PDB ID 1I3K     CHAIN A
Protein name UDP-GLUCOSE 4-EPIMERASE
Uniprot Accession Q14376
The number of similar proteins 13
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
1I3K (CHAIN: A)
1 Q14376  
2 Monomeric state

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Format:

Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   MAEKVLVTGG   AGYIGSHTVL   ELLEAGYLPV   VIDNFHNAFR   GGGSLPESLR   50
51   RVQELTGRSV   EFEEMDILDQ   GALQRLFKKY   SFMAVIHFAG   LKAMGESVQK   100
101   PLDYYRVNLT   GTIQLLEIMK   AHGVKNLVFS   SSATVYGNPQ   YLPLDEAHPT   150
151   GGCTNPYGKS   KFFIEEMIRD   LCQADKTWNV   VLLRYFNPTG   AHASGCIGED   200
201   PQGIPNNLMP   YVSQVAIGRR   EALNVFGNDY   DTEDGTGVRD   YIHVVDLAKG   250
251   HIAALRKLKE   QCGCRIYNLG   TGTGYSVLQM   VQAMEKASGK   KIPYKVVARR   300
301   EGDVAACYAN   PSLAQEELGW   TAALGLDRMC   EDLWRWQKQN   PSGFGTQA   350

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(> 0.0001)
Disease name
25_ALA VAL VAR_037733 rs1431772923
LP/P - Galactosemia 3 (GALAC3) [MIM:230350]
27_TYR CYS 8.3kJPN
chr1:24125418
rs532648624
- 0.0001 -
34_ASN SER VAR_002539 rs121908046
LP/P - Galactosemia 3 (GALAC3) [MIM:230350]
40_ARG CYS VAR_037734 rs144492228
LP/P - Galactosemia 3 (GALAC3) [MIM:230350]
40_ARG CYS 8.3kJPN
chr1:24125380
rs144492228
- 0.0027 -
51_ARG GLN 8.3kJPN
chr1:24125190
rs758803977
- 0.0001 -
52_VAL GLY gnomAD
chr1:24125187
rs958522525
- 0.000119717 -
58_ARG CYS gnomAD
chr1:24125170
rs142821993
- 0.000135819 -
69_ASP GLU VAR_037735 rs1261697960
LP/P - Galactosemia 3 (GALAC3) [MIM:230350]
69_ASP GLU ClinVar
chr1:24125135
rs1261697960
Likely pathogenic - UDPglucose-4-epimerase deficiency [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238]
69_ASP GLU 8.3kJPN
chr1:24125135
rs1261697960
- 0.0002 -
75_ARG HIS 8.3kJPN
chr1:24125118
rs779150200
- 0.0001 -
89_ALA VAL gnomAD
chr1:24124692
rs201437329
- 0.000243103 -
90_GLY GLU VAR_002540 rs28940882
LP/P - Galactosemia 3 (GALAC3) [MIM:230350]
90_GLY GLU ClinVar
chr1:24124689
rs28940882
Pathogenic - UDPglucose-4-epimerase deficiency [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238]
90_GLY ARG 8.3kJPN
chr1:24124690
-
- 0.0001 -
94_VAL MET ClinVar
chr1:24124678
rs121908047
Pathogenic/Likely pathogenic - Galactose epimerase deficiency, severe|UDPglucose-4-epimerase deficiency|not provided|Inborn genetic diseases [MedGen:C4017048|MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238|MedGen:C3661900|MeSH:D030342,MedGen:C0950123]
103_ASP GLY VAR_002541 rs28940883
LP/P - Galactosemia 3 (GALAC3) [MIM:230350]
123_GLY ARG 8.3kJPN
chr1:24124346
rs372315186
- 0.0001 -
126_ASN ASP gnomAD
chr1:24124337
rs771656737
- 0.000246621 -
165_GLU LYS VAR_037736 rs528467258
LP/P - Galactosemia 3 (GALAC3) [MIM:230350]
169_ARG TRP VAR_037737 rs137853859
LP/P - Galactosemia 3 (GALAC3) [MIM:230350]
169_ARG TRP ClinVar
chr1:24124208
rs137853859
Pathogenic/Likely pathogenic - UDPglucose-4-epimerase deficiency|not provided|See cases [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238|MedGen:C3661900|]
169_ARG TRP 8.3kJPN
chr1:24124208
rs137853859
- 0.0003 -
173_GLN LYS 8.3kJPN
chr1:24124196
-
- 0.0001 -
178_TRP TER ClinVar
chr1:24123632
-
Pathogenic - UDPglucose-4-epimerase deficiency [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238]
183_LEU PRO VAR_002543 rs121908045
LP/P - Galactosemia 3 (GALAC3) [MIM:230350]
183_LEU PRO ClinVar
chr1:24123618
rs121908045
Pathogenic - UDPglucose-4-epimerase deficiency [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238]
185_TYR CYS 8.3kJPN
chr1:24123612
rs533469192
- 0.0001 -
204_ILE THR gnomAD
chr1:24123555
rs143924570
- 0.000111968 -
219_ARG TER ClinVar
chr1:24123420
-
Pathogenic - UDPglucose-4-epimerase deficiency [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238]
239_ARG TRP VAR_037738 rs137853860
LP/P - Galactosemia 3 (GALAC3) [MIM:230350]
239_ARG TRP ClinVar
chr1:24123267
rs137853860
Pathogenic/Likely pathogenic - UDPglucose-4-epimerase deficiency [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238]
239_ARG TRP 8.3kJPN
chr1:24123267
rs137853860
- 0.0001 -
245_VAL MET 8.3kJPN
chr1:24123249
rs145762332
- 0.0001 -
252_ILE THR 8.3kJPN
chr1:24123227
rs148834880
- 0.0001 -
257_LYS ARG VAR_002544 rs28940884
LP/P - Galactosemia 3 (GALAC3) [MIM:230350]
257_LYS ARG gnomAD
chr1:24123212
rs28940884
- 0.0014097 -
281_VAL ILE 8.3kJPN
chr1:24123031
rs1166093458
- 0.0001 -
300_ARG TRP 8.3kJPN
chr1:24122731
rs727503942
- 0.0002 -
302_GLY ASP VAR_037739 rs137853861
LP/P - Galactosemia 3 (GALAC3) [MIM:230350]
302_GLY ASP ClinVar
chr1:24122724
rs137853861
Likely pathogenic - UDPglucose-4-epimerase deficiency [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238]
302_GLY ASP 8.3kJPN
chr1:24122724
rs137853861
- 0.0007 -
308_TYR CYS gnomAD
chr1:24122706
rs780393850
- 0.000107457 -
313_LEU MET VAR_002545 rs3180383
LP/P - Galactosemia 3 (GALAC3) [MIM:230350]
313_LEU MET ClinVar
chr1:24122692
rs3180383
Pathogenic - UDPglucose-4-epimerase deficiency [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238]
319_GLY GLU VAR_002546 rs28940885
LP/P - Galactosemia 3 (GALAC3) [MIM:230350]
319_GLY GLU gnomAD
chr1:24122673
rs28940885
- 0.000354189 -
319_GLY ARG 8.3kJPN
chr1:24122674
-
- 0.0002 -
320_TRP GLY 8.3kJPN
chr1:24122671
-
- 0.0006 -
333_LEU ILE gnomAD
chr1:24122489
rs199614710
- 0.000175328 -
335_ARG HIS VAR_037740 rs368637540
LP/P - Galactosemia 3 (GALAC3) [MIM:230350]
335_ARG HIS ClinVar
chr1:24122482
-
Likely pathogenic - UDPglucose-4-epimerase deficiency|GALE-related condition [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238|]
335_ARG HIS 8.3kJPN
chr1:24122482
rs368637540
- 0.0002 -
346_THR MET 8.3kJPN
chr1:24122449
rs367879744
- 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.