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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-Experimental evidence at protein leveli

Functioni

Catalytic activityi

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

Cofactori

Protein has several cofactor binding sites:
  • Fe cationCuratedNote: Binds 1 Fe cation per subunit.Curated
  • Zn2+CuratedNote: Binds 1 zinc ion per subunit.Curated

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.
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 bindingi75ZincPROSITE-ProRule annotation1
Metal bindingi184ZincPROSITE-ProRule annotation1
Active sitei186Tele-UMP-histidine intermediatePROSITE-ProRule annotation1
Metal bindingi202IronSequence analysis1
Metal bindingi301IronSequence analysis1
Metal bindingi319IronSequence analysis1
Metal bindingi321IronSequence analysis1

GO - Molecular functioni

GO - Biological processi

  • galactose catabolic process Source: Reactome
  • galactose metabolic process Source: ProtInc
  • UDP-glucose catabolic process Source: Ensembl
Complete GO annotation...

Keywordsi

Molecular functionNucleotidyltransferase, Transferase
Biological processCarbohydrate metabolism, Galactose metabolism
LigandIron, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000128310-MONOMER.
ZFISH:HS06274-MONOMER.
BRENDAi2.7.7.12. 2681.
ReactomeiR-HSA-70370. Galactose catabolism.
SABIO-RKP07902.
UniPathwayiUPA00214.

Names & Taxonomyi

Protein namesi
Recommended name:
Galactose-1-phosphate uridylyltransferase (EC:2.7.7.12)
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

HGNCiHGNC:4135. GALT.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • Golgi apparatus Source: UniProtKB

Pathology & Biotechi

Involvement in diseasei

Galactosemia (GALCT)25 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. Corresponds to variant dbSNP:rs1110336371 PublicationEnsembl.1
Natural variantiVAR_06853223T → A in GALCT. Corresponds to variant dbSNP:rs1110336351 PublicationEnsembl.1
Natural variantiVAR_06853328D → H in GALCT. Corresponds to variant dbSNP:rs1110336361 PublicationEnsembl.1
Natural variantiVAR_00254828D → Y in GALCT. Corresponds to variant dbSNP:rs1110336361 PublicationEnsembl.1
Natural variantiVAR_00254932I → N in GALCT; mild. Corresponds to variant dbSNP:rs1110336441 PublicationEnsembl.1
Natural variantiVAR_06853433R → H in GALCT. Corresponds to variant dbSNP:rs1110338291 PublicationEnsembl.1
Natural variantiVAR_07279333R → P in GALCT. 1 Publication1
Natural variantiVAR_06853534Y → N in GALCT; affects protein stability. Corresponds to variant dbSNP:rs1110338362 PublicationsEnsembl.1
Natural variantiVAR_00255038Q → P in GALCT. Corresponds to variant dbSNP:rs1110336461 PublicationEnsembl.1
Natural variantiVAR_00255144V → L in GALCT. Corresponds to variant dbSNP:rs111033647Ensembl.1
Natural variantiVAR_00255244V → M in GALCT; reduced enzyme activity. Corresponds to variant dbSNP:rs1110336471 PublicationEnsembl.1
Natural variantiVAR_00804245S → L in GALCT. Corresponds to variant dbSNP:rs111033652Ensembl.1
Natural variantiVAR_00255351R → L in GALCT. Corresponds to variant dbSNP:rs111033648Ensembl.1
Natural variantiVAR_02332851R → Q in GALCT. Corresponds to variant dbSNP:rs1110336481 PublicationEnsembl.1
Natural variantiVAR_00255455G → C in GALCT. Corresponds to variant dbSNP:rs1110336541 PublicationEnsembl.1
Natural variantiVAR_00255667R → C in GALCT. Corresponds to variant dbSNP:rs1110336581 PublicationEnsembl.1
Natural variantiVAR_00255774L → P in GALCT; reduced enzyme activity. Corresponds to variant dbSNP:rs1110336631 PublicationEnsembl.1
Natural variantiVAR_00255881A → T in GALCT. Corresponds to variant dbSNP:rs111033665Ensembl.1
Natural variantiVAR_07279483G → V in GALCT. 1 Publication1
Natural variantiVAR_06882489Y → H in GALCT. Corresponds to variant dbSNP:rs1110336661 PublicationEnsembl.1
Natural variantiVAR_00255997N → S in GALCT. Corresponds to variant dbSNP:rs111033669Ensembl.1
Natural variantiVAR_00256098D → N in GALCT. Corresponds to variant dbSNP:rs111033670Ensembl.1
Natural variantiVAR_068825103Q → R in GALCT. Corresponds to variant dbSNP:rs3675432521 PublicationEnsembl.1
Natural variantiVAR_068536112S → R in GALCT. 1 Publication1
Natural variantiVAR_002561113D → N in GALCT. Corresponds to variant dbSNP:rs111033677Ensembl.1
Natural variantiVAR_002562114H → L in GALCT. Corresponds to variant dbSNP:rs111033678Ensembl.1
Natural variantiVAR_002563117F → S in GALCT. Corresponds to variant dbSNP:rs111033679Ensembl.1
Natural variantiVAR_002564118Q → H in GALCT. Corresponds to variant dbSNP:rs111033673Ensembl.1
Natural variantiVAR_002565123R → G in GALCT. Corresponds to variant dbSNP:rs1110336741 PublicationEnsembl.1
Natural variantiVAR_002566123R → Q in GALCT. Corresponds to variant dbSNP:rs111033675Ensembl.1
Natural variantiVAR_002567125V → A in GALCT. Corresponds to variant dbSNP:rs111033680Ensembl.1
Natural variantiVAR_002568127K → E in GALCT. Corresponds to variant dbSNP:rs111033682Ensembl.1
Natural variantiVAR_008043129M → T in GALCT. Corresponds to variant dbSNP:rs1110336831 PublicationEnsembl.1
Natural variantiVAR_002569130C → Y in GALCT. Corresponds to variant dbSNP:rs367543255Ensembl.1
Natural variantiVAR_068537132H → Q in GALCT; affects protein stability. Corresponds to variant dbSNP:rs3675432561 PublicationEnsembl.1
Natural variantiVAR_002570132H → Y in GALCT. Corresponds to variant dbSNP:rs111033688Ensembl.1
Natural variantiVAR_002571135S → L in GALCT; frequent mutation in African Americans; about 5% of normal galactose uridylyltransferase activity. Corresponds to variant dbSNP:rs1110336905 PublicationsEnsembl.1
Natural variantiVAR_023329135S → W in GALCT. Corresponds to variant dbSNP:rs1110336901 PublicationEnsembl.1
Natural variantiVAR_002572138T → M in GALCT; mild. Corresponds to variant dbSNP:rs1110336861 PublicationEnsembl.1
Natural variantiVAR_002573139L → P in GALCT. Corresponds to variant dbSNP:rs111033687Ensembl.1
Natural variantiVAR_002574142M → K in GALCT; 4% of normal activity. Corresponds to variant dbSNP:rs1110336952 PublicationsEnsembl.1
Natural variantiVAR_072795142M → T in GALCT. Corresponds to variant dbSNP:rs1110336951 PublicationEnsembl.1
Natural variantiVAR_002575142M → V in GALCT. Corresponds to variant dbSNP:rs111033692Ensembl.1
Natural variantiVAR_002576143S → L in GALCT. Corresponds to variant dbSNP:rs1110336971 PublicationEnsembl.1
Natural variantiVAR_002577148R → G in GALCT. Corresponds to variant dbSNP:rs111033693Ensembl.1
Natural variantiVAR_002578148R → Q in GALCT. Corresponds to variant dbSNP:rs1110336941 PublicationEnsembl.1
Natural variantiVAR_002579148R → W in GALCT; unstable protein. Corresponds to variant dbSNP:rs1110336931 PublicationEnsembl.1
Natural variantiVAR_002580150V → L in GALCT. Corresponds to variant dbSNP:rs1110336991 PublicationEnsembl.1
Natural variantiVAR_002581151V → A in GALCT; approximatively 3% of normal activity. Corresponds to variant dbSNP:rs1110337011 PublicationEnsembl.1
Natural variantiVAR_002582154W → G in GALCT. Corresponds to variant dbSNP:rs111033702Ensembl.1
Natural variantiVAR_068826166P → A in GALCT. Corresponds to variant dbSNP:rs3675432571 PublicationEnsembl.1
Natural variantiVAR_008044167W → R in GALCT. Corresponds to variant dbSNP:rs111033708Ensembl.1
Natural variantiVAR_068538168V → L in GALCT; loss of activity. Corresponds to variant dbSNP:rs3675432581 PublicationEnsembl.1
Natural variantiVAR_068539170I → T in GALCT; loss of activity. Corresponds to variant dbSNP:rs1110338391 PublicationEnsembl.1
Natural variantiVAR_002583171F → S in GALCT; reduced enzyme activity. Corresponds to variant dbSNP:rs1110337152 PublicationsEnsembl.1
Natural variantiVAR_072796175G → D in GALCT; reduces strongly galactose uridylyltransferase activity. Corresponds to variant dbSNP:rs1110337181 PublicationEnsembl.1
Natural variantiVAR_002584179G → D in GALCT. Corresponds to variant dbSNP:rs111033720Ensembl.1
Natural variantiVAR_068540181S → A in GALCT. Corresponds to variant dbSNP:rs1110338281 PublicationEnsembl.1
Natural variantiVAR_068827181S → F in GALCT. Corresponds to variant dbSNP:rs3675432591 PublicationEnsembl.1
Natural variantiVAR_002585183P → T in GALCT. Corresponds to variant dbSNP:rs1110337212 PublicationsEnsembl.1
Natural variantiVAR_002586184H → Q in GALCT. Corresponds to variant dbSNP:rs1110337171 PublicationEnsembl.1
Natural variantiVAR_068541185P → H in GALCT; loss of activity. Corresponds to variant dbSNP:rs1110337222 PublicationsEnsembl.1
Natural variantiVAR_068828185P → L in GALCT. Corresponds to variant dbSNP:rs1110337221 PublicationEnsembl.1
Natural variantiVAR_068542185P → S in GALCT. Corresponds to variant dbSNP:rs1110338262 PublicationsEnsembl.1
Natural variantiVAR_002587188Q → R in GALCT; most common mutation; accounts for approximately 70% of GALCT alleles tested; 10% of normal galactose uridylyltransferase activity. Corresponds to variant dbSNP:rs7539157910 PublicationsEnsembl.1
Natural variantiVAR_068543192S → G in GALCT. Corresponds to variant dbSNP:rs1110338301 PublicationEnsembl.1
Natural variantiVAR_002588192S → N in GALCT. Corresponds to variant dbSNP:rs111033734Ensembl.1
Natural variantiVAR_002589194F → L in GALCT. Corresponds to variant dbSNP:rs111033726Ensembl.1
Natural variantiVAR_002590195L → P in GALCT; no enzymatic activity. Corresponds to variant dbSNP:rs1110337282 PublicationsEnsembl.1
Natural variantiVAR_002591198I → M in GALCT. Corresponds to variant dbSNP:rs111033729Ensembl.1
Natural variantiVAR_002592198I → T in GALCT. 1
Natural variantiVAR_002593199A → T in GALCT. Corresponds to variant dbSNP:rs111033730Ensembl.1
Natural variantiVAR_068544201R → C in GALCT; 2-fold decrease in activity. Corresponds to variant dbSNP:rs1110337392 PublicationsEnsembl.1
Natural variantiVAR_002594201R → H in GALCT. Corresponds to variant dbSNP:rs111033735Ensembl.1
Natural variantiVAR_002595203E → K in GALCT. Corresponds to variant dbSNP:rs111033736Ensembl.1
Natural variantiVAR_008045204R → P in GALCT. Corresponds to variant dbSNP:rs111033740Ensembl.1
Natural variantiVAR_002596209Y → C in GALCT. Corresponds to variant dbSNP:rs111033744Ensembl.1
Natural variantiVAR_002597209Y → S in GALCT. Corresponds to variant dbSNP:rs111033744Ensembl.1
Natural variantiVAR_002598212Q → H in GALCT. 1
Natural variantiVAR_002599217L → P in GALCT. Corresponds to variant dbSNP:rs111033741Ensembl.1
Natural variantiVAR_068545220E → K in GALCT; 3-fold decrease in activity. Corresponds to variant dbSNP:rs1110337472 PublicationsEnsembl.1
Natural variantiVAR_068546223R → S in GALCT; 3-fold decrease in activity. Corresponds to variant dbSNP:rs1110337502 PublicationsEnsembl.1
Natural variantiVAR_002600226L → P in GALCT. Corresponds to variant dbSNP:rs111033752Ensembl.1
Natural variantiVAR_068547227L → P in GALCT; results in no detectable protein in the soluble fraction. Corresponds to variant dbSNP:rs1110338461 PublicationEnsembl.1
Natural variantiVAR_023330229K → N in GALCT. Corresponds to variant dbSNP:rs1110337531 PublicationEnsembl.1
Natural variantiVAR_072797231R → C in GALCT. Corresponds to variant dbSNP:rs1110337491 PublicationEnsembl.1
Natural variantiVAR_002601231R → H in GALCT; 15% of normal activity. Corresponds to variant dbSNP:rs1110337542 PublicationsEnsembl.1
Natural variantiVAR_072798244P → S in GALCT. 1 Publication1
Natural variantiVAR_002602249W → R in GALCT. Corresponds to variant dbSNP:rs111033757Ensembl.1
Natural variantiVAR_002603251Y → C in GALCT. Corresponds to variant dbSNP:rs111033755Ensembl.1
Natural variantiVAR_002604251Y → S in GALCT. Corresponds to variant dbSNP:rs1110337551 PublicationEnsembl.1
Natural variantiVAR_023331252Q → H in GALCT. Corresponds to variant dbSNP:rs1110337691 PublicationEnsembl.1
Natural variantiVAR_002605258R → C in GALCT. Corresponds to variant dbSNP:rs368166217Ensembl.1
Natural variantiVAR_068548259R → Q in GALCT; loss of activity. 1 Publication1
Natural variantiVAR_002606259R → W in GALCT; mild. Corresponds to variant dbSNP:rs786204763Ensembl.1
Natural variantiVAR_002607262R → P in GALCT. Corresponds to variant dbSNP:rs111033763Ensembl.1
Natural variantiVAR_008046263Missing in GALCT. 1
Natural variantiVAR_068549265P → A in GALCT. Corresponds to variant dbSNP:rs1110337641 PublicationEnsembl.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:rs111033766Ensembl.1
Natural variantiVAR_068550278I → N in GALCT; 18-fold decrease in activity. Corresponds to variant dbSNP:rs1110337782 PublicationsEnsembl.1
Natural variantiVAR_002608282L → V in GALCT. Corresponds to variant dbSNP:rs111033772Ensembl.1
Natural variantiVAR_002609285K → N in GALCT; severe; 25-40% of the European population. Corresponds to variant dbSNP:rs1110337734 PublicationsEnsembl.1
Natural variantiVAR_068829285K → R in GALCT. Corresponds to variant dbSNP:rs3675432631 PublicationEnsembl.1
Natural variantiVAR_068551289L → F in GALCT; 3-fold decrease in activity. Corresponds to variant dbSNP:rs1110337742 PublicationsEnsembl.1
Natural variantiVAR_002610289L → R in GALCT. Corresponds to variant dbSNP:rs111033775Ensembl.1
Natural variantiVAR_002611291E → K in GALCT. Corresponds to variant dbSNP:rs111033780Ensembl.1
Natural variantiVAR_068552291E → V in GALCT; 2-fold decrease in activity. Corresponds to variant dbSNP:rs1110338411 PublicationEnsembl.1
Natural variantiVAR_008048294F → Y in GALCT. Corresponds to variant dbSNP:rs1110337811 PublicationEnsembl.1
Natural variantiVAR_002612308E → K in GALCT. Corresponds to variant dbSNP:rs111033784Ensembl.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. Corresponds to variant dbSNP:rs207007410 PublicationsEnsembl.1
Natural variantiVAR_002614317Q → H in GALCT. Corresponds to variant dbSNP:rs111033787Ensembl.1
Natural variantiVAR_002615317Q → R in GALCT. Corresponds to variant dbSNP:rs111033786Ensembl.1
Natural variantiVAR_002616319H → Q in GALCT. Corresponds to variant dbSNP:rs1110337923 PublicationsEnsembl.1
Natural variantiVAR_002617320A → T in GALCT. Corresponds to variant dbSNP:rs1110337951 PublicationEnsembl.1
Natural variantiVAR_002618323Y → D in GALCT. Corresponds to variant dbSNP:rs111033796Ensembl.1
Natural variantiVAR_002619323Y → H in GALCT. Corresponds to variant dbSNP:rs111033796Ensembl.1
Natural variantiVAR_002620324P → S in GALCT. Corresponds to variant dbSNP:rs111033798Ensembl.1
Natural variantiVAR_002621325P → L in GALCT. Corresponds to variant dbSNP:rs1110337941 PublicationEnsembl.1
Natural variantiVAR_068553327L → P in GALCT; results in no detectable protein in the soluble fraction. Corresponds to variant dbSNP:rs1110338321 PublicationEnsembl.1
Natural variantiVAR_002622328R → H in GALCT. Corresponds to variant dbSNP:rs111033802Ensembl.1
Natural variantiVAR_002623329S → F in GALCT. Corresponds to variant dbSNP:rs1110338031 PublicationEnsembl.1
Natural variantiVAR_002624330A → V in GALCT; mild. Corresponds to variant dbSNP:rs1110338041 PublicationEnsembl.1
Natural variantiVAR_002625333R → G in GALCT. Corresponds to variant dbSNP:rs111033800Ensembl.1
Natural variantiVAR_068830333R → L in GALCT. Corresponds to variant dbSNP:rs1110338081 PublicationEnsembl.1
Natural variantiVAR_002626333R → Q in GALCT. Corresponds to variant dbSNP:rs111033808Ensembl.1
Natural variantiVAR_002627333R → W in GALCT; no enzymatic activity. Corresponds to variant dbSNP:rs1110338003 PublicationsEnsembl.1
Natural variantiVAR_002628334K → R in GALCT. Corresponds to variant dbSNP:rs111033809Ensembl.1
Natural variantiVAR_002629336M → L in GALCT. Corresponds to variant dbSNP:rs111033810Ensembl.1
Natural variantiVAR_068554342L → I in GALCT. Corresponds to variant dbSNP:rs1110338121 PublicationEnsembl.1
Natural variantiVAR_002630344Q → K in GALCT. Corresponds to variant dbSNP:rs1110338141 PublicationEnsembl.1
Natural variantiVAR_068555345A → D in GALCT. Corresponds to variant dbSNP:rs1110338151 PublicationEnsembl.1
Natural variantiVAR_002631350T → A in GALCT; mild. Corresponds to variant dbSNP:rs111033817Ensembl.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi2592.
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.

PTM databases

iPTMnetiP07902.
PhosphoSitePlusiP07902.

Expressioni

Gene expression databases

BgeeiENSG00000213930.
ExpressionAtlasiP07902. baseline and differential.
GenevisibleiP07902. HS.

Organism-specific databases

HPAiHPA004868.
HPA005729.

Interactioni

Subunit structurei

Homodimer.Curated

Binary interactionsi

WithEntry#Exp.IntActNotes
TNK2Q079123EBI-750827,EBI-603457

Protein-protein interaction databases

BioGridi108864. 7 interactors.
IntActiP07902. 4 interactors.
STRINGi9606.ENSP00000368119.

Structurei

Secondary structure

1379
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni26 – 28Combined sources3
Beta strandi31 – 35Combined sources5
Turni36 – 39Combined sources4
Beta strandi40 – 44Combined sources5
Beta strandi93 – 96Combined sources4
Beta strandi119 – 121Combined sources3
Beta strandi124 – 131Combined sources8
Helixi139 – 141Combined sources3
Helixi144 – 162Combined sources19
Beta strandi166 – 175Combined sources10
Helixi176 – 178Combined sources3
Beta strandi184 – 194Combined sources11
Helixi197 – 213Combined sources17
Helixi217 – 228Combined sources12
Beta strandi232 – 235Combined sources4
Beta strandi237 – 242Combined sources6
Beta strandi253 – 259Combined sources7
Helixi264 – 266Combined sources3
Helixi269 – 289Combined sources21
Beta strandi296 – 301Combined sources6
Helixi306 – 308Combined sources3
Beta strandi319 – 323Combined sources5
Beta strandi328 – 331Combined sources4
Helixi339 – 342Combined sources4
Beta strandi345 – 349Combined sources5
Helixi351 – 360Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1R3Amodel-A/B21-379[»]
5IN3X-ray1.73A/B1-379[»]
ProteinModelPortaliP07902.
SMRiP07902.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

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

Family and domain databases

Gene3Di3.30.428.10. 2 hits.
InterProiIPR001937. GalP_UDPtransf1.
IPR019779. GalP_UDPtransf1_His-AS.
IPR005850. GalP_Utransf_C.
IPR005849. GalP_Utransf_N.
IPR011146. HIT-like.
[Graphical view]
PANTHERiPTHR11943. PTHR11943. 1 hit.
PfamiPF02744. GalP_UDP_tr_C. 1 hit.
PF01087. GalP_UDP_transf. 1 hit.
[Graphical view]
PIRSFiPIRSF000808. GalT. 1 hit.
SUPFAMiSSF54197. SSF54197. 2 hits.
TIGRFAMsiTIGR00209. galT_1. 1 hit.
PROSITEiPS00117. GAL_P_UDP_TRANSF_I. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

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. Corresponds to variant dbSNP:rs1110336371 PublicationEnsembl.1
Natural variantiVAR_06853223T → A in GALCT. Corresponds to variant dbSNP:rs1110336351 PublicationEnsembl.1
Natural variantiVAR_06853328D → H in GALCT. Corresponds to variant dbSNP:rs1110336361 PublicationEnsembl.1
Natural variantiVAR_00254828D → Y in GALCT. Corresponds to variant dbSNP:rs1110336361 PublicationEnsembl.1
Natural variantiVAR_00254932I → N in GALCT; mild. Corresponds to variant dbSNP:rs1110336441 PublicationEnsembl.1
Natural variantiVAR_06853433R → H in GALCT. Corresponds to variant dbSNP:rs1110338291 PublicationEnsembl.1
Natural variantiVAR_07279333R → P in GALCT. 1 Publication1
Natural variantiVAR_06853534Y → N in GALCT; affects protein stability. Corresponds to variant dbSNP:rs1110338362 PublicationsEnsembl.1
Natural variantiVAR_00255038Q → P in GALCT. Corresponds to variant dbSNP:rs1110336461 PublicationEnsembl.1
Natural variantiVAR_00255144V → L in GALCT. Corresponds to variant dbSNP:rs111033647Ensembl.1
Natural variantiVAR_00255244V → M in GALCT; reduced enzyme activity. Corresponds to variant dbSNP:rs1110336471 PublicationEnsembl.1
Natural variantiVAR_00804245S → L in GALCT. Corresponds to variant dbSNP:rs111033652Ensembl.1
Natural variantiVAR_00255351R → L in GALCT. Corresponds to variant dbSNP:rs111033648Ensembl.1
Natural variantiVAR_02332851R → Q in GALCT. Corresponds to variant dbSNP:rs1110336481 PublicationEnsembl.1
Natural variantiVAR_00255455G → C in GALCT. Corresponds to variant dbSNP:rs1110336541 PublicationEnsembl.1
Natural variantiVAR_00255562L → M. Corresponds to variant dbSNP:rs18004611 PublicationEnsembl.1
Natural variantiVAR_00255667R → C in GALCT. Corresponds to variant dbSNP:rs1110336581 PublicationEnsembl.1
Natural variantiVAR_00255774L → P in GALCT; reduced enzyme activity. Corresponds to variant dbSNP:rs1110336631 PublicationEnsembl.1
Natural variantiVAR_00255881A → T in GALCT. Corresponds to variant dbSNP:rs111033665Ensembl.1
Natural variantiVAR_07279483G → V in GALCT. 1 Publication1
Natural variantiVAR_06882489Y → H in GALCT. Corresponds to variant dbSNP:rs1110336661 PublicationEnsembl.1
Natural variantiVAR_00255997N → S in GALCT. Corresponds to variant dbSNP:rs111033669Ensembl.1
Natural variantiVAR_00256098D → N in GALCT. Corresponds to variant dbSNP:rs111033670Ensembl.1
Natural variantiVAR_068825103Q → R in GALCT. Corresponds to variant dbSNP:rs3675432521 PublicationEnsembl.1
Natural variantiVAR_068536112S → R in GALCT. 1 Publication1
Natural variantiVAR_002561113D → N in GALCT. Corresponds to variant dbSNP:rs111033677Ensembl.1
Natural variantiVAR_002562114H → L in GALCT. Corresponds to variant dbSNP:rs111033678Ensembl.1
Natural variantiVAR_002563117F → S in GALCT. Corresponds to variant dbSNP:rs111033679Ensembl.1
Natural variantiVAR_002564118Q → H in GALCT. Corresponds to variant dbSNP:rs111033673Ensembl.1
Natural variantiVAR_002565123R → G in GALCT. Corresponds to variant dbSNP:rs1110336741 PublicationEnsembl.1
Natural variantiVAR_002566123R → Q in GALCT. Corresponds to variant dbSNP:rs111033675Ensembl.1
Natural variantiVAR_002567125V → A in GALCT. Corresponds to variant dbSNP:rs111033680Ensembl.1
Natural variantiVAR_002568127K → E in GALCT. Corresponds to variant dbSNP:rs111033682Ensembl.1
Natural variantiVAR_008043129M → T in GALCT. Corresponds to variant dbSNP:rs1110336831 PublicationEnsembl.1
Natural variantiVAR_002569130C → Y in GALCT. Corresponds to variant dbSNP:rs367543255Ensembl.1
Natural variantiVAR_068537132H → Q in GALCT; affects protein stability. Corresponds to variant dbSNP:rs3675432561 PublicationEnsembl.1
Natural variantiVAR_002570132H → Y in GALCT. Corresponds to variant dbSNP:rs111033688Ensembl.1
Natural variantiVAR_002571135S → L in GALCT; frequent mutation in African Americans; about 5% of normal galactose uridylyltransferase activity. Corresponds to variant dbSNP:rs1110336905 PublicationsEnsembl.1
Natural variantiVAR_023329135S → W in GALCT. Corresponds to variant dbSNP:rs1110336901 PublicationEnsembl.1
Natural variantiVAR_002572138T → M in GALCT; mild. Corresponds to variant dbSNP:rs1110336861 PublicationEnsembl.1
Natural variantiVAR_002573139L → P in GALCT. Corresponds to variant dbSNP:rs111033687Ensembl.1
Natural variantiVAR_002574142M → K in GALCT; 4% of normal activity. Corresponds to variant dbSNP:rs1110336952 PublicationsEnsembl.1
Natural variantiVAR_072795142M → T in GALCT. Corresponds to variant dbSNP:rs1110336951 PublicationEnsembl.1
Natural variantiVAR_002575142M → V in GALCT. Corresponds to variant dbSNP:rs111033692Ensembl.1
Natural variantiVAR_002576143S → L in GALCT. Corresponds to variant dbSNP:rs1110336971 PublicationEnsembl.1
Natural variantiVAR_002577148R → G in GALCT. Corresponds to variant dbSNP:rs111033693Ensembl.1
Natural variantiVAR_002578148R → Q in GALCT. Corresponds to variant dbSNP:rs1110336941 PublicationEnsembl.1
Natural variantiVAR_002579148R → W in GALCT; unstable protein. Corresponds to variant dbSNP:rs1110336931 PublicationEnsembl.1
Natural variantiVAR_002580150V → L in GALCT. Corresponds to variant dbSNP:rs1110336991 PublicationEnsembl.1
Natural variantiVAR_002581151V → A in GALCT; approximatively 3% of normal activity. Corresponds to variant dbSNP:rs1110337011 PublicationEnsembl.1
Natural variantiVAR_002582154W → G in GALCT. Corresponds to variant dbSNP:rs111033702Ensembl.1
Natural variantiVAR_068826166P → A in GALCT. Corresponds to variant dbSNP:rs3675432571 PublicationEnsembl.1
Natural variantiVAR_008044167W → R in GALCT. Corresponds to variant dbSNP:rs111033708Ensembl.1
Natural variantiVAR_068538168V → L in GALCT; loss of activity. Corresponds to variant dbSNP:rs3675432581 PublicationEnsembl.1
Natural variantiVAR_068539170I → T in GALCT; loss of activity. Corresponds to variant dbSNP:rs1110338391 PublicationEnsembl.1
Natural variantiVAR_002583171F → S in GALCT; reduced enzyme activity. Corresponds to variant dbSNP:rs1110337152 PublicationsEnsembl.1
Natural variantiVAR_072796175G → D in GALCT; reduces strongly galactose uridylyltransferase activity. Corresponds to variant dbSNP:rs1110337181 PublicationEnsembl.1
Natural variantiVAR_002584179G → D in GALCT. Corresponds to variant dbSNP:rs111033720Ensembl.1
Natural variantiVAR_068540181S → A in GALCT. Corresponds to variant dbSNP:rs1110338281 PublicationEnsembl.1
Natural variantiVAR_068827181S → F in GALCT. Corresponds to variant dbSNP:rs3675432591 PublicationEnsembl.1
Natural variantiVAR_002585183P → T in GALCT. Corresponds to variant dbSNP:rs1110337212 PublicationsEnsembl.1
Natural variantiVAR_002586184H → Q in GALCT. Corresponds to variant dbSNP:rs1110337171 PublicationEnsembl.1
Natural variantiVAR_068541185P → H in GALCT; loss of activity. Corresponds to variant dbSNP:rs1110337222 PublicationsEnsembl.1
Natural variantiVAR_068828185P → L in GALCT. Corresponds to variant dbSNP:rs1110337221 PublicationEnsembl.1
Natural variantiVAR_068542185P → S in GALCT. Corresponds to variant dbSNP:rs1110338262 PublicationsEnsembl.1
Natural variantiVAR_002587188Q → R in GALCT; most common mutation; accounts for approximately 70% of GALCT alleles tested; 10% of normal galactose uridylyltransferase activity. Corresponds to variant dbSNP:rs7539157910 PublicationsEnsembl.1
Natural variantiVAR_068543192S → G in GALCT. Corresponds to variant dbSNP:rs1110338301 PublicationEnsembl.1
Natural variantiVAR_002588192S → N in GALCT. Corresponds to variant dbSNP:rs111033734Ensembl.1
Natural variantiVAR_002589194F → L in GALCT. Corresponds to variant dbSNP:rs111033726Ensembl.1
Natural variantiVAR_002590195L → P in GALCT; no enzymatic activity. Corresponds to variant dbSNP:rs1110337282 PublicationsEnsembl.1
Natural variantiVAR_002591198I → M in GALCT. Corresponds to variant dbSNP:rs111033729Ensembl.1
Natural variantiVAR_002592198I → T in GALCT. 1
Natural variantiVAR_002593199A → T in GALCT. Corresponds to variant dbSNP:rs111033730Ensembl.1
Natural variantiVAR_068544201R → C in GALCT; 2-fold decrease in activity. Corresponds to variant dbSNP:rs1110337392 PublicationsEnsembl.1
Natural variantiVAR_002594201R → H in GALCT. Corresponds to variant dbSNP:rs111033735Ensembl.1
Natural variantiVAR_002595203E → K in GALCT. Corresponds to variant dbSNP:rs111033736Ensembl.1
Natural variantiVAR_008045204R → P in GALCT. Corresponds to variant dbSNP:rs111033740Ensembl.1
Natural variantiVAR_002596209Y → C in GALCT. Corresponds to variant dbSNP:rs111033744Ensembl.1
Natural variantiVAR_002597209Y → S in GALCT. Corresponds to variant dbSNP:rs111033744Ensembl.1
Natural variantiVAR_002598212Q → H in GALCT. 1
Natural variantiVAR_002599217L → P in GALCT. Corresponds to variant dbSNP:rs111033741Ensembl.1
Natural variantiVAR_068545220E → K in GALCT; 3-fold decrease in activity. Corresponds to variant dbSNP:rs1110337472 PublicationsEnsembl.1
Natural variantiVAR_068546223R → S in GALCT; 3-fold decrease in activity. Corresponds to variant dbSNP:rs1110337502 PublicationsEnsembl.1
Natural variantiVAR_002600226L → P in GALCT. Corresponds to variant dbSNP:rs111033752Ensembl.1
Natural variantiVAR_068547227L → P in GALCT; results in no detectable protein in the soluble fraction. Corresponds to variant dbSNP:rs1110338461 PublicationEnsembl.1
Natural variantiVAR_023330229K → N in GALCT. Corresponds to variant dbSNP:rs1110337531 PublicationEnsembl.1
Natural variantiVAR_072797231R → C in GALCT. Corresponds to variant dbSNP:rs1110337491 PublicationEnsembl.1
Natural variantiVAR_002601231R → H in GALCT; 15% of normal activity. Corresponds to variant dbSNP:rs1110337542 PublicationsEnsembl.1
Natural variantiVAR_072798244P → S in GALCT. 1 Publication1
Natural variantiVAR_002602249W → R in GALCT. Corresponds to variant dbSNP:rs111033757Ensembl.1
Natural variantiVAR_002603251Y → C in GALCT. Corresponds to variant dbSNP:rs111033755Ensembl.1
Natural variantiVAR_002604251Y → S in GALCT. Corresponds to variant dbSNP:rs1110337551 PublicationEnsembl.1
Natural variantiVAR_023331252Q → H in GALCT. Corresponds to variant dbSNP:rs1110337691 PublicationEnsembl.1
Natural variantiVAR_002605258R → C in GALCT. Corresponds to variant dbSNP:rs368166217Ensembl.1
Natural variantiVAR_068548259R → Q in GALCT; loss of activity. 1 Publication1
Natural variantiVAR_002606259R → W in GALCT; mild. Corresponds to variant dbSNP:rs786204763Ensembl.1
Natural variantiVAR_002607262R → P in GALCT. Corresponds to variant dbSNP:rs111033763Ensembl.1
Natural variantiVAR_008046263Missing in GALCT. 1
Natural variantiVAR_068549265P → A in GALCT. Corresponds to variant dbSNP:rs1110337641 PublicationEnsembl.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:rs111033766Ensembl.1
Natural variantiVAR_068550278I → N in GALCT; 18-fold decrease in activity. Corresponds to variant dbSNP:rs1110337782 PublicationsEnsembl.1
Natural variantiVAR_002608282L → V in GALCT. Corresponds to variant dbSNP:rs111033772Ensembl.1
Natural variantiVAR_002609285K → N in GALCT; severe; 25-40% of the European population. Corresponds to variant dbSNP:rs1110337734 PublicationsEnsembl.1
Natural variantiVAR_068829285K → R in GALCT. Corresponds to variant dbSNP:rs3675432631 PublicationEnsembl.1
Natural variantiVAR_068551289L → F in GALCT; 3-fold decrease in activity. Corresponds to variant dbSNP:rs1110337742 PublicationsEnsembl.1
Natural variantiVAR_002610289L → R in GALCT. Corresponds to variant dbSNP:rs111033775Ensembl.1
Natural variantiVAR_002611291E → K in GALCT. Corresponds to variant dbSNP:rs111033780Ensembl.1
Natural variantiVAR_068552291E → V in GALCT; 2-fold decrease in activity. Corresponds to variant dbSNP:rs1110338411 PublicationEnsembl.1
Natural variantiVAR_008048294F → Y in GALCT. Corresponds to variant dbSNP:rs1110337811 PublicationEnsembl.1
Natural variantiVAR_002612308E → K in GALCT. Corresponds to variant dbSNP:rs111033784Ensembl.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. Corresponds to variant dbSNP:rs207007410 PublicationsEnsembl.1
Natural variantiVAR_002614317Q → H in GALCT. Corresponds to variant dbSNP:rs111033787Ensembl.1
Natural variantiVAR_002615317Q → R in GALCT. Corresponds to variant dbSNP:rs111033786Ensembl.1
Natural variantiVAR_002616319H → Q in GALCT. Corresponds to variant dbSNP:rs1110337923 PublicationsEnsembl.1
Natural variantiVAR_002617320A → T in GALCT. Corresponds to variant dbSNP:rs1110337951 PublicationEnsembl.1
Natural variantiVAR_002618323Y → D in GALCT. Corresponds to variant dbSNP:rs111033796Ensembl.1
Natural variantiVAR_002619323Y → H in GALCT. Corresponds to variant dbSNP:rs111033796Ensembl.1
Natural variantiVAR_002620324P → S in GALCT. Corresponds to variant dbSNP:rs111033798Ensembl.1
Natural variantiVAR_002621325P → L in GALCT. Corresponds to variant dbSNP:rs1110337941 PublicationEnsembl.1
Natural variantiVAR_068553327L → P in GALCT; results in no detectable protein in the soluble fraction. Corresponds to variant dbSNP:rs1110338321 PublicationEnsembl.1
Natural variantiVAR_002622328R → H in GALCT. Corresponds to variant dbSNP:rs111033802Ensembl.1
Natural variantiVAR_002623329S → F in GALCT. Corresponds to variant dbSNP:rs1110338031 PublicationEnsembl.1
Natural variantiVAR_002624330A → V in GALCT; mild. Corresponds to variant dbSNP:rs1110338041 PublicationEnsembl.1
Natural variantiVAR_002625333R → G in GALCT. Corresponds to variant dbSNP:rs111033800Ensembl.1
Natural variantiVAR_068830333R → L in GALCT. Corresponds to variant dbSNP:rs1110338081 PublicationEnsembl.1
Natural variantiVAR_002626333R → Q in GALCT. Corresponds to variant dbSNP:rs111033808Ensembl.1
Natural variantiVAR_002627333R → W in GALCT; no enzymatic activity. Corresponds to variant dbSNP:rs1110338003 PublicationsEnsembl.1
Natural variantiVAR_002628334K → R in GALCT. Corresponds to variant dbSNP:rs111033809Ensembl.1
Natural variantiVAR_002629336M → L in GALCT. Corresponds to variant dbSNP:rs111033810Ensembl.1
Natural variantiVAR_068554342L → I in GALCT. Corresponds to variant dbSNP:rs1110338121 PublicationEnsembl.1
Natural variantiVAR_002630344Q → K in GALCT. Corresponds to variant dbSNP:rs1110338141 PublicationEnsembl.1
Natural variantiVAR_068555345A → D in GALCT. Corresponds to variant dbSNP:rs1110338151 PublicationEnsembl.1
Natural variantiVAR_002631350T → A in GALCT; mild. Corresponds to variant dbSNP:rs111033817Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0456041 – 17MSRSG…QASEA → MTLSTLCVLGPSEPTES in isoform 2. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_04560518 – 126Missing in isoform 2. 1 Publication