PDB ID 1DGK     CHAIN N
Protein name HEXOKINASE TYPE I
Uniprot Accession P19367
The number of similar proteins 16
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
1DGK (CHAIN: N)
1 Monomeric state
2 P19367  

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Format:

Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   MIAAQLLAYY   FTELKDDQVK   KIDKYLYAMR   LSDETLIDIM   TRFRKEMKNG   50
51   LSRDFNPTAT   VKMLPTFVRS   IPDGSEKGDF   IALDLGGSSF   RILRVQVNHE   100
101   KNQNVHMESE   VYDTPENIVH   GSGSQLFDHV   AECLGDFMEK   RKIKDKKLPV   150
151   GFTFSFPCQQ   SKIDEAILIT   WTKRFKASGV   EGADVVKLLN   KAIKKRGDYD   200
201   ANIVAVVNDT   VGTMMTCGYD   DQHCEVGLII   GTGTNACYME   ELRHIDLVEG   250
251   DEGRMCINTE   WGAFGDDGSL   EDIRTEFDRA   IDAYSLNPGK   QLFEKMVSGM   300
301   YLGELVRLIL   VKMAKEGLLF   EGRITPELLT   RGKFNTSDVS   AIEKNKEGLH   350
351   NAKEILTRLG   VEPSDDDCVS   VQHVCTIVSF   RSANLVAATL   GAILNRLRDN   400
401   KGTPRLRTTV   GVDGSLYKTH   PQYSRRFHKT   LRRLVPDSDV   RFLLSESGSG   450
451   KGAAMVTAVA   YRLAEQHRQI   EETLAHFHLT   KDMLLEVKKR   MRAEMELGLR   500
501   KQTHNNAVVK   MLPSFVRRTP   DGTENGDFLA   LDLGGANFRV   LLVKIRSGKK   550
551   RTVEMHNKIY   AIPIEIMQGT   GEELFDHIVS   CISDFLDYMG   IKGPRMPLGF   600
601   TFSFPCQQTS   LDAGILITWT   KGFKATDCVG   HDVVTLLRDA   IKRREEFDLD   650
651   VVAVVNDTVG   TMMTCAYEEP   TCEVGLIVGT   GSNACYMEEM   KNVEMVEGDQ   700
701   GQMCINMEWG   AFGDNGCLDD   IRTHYDRLVD   EYSLNAGKQR   YEKMISGMYL   750
751   GEIVRNILID   FTKKGFLFRG   QISETLKTRG   IFETKFLSQI   ESDRLALLQV   800
801   RAILQQLGLN   STCDDSILVK   TVCGVVSRRA   AQLCGAGMAA   VVDKIRENRG   850
851   LDRLNVTVGV   DGTLYKLHPH   FSRIMHQTVK   ELSPKCNVSF   LLSEDGSGKG   900
901   AALITAVGVR   LRTEASS         950

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(> 0.0001)
Disease name
37_ILE VAL 8.3kJPN
chr10:71103628
-
- 0.0001 -
37_ILE THR 8.3kJPN
chr10:71103629
-
- 0.0001 -
42_ARG HIS 8.3kJPN
chr10:71103644
rs953252520
- 0.0001 -
44_ARG SER 8.3kJPN
chr10:71103651
-
- 0.0002 -
60_THR ALA 8.3kJPN
chr10:71103697
-
- 0.0001 -
94_ARG GLN ClinVar
chr10:71119707
rs1176654400
Pathogenic/Likely pathogenic - not provided|Hemolytic anemia due to hexokinase deficiency [MedGen:C3661900|MONDO:MONDO:0009340,MedGen:C3150343,OMIM:235700,Orphanet:90031]
95_VAL MET 8.3kJPN
chr10:71119709
rs1376894380
- 0.0001 -
135_GLY TER 8.3kJPN
chr10:71124566
-
- 0.0001 -
136_ASP ASN 8.3kJPN
chr10:71124569
-
- 0.0001 -
144_LYS THR 8.3kJPN
chr10:71124594
-
- 0.0001 -
177_ALA VAL gnomAD
chr10:71128326
rs776236276
- 0.000135202 -
266_ASP ASN ClinVar
chr10:71129301
rs1322472709
Likely pathogenic - Neurodevelopmental disorder with visual defects and brain anomalies [MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547]
286_LEU PRO 8.3kJPN
chr10:71129362
-
- 0.0001 -
331_ARG TER ClinVar
chr10:71136805
-
Pathogenic - Neurodevelopmental disorder with visual defects and brain anomalies|not provided [MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547|MedGen:C3661900]
358_ARG CYS gnomAD
chr10:71139658
rs147132442
- 0.000103392 -
369_VAL ILE gnomAD
chr10:71139691
rs143502069
- 0.000334001 -
377_ILE VAL 8.3kJPN
chr10:71139715
rs754185312
- 0.0001 -
381_ARG HIS 8.3kJPN
chr10:71139728
rs1490487177
- 0.0001 -
392_ALA THR 8.3kJPN
chr10:71139760
rs140290094
- 0.0001 -
399_ASP GLY 8.3kJPN
chr10:71139782
-
- 0.0001 -
405_ARG LYS 8.3kJPN
chr10:71139800
-
- 0.0001 -
414_GLY GLU VAR_083222 rs1064795154
LP/P - Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
414_GLY GLU ClinVar
chr10:71139827
rs1064795154
Likely pathogenic - not provided|Neurodevelopmental disorder with visual defects and brain anomalies [MedGen:CN517202|MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547]
414_GLY ARG ClinVar
chr10:71139826
rs2132871580
Likely pathogenic - not provided [MedGen:C3661900]
414_GLY ARG ClinVar
chr10:71139826
rs2132871580
Pathogenic/Likely pathogenic - Neurodevelopmental delay|not provided [Human Phenotype Ontology:HP:0012758,MedGen:C4022738|MedGen:C3661900]
418_LYS GLU VAR_083223 rs1564557037
LP/P - Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
418_LYS GLU ClinVar
chr10:71139838
rs1564557037
Likely pathogenic - Neurodevelopmental disorder with visual defects and brain anomalies|Neurodevelopmental abnormality|Charcot-Marie-Tooth disease type 4G [MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547|Human Phenotype Ontology:HP:0012759,MedGen:C4022737|MONDO:MONDO:0011534,MedGen:C1854449,OMIM:605285,Orphanet:99953]
425_ARG GLN 8.3kJPN
chr10:71142251
rs779828856
- 0.0001 -
441_ARG CYS 8.3kJPN
chr10:71142298
rs148472311
- 0.0001 -
445_SER LEU VAR_083224 rs1064794848
LP/P - Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
445_SER LEU ClinVar
chr10:71142311
rs1064794848
Pathogenic/Likely pathogenic - not provided|Neurodevelopmental disorder with visual defects and brain anomalies|Retinitis pigmentosa|Inborn genetic diseases|Hemolytic anemia due to hexokinase deficiency|Retinitis pigmentosa 79|Autism spectrum disorder [MedGen:C3661900|MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009340,MedGen:C3150343,OMIM:235700,Orphanet:90031|MONDO:MONDO:0044320,MedGen:C4479526,OMIM:617460|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106]
452_GLY ARG ClinVar
chr10:71142331
rs2132884703
Likely pathogenic - Hemolytic anemia due to hexokinase deficiency [MONDO:MONDO:0009340,MedGen:C3150343,OMIM:235700,Orphanet:90031]
457_THR MET VAR_083225 rs1057517928
LP/P - Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
457_THR LYS ClinVar
chr10:71142347
-
Likely pathogenic - Neurodevelopmental disorder with visual defects and brain anomalies [MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547]
468_ARG TRP 8.3kJPN
chr10:71142379
rs747689299
- 0.0001 -
478_HIS ARG gnomAD
chr10:71142410
rs144282713
- 0.000175426 -
478_HIS ARG 8.3kJPN
chr10:71142410
rs144282713
- 0.0001 -
503_THR MET 8.3kJPN
chr10:71142485
rs755620381
- 0.0001 -
517_ARG TRP gnomAD
chr10:71142526
rs568551856
- 0.000212717 -
517_ARG GLN 8.3kJPN
chr10:71142527
rs1202293213
- 0.0001 -
529_LEU SER VAR_009878 rs137853249
LP/P - Hexokinase deficiency (HK deficiency) [MIM:235700]
529_LEU SER ClinVar
chr10:71144104
rs137853249
Pathogenic - Hemolytic anemia due to hexokinase deficiency [MONDO:MONDO:0009340,MedGen:C3150343,OMIM:235700,Orphanet:90031]
546_ARG HIS 8.3kJPN
chr10:71144155
rs548019222
- 0.0001 -
552_THR MET 8.3kJPN
chr10:71144173
rs764684382
- 0.0001 -
609_THR MET 8.3kJPN
chr10:71144658
rs769433330
- 0.0001 -
613_ALA VAL 8.3kJPN
chr10:71144670
rs554507867
- 0.0001 -
617_ILE VAL 8.3kJPN
chr10:71146088
rs760127339
- 0.0002 -
631_HIS ASN 8.3kJPN
chr10:71146130
-
- 0.0001 -
640_ALA VAL 8.3kJPN
chr10:71146158
-
- 0.0001 -
680_THR SER VAR_023780 rs398122379
LP/P - Hexokinase deficiency (HK deficiency) [MIM:235700]
680_THR SER ClinVar
chr10:71151884
rs398122379
Pathogenic - Hemolytic anemia due to hexokinase deficiency [MONDO:MONDO:0009340,MedGen:C3150343,OMIM:235700,Orphanet:90031]
743_LYS ASN 8.3kJPN
chr10:71154715
-
- 0.0001 -
755_ARG HIS 8.3kJPN
chr10:71154750
rs1158871029
- 0.0001 -
760_ASP ASN 8.3kJPN
chr10:71154764
rs773954502
- 0.0001 -
776_LEU MET VAR_023781 rs1054203
LB/B - -
794_ARG TER ClinVar
chr10:71158355
rs2132973641
Pathogenic - not provided [MedGen:C3661900]
798_LEU PHE 8.3kJPN
chr10:71158367
-
- 0.0001 -
831_ALA THR 8.3kJPN
chr10:71158466
rs761196194
- 0.0001 -
847_GLU LYS VAR_078923 rs777849213
US - Retinitis pigmentosa 79 (RP79) [MIM:617460]
847_GLU LYS ClinVar
chr10:71158514
rs777849213
Pathogenic/Likely pathogenic - Retinitis pigmentosa 79|not provided|Retinal dystrophy|Retinal atrophy [MONDO:MONDO:0044320,MedGen:C4479526,OMIM:617460|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|Human Phenotype Ontology:HP:0001105,MedGen:C0521694]
853_ARG HIS 8.3kJPN
chr10:71158533
rs538768945
- 0.0001 -
889_SER PRO 8.3kJPN
chr10:71160802
-
- 0.0002 -
905_THR MET 8.3kJPN
chr10:71160851
rs748913554
- 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.