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Protein

Galactose-1-phosphate uridylyltransferase

Gene

GALT

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

Functioni

Plays an important role in galactose metabolism.2 Publications

Catalytic activityi

UDP-alpha-D-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDP-alpha-D-galactose.2 Publications

Cofactori

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

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

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
Metal bindingi75Zinc 1PROSITE-ProRule annotation1
Binding sitei81UDP-alpha-D-glucose; via amide nitrogen1 Publication1
Binding sitei173UDP-alpha-D-glucose; shared with dimeric partner1 Publication1
Metal bindingi184Zinc 1PROSITE-ProRule annotation1
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

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

BioCyciMetaCyc:HS06274-MONOMER
BRENDAi2.7.7.12 2681
ReactomeiR-HSA-5609978 Defective GALT can cause Galactosemia
R-HSA-70370 Galactose catabolism
SABIO-RKiP07902
SIGNORiP07902
UniPathwayi
UPA00214

Names & Taxonomyi

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
Gene namesi
Name:GALT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000213930.11
HGNCiHGNC:4135 GALT
MIMi606999 gene
neXtProtiNX_P07902

Subcellular locationi

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

Pathology & Biotechi

Involvement in diseasei

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
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 Publication1
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

DisGeNETi2592
GeneReviewsiGALT
MalaCardsiGALT
MIMi230400 phenotype
OpenTargetsiENSG00000213930
Orphaneti79239 Classic galactosemia
PharmGKBiPA28548

Polymorphism and mutation databases

BioMutaiGALT
DMDMi3183522

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001698821 – 379Galactose-1-phosphate uridylyltransferaseAdd BLAST379

Proteomic databases

EPDiP07902
MaxQBiP07902
PaxDbiP07902
PeptideAtlasiP07902
PRIDEiP07902
ProteomicsDBi52033

PTM databases

iPTMnetiP07902
PhosphoSitePlusiP07902

Expressioni

Gene expression databases

BgeeiENSG00000213930 Expressed in 181 organ(s), highest expression level in right lobe of liver
ExpressionAtlasiP07902 baseline and differential
GenevisibleiP07902 HS

Organism-specific databases

HPAiHPA004868
HPA005729

Interactioni

Subunit structurei

Homodimer.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi108864, 9 interactors
IntActiP07902, 5 interactors
STRINGi9606.ENSP00000368119

Structurei

Secondary structure

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

3D structure databases

ProteinModelPortaliP07902
SMRiP07902
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni97 – 98UDP-alpha-D-glucose binding1 Publication2
Regioni334 – 337UDP-alpha-D-glucose binding1 Publication4
Regioni339 – 340UDP-alpha-D-glucose binding1 Publication2

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2958 Eukaryota
COG1085 LUCA
GeneTreeiENSGT00390000016188
HOGENOMiHOG000230490
HOVERGENiHBG051700
InParanoidiP07902
KOiK00965
OMAiHAIYYPP
OrthoDBiEOG091G0ER8
PhylomeDBiP07902
TreeFamiTF300018

Family and domain databases

CDDicd00608 GalT, 1 hit
Gene3Di3.30.428.10, 2 hits
InterProiView protein in InterPro
IPR001937 GalP_UDPtransf1
IPR019779 GalP_UDPtransf1_His-AS
IPR005850 GalP_Utransf_C
IPR005849 GalP_Utransf_N
IPR036265 HIT-like_sf
PANTHERiPTHR11943 PTHR11943, 1 hit
PfamiView protein in Pfam
PF02744 GalP_UDP_tr_C, 1 hit
PF01087 GalP_UDP_transf, 1 hit
PIRSFiPIRSF000808 GalT, 1 hit
SUPFAMiSSF54197 SSF54197, 2 hits
TIGRFAMsiTIGR00209 galT_1, 1 hit
PROSITEiView protein in PROSITE
PS00117 GAL_P_UDP_TRANSF_I, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

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

Isoform 1 (identifier: 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
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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F2Z2X9F2Z2X9_HUMAN
Galactose-1-phosphate uridylyltrans...
GALT
120Annotation score:
G3V223G3V223_HUMAN
Galactose-1-phosphate uridylyltrans...
GALT
90Annotation score:
H0YJL3H0YJL3_HUMAN
Galactose-1-phosphate uridylyltrans...
GALT
59Annotation score:
G3V3U5G3V3U5_HUMAN
Galactose-1-phosphate uridylyltrans...
GALT
84Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 Publication1
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:rs111033814Ensembl