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Entry version 201 (16 Oct 2019)
Sequence version 2 (10 May 2005)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

NAD+2 Publications2 Publications

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei88NAD; via carbonyl oxygen3 Publications1
Binding sitei92NAD3 Publications1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei157Proton acceptor1 Publication3 Publications1
Binding sitei161NAD3 Publications1
Binding sitei185NAD1 Publication1
Binding sitei239Substrate3 Publications1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi12 – 14NAD3 Publications3
Nucleotide bindingi33 – 37NAD3 Publications5
Nucleotide bindingi66 – 67NAD3 Publications2

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIsomerase
Biological processCarbohydrate metabolism, Galactose metabolism
LigandNAD

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS04117-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
5.1.3.2 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5609977 Defective GALE can cause Epimerase-deficiency galactosemia (EDG)
R-HSA-70370 Galactose catabolism

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q14376

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00214

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GALEImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4116 GALE

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606953 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14376

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
2582

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
GALE

MalaCards human disease database

More...
MalaCardsi
GALE
MIMi230350 phenotype

Open Targets

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OpenTargetsi
ENSG00000117308

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
308473 Erythrocyte galactose epimerase deficiency
308487 Generalized galactose epimerase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28531

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q14376

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5843

Drug and drug target database

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DrugBanki
DB03501 Galactose-uridine-5'-diphosphate
DB03095 Tetramethylammonium Ion
DB03041 UDP-alpha-D-glucuronic acid
DB01861 Uridine diphosphate glucose
DB02196 Uridine-Diphosphate-N-Acetylgalactosamine
DB03397 Uridine-Diphosphate-N-Acetylglucosamine

DrugCentral

More...
DrugCentrali
Q14376

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GALE

Domain mapping of disease mutations (DMDM)

More...
DMDMi
68056598

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001831891 – 348UDP-glucose 4-epimeraseAdd BLAST348

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q14376

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q14376

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q14376

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q14376

PeptideAtlas

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PeptideAtlasi
Q14376

PRoteomics IDEntifications database

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PRIDEi
Q14376

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
59972 [Q14376-1]

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q14376-1 [Q14376-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q14376

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q14376

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q14376

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000117308 Expressed in 196 organ(s), highest expression level in lower esophagus mucosa

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q14376 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q14376 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA007340

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108855, 28 interactors

Protein interaction database and analysis system

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IntActi
Q14376, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000483375

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q14376

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q14376

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q14376

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni132 – 134Substrate binding1 Publication3 Publications3
Regioni185 – 187Substrate binding2 Publications3
Regioni206 – 208Substrate binding3 Publications3
Regioni224 – 226Substrate binding3 Publications3
Regioni300 – 303Substrate binding2 Publications4

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1371 Eukaryota
COG1087 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158000

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000168001

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q14376

KEGG Orthology (KO)

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KOi
K01784

Identification of Orthologs from Complete Genome Data

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OMAi
GEHLICN

Database of Orthologous Groups

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OrthoDBi
662484at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q14376

TreeFam database of animal gene trees

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TreeFami
TF105800

Family and domain databases

Conserved Domains Database

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CDDi
cd05247 UDP_G4E_1_SDR_e, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR016040 NAD(P)-bd_dom
IPR036291 NAD(P)-bd_dom_sf
IPR005886 UDP_G4E

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF16363 GDP_Man_Dehyd, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF51735 SSF51735, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR01179 galE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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
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Length:274
Mass (Da):30,180
Checksum:i1410C9CCFBC96D9E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5QPP4Q5QPP4_HUMAN
UDP-glucose 4-epimerase
GALE
239Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5QPP1Q5QPP1_HUMAN
UDP-glucose 4-epimerase
GALE
194Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5QPP9Q5QPP9_HUMAN
UDP-glucose 4-epimerase
GALE
108Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0568221 – 79MAEKV…RLFKK → MSPLQ in isoform 2. Add BLAST79

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS242.1 [Q14376-1]

NCBI Reference Sequences

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RefSeqi
NP_000394.2, NM_000403.3 [Q14376-1]
NP_001008217.1, NM_001008216.1 [Q14376-1]
NP_001121093.1, NM_001127621.1 [Q14376-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000374497; ENSP00000363621; ENSG00000117308 [Q14376-1]
ENST00000617979; ENSP00000483375; ENSG00000117308 [Q14376-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2582

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2582

UCSC genome browser

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UCSCi
uc001bhv.2 human [Q14376-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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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[»]
SMRiQ14376
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi108855, 28 interactors
IntActiQ14376, 2 interactors
STRINGi9606.ENSP00000483375

Chemistry databases

BindingDBiQ14376
ChEMBLiCHEMBL5843
DrugBankiDB03501 Galactose-uridine-5'-diphosphate
DB03095 Tetramethylammonium Ion
DB03041 UDP-alpha-D-glucuronic acid
DB01861 Uridine diphosphate glucose
DB02196 Uridine-Diphosphate-N-Acetylgalactosamine
DB03397 Uridine-Diphosphate-N-Acetylglucosamine
DrugCentraliQ14376

PTM databases

iPTMnetiQ14376
PhosphoSitePlusiQ14376
SwissPalmiQ14376

Polymorphism and mutation databases

BioMutaiGALE
DMDMi68056598

Proteomic databases

EPDiQ14376
jPOSTiQ14376
MassIVEiQ14376
PaxDbiQ14376
PeptideAtlasiQ14376
PRIDEiQ14376
ProteomicsDBi59972 [Q14376-1]
TopDownProteomicsiQ14376-1 [Q14376-1]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2582

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
2582
DisGeNETi2582

GeneCards: human genes, protein and diseases

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GeneCardsi
GALE
GeneReviewsiGALE
HGNCiHGNC:4116 GALE
HPAiHPA007340
MalaCardsiGALE
MIMi230350 phenotype
606953 gene
neXtProtiNX_Q14376
OpenTargetsiENSG00000117308
Orphaneti308473 Erythrocyte galactose epimerase deficiency
308487 Generalized galactose epimerase deficiency
PharmGKBiPA28531

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1371 Eukaryota
COG1087 LUCA
GeneTreeiENSGT00940000158000
HOGENOMiHOG000168001
InParanoidiQ14376
KOiK01784
OMAiGEHLICN
OrthoDBi662484at2759
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-RKiQ14376

Miscellaneous databases

EvolutionaryTraceiQ14376

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2582
PharosiQ14376

Protein Ontology

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PROi
PR:Q14376

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000117308 Expressed in 196 organ(s), highest expression level in lower esophagus mucosa
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGALE_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q14376
Secondary accession number(s): A0A024RAH5
, B3KQ39, Q38G75, Q86W41, Q9BVE3, Q9UJB4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 10, 2005
Last modified: October 16, 2019
This is version 201 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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