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Protein

UDP-glucose 4-epimerase

Gene

GALE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes two distinct but analogous reactions: the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6-phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP-GalNAc when exogenous sources are limited. Both UDP-sugar interconversions are important in the synthesis of glycoproteins and glycolipids.1 Publication1 Publication

Miscellaneous

Contrary to the human enzyme, the E.coli ortholog (AC P09147) does not catalyze the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. Compared to the E.coli enzyme, the sugar-binding pocket of the active site is 15% larger for the human enzyme, making it possible to accommodate the acetyl group.1 Publication

Catalytic activityi

UDP-alpha-D-glucose = UDP-alpha-D-galactose.1 Publication
UDP-N-acetyl-alpha-D-glucosamine = UDP-N-acetyl-alpha-D-galactosamine.1 Publication

Cofactori

NAD+2 Publications2 Publications

Kineticsi

  1. KM=69 µM for UDP-galactose (at 37 degrees Celsius and pH 8.8)2 Publications
  1. Vmax=1.22 mmol/min/mg enzyme with UDP-galactose as substrate2 Publications

Pathwayi: galactose metabolism

This protein is involved in the pathway galactose metabolism, which is part of Carbohydrate metabolism.
View all proteins of this organism that are known to be involved in the pathway galactose metabolism and in Carbohydrate metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei88NAD; via carbonyl oxygen3 Publications1
Binding sitei92NAD3 Publications1
Active sitei157Proton acceptor1 Publication3 Publications1
Binding sitei161NAD3 Publications1
Binding sitei185NAD1 Publication1
Binding sitei239Substrate3 Publications1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi12 – 14NAD3 Publications3
Nucleotide bindingi33 – 37NAD3 Publications5
Nucleotide bindingi66 – 67NAD3 Publications2

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • protein homodimerization activity Source: UniProtKB
  • UDP-glucose 4-epimerase activity Source: UniProtKB
  • UDP-N-acetylglucosamine 4-epimerase activity Source: UniProtKB-EC

GO - Biological processi

Keywordsi

Molecular functionIsomerase
Biological processCarbohydrate metabolism, Galactose metabolism
LigandNAD

Enzyme and pathway databases

BioCyciMetaCyc:HS04117-MONOMER
BRENDAi5.1.3.2 2681
ReactomeiR-HSA-5609977 Defective GALE can cause Epimerase-deficiency galactosemia (EDG)
R-HSA-70370 Galactose catabolism
SABIO-RKiQ14376
UniPathwayi
UPA00214

Names & Taxonomyi

Protein namesi
Recommended name:
UDP-glucose 4-epimerase1 Publication (EC:5.1.3.21 Publication)
Alternative name(s):
Galactowaldenase
UDP-N-acetylgalactosamine 4-epimerase1 Publication
Short name:
UDP-GalNAc 4-epimerase1 Publication
UDP-N-acetylglucosamine 4-epimerase1 Publication (EC:5.1.3.71 Publication)
Short name:
UDP-GlcNAc 4-epimerase1 Publication
UDP-galactose 4-epimerase1 Publication
Gene namesi
Name:GALEImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000117308.14
HGNCiHGNC:4116 GALE
MIMi606953 gene
neXtProtiNX_Q14376

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Epimerase-deficiency galactosemia (EDG)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionClinical features include early-onset cataracts, liver damage, deafness and mental retardation. There are two clinically distinct forms of EDG. (1) A benign, or 'peripheral' form with no detectable GALE activity in red blood cells and characterized by mild symptoms. Some patients may suffer no symptoms beyond raised levels of galactose-1-phosphate in the blood. (2) A much rarer 'generalized' form with undetectable levels of GALE activity in all tissues and resulting in severe features such as restricted growth and mental development.
See also OMIM:230350
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03773325A → V in EDG. 1 PublicationCorresponds to variant dbSNP:rs1431772923Ensembl.1
Natural variantiVAR_00253934N → S in EDG; peripheral; nearly normal activity towards UDP-galactose. 3 PublicationsCorresponds to variant dbSNP:rs121908046EnsemblClinVar.1
Natural variantiVAR_03773440R → C in EDG. 1 PublicationCorresponds to variant dbSNP:rs144492228Ensembl.1
Natural variantiVAR_03773569D → E in EDG. 1 PublicationCorresponds to variant dbSNP:rs1261697960Ensembl.1
Natural variantiVAR_00254090G → E in EDG; 800-fold decrease in UDP-galactose epimerization activity. 4 PublicationsCorresponds to variant dbSNP:rs28940882EnsemblClinVar.1
Natural variantiVAR_01005894V → M in EDG; generalized; 30-fold decrease in UDP-galactose epimerization activity; 2-fold decrease in affinity for UDP-galactose; 24% of normal activity with respect to UDP-N-acetylgalactosamine. 4 PublicationsCorresponds to variant dbSNP:rs121908047EnsemblClinVar.1
Natural variantiVAR_002541103D → G in EDG; 7-fold decrease in UDP-galactose epimerization activity; very mild decrease in activity towards UDP-N-acetylgalactosamine. 4 PublicationsCorresponds to variant dbSNP:rs28940883EnsemblClinVar.1
Natural variantiVAR_037736165E → K in EDG. 1 PublicationCorresponds to variant dbSNP:rs528467258Ensembl.1
Natural variantiVAR_037737169R → W in EDG. 1 PublicationCorresponds to variant dbSNP:rs137853859EnsemblClinVar.1
Natural variantiVAR_002543183L → P in EDG; peripheral; 3-fold decrease in UDP-galactose epimerization activity. 3 PublicationsCorresponds to variant dbSNP:rs121908045EnsemblClinVar.1
Natural variantiVAR_037738239R → W in EDG. 1 PublicationCorresponds to variant dbSNP:rs137853860EnsemblClinVar.1
Natural variantiVAR_002544257K → R in EDG; 7-fold decrease in UDP-galactose epimerization activity; does not affect affinity for UDP-galactose. 4 PublicationsCorresponds to variant dbSNP:rs28940884EnsemblClinVar.1
Natural variantiVAR_037739302G → D in EDG. 1 PublicationCorresponds to variant dbSNP:rs137853861EnsemblClinVar.1
Natural variantiVAR_002545313L → M in EDG; 6-fold decrease in UDP-galactose epimerization activity; very mild decrease in activity towards UDP-N-acetylgalactosamine. 4 PublicationsCorresponds to variant dbSNP:rs3180383EnsemblClinVar.1
Natural variantiVAR_002546319G → E in EDG; nearly normal activity towards UDP-galactose; mild impairment under conditions of substrate limitation. 4 PublicationsCorresponds to variant dbSNP:rs28940885EnsemblClinVar.1
Natural variantiVAR_037740335R → H in EDG; 2-fold decrease in UDP-galactose epimerization activity. 3 PublicationsCorresponds to variant dbSNP:rs368637540Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi132S → A: Loss of activity. 1 Publication1
Mutagenesisi157Y → F: Loss of activity. 1 Publication1
Mutagenesisi307C → Y: No effect on activity towards UDP-galactose. Loss of activity towards UDP-N-acetylgalactosamine. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2582
GeneReviewsiGALE
MalaCardsiGALE
MIMi230350 phenotype
OpenTargetsiENSG00000117308
Orphaneti308473 Erythrocyte galactose epimerase deficiency
308487 Generalized galactose epimerase deficiency
PharmGKBiPA28531

Chemistry databases

ChEMBLiCHEMBL5843
DrugBankiDB03501 Galactose-uridine-5'-diphosphate
DB03095 Tetramethylammonium Ion
DB01861 Uridine diphosphate glucose
DB02196 Uridine-Diphosphate-N-Acetylgalactosamine
DB03397 Uridine-Diphosphate-N-Acetylglucosamine

Polymorphism and mutation databases

BioMutaiGALE
DMDMi68056598

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001831891 – 348UDP-glucose 4-epimeraseAdd BLAST348

Proteomic databases

EPDiQ14376
PaxDbiQ14376
PeptideAtlasiQ14376
PRIDEiQ14376
ProteomicsDBi59972
TopDownProteomicsiQ14376-1 [Q14376-1]

PTM databases

iPTMnetiQ14376
PhosphoSitePlusiQ14376
SwissPalmiQ14376

Expressioni

Gene expression databases

BgeeiENSG00000117308 Expressed in 196 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_GALE
ExpressionAtlasiQ14376 baseline and differential
GenevisibleiQ14376 HS

Organism-specific databases

HPAiHPA007340

Interactioni

Subunit structurei

Homodimer.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself4EBI-750057,EBI-750057

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108855, 23 interactors
IntActiQ14376, 2 interactors
STRINGi9606.ENSP00000363621

Chemistry databases

BindingDBiQ14376

Structurei

Secondary structure

1348
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ14376
SMRiQ14376
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ14376

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni132 – 134Substrate binding1 Publication3 Publications3
Regioni185 – 187Substrate binding2 Publications3
Regioni206 – 208Substrate binding3 Publications3
Regioni224 – 226Substrate binding3 Publications3
Regioni300 – 303Substrate binding2 Publications4

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1371 Eukaryota
COG1087 LUCA
GeneTreeiENSGT00530000063128
HOGENOMiHOG000168001
HOVERGENiHBG001396
InParanoidiQ14376
KOiK01784
OMAiSCTVYGQ
OrthoDBiEOG091G0ACI
PhylomeDBiQ14376
TreeFamiTF105800

Family and domain databases

CDDicd05247 UDP_G4E_1_SDR_e, 1 hit
InterProiView protein in InterPro
IPR016040 NAD(P)-bd_dom
IPR036291 NAD(P)-bd_dom_sf
IPR005886 UDP_G4E
PfamiView protein in Pfam
PF16363 GDP_Man_Dehyd, 1 hit
SUPFAMiSSF51735 SSF51735, 1 hit
TIGRFAMsiTIGR01179 galE, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q14376-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAEKVLVTGG AGYIGSHTVL ELLEAGYLPV VIDNFHNAFR GGGSLPESLR
60 70 80 90 100
RVQELTGRSV EFEEMDILDQ GALQRLFKKY SFMAVIHFAG LKAVGESVQK
110 120 130 140 150
PLDYYRVNLT GTIQLLEIMK AHGVKNLVFS SSATVYGNPQ YLPLDEAHPT
160 170 180 190 200
GGCTNPYGKS KFFIEEMIRD LCQADKTWNA VLLRYFNPTG AHASGCIGED
210 220 230 240 250
PQGIPNNLMP YVSQVAIGRR EALNVFGNDY DTEDGTGVRD YIHVVDLAKG
260 270 280 290 300
HIAALRKLKE QCGCRIYNLG TGTGYSVLQM VQAMEKASGK KIPYKVVARR
310 320 330 340
EGDVAACYAN PSLAQEELGW TAALGLDRMC EDLWRWQKQN PSGFGTQA
Length:348
Mass (Da):38,282
Last modified:May 10, 2005 - v2
Checksum:i06FDBF9B1943DF49
GO
Isoform 2 (identifier: Q14376-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: MAEKVLVTGG...QGALQRLFKK → MSPLQ

Note: No experimental confirmation available.Curated
Show »
Length:274
Mass (Da):30,180
Checksum:i1410C9CCFBC96D9E
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5QPP3Q5QPP3_HUMAN
UDP-glucose 4-epimerase
GALE
227Annotation score:
Q5QPP4Q5QPP4_HUMAN
UDP-glucose 4-epimerase
GALE
239Annotation score:
Q5QPP1Q5QPP1_HUMAN
UDP-glucose 4-epimerase
GALE
194Annotation score:
Q5QPP9Q5QPP9_HUMAN
UDP-glucose 4-epimerase
GALE
108Annotation score:

Sequence cautioni

The sequence EAW95083 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence EAW95084 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence EAW95086 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence EAW95090 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence EAW95091 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence EAW95092 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence EAW95093 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti293P → S in BAG51901 (PubMed:14702039).1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03773325A → V in EDG. 1 PublicationCorresponds to variant dbSNP:rs1431772923Ensembl.1
Natural variantiVAR_00253934N → S in EDG; peripheral; nearly normal activity towards UDP-galactose. 3 PublicationsCorresponds to variant dbSNP:rs121908046EnsemblClinVar.1
Natural variantiVAR_03773440R → C in EDG. 1 PublicationCorresponds to variant dbSNP:rs144492228Ensembl.1
Natural variantiVAR_03773569D → E in EDG. 1 PublicationCorresponds to variant dbSNP:rs1261697960Ensembl.1
Natural variantiVAR_00254090G → E in EDG; 800-fold decrease in UDP-galactose epimerization activity. 4 PublicationsCorresponds to variant dbSNP:rs28940882EnsemblClinVar.1
Natural variantiVAR_01005894V → M in EDG; generalized; 30-fold decrease in UDP-galactose epimerization activity; 2-fold decrease in affinity for UDP-galactose; 24% of normal activity with respect to UDP-N-acetylgalactosamine. 4 PublicationsCorresponds to variant dbSNP:rs121908047EnsemblClinVar.1
Natural variantiVAR_002541103D → G in EDG; 7-fold decrease in UDP-galactose epimerization activity; very mild decrease in activity towards UDP-N-acetylgalactosamine. 4 PublicationsCorresponds to variant dbSNP:rs28940883EnsemblClinVar.1
Natural variantiVAR_037736165E → K in EDG. 1 PublicationCorresponds to variant dbSNP:rs528467258Ensembl.1
Natural variantiVAR_037737169R → W in EDG. 1 PublicationCorresponds to variant dbSNP:rs137853859EnsemblClinVar.1
Natural variantiVAR_002542180A → V2 PublicationsCorresponds to variant dbSNP:rs3204468Ensembl.1
Natural variantiVAR_002543183L → P in EDG; peripheral; 3-fold decrease in UDP-galactose epimerization activity. 3 PublicationsCorresponds to variant dbSNP:rs121908045EnsemblClinVar.1
Natural variantiVAR_037738239R → W in EDG. 1 PublicationCorresponds to variant dbSNP:rs137853860EnsemblClinVar.1
Natural variantiVAR_002544257K → R in EDG; 7-fold decrease in UDP-galactose epimerization activity; does not affect affinity for UDP-galactose. 4 PublicationsCorresponds to variant dbSNP:rs28940884EnsemblClinVar.1
Natural variantiVAR_037739302G → D in EDG. 1 PublicationCorresponds to variant dbSNP:rs137853861EnsemblClinVar.1
Natural variantiVAR_002545313L → M in EDG; 6-fold decrease in UDP-galactose epimerization activity; very mild decrease in activity towards UDP-N-acetylgalactosamine. 4 PublicationsCorresponds to variant dbSNP:rs3180383EnsemblClinVar.1
Natural variantiVAR_002546319G → E in EDG; nearly normal activity towards UDP-galactose; mild impairment under conditions of substrate limitation. 4 PublicationsCorresponds to variant dbSNP:rs28940885EnsemblClinVar.1
Natural variantiVAR_037740335R → H in EDG; 2-fold decrease in UDP-galactose epimerization activity. 3 PublicationsCorresponds to variant dbSNP:rs368637540Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0568221 – 79MAEKV…RLFKK → MSPLQ in isoform 2. Add BLAST79

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L41668 mRNA Translation: AAB86498.1
AF022382 Genomic DNA Translation: AAC39645.1
DQ233667 Genomic DNA Translation: ABB04109.1
DQ233668 mRNA Translation: ABB04110.1
AK057302 mRNA Translation: BAG51901.1
AK314397 mRNA Translation: BAG37021.1
AL031295 Genomic DNA No translation available.
CH471134 Genomic DNA Translation: EAW95083.1 Sequence problems.
CH471134 Genomic DNA Translation: EAW95084.1 Sequence problems.
CH471134 Genomic DNA Translation: EAW95086.1 Sequence problems.
CH471134 Genomic DNA Translation: EAW95090.1 Sequence problems.
CH471134 Genomic DNA Translation: EAW95091.1 Sequence problems.
CH471134 Genomic DNA Translation: EAW95092.1 Sequence problems.
CH471134 Genomic DNA Translation: EAW95093.1 Sequence problems.
BC001273 mRNA Translation: AAH01273.1
BC050685 mRNA Translation: AAH50685.2
CCDSiCCDS242.1 [Q14376-1]
RefSeqiNP_000394.2, NM_000403.3 [Q14376-1]
NP_001008217.1, NM_001008216.1 [Q14376-1]
NP_001121093.1, NM_001127621.1 [Q14376-1]
UniGeneiHs.632380

Genome annotation databases

EnsembliENST00000374497; ENSP00000363621; ENSG00000117308 [Q14376-1]
ENST00000617979; ENSP00000483375; ENSG00000117308 [Q14376-1]
GeneIDi2582
KEGGihsa:2582
UCSCiuc001bhv.2 human [Q14376-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Galactosemia Proteins Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L41668 mRNA Translation: AAB86498.1
AF022382 Genomic DNA Translation: AAC39645.1
DQ233667 Genomic DNA Translation: ABB04109.1
DQ233668 mRNA Translation: ABB04110.1
AK057302 mRNA Translation: BAG51901.1
AK314397 mRNA Translation: BAG37021.1
AL031295 Genomic DNA No translation available.
CH471134 Genomic DNA Translation: EAW95083.1 Sequence problems.
CH471134 Genomic DNA Translation: EAW95084.1 Sequence problems.
CH471134 Genomic DNA Translation: EAW95086.1 Sequence problems.
CH471134 Genomic DNA Translation: EAW95090.1 Sequence problems.
CH471134 Genomic DNA Translation: EAW95091.1 Sequence problems.
CH471134 Genomic DNA Translation: EAW95092.1 Sequence problems.
CH471134 Genomic DNA Translation: EAW95093.1 Sequence problems.
BC001273 mRNA Translation: AAH01273.1
BC050685 mRNA Translation: AAH50685.2
CCDSiCCDS242.1 [Q14376-1]
RefSeqiNP_000394.2, NM_000403.3 [Q14376-1]
NP_001008217.1, NM_001008216.1 [Q14376-1]
NP_001121093.1, NM_001127621.1 [Q14376-1]
UniGeneiHs.632380

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1EK5X-ray1.80A1-348[»]
1EK6X-ray1.50A/B1-348[»]
1HZJX-ray1.50A/B1-348[»]
1I3KX-ray1.50A/B1-348[»]
1I3LX-ray1.50A/B1-348[»]
1I3MX-ray1.50A/B1-348[»]
1I3NX-ray1.50A/B1-348[»]
ProteinModelPortaliQ14376
SMRiQ14376
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108855, 23 interactors
IntActiQ14376, 2 interactors
STRINGi9606.ENSP00000363621

Chemistry databases

BindingDBiQ14376
ChEMBLiCHEMBL5843
DrugBankiDB03501 Galactose-uridine-5'-diphosphate
DB03095 Tetramethylammonium Ion
DB01861 Uridine diphosphate glucose
DB02196 Uridine-Diphosphate-N-Acetylgalactosamine
DB03397 Uridine-Diphosphate-N-Acetylglucosamine

PTM databases

iPTMnetiQ14376
PhosphoSitePlusiQ14376
SwissPalmiQ14376

Polymorphism and mutation databases

BioMutaiGALE
DMDMi68056598

Proteomic databases

EPDiQ14376
PaxDbiQ14376
PeptideAtlasiQ14376
PRIDEiQ14376
ProteomicsDBi59972
TopDownProteomicsiQ14376-1 [Q14376-1]

Protocols and materials databases

DNASUi2582
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374497; ENSP00000363621; ENSG00000117308 [Q14376-1]
ENST00000617979; ENSP00000483375; ENSG00000117308 [Q14376-1]
GeneIDi2582
KEGGihsa:2582
UCSCiuc001bhv.2 human [Q14376-1]

Organism-specific databases

CTDi2582
DisGeNETi2582
EuPathDBiHostDB:ENSG00000117308.14
GeneCardsiGALE
GeneReviewsiGALE
HGNCiHGNC:4116 GALE
HPAiHPA007340
MalaCardsiGALE
MIMi230350 phenotype
606953 gene
neXtProtiNX_Q14376
OpenTargetsiENSG00000117308
Orphaneti308473 Erythrocyte galactose epimerase deficiency
308487 Generalized galactose epimerase deficiency
PharmGKBiPA28531
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1371 Eukaryota
COG1087 LUCA
GeneTreeiENSGT00530000063128
HOGENOMiHOG000168001
HOVERGENiHBG001396
InParanoidiQ14376
KOiK01784
OMAiSCTVYGQ
OrthoDBiEOG091G0ACI
PhylomeDBiQ14376
TreeFamiTF105800

Enzyme and pathway databases

UniPathwayi
UPA00214

BioCyciMetaCyc:HS04117-MONOMER
BRENDAi5.1.3.2 2681
ReactomeiR-HSA-5609977 Defective GALE can cause Epimerase-deficiency galactosemia (EDG)
R-HSA-70370 Galactose catabolism
SABIO-RKiQ14376

Miscellaneous databases

EvolutionaryTraceiQ14376
GenomeRNAii2582
PROiPR:Q14376
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000117308 Expressed in 196 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_GALE
ExpressionAtlasiQ14376 baseline and differential
GenevisibleiQ14376 HS

Family and domain databases

CDDicd05247 UDP_G4E_1_SDR_e, 1 hit
InterProiView protein in InterPro
IPR016040 NAD(P)-bd_dom
IPR036291 NAD(P)-bd_dom_sf
IPR005886 UDP_G4E
PfamiView protein in Pfam
PF16363 GDP_Man_Dehyd, 1 hit
SUPFAMiSSF51735 SSF51735, 1 hit
TIGRFAMsiTIGR01179 galE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGALE_HUMAN
AccessioniPrimary (citable) accession number: Q14376
Secondary accession number(s): A0A024RAH5
, B3KQ39, Q38G75, Q86W41, Q9BVE3, Q9UJB4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 10, 2005
Last modified: November 7, 2018
This is version 193 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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