 		rs1641970512
Pathogenic - Leber congenital amaurosis [MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65]
210_ILE VAL 8.3kJPN
chr1:10042547 		-
- 0.0001 -
215_GLU TER ClinVar
chr1:10042562 		rs1345605596
Pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
216_TRP SER ClinVar
chr1:10042566 		rs771954272
Likely pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
216_TRP TER ClinVar
chr1:10042567 		-
Pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
217_ILE ASN ClinVar
chr1:10042569 		rs1641971124
Likely pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
218_ALA THR 8.3kJPN
chr1:10042571 		rs766479905
- 0.0001 -
237_ARG LEU ClinVar
chr1:10042629 		rs368062092
Pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
237_ARG CYS ClinVar
chr1:10042628 		rs375110174
Pathogenic/Likely pathogenic - Leber congenital amaurosis 9|Retinal dystrophy [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862]
237_ARG CYS 8.3kJPN
chr1:10042628 		rs375110174
- 0.0005 -
237_ARG HIS 8.3kJPN
chr1:10042629 		rs368062092
- 0.0001 -
239_LEU SER ClinVar
chr1:10042635 		rs778606847
Pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
239_LEU PHE ClinVar
chr1:10042636 		rs1641973290
Likely pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
241_PRO SER ClinVar
chr1:10042640 		-
Pathogenic - Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65]
246_GLU GLN ClinVar
chr1:10042655 		rs747653875
Likely pathogenic - Leber congenital amaurosis [MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65]
254_TYR CYS 8.3kJPN
chr1:10042680 		-
- 0.0002 -
255_SER ASN gnomAD
chr1:10042683 		rs138626416
- 0.000869018 -
255_SER ASN 8.3kJPN
chr1:10042683 		rs138626416
- 0.0227 -
257_GLU LYS ClinVar
chr1:10042688 		rs150726175
Pathogenic - Leber congenital amaurosis 9|not provided|Leber congenital amaurosis|7 conditions|Retinal dystrophy [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65|MedGen:C3661900|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|7 conditions|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862]
257_GLU LYS gnomAD
chr1:10042688 		rs150726175
- 0.000702158 -
259_GLU ASP 8.3kJPN
chr1:10042696 		-
- 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.