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Protein

UDP-glucose 4-epimerase

Gene

GALE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei88 – 881NAD; via carbonyl oxygen3 Publications
Binding sitei92 – 921NAD3 Publications
Active sitei157 – 1571Proton acceptor1 Publication3 Publications
Binding sitei161 – 1611NAD3 Publications
Binding sitei185 – 1851NAD1 Publication
Binding sitei239 – 2391Substrate3 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi12 – 143NAD3 Publications
Nucleotide bindingi33 – 375NAD3 Publications
Nucleotide bindingi66 – 672NAD3 Publications

GO - Molecular functioni

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

GO - Biological processi

  • galactose catabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Isomerase

Keywords - Biological processi

Carbohydrate metabolism, Galactose metabolism

Keywords - Ligandi

NAD

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-RKQ14376.
UniPathwayiUPA00214.

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

HGNCiHGNC:4116. GALE.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Epimerase-deficiency galactosemia (EDG)5 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251A → V in EDG. 1 Publication
VAR_037733
Natural varianti34 – 341N → S in EDG; peripheral; nearly normal activity towards UDP-galactose. 3 Publications
Corresponds to variant rs121908046 [ dbSNP | Ensembl ].
VAR_002539
Natural varianti40 – 401R → C in EDG. 1 Publication
Corresponds to variant rs144492228 [ dbSNP | Ensembl ].
VAR_037734
Natural varianti69 – 691D → E in EDG. 1 Publication
VAR_037735
Natural varianti90 – 901G → E in EDG; 800-fold decrease in UDP-galactose epimerization activity. 4 Publications
Corresponds to variant rs28940882 [ dbSNP | Ensembl ].
VAR_002540
Natural varianti94 – 941V → 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 Publications
Corresponds to variant rs121908047 [ dbSNP | Ensembl ].
VAR_010058
Natural varianti103 – 1031D → G in EDG; 7-fold decrease in UDP-galactose epimerization activity; very mild decrease in activity towards UDP-N-acetylgalactosamine. 4 Publications
Corresponds to variant rs28940883 [ dbSNP | Ensembl ].
VAR_002541
Natural varianti165 – 1651E → K in EDG. 1 Publication
Corresponds to variant rs528467258 [ dbSNP | Ensembl ].
VAR_037736
Natural varianti169 – 1691R → W in EDG. 1 Publication
Corresponds to variant rs137853859 [ dbSNP | Ensembl ].
VAR_037737
Natural varianti183 – 1831L → P in EDG; peripheral; 3-fold decrease in UDP-galactose epimerization activity. 3 Publications
Corresponds to variant rs121908045 [ dbSNP | Ensembl ].
VAR_002543
Natural varianti239 – 2391R → W in EDG. 1 Publication
Corresponds to variant rs137853860 [ dbSNP | Ensembl ].
VAR_037738
Natural varianti257 – 2571K → R in EDG; 7-fold decrease in UDP-galactose epimerization activity; does not affect affinity for UDP-galactose. 4 Publications
Corresponds to variant rs28940884 [ dbSNP | Ensembl ].
VAR_002544
Natural varianti302 – 3021G → D in EDG. 1 Publication
Corresponds to variant rs137853861 [ dbSNP | Ensembl ].
VAR_037739
Natural varianti313 – 3131L → M in EDG; 6-fold decrease in UDP-galactose epimerization activity; very mild decrease in activity towards UDP-N-acetylgalactosamine. 4 Publications
Corresponds to variant rs3180383 [ dbSNP | Ensembl ].
VAR_002545
Natural varianti319 – 3191G → E in EDG; nearly normal activity towards UDP-galactose; mild impairment under conditions of substrate limitation. 4 Publications
Corresponds to variant rs28940885 [ dbSNP | Ensembl ].
VAR_002546
Natural varianti335 – 3351R → H in EDG; 2-fold decrease in UDP-galactose epimerization activity. 3 Publications
Corresponds to variant rs368637540 [ dbSNP | Ensembl ].
VAR_037740

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi132 – 1321S → A: Loss of activity. 1 Publication
Mutagenesisi157 – 1571Y → F: Loss of activity. 1 Publication
Mutagenesisi307 – 3071C → Y: No effect on activity towards UDP-galactose. Loss of activity towards UDP-N-acetylgalactosamine. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiGALE.
MIMi230350. phenotype.
Orphaneti308473. Erythrocyte galactose epimerase deficiency.
308487. Generalized galactose epimerase deficiency.
PharmGKBiPA28531.

Chemistry

ChEMBLiCHEMBL5843.

Polymorphism and mutation databases

BioMutaiGALE.
DMDMi68056598.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 348348UDP-glucose 4-epimerasePRO_0000183189Add
BLAST

Proteomic databases

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

PTM databases

iPTMnetiQ14376.
PhosphoSiteiQ14376.
SwissPalmiQ14376.

Expressioni

Gene expression databases

BgeeiENSG00000117308.
CleanExiHS_GALE.
ExpressionAtlasiQ14376. baseline and differential.
GenevisibleiQ14376. HS.

Organism-specific databases

HPAiHPA007340.

Interactioni

Subunit structurei

Homodimer.2 Publications

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi108855. 21 interactions.
IntActiQ14376. 2 interactions.
MINTiMINT-5001272.
STRINGi9606.ENSP00000363621.

Chemistry

BindingDBiQ14376.

Structurei

Secondary structure

1
348
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi3 – 86Combined sources
Turni9 – 113Combined sources
Helixi13 – 2412Combined sources
Beta strandi29 – 335Combined sources
Beta strandi35 – 384Combined sources
Beta strandi42 – 465Combined sources
Helixi47 – 5610Combined sources
Beta strandi61 – 644Combined sources
Helixi70 – 7910Combined sources
Beta strandi82 – 876Combined sources
Helixi94 – 996Combined sources
Helixi101 – 12121Combined sources
Beta strandi126 – 1327Combined sources
Helixi133 – 1364Combined sources
Beta strandi140 – 1445Combined sources
Helixi156 – 17419Combined sources
Beta strandi179 – 1857Combined sources
Beta strandi187 – 1893Combined sources
Beta strandi195 – 1973Combined sources
Beta strandi202 – 2043Combined sources
Helixi208 – 2169Combined sources
Beta strandi219 – 2213Combined sources
Beta strandi223 – 2264Combined sources
Beta strandi230 – 2367Combined sources
Beta strandi241 – 2433Combined sources
Helixi244 – 25815Combined sources
Turni259 – 2613Combined sources
Beta strandi264 – 2696Combined sources
Helixi277 – 28812Combined sources
Beta strandi294 – 2974Combined sources
Beta strandi305 – 3073Combined sources
Helixi312 – 3165Combined sources
Helixi326 – 33914Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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. Positions 1-346.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ14376.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni132 – 1343Substrate binding1 Publication3 Publications
Regioni185 – 1873Substrate binding2 Publications
Regioni206 – 2083Substrate binding3 Publications
Regioni224 – 2263Substrate binding3 Publications
Regioni300 – 3034Substrate binding2 Publications

Sequence similaritiesi

Phylogenomic databases

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

Family and domain databases

Gene3Di3.40.50.720. 2 hits.
InterProiIPR005886. GalE.
IPR016040. NAD(P)-bd_dom.
IPR008089. Nuc_sugar_epim.
[Graphical view]
PfamiPF16363. GDP_Man_Dehyd. 1 hit.
[Graphical view]
PRINTSiPR01713. NUCEPIMERASE.
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

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

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti293 – 2931P → S in BAG51901 (PubMed:14702039).

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251A → V in EDG. 1 Publication
VAR_037733
Natural varianti34 – 341N → S in EDG; peripheral; nearly normal activity towards UDP-galactose. 3 Publications
Corresponds to variant rs121908046 [ dbSNP | Ensembl ].
VAR_002539
Natural varianti40 – 401R → C in EDG. 1 Publication
Corresponds to variant rs144492228 [ dbSNP | Ensembl ].
VAR_037734
Natural varianti69 – 691D → E in EDG. 1 Publication
VAR_037735
Natural varianti90 – 901G → E in EDG; 800-fold decrease in UDP-galactose epimerization activity. 4 Publications
Corresponds to variant rs28940882 [ dbSNP | Ensembl ].
VAR_002540
Natural varianti94 – 941V → 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 Publications
Corresponds to variant rs121908047 [ dbSNP | Ensembl ].
VAR_010058
Natural varianti103 – 1031D → G in EDG; 7-fold decrease in UDP-galactose epimerization activity; very mild decrease in activity towards UDP-N-acetylgalactosamine. 4 Publications
Corresponds to variant rs28940883 [ dbSNP | Ensembl ].
VAR_002541
Natural varianti165 – 1651E → K in EDG. 1 Publication
Corresponds to variant rs528467258 [ dbSNP | Ensembl ].
VAR_037736
Natural varianti169 – 1691R → W in EDG. 1 Publication
Corresponds to variant rs137853859 [ dbSNP | Ensembl ].
VAR_037737
Natural varianti180 – 1801A → V.2 Publications
Corresponds to variant rs3204468 [ dbSNP | Ensembl ].
VAR_002542
Natural varianti183 – 1831L → P in EDG; peripheral; 3-fold decrease in UDP-galactose epimerization activity. 3 Publications
Corresponds to variant rs121908045 [ dbSNP | Ensembl ].
VAR_002543
Natural varianti239 – 2391R → W in EDG. 1 Publication
Corresponds to variant rs137853860 [ dbSNP | Ensembl ].
VAR_037738
Natural varianti257 – 2571K → R in EDG; 7-fold decrease in UDP-galactose epimerization activity; does not affect affinity for UDP-galactose. 4 Publications
Corresponds to variant rs28940884 [ dbSNP | Ensembl ].
VAR_002544
Natural varianti302 – 3021G → D in EDG. 1 Publication
Corresponds to variant rs137853861 [ dbSNP | Ensembl ].
VAR_037739
Natural varianti313 – 3131L → M in EDG; 6-fold decrease in UDP-galactose epimerization activity; very mild decrease in activity towards UDP-N-acetylgalactosamine. 4 Publications
Corresponds to variant rs3180383 [ dbSNP | Ensembl ].
VAR_002545
Natural varianti319 – 3191G → E in EDG; nearly normal activity towards UDP-galactose; mild impairment under conditions of substrate limitation. 4 Publications
Corresponds to variant rs28940885 [ dbSNP | Ensembl ].
VAR_002546
Natural varianti335 – 3351R → H in EDG; 2-fold decrease in UDP-galactose epimerization activity. 3 Publications
Corresponds to variant rs368637540 [ dbSNP | Ensembl ].
VAR_037740

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7979MAEKV…RLFKK → MSPLQ in isoform 2. VSP_056822Add
BLAST

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. Translation: CAB40159.1.
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

Cross-referencesi

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. Translation: CAB40159.1.
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
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. Positions 1-346.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108855. 21 interactions.
IntActiQ14376. 2 interactions.
MINTiMINT-5001272.
STRINGi9606.ENSP00000363621.

Chemistry

BindingDBiQ14376.
ChEMBLiCHEMBL5843.

PTM databases

iPTMnetiQ14376.
PhosphoSiteiQ14376.
SwissPalmiQ14376.

Polymorphism and mutation databases

BioMutaiGALE.
DMDMi68056598.

Proteomic databases

EPDiQ14376.
PaxDbiQ14376.
PeptideAtlasiQ14376.
PRIDEiQ14376.
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.
GeneCardsiGALE.
GeneReviewsiGALE.
HGNCiHGNC:4116. GALE.
HPAiHPA007340.
MalaCardsiGALE.
MIMi230350. phenotype.
606953. gene.
neXtProtiNX_Q14376.
Orphaneti308473. Erythrocyte galactose epimerase deficiency.
308487. Generalized galactose epimerase deficiency.
PharmGKBiPA28531.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayiUPA00214.
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-RKQ14376.

Miscellaneous databases

EvolutionaryTraceiQ14376.
GenomeRNAii2582.
PROiQ14376.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000117308.
CleanExiHS_GALE.
ExpressionAtlasiQ14376. baseline and differential.
GenevisibleiQ14376. HS.

Family and domain databases

Gene3Di3.40.50.720. 2 hits.
InterProiIPR005886. GalE.
IPR016040. NAD(P)-bd_dom.
IPR008089. Nuc_sugar_epim.
[Graphical view]
PfamiPF16363. GDP_Man_Dehyd. 1 hit.
[Graphical view]
PRINTSiPR01713. NUCEPIMERASE.
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 historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 10, 2005
Last modified: September 7, 2016
This is version 173 of the entry and version 2 of the sequence. [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

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.