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Protein

Galactose-1-phosphate uridylyltransferase

Gene

GALT

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

Plays an important role in galactose metabolism.2 Publications

<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

Zn2+1 PublicationNote: Binds 2 zinc ions per subunit.1 Publication

<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=1.25 mM for alpha-D-galactose 1-phosphate (at pH 8.7)1 Publication
  2. KM=0.43 mM for UDP-glucose (at pH 8.7)1 Publication
  1. Vmax=48 µmol/min/mg enzyme1 Publication

<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.2 Publications
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 ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi75Zinc 1PROSITE-ProRule annotation1
<p>This subsection of the ‘Function’ 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 sitei81UDP-alpha-D-glucose; via amide nitrogen1 Publication1
Binding sitei173UDP-alpha-D-glucose; shared with dimeric partner1 Publication1
Metal bindingi184Zinc 1PROSITE-ProRule annotation1
<p>This subsection of the ‘Function’ 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 sitei186Tele-UMP-histidine intermediatePROSITE-ProRule annotation1 Publication1
Binding sitei188UDP-alpha-D-glucose1 Publication1
Metal bindingi202Zinc 21 Publication1
Metal bindingi301Zinc 21 Publication1
Metal bindingi319Zinc 21 Publication1
Metal bindingi321Zinc 21 Publication1

<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 functionNucleotidyltransferase, Transferase
Biological processCarbohydrate metabolism, Galactose metabolism
LigandMetal-binding, Zinc

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS06274-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.7.7.12 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5609978 Defective GALT can cause Galactosemia
R-HSA-70370 Galactose catabolism

SABIO-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
P07902

SIGNOR Signaling Network Open Resource

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SIGNORi
P07902

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

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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:
Galactose-1-phosphate uridylyltransferase (EC:2.7.7.122 Publications)
Short name:
Gal-1-P uridylyltransferase
Alternative name(s):
UDP-glucose--hexose-1-phosphate uridylyltransferase
<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:GALT
<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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000213930.11

Human Gene Nomenclature Database

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HGNCi
HGNC:4135 GALT

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606999 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P07902

<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; 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

Galactosemia (GALCT)27 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionInherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation.
See also OMIM:230400
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_0685319Q → H in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033637EnsemblClinVar.1
Natural variantiVAR_06853223T → A in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033635EnsemblClinVar.1
Natural variantiVAR_06853328D → H in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033636EnsemblClinVar.1
Natural variantiVAR_00254828D → Y in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033636EnsemblClinVar.1
Natural variantiVAR_00254932I → N in GALCT; mild. 1 PublicationCorresponds to variant dbSNP:rs111033644EnsemblClinVar.1
Natural variantiVAR_06853433R → H in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033829EnsemblClinVar.1
Natural variantiVAR_07279333R → P in GALCT. 1 Publication1
Natural variantiVAR_06853534Y → N in GALCT; affects protein stability. 2 PublicationsCorresponds to variant dbSNP:rs111033836EnsemblClinVar.1
Natural variantiVAR_00255038Q → P in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033646EnsemblClinVar.1
Natural variantiVAR_00255144V → L in GALCT. Corresponds to variant dbSNP:rs111033647EnsemblClinVar.1
Natural variantiVAR_00255244V → M in GALCT; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs111033647EnsemblClinVar.1
Natural variantiVAR_00804245S → L in GALCT. Corresponds to variant dbSNP:rs111033652EnsemblClinVar.1
Natural variantiVAR_00255351R → L in GALCT. Corresponds to variant dbSNP:rs111033648EnsemblClinVar.1
Natural variantiVAR_02332851R → Q in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033648EnsemblClinVar.1
Natural variantiVAR_00255455G → C in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033654EnsemblClinVar.1
Natural variantiVAR_00255667R → C in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033658EnsemblClinVar.1
Natural variantiVAR_00255774L → P in GALCT; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs111033663EnsemblClinVar.1
Natural variantiVAR_00255881A → T in GALCT. Corresponds to variant dbSNP:rs111033665EnsemblClinVar.1
Natural variantiVAR_07279483G → V in GALCT. 1 Publication1
Natural variantiVAR_06882489Y → H in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033666EnsemblClinVar.1
Natural variantiVAR_00255997N → S in GALCT. Corresponds to variant dbSNP:rs111033669EnsemblClinVar.1
Natural variantiVAR_00256098D → N in GALCT. Corresponds to variant dbSNP:rs111033670EnsemblClinVar.1
Natural variantiVAR_068825103Q → R in GALCT. 1 PublicationCorresponds to variant dbSNP:rs367543252EnsemblClinVar.1
Natural variantiVAR_068536112S → R in GALCT. 1 Publication1
Natural variantiVAR_002561113D → N in GALCT. Corresponds to variant dbSNP:rs111033677EnsemblClinVar.1
Natural variantiVAR_002562114H → L in GALCT. Corresponds to variant dbSNP:rs111033678EnsemblClinVar.1
Natural variantiVAR_002563117F → S in GALCT. Corresponds to variant dbSNP:rs111033679EnsemblClinVar.1
Natural variantiVAR_002564118Q → H in GALCT. Corresponds to variant dbSNP:rs111033673EnsemblClinVar.1
Natural variantiVAR_002565123R → G in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033674EnsemblClinVar.1
Natural variantiVAR_002566123R → Q in GALCT. Corresponds to variant dbSNP:rs111033675EnsemblClinVar.1
Natural variantiVAR_002567125V → A in GALCT. Corresponds to variant dbSNP:rs111033680EnsemblClinVar.1
Natural variantiVAR_002568127K → E in GALCT. Corresponds to variant dbSNP:rs111033682EnsemblClinVar.1
Natural variantiVAR_008043129M → T in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033683EnsemblClinVar.1
Natural variantiVAR_002569130C → Y in GALCT. Corresponds to variant dbSNP:rs367543255EnsemblClinVar.1
Natural variantiVAR_068537132H → Q in GALCT; affects protein stability. 1 PublicationCorresponds to variant dbSNP:rs367543256EnsemblClinVar.1
Natural variantiVAR_002570132H → Y in GALCT. Corresponds to variant dbSNP:rs111033688EnsemblClinVar.1
Natural variantiVAR_002571135S → L in GALCT; frequent mutation in African Americans; about 5% of normal galactose uridylyltransferase activity. 5 PublicationsCorresponds to variant dbSNP:rs111033690EnsemblClinVar.1
Natural variantiVAR_023329135S → W in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033690EnsemblClinVar.1
Natural variantiVAR_002572138T → M in GALCT; mild. 1 PublicationCorresponds to variant dbSNP:rs111033686EnsemblClinVar.1
Natural variantiVAR_002573139L → P in GALCT. Corresponds to variant dbSNP:rs111033687EnsemblClinVar.1
Natural variantiVAR_002574142M → K in GALCT; 4% of normal activity. 2 PublicationsCorresponds to variant dbSNP:rs111033695EnsemblClinVar.1
Natural variantiVAR_072795142M → T in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033695EnsemblClinVar.1
Natural variantiVAR_002575142M → V in GALCT. Corresponds to variant dbSNP:rs111033692EnsemblClinVar.1
Natural variantiVAR_002576143S → L in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033697EnsemblClinVar.1
Natural variantiVAR_002577148R → G in GALCT. Corresponds to variant dbSNP:rs111033693EnsemblClinVar.1
Natural variantiVAR_002578148R → Q in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033694EnsemblClinVar.1
Natural variantiVAR_002579148R → W in GALCT; unstable protein. 1 PublicationCorresponds to variant dbSNP:rs111033693EnsemblClinVar.1
Natural variantiVAR_002580150V → L in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033699EnsemblClinVar.1
Natural variantiVAR_002581151V → A in GALCT; approximately 3% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs111033701Ensembl.1
Natural variantiVAR_002582154W → G in GALCT. Corresponds to variant dbSNP:rs111033702EnsemblClinVar.1
Natural variantiVAR_068826166P → A in GALCT. 1 PublicationCorresponds to variant dbSNP:rs367543257EnsemblClinVar.1
Natural variantiVAR_008044167W → R in GALCT. Corresponds to variant dbSNP:rs111033708EnsemblClinVar.1
Natural variantiVAR_068538168V → L in GALCT; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs367543258EnsemblClinVar.1
Natural variantiVAR_068539170I → T in GALCT; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs111033839EnsemblClinVar.1
Natural variantiVAR_002583171F → S in GALCT; reduced enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs111033715EnsemblClinVar.1
Natural variantiVAR_072796175G → D in GALCT; reduces strongly galactose uridylyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs111033718Ensembl.1
Natural variantiVAR_002584179G → D in GALCT. Corresponds to variant dbSNP:rs111033720EnsemblClinVar.1
Natural variantiVAR_068540181S → A in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033828EnsemblClinVar.1
Natural variantiVAR_068827181S → F in GALCT. 1 PublicationCorresponds to variant dbSNP:rs367543259EnsemblClinVar.1
Natural variantiVAR_002585183P → T in GALCT. 2 PublicationsCorresponds to variant dbSNP:rs111033721EnsemblClinVar.1
Natural variantiVAR_002586184H → Q in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033717EnsemblClinVar.1
Natural variantiVAR_068541185P → H in GALCT; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs111033722EnsemblClinVar.1
Natural variantiVAR_068828185P → L in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033722EnsemblClinVar.1
Natural variantiVAR_068542185P → S in GALCT. 2 PublicationsCorresponds to variant dbSNP:rs111033826EnsemblClinVar.1
Natural variantiVAR_002587188Q → R in GALCT; most common mutation; accounts for approximately 70% of GALCT alleles tested; 10% of normal galactose uridylyltransferase activity; impairs protein folding. 11 PublicationsCorresponds to variant dbSNP:rs75391579EnsemblClinVar.1
Natural variantiVAR_068543192S → G in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033830EnsemblClinVar.1
Natural variantiVAR_002588192S → N in GALCT. Corresponds to variant dbSNP:rs111033734EnsemblClinVar.1
Natural variantiVAR_002589194F → L in GALCT. Corresponds to variant dbSNP:rs111033726EnsemblClinVar.1
Natural variantiVAR_002590195L → P in GALCT; no enzymatic activity. 2 PublicationsCorresponds to variant dbSNP:rs111033728EnsemblClinVar.1
Natural variantiVAR_002591198I → M in GALCT. Corresponds to variant dbSNP:rs111033729EnsemblClinVar.1
Natural variantiVAR_002592198I → T in GALCT. Corresponds to variant dbSNP:rs1483461355Ensembl.1
Natural variantiVAR_002593199A → T in GALCT. Corresponds to variant dbSNP:rs111033730EnsemblClinVar.1
Natural variantiVAR_068544201R → C in GALCT; 2-fold decrease in activity. 2 PublicationsCorresponds to variant dbSNP:rs111033739Ensembl.1
Natural variantiVAR_002594201R → H in GALCT. Corresponds to variant dbSNP:rs111033735EnsemblClinVar.1
Natural variantiVAR_002595203E → K in GALCT. Corresponds to variant dbSNP:rs111033736EnsemblClinVar.1
Natural variantiVAR_008045204R → P in GALCT. Corresponds to variant dbSNP:rs111033740EnsemblClinVar.1
Natural variantiVAR_002596209Y → C in GALCT. Corresponds to variant dbSNP:rs111033744EnsemblClinVar.1
Natural variantiVAR_002597209Y → S in GALCT. Corresponds to variant dbSNP:rs111033744EnsemblClinVar.1
Natural variantiVAR_002598212Q → H in GALCT. 1
Natural variantiVAR_002599217L → P in GALCT. Corresponds to variant dbSNP:rs111033741EnsemblClinVar.1
Natural variantiVAR_068545220E → K in GALCT; 3-fold decrease in activity. 2 PublicationsCorresponds to variant dbSNP:rs111033747EnsemblClinVar.1
Natural variantiVAR_068546223R → S in GALCT; 3-fold decrease in activity. 2 PublicationsCorresponds to variant dbSNP:rs111033750EnsemblClinVar.1
Natural variantiVAR_002600226L → P in GALCT. Corresponds to variant dbSNP:rs111033752EnsemblClinVar.1
Natural variantiVAR_068547227L → P in GALCT; results in no detectable protein in the soluble fraction. 1 PublicationCorresponds to variant dbSNP:rs111033846EnsemblClinVar.1
Natural variantiVAR_023330229K → N in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033753EnsemblClinVar.1
Natural variantiVAR_072797231R → C in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033749EnsemblClinVar.1
Natural variantiVAR_002601231R → H in GALCT; 15% of normal activity. 2 PublicationsCorresponds to variant dbSNP:rs111033754EnsemblClinVar.1
Natural variantiVAR_072798244P → S in GALCT. 1 Publication1
Natural variantiVAR_002602249W → R in GALCT. Corresponds to variant dbSNP:rs111033757EnsemblClinVar.1
Natural variantiVAR_002603251Y → C in GALCT. Corresponds to variant dbSNP:rs111033755EnsemblClinVar.1
Natural variantiVAR_002604251Y → S in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033755EnsemblClinVar.1
Natural variantiVAR_023331252Q → H in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033769EnsemblClinVar.1
Natural variantiVAR_002605258R → C in GALCT. Corresponds to variant dbSNP:rs368166217EnsemblClinVar.1
Natural variantiVAR_068548259R → Q in GALCT; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs886042070EnsemblClinVar.1
Natural variantiVAR_002606259R → W in GALCT; mild. Corresponds to variant dbSNP:rs786204763EnsemblClinVar.1
Natural variantiVAR_002607262R → P in GALCT. Corresponds to variant dbSNP:rs111033763EnsemblClinVar.1
Natural variantiVAR_008046263Missing in GALCT. 1
Natural variantiVAR_068549265P → A in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033764EnsemblClinVar.1
Natural variantiVAR_072799267L → R in GALCT. 1 Publication1
Natural variantiVAR_072800267L → V in GALCT. 1 Publication1
Natural variantiVAR_072801271E → D in GALCT. 1 PublicationCorresponds to variant dbSNP:rs1262475195Ensembl.1
Natural variantiVAR_008047272R → G in GALCT. Corresponds to variant dbSNP:rs111033766EnsemblClinVar.1
Natural variantiVAR_068550278I → N in GALCT; 18-fold decrease in activity. 2 PublicationsCorresponds to variant dbSNP:rs111033778EnsemblClinVar.1
Natural variantiVAR_002608282L → V in GALCT. Corresponds to variant dbSNP:rs111033772EnsemblClinVar.1
Natural variantiVAR_002609285K → N in GALCT; severe; 25-40% of the European population; impairs protein folding; nearly abolishes enzyme activity. 5 PublicationsCorresponds to variant dbSNP:rs111033773EnsemblClinVar.1
Natural variantiVAR_068829285K → R in GALCT. 1 PublicationCorresponds to variant dbSNP:rs367543263EnsemblClinVar.1
Natural variantiVAR_068551289L → F in GALCT; 3-fold decrease in activity. 2 PublicationsCorresponds to variant dbSNP:rs111033774EnsemblClinVar.1
Natural variantiVAR_002610289L → R in GALCT. Corresponds to variant dbSNP:rs111033775EnsemblClinVar.1
Natural variantiVAR_002611291E → K in GALCT. Corresponds to variant dbSNP:rs111033780EnsemblClinVar.1
Natural variantiVAR_068552291E → V in GALCT; 2-fold decrease in activity. 1 PublicationCorresponds to variant dbSNP:rs111033841EnsemblClinVar.1
Natural variantiVAR_008048294F → Y in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033781EnsemblClinVar.1
Natural variantiVAR_002612308E → K in GALCT. Corresponds to variant dbSNP:rs111033784EnsemblClinVar.1
Natural variantiVAR_002613314N → D in GALCT; allele Duarte; exists as allelic variants Duarte-1 and Duarte-2; Duarte-1 has normal or increased activity; Duarte-2 has activity reduced to about 35-45% of normal. 10 PublicationsCorresponds to variant dbSNP:rs2070074EnsemblClinVar.1
Natural variantiVAR_002614317Q → H in GALCT. Corresponds to variant dbSNP:rs111033787EnsemblClinVar.1
Natural variantiVAR_002615317Q → R in GALCT. Corresponds to variant dbSNP:rs111033786EnsemblClinVar.1
Natural variantiVAR_002616319H → Q in GALCT. 3 PublicationsCorresponds to variant dbSNP:rs111033792EnsemblClinVar.1
Natural variantiVAR_002617320A → T in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033795EnsemblClinVar.1
Natural variantiVAR_002618323Y → D in GALCT. Corresponds to variant dbSNP:rs111033796EnsemblClinVar.1
Natural variantiVAR_002619323Y → H in GALCT. Corresponds to variant dbSNP:rs111033796EnsemblClinVar.1
Natural variantiVAR_002620324P → S in GALCT. Corresponds to variant dbSNP:rs111033798EnsemblClinVar.1
Natural variantiVAR_002621325P → L in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033794EnsemblClinVar.1
Natural variantiVAR_068553327L → P in GALCT; results in no detectable protein in the soluble fraction. 1 PublicationCorresponds to variant dbSNP:rs111033832EnsemblClinVar.1
Natural variantiVAR_002622328R → H in GALCT. Corresponds to variant dbSNP:rs111033802EnsemblClinVar.1
Natural variantiVAR_002623329S → F in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033803EnsemblClinVar.1
Natural variantiVAR_002624330A → V in GALCT; mild. 1 PublicationCorresponds to variant dbSNP:rs111033804EnsemblClinVar.1
Natural variantiVAR_002625333R → G in GALCT. Corresponds to variant dbSNP:rs111033800EnsemblClinVar.1
Natural variantiVAR_068830333R → L in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033808EnsemblClinVar.1
Natural variantiVAR_002626333R → Q in GALCT. Corresponds to variant dbSNP:rs111033808EnsemblClinVar.1
Natural variantiVAR_002627333R → W in GALCT; no enzymatic activity. 3 PublicationsCorresponds to variant dbSNP:rs111033800EnsemblClinVar.1
Natural variantiVAR_002628334K → R in GALCT. Corresponds to variant dbSNP:rs111033809EnsemblClinVar.1
Natural variantiVAR_002629336M → L in GALCT. Corresponds to variant dbSNP:rs111033810EnsemblClinVar.1
Natural variantiVAR_068554342L → I in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033812EnsemblClinVar.1
Natural variantiVAR_002630344Q → K in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033814EnsemblClinVar.1
Natural variantiVAR_068555345A → D in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033815EnsemblClinVar.1
Natural variantiVAR_002631350T → A in GALCT; mild. Corresponds to variant dbSNP:rs111033817EnsemblClinVar.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2592

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

More...
GeneReviewsi
GALT

MalaCards human disease database

More...
MalaCardsi
GALT
MIMi230400 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000213930

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

More...
Orphaneti
79239 Classic galactosemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28548

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GALT

Domain mapping of disease mutations (DMDM)

More...
DMDMi
3183522

<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_00001698821 – 379Galactose-1-phosphate uridylyltransferaseAdd BLAST379

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P07902

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P07902

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P07902

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

More...
PaxDbi
P07902

PeptideAtlas

More...
PeptideAtlasi
P07902

PRoteomics IDEntifications database

More...
PRIDEi
P07902

ProteomicsDB human proteome resource

More...
ProteomicsDBi
52033

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P07902

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

More...
PhosphoSitePlusi
P07902

<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

More...
Bgeei
ENSG00000213930 Expressed in 181 organ(s), highest expression level in right lobe of liver

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P07902 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P07902 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA004868
HPA005729

<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.1 Publication

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108864, 9 interactors

Protein interaction database and analysis system

More...
IntActi
P07902, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000368119

<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

1379
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1R3Amodel-A/B21-379[»]
5IN3X-ray1.73A/B1-379[»]
6GQDX-ray1.52A1-379[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P07902

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

More...
SMRi
P07902

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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>Regioni97 – 98UDP-alpha-D-glucose binding1 Publication2
Regioni334 – 337UDP-alpha-D-glucose binding1 Publication4
Regioni339 – 340UDP-alpha-D-glucose binding1 Publication2

<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

More...
eggNOGi
KOG2958 Eukaryota
COG1085 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000016188

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000230490

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG051700

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P07902

KEGG Orthology (KO)

More...
KOi
K00965

Identification of Orthologs from Complete Genome Data

More...
OMAi
HAIYYPP

Database of Orthologous Groups

More...
OrthoDBi
1135699at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P07902

TreeFam database of animal gene trees

More...
TreeFami
TF300018

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00608 GalT, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.428.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001937 GalP_UDPtransf1
IPR019779 GalP_UDPtransf1_His-AS
IPR005850 GalP_Utransf_C
IPR005849 GalP_Utransf_N
IPR036265 HIT-like_sf

The PANTHER Classification System

More...
PANTHERi
PTHR11943 PTHR11943, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02744 GalP_UDP_tr_C, 1 hit
PF01087 GalP_UDP_transf, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF000808 GalT, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF54197 SSF54197, 2 hits

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00209 galT_1, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00117 GAL_P_UDP_TRANSF_I, 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>.<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: P07902-1) [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
MSRSGTDPQQ RQQASEADAA AATFRANDHQ HIRYNPLQDE WVLVSAHRMK
60 70 80 90 100
RPWQGQVEPQ LLKTVPRHDP LNPLCPGAIR ANGEVNPQYD STFLFDNDFP
110 120 130 140 150
ALQPDAPSPG PSDHPLFQAK SARGVCKVMC FHPWSDVTLP LMSVPEIRAV
160 170 180 190 200
VDAWASVTEE LGAQYPWVQI FENKGAMMGC SNPHPHCQVW ASSFLPDIAQ
210 220 230 240 250
REERSQQAYK SQHGEPLLME YSRQELLRKE RLVLTSEHWL VLVPFWATWP
260 270 280 290 300
YQTLLLPRRH VRRLPELTPA ERDDLASIMK KLLTKYDNLF ETSFPYSMGW
310 320 330 340 350
HGAPTGSEAG ANWNHWQLHA HYYPPLLRSA TVRKFMVGYE MLAQAQRDLT
360 370
PEQAAERLRA LPEVHYHLGQ KDRETATIA
Length:379
Mass (Da):43,363
Last modified:July 15, 1998 - v3
<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:i99945FF99C4F0066
GO
Isoform 2 (identifier: P07902-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: MSRSGTDPQQRQQASEA → MTLSTLCVLGPSEPTES
     18-126: Missing.

Note: No experimental confirmation available.
Show »
Length:270
Mass (Da):31,107
Checksum:iDC1A03FDA8DC06FE
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
G3V223G3V223_HUMAN
Galactose-1-phosphate uridylyltrans...
GALT
90Annotation 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>
F2Z2X9F2Z2X9_HUMAN
Galactose-1-phosphate uridylyltrans...
GALT
120Annotation 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>
H0YJL3H0YJL3_HUMAN
Galactose-1-phosphate uridylyltrans...
GALT
59Annotation 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>
G3V3U5G3V3U5_HUMAN
Galactose-1-phosphate uridylyltrans...
GALT
84Annotation 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>

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 conflicti258 – 259RR → VG in AAC83409 (PubMed:2840550).Curated2
Sequence conflicti335F → L in BAG64359 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0685319Q → H in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033637EnsemblClinVar.1
Natural variantiVAR_06853223T → A in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033635EnsemblClinVar.1
Natural variantiVAR_06853328D → H in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033636EnsemblClinVar.1
Natural variantiVAR_00254828D → Y in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033636EnsemblClinVar.1
Natural variantiVAR_00254932I → N in GALCT; mild. 1 PublicationCorresponds to variant dbSNP:rs111033644EnsemblClinVar.1
Natural variantiVAR_06853433R → H in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033829EnsemblClinVar.1
Natural variantiVAR_07279333R → P in GALCT. 1 Publication1
Natural variantiVAR_06853534Y → N in GALCT; affects protein stability. 2 PublicationsCorresponds to variant dbSNP:rs111033836EnsemblClinVar.1
Natural variantiVAR_00255038Q → P in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033646EnsemblClinVar.1
Natural variantiVAR_00255144V → L in GALCT. Corresponds to variant dbSNP:rs111033647EnsemblClinVar.1
Natural variantiVAR_00255244V → M in GALCT; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs111033647EnsemblClinVar.1
Natural variantiVAR_00804245S → L in GALCT. Corresponds to variant dbSNP:rs111033652EnsemblClinVar.1
Natural variantiVAR_00255351R → L in GALCT. Corresponds to variant dbSNP:rs111033648EnsemblClinVar.1
Natural variantiVAR_02332851R → Q in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033648EnsemblClinVar.1
Natural variantiVAR_00255455G → C in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033654EnsemblClinVar.1
Natural variantiVAR_00255562L → M1 PublicationCorresponds to variant dbSNP:rs1800461EnsemblClinVar.1
Natural variantiVAR_00255667R → C in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033658EnsemblClinVar.1
Natural variantiVAR_00255774L → P in GALCT; reduced enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs111033663EnsemblClinVar.1
Natural variantiVAR_00255881A → T in GALCT. Corresponds to variant dbSNP:rs111033665EnsemblClinVar.1
Natural variantiVAR_07279483G → V in GALCT. 1 Publication1
Natural variantiVAR_06882489Y → H in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033666EnsemblClinVar.1
Natural variantiVAR_00255997N → S in GALCT. Corresponds to variant dbSNP:rs111033669EnsemblClinVar.1
Natural variantiVAR_00256098D → N in GALCT. Corresponds to variant dbSNP:rs111033670EnsemblClinVar.1
Natural variantiVAR_068825103Q → R in GALCT. 1 PublicationCorresponds to variant dbSNP:rs367543252EnsemblClinVar.1
Natural variantiVAR_068536112S → R in GALCT. 1 Publication1
Natural variantiVAR_002561113D → N in GALCT. Corresponds to variant dbSNP:rs111033677EnsemblClinVar.1
Natural variantiVAR_002562114H → L in GALCT. Corresponds to variant dbSNP:rs111033678EnsemblClinVar.1
Natural variantiVAR_002563117F → S in GALCT. Corresponds to variant dbSNP:rs111033679EnsemblClinVar.1
Natural variantiVAR_002564118Q → H in GALCT. Corresponds to variant dbSNP:rs111033673EnsemblClinVar.1
Natural variantiVAR_002565123R → G in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033674EnsemblClinVar.1
Natural variantiVAR_002566123R → Q in GALCT. Corresponds to variant dbSNP:rs111033675EnsemblClinVar.1
Natural variantiVAR_002567125V → A in GALCT. Corresponds to variant dbSNP:rs111033680EnsemblClinVar.1
Natural variantiVAR_002568127K → E in GALCT. Corresponds to variant dbSNP:rs111033682EnsemblClinVar.1
Natural variantiVAR_008043129M → T in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033683EnsemblClinVar.1
Natural variantiVAR_002569130C → Y in GALCT. Corresponds to variant dbSNP:rs367543255EnsemblClinVar.1
Natural variantiVAR_068537132H → Q in GALCT; affects protein stability. 1 PublicationCorresponds to variant dbSNP:rs367543256EnsemblClinVar.1
Natural variantiVAR_002570132H → Y in GALCT. Corresponds to variant dbSNP:rs111033688EnsemblClinVar.1
Natural variantiVAR_002571135S → L in GALCT; frequent mutation in African Americans; about 5% of normal galactose uridylyltransferase activity. 5 PublicationsCorresponds to variant dbSNP:rs111033690EnsemblClinVar.1
Natural variantiVAR_023329135S → W in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033690EnsemblClinVar.1
Natural variantiVAR_002572138T → M in GALCT; mild. 1 PublicationCorresponds to variant dbSNP:rs111033686EnsemblClinVar.1
Natural variantiVAR_002573139L → P in GALCT. Corresponds to variant dbSNP:rs111033687EnsemblClinVar.1
Natural variantiVAR_002574142M → K in GALCT; 4% of normal activity. 2 PublicationsCorresponds to variant dbSNP:rs111033695EnsemblClinVar.1
Natural variantiVAR_072795142M → T in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033695EnsemblClinVar.1
Natural variantiVAR_002575142M → V in GALCT. Corresponds to variant dbSNP:rs111033692EnsemblClinVar.1
Natural variantiVAR_002576143S → L in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033697EnsemblClinVar.1
Natural variantiVAR_002577148R → G in GALCT. Corresponds to variant dbSNP:rs111033693EnsemblClinVar.1
Natural variantiVAR_002578148R → Q in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033694EnsemblClinVar.1
Natural variantiVAR_002579148R → W in GALCT; unstable protein. 1 PublicationCorresponds to variant dbSNP:rs111033693EnsemblClinVar.1
Natural variantiVAR_002580150V → L in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033699EnsemblClinVar.1
Natural variantiVAR_002581151V → A in GALCT; approximately 3% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs111033701Ensembl.1
Natural variantiVAR_002582154W → G in GALCT. Corresponds to variant dbSNP:rs111033702EnsemblClinVar.1
Natural variantiVAR_068826166P → A in GALCT. 1 PublicationCorresponds to variant dbSNP:rs367543257EnsemblClinVar.1
Natural variantiVAR_008044167W → R in GALCT. Corresponds to variant dbSNP:rs111033708EnsemblClinVar.1
Natural variantiVAR_068538168V → L in GALCT; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs367543258EnsemblClinVar.1
Natural variantiVAR_068539170I → T in GALCT; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs111033839EnsemblClinVar.1
Natural variantiVAR_002583171F → S in GALCT; reduced enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs111033715EnsemblClinVar.1
Natural variantiVAR_072796175G → D in GALCT; reduces strongly galactose uridylyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs111033718Ensembl.1
Natural variantiVAR_002584179G → D in GALCT. Corresponds to variant dbSNP:rs111033720EnsemblClinVar.1
Natural variantiVAR_068540181S → A in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033828EnsemblClinVar.1
Natural variantiVAR_068827181S → F in GALCT. 1 PublicationCorresponds to variant dbSNP:rs367543259EnsemblClinVar.1
Natural variantiVAR_002585183P → T in GALCT. 2 PublicationsCorresponds to variant dbSNP:rs111033721EnsemblClinVar.1
Natural variantiVAR_002586184H → Q in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033717EnsemblClinVar.1
Natural variantiVAR_068541185P → H in GALCT; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs111033722EnsemblClinVar.1
Natural variantiVAR_068828185P → L in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033722EnsemblClinVar.1
Natural variantiVAR_068542185P → S in GALCT. 2 PublicationsCorresponds to variant dbSNP:rs111033826EnsemblClinVar.1
Natural variantiVAR_002587188Q → R in GALCT; most common mutation; accounts for approximately 70% of GALCT alleles tested; 10% of normal galactose uridylyltransferase activity; impairs protein folding. 11 PublicationsCorresponds to variant dbSNP:rs75391579EnsemblClinVar.1
Natural variantiVAR_068543192S → G in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033830EnsemblClinVar.1
Natural variantiVAR_002588192S → N in GALCT. Corresponds to variant dbSNP:rs111033734EnsemblClinVar.1
Natural variantiVAR_002589194F → L in GALCT. Corresponds to variant dbSNP:rs111033726EnsemblClinVar.1
Natural variantiVAR_002590195L → P in GALCT; no enzymatic activity. 2 PublicationsCorresponds to variant dbSNP:rs111033728EnsemblClinVar.1
Natural variantiVAR_002591198I → M in GALCT. Corresponds to variant dbSNP:rs111033729EnsemblClinVar.1
Natural variantiVAR_002592198I → T in GALCT. Corresponds to variant dbSNP:rs1483461355Ensembl.1
Natural variantiVAR_002593199A → T in GALCT. Corresponds to variant dbSNP:rs111033730EnsemblClinVar.1
Natural variantiVAR_068544201R → C in GALCT; 2-fold decrease in activity. 2 PublicationsCorresponds to variant dbSNP:rs111033739Ensembl.1
Natural variantiVAR_002594201R → H in GALCT. Corresponds to variant dbSNP:rs111033735EnsemblClinVar.1
Natural variantiVAR_002595203E → K in GALCT. Corresponds to variant dbSNP:rs111033736EnsemblClinVar.1
Natural variantiVAR_008045204R → P in GALCT. Corresponds to variant dbSNP:rs111033740EnsemblClinVar.1
Natural variantiVAR_002596209Y → C in GALCT. Corresponds to variant dbSNP:rs111033744EnsemblClinVar.1
Natural variantiVAR_002597209Y → S in GALCT. Corresponds to variant dbSNP:rs111033744EnsemblClinVar.1
Natural variantiVAR_002598212Q → H in GALCT. 1
Natural variantiVAR_002599217L → P in GALCT. Corresponds to variant dbSNP:rs111033741EnsemblClinVar.1
Natural variantiVAR_068545220E → K in GALCT; 3-fold decrease in activity. 2 PublicationsCorresponds to variant dbSNP:rs111033747EnsemblClinVar.1
Natural variantiVAR_068546223R → S in GALCT; 3-fold decrease in activity. 2 PublicationsCorresponds to variant dbSNP:rs111033750EnsemblClinVar.1
Natural variantiVAR_002600226L → P in GALCT. Corresponds to variant dbSNP:rs111033752EnsemblClinVar.1
Natural variantiVAR_068547227L → P in GALCT; results in no detectable protein in the soluble fraction. 1 PublicationCorresponds to variant dbSNP:rs111033846EnsemblClinVar.1
Natural variantiVAR_023330229K → N in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033753EnsemblClinVar.1
Natural variantiVAR_072797231R → C in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033749EnsemblClinVar.1
Natural variantiVAR_002601231R → H in GALCT; 15% of normal activity. 2 PublicationsCorresponds to variant dbSNP:rs111033754EnsemblClinVar.1
Natural variantiVAR_072798244P → S in GALCT. 1 Publication1
Natural variantiVAR_002602249W → R in GALCT. Corresponds to variant dbSNP:rs111033757EnsemblClinVar.1
Natural variantiVAR_002603251Y → C in GALCT. Corresponds to variant dbSNP:rs111033755EnsemblClinVar.1
Natural variantiVAR_002604251Y → S in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033755EnsemblClinVar.1
Natural variantiVAR_023331252Q → H in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033769EnsemblClinVar.1
Natural variantiVAR_002605258R → C in GALCT. Corresponds to variant dbSNP:rs368166217EnsemblClinVar.1
Natural variantiVAR_068548259R → Q in GALCT; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs886042070EnsemblClinVar.1
Natural variantiVAR_002606259R → W in GALCT; mild. Corresponds to variant dbSNP:rs786204763EnsemblClinVar.1
Natural variantiVAR_002607262R → P in GALCT. Corresponds to variant dbSNP:rs111033763EnsemblClinVar.1
Natural variantiVAR_008046263Missing in GALCT. 1
Natural variantiVAR_068549265P → A in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033764EnsemblClinVar.1
Natural variantiVAR_072799267L → R in GALCT. 1 Publication1
Natural variantiVAR_072800267L → V in GALCT. 1 Publication1
Natural variantiVAR_072801271E → D in GALCT. 1 PublicationCorresponds to variant dbSNP:rs1262475195Ensembl.1
Natural variantiVAR_008047272R → G in GALCT. Corresponds to variant dbSNP:rs111033766EnsemblClinVar.1
Natural variantiVAR_068550278I → N in GALCT; 18-fold decrease in activity. 2 PublicationsCorresponds to variant dbSNP:rs111033778EnsemblClinVar.1
Natural variantiVAR_002608282L → V in GALCT. Corresponds to variant dbSNP:rs111033772EnsemblClinVar.1
Natural variantiVAR_002609285K → N in GALCT; severe; 25-40% of the European population; impairs protein folding; nearly abolishes enzyme activity. 5 PublicationsCorresponds to variant dbSNP:rs111033773EnsemblClinVar.1
Natural variantiVAR_068829285K → R in GALCT. 1 PublicationCorresponds to variant dbSNP:rs367543263EnsemblClinVar.1
Natural variantiVAR_068551289L → F in GALCT; 3-fold decrease in activity. 2 PublicationsCorresponds to variant dbSNP:rs111033774EnsemblClinVar.1
Natural variantiVAR_002610289L → R in GALCT. Corresponds to variant dbSNP:rs111033775EnsemblClinVar.1
Natural variantiVAR_002611291E → K in GALCT. Corresponds to variant dbSNP:rs111033780EnsemblClinVar.1
Natural variantiVAR_068552291E → V in GALCT; 2-fold decrease in activity. 1 PublicationCorresponds to variant dbSNP:rs111033841EnsemblClinVar.1
Natural variantiVAR_008048294F → Y in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033781EnsemblClinVar.1
Natural variantiVAR_002612308E → K in GALCT. Corresponds to variant dbSNP:rs111033784EnsemblClinVar.1
Natural variantiVAR_002613314N → D in GALCT; allele Duarte; exists as allelic variants Duarte-1 and Duarte-2; Duarte-1 has normal or increased activity; Duarte-2 has activity reduced to about 35-45% of normal. 10 PublicationsCorresponds to variant dbSNP:rs2070074EnsemblClinVar.1
Natural variantiVAR_002614317Q → H in GALCT. Corresponds to variant dbSNP:rs111033787EnsemblClinVar.1
Natural variantiVAR_002615317Q → R in GALCT. Corresponds to variant dbSNP:rs111033786EnsemblClinVar.1
Natural variantiVAR_002616319H → Q in GALCT. 3 PublicationsCorresponds to variant dbSNP:rs111033792EnsemblClinVar.1
Natural variantiVAR_002617320A → T in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033795EnsemblClinVar.1
Natural variantiVAR_002618323Y → D in GALCT. Corresponds to variant dbSNP:rs111033796EnsemblClinVar.1
Natural variantiVAR_002619323Y → H in GALCT. Corresponds to variant dbSNP:rs111033796EnsemblClinVar.1
Natural variantiVAR_002620324P → S in GALCT. Corresponds to variant dbSNP:rs111033798EnsemblClinVar.1
Natural variantiVAR_002621325P → L in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033794EnsemblClinVar.1
Natural variantiVAR_068553327L → P in GALCT; results in no detectable protein in the soluble fraction. 1 PublicationCorresponds to variant dbSNP:rs111033832EnsemblClinVar.1
Natural variantiVAR_002622328R → H in GALCT. Corresponds to variant dbSNP:rs111033802EnsemblClinVar.1
Natural variantiVAR_002623329S → F in GALCT. 1 PublicationCorresponds to variant dbSNP:rs111033803EnsemblClinVar.1
Natural variantiVAR_002624330A → V in GALCT; mild. 1 PublicationCorresponds to variant dbSNP:rs111033804EnsemblClinVar.1
Natural variantiVAR_002625333R → G in GALCT. Corresponds to variant