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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...

Keywords - Molecular functioni

Nucleotidyltransferase, Transferase

Keywords - Biological processi

Carbohydrate metabolism, Galactose metabolism

Keywords - Ligandi

Iron, 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
Complete GO annotation...

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. 1 PublicationCorresponds to variant rs111033637dbSNPEnsembl.1
Natural variantiVAR_06853223T → A in GALCT. 1 PublicationCorresponds to variant rs111033635dbSNPEnsembl.1
Natural variantiVAR_06853328D → H in GALCT. 1 PublicationCorresponds to variant rs111033636dbSNPEnsembl.1
Natural variantiVAR_00254828D → Y in GALCT. 1 PublicationCorresponds to variant rs111033636dbSNPEnsembl.1
Natural variantiVAR_00254932I → N in GALCT; mild. 1 PublicationCorresponds to variant rs111033644dbSNPEnsembl.1
Natural variantiVAR_06853433R → H in GALCT. 1 PublicationCorresponds to variant rs111033829dbSNPEnsembl.1
Natural variantiVAR_07279333R → P in GALCT. 1 Publication1
Natural variantiVAR_06853534Y → N in GALCT; affects protein stability. 2 PublicationsCorresponds to variant rs111033836dbSNPEnsembl.1
Natural variantiVAR_00255038Q → P in GALCT. 1 PublicationCorresponds to variant rs111033646dbSNPEnsembl.1
Natural variantiVAR_00255144V → L in GALCT. Corresponds to variant rs111033647dbSNPEnsembl.1
Natural variantiVAR_00255244V → M in GALCT; reduced enzyme activity. 1 PublicationCorresponds to variant rs111033647dbSNPEnsembl.1
Natural variantiVAR_00804245S → L in GALCT. Corresponds to variant rs111033652dbSNPEnsembl.1
Natural variantiVAR_00255351R → L in GALCT. Corresponds to variant rs111033648dbSNPEnsembl.1
Natural variantiVAR_02332851R → Q in GALCT. 1 PublicationCorresponds to variant rs111033648dbSNPEnsembl.1
Natural variantiVAR_00255455G → C in GALCT. 1 PublicationCorresponds to variant rs111033654dbSNPEnsembl.1
Natural variantiVAR_00255667R → C in GALCT. 1 PublicationCorresponds to variant rs111033658dbSNPEnsembl.1
Natural variantiVAR_00255774L → P in GALCT; reduced enzyme activity. 1 PublicationCorresponds to variant rs111033663dbSNPEnsembl.1
Natural variantiVAR_00255881A → T in GALCT. Corresponds to variant rs111033665dbSNPEnsembl.1
Natural variantiVAR_07279483G → V in GALCT. 1 Publication1
Natural variantiVAR_06882489Y → H in GALCT. 1 PublicationCorresponds to variant rs111033666dbSNPEnsembl.1
Natural variantiVAR_00255997N → S in GALCT. Corresponds to variant rs111033669dbSNPEnsembl.1
Natural variantiVAR_00256098D → N in GALCT. Corresponds to variant rs111033670dbSNPEnsembl.1
Natural variantiVAR_068825103Q → R in GALCT. 1 PublicationCorresponds to variant rs367543252dbSNPEnsembl.1
Natural variantiVAR_068536112S → R in GALCT. 1 Publication1
Natural variantiVAR_002561113D → N in GALCT. Corresponds to variant rs111033677dbSNPEnsembl.1
Natural variantiVAR_002562114H → L in GALCT. Corresponds to variant rs111033678dbSNPEnsembl.1
Natural variantiVAR_002563117F → S in GALCT. Corresponds to variant rs111033679dbSNPEnsembl.1
Natural variantiVAR_002564118Q → H in GALCT. Corresponds to variant rs111033673dbSNPEnsembl.1
Natural variantiVAR_002565123R → G in GALCT. 1 PublicationCorresponds to variant rs111033674dbSNPEnsembl.1
Natural variantiVAR_002566123R → Q in GALCT. Corresponds to variant rs111033675dbSNPEnsembl.1
Natural variantiVAR_002567125V → A in GALCT. Corresponds to variant rs111033680dbSNPEnsembl.1
Natural variantiVAR_002568127K → E in GALCT. Corresponds to variant rs111033682dbSNPEnsembl.1
Natural variantiVAR_008043129M → T in GALCT. 1 PublicationCorresponds to variant rs111033683dbSNPEnsembl.1
Natural variantiVAR_002569130C → Y in GALCT. Corresponds to variant rs367543255dbSNPEnsembl.1
Natural variantiVAR_068537132H → Q in GALCT; affects protein stability. 1 PublicationCorresponds to variant rs367543256dbSNPEnsembl.1
Natural variantiVAR_002570132H → Y in GALCT. Corresponds to variant rs111033688dbSNPEnsembl.1
Natural variantiVAR_002571135S → L in GALCT; frequent mutation in African Americans; about 5% of normal galactose uridylyltransferase activity. 5 PublicationsCorresponds to variant rs111033690dbSNPEnsembl.1
Natural variantiVAR_023329135S → W in GALCT. 1 PublicationCorresponds to variant rs111033690dbSNPEnsembl.1
Natural variantiVAR_002572138T → M in GALCT; mild. 1 PublicationCorresponds to variant rs111033686dbSNPEnsembl.1
Natural variantiVAR_002573139L → P in GALCT. Corresponds to variant rs111033687dbSNPEnsembl.1
Natural variantiVAR_002574142M → K in GALCT; 4% of normal activity. 2 PublicationsCorresponds to variant rs111033695dbSNPEnsembl.1
Natural variantiVAR_072795142M → T in GALCT. 1 PublicationCorresponds to variant rs111033695dbSNPEnsembl.1
Natural variantiVAR_002575142M → V in GALCT. Corresponds to variant rs111033692dbSNPEnsembl.1
Natural variantiVAR_002576143S → L in GALCT. 1 PublicationCorresponds to variant rs111033697dbSNPEnsembl.1
Natural variantiVAR_002577148R → G in GALCT. Corresponds to variant rs111033693dbSNPEnsembl.1
Natural variantiVAR_002578148R → Q in GALCT. 1 PublicationCorresponds to variant rs111033694dbSNPEnsembl.1
Natural variantiVAR_002579148R → W in GALCT; unstable protein. 1 PublicationCorresponds to variant rs111033693dbSNPEnsembl.1
Natural variantiVAR_002580150V → L in GALCT. 1 PublicationCorresponds to variant rs111033699dbSNPEnsembl.1
Natural variantiVAR_002581151V → A in GALCT; approximatively 3% of normal activity. 1 PublicationCorresponds to variant rs111033701dbSNPEnsembl.1
Natural variantiVAR_002582154W → G in GALCT. Corresponds to variant rs111033702dbSNPEnsembl.1
Natural variantiVAR_068826166P → A in GALCT. 1 PublicationCorresponds to variant rs367543257dbSNPEnsembl.1
Natural variantiVAR_008044167W → R in GALCT. Corresponds to variant rs111033708dbSNPEnsembl.1
Natural variantiVAR_068538168V → L in GALCT; loss of activity. 1 PublicationCorresponds to variant rs367543258dbSNPEnsembl.1
Natural variantiVAR_068539170I → T in GALCT; loss of activity. 1 PublicationCorresponds to variant rs111033839dbSNPEnsembl.1
Natural variantiVAR_002583171F → S in GALCT; reduced enzyme activity. 2 PublicationsCorresponds to variant rs111033715dbSNPEnsembl.1
Natural variantiVAR_072796175G → D in GALCT; reduces strongly galactose uridylyltransferase activity. 1 PublicationCorresponds to variant rs111033718dbSNPEnsembl.1
Natural variantiVAR_002584179G → D in GALCT. Corresponds to variant rs111033720dbSNPEnsembl.1
Natural variantiVAR_068540181S → A in GALCT. 1 PublicationCorresponds to variant rs111033828dbSNPEnsembl.1
Natural variantiVAR_068827181S → F in GALCT. 1 PublicationCorresponds to variant rs367543259dbSNPEnsembl.1
Natural variantiVAR_002585183P → T in GALCT. 2 PublicationsCorresponds to variant rs111033721dbSNPEnsembl.1
Natural variantiVAR_002586184H → Q in GALCT. 1 PublicationCorresponds to variant rs111033717dbSNPEnsembl.1
Natural variantiVAR_068541185P → H in GALCT; loss of activity. 2 PublicationsCorresponds to variant rs111033722dbSNPEnsembl.1
Natural variantiVAR_068828185P → L in GALCT. 1 PublicationCorresponds to variant rs111033722dbSNPEnsembl.1
Natural variantiVAR_068542185P → S in GALCT. 2 PublicationsCorresponds to variant rs111033826dbSNPEnsembl.1
Natural variantiVAR_002587188Q → R in GALCT; most common mutation; accounts for approximately 70% of GALCT alleles tested; 10% of normal galactose uridylyltransferase activity. 10 PublicationsCorresponds to variant rs75391579dbSNPEnsembl.1
Natural variantiVAR_068543192S → G in GALCT. 1 PublicationCorresponds to variant rs111033830dbSNPEnsembl.1
Natural variantiVAR_002588192S → N in GALCT. Corresponds to variant rs111033734dbSNPEnsembl.1
Natural variantiVAR_002589194F → L in GALCT. Corresponds to variant rs111033726dbSNPEnsembl.1
Natural variantiVAR_002590195L → P in GALCT; no enzymatic activity. 2 PublicationsCorresponds to variant rs111033728dbSNPEnsembl.1
Natural variantiVAR_002591198I → M in GALCT. Corresponds to variant rs111033729dbSNPEnsembl.1
Natural variantiVAR_002592198I → T in GALCT. 1
Natural variantiVAR_002593199A → T in GALCT. Corresponds to variant rs111033730dbSNPEnsembl.1
Natural variantiVAR_068544201R → C in GALCT; 2-fold decrease in activity. 2 PublicationsCorresponds to variant rs111033739dbSNPEnsembl.1
Natural variantiVAR_002594201R → H in GALCT. Corresponds to variant rs111033735dbSNPEnsembl.1
Natural variantiVAR_002595203E → K in GALCT. Corresponds to variant rs111033736dbSNPEnsembl.1
Natural variantiVAR_008045204R → P in GALCT. Corresponds to variant rs111033740dbSNPEnsembl.1
Natural variantiVAR_002596209Y → C in GALCT. Corresponds to variant rs111033744dbSNPEnsembl.1
Natural variantiVAR_002597209Y → S in GALCT. Corresponds to variant rs111033744dbSNPEnsembl.1
Natural variantiVAR_002598212Q → H in GALCT. 1
Natural variantiVAR_002599217L → P in GALCT. Corresponds to variant rs111033741dbSNPEnsembl.1
Natural variantiVAR_068545220E → K in GALCT; 3-fold decrease in activity. 2 PublicationsCorresponds to variant rs111033747dbSNPEnsembl.1
Natural variantiVAR_068546223R → S in GALCT; 3-fold decrease in activity. 2 PublicationsCorresponds to variant rs111033750dbSNPEnsembl.1
Natural variantiVAR_002600226L → P in GALCT. Corresponds to variant rs111033752dbSNPEnsembl.1
Natural variantiVAR_068547227L → P in GALCT; results in no detectable protein in the soluble fraction. 1 PublicationCorresponds to variant rs111033846dbSNPEnsembl.1
Natural variantiVAR_023330229K → N in GALCT. 1 PublicationCorresponds to variant rs111033753dbSNPEnsembl.1
Natural variantiVAR_072797231R → C in GALCT. 1 PublicationCorresponds to variant rs111033749dbSNPEnsembl.1
Natural variantiVAR_002601231R → H in GALCT; 15% of normal activity. 2 PublicationsCorresponds to variant rs111033754dbSNPEnsembl.1
Natural variantiVAR_072798244P → S in GALCT. 1 Publication1
Natural variantiVAR_002602249W → R in GALCT. Corresponds to variant rs111033757dbSNPEnsembl.1
Natural variantiVAR_002603251Y → C in GALCT. Corresponds to variant rs111033755dbSNPEnsembl.1
Natural variantiVAR_002604251Y → S in GALCT. 1 PublicationCorresponds to variant rs111033755dbSNPEnsembl.1
Natural variantiVAR_023331252Q → H in GALCT. 1 PublicationCorresponds to variant rs111033769dbSNPEnsembl.1
Natural variantiVAR_002605258R → C in GALCT. Corresponds to variant rs368166217dbSNPEnsembl.1
Natural variantiVAR_068548259R → Q in GALCT; loss of activity. 1 Publication1
Natural variantiVAR_002606259R → W in GALCT; mild. Corresponds to variant rs786204763dbSNPEnsembl.1
Natural variantiVAR_002607262R → P in GALCT. Corresponds to variant rs111033763dbSNPEnsembl.1
Natural variantiVAR_008046263Missing in GALCT. 1
Natural variantiVAR_068549265P → A in GALCT. 1 PublicationCorresponds to variant rs111033764dbSNPEnsembl.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 rs111033766dbSNPEnsembl.1
Natural variantiVAR_068550278I → N in GALCT; 18-fold decrease in activity. 2 PublicationsCorresponds to variant rs111033778dbSNPEnsembl.1
Natural variantiVAR_002608282L → V in GALCT. Corresponds to variant rs111033772dbSNPEnsembl.1
Natural variantiVAR_002609285K → N in GALCT; severe; 25-40% of the European population. 4 PublicationsCorresponds to variant rs111033773dbSNPEnsembl.1
Natural variantiVAR_068829285K → R in GALCT. 1 PublicationCorresponds to variant rs367543263dbSNPEnsembl.1
Natural variantiVAR_068551289L → F in GALCT; 3-fold decrease in activity. 2 PublicationsCorresponds to variant rs111033774dbSNPEnsembl.1
Natural variantiVAR_002610289L → R in GALCT. Corresponds to variant rs111033775dbSNPEnsembl.1
Natural variantiVAR_002611291E → K in GALCT. Corresponds to variant rs111033780dbSNPEnsembl.1
Natural variantiVAR_068552291E → V in GALCT; 2-fold decrease in activity. 1 PublicationCorresponds to variant rs111033841dbSNPEnsembl.1
Natural variantiVAR_008048294F → Y in GALCT. 1 PublicationCorresponds to variant rs111033781dbSNPEnsembl.1
Natural variantiVAR_002612308E → K in GALCT. Corresponds to variant rs111033784dbSNPEnsembl.1
Natural variantiVAR_002613314N → D in GALCT; Duarte; exists in two different types D-1 with normal or increased activity and D-2 with an activity reduced to about 35-45% of normal. 10 PublicationsCorresponds to variant rs2070074dbSNPEnsembl.1
Natural variantiVAR_002614317Q → H in GALCT. Corresponds to variant rs111033787dbSNPEnsembl.1
Natural variantiVAR_002615317Q → R in GALCT. Corresponds to variant rs111033786dbSNPEnsembl.1
Natural variantiVAR_002616319H → Q in GALCT. 3 PublicationsCorresponds to variant rs111033792dbSNPEnsembl.1
Natural variantiVAR_002617320A → T in GALCT. 1 PublicationCorresponds to variant rs111033795dbSNPEnsembl.1
Natural variantiVAR_002618323Y → D in GALCT. Corresponds to variant rs111033796dbSNPEnsembl.1
Natural variantiVAR_002619323Y → H in GALCT. Corresponds to variant rs111033796dbSNPEnsembl.1
Natural variantiVAR_002620324P → S in GALCT. Corresponds to variant rs111033798dbSNPEnsembl.1
Natural variantiVAR_002621325P → L in GALCT. 1 PublicationCorresponds to variant rs111033794dbSNPEnsembl.1
Natural variantiVAR_068553327L → P in GALCT; results in no detectable protein in the soluble fraction. 1 PublicationCorresponds to variant rs111033832dbSNPEnsembl.1
Natural variantiVAR_002622328R → H in GALCT. Corresponds to variant rs111033802dbSNPEnsembl.1
Natural variantiVAR_002623329S → F in GALCT. 1 PublicationCorresponds to variant rs111033803dbSNPEnsembl.1
Natural variantiVAR_002624330A → V in GALCT; mild. 1 PublicationCorresponds to variant rs111033804dbSNPEnsembl.1
Natural variantiVAR_002625333R → G in GALCT. Corresponds to variant rs111033800dbSNPEnsembl.1
Natural variantiVAR_068830333R → L in GALCT. 1 PublicationCorresponds to variant rs111033808dbSNPEnsembl.1
Natural variantiVAR_002626333R → Q in GALCT. Corresponds to variant rs111033808dbSNPEnsembl.1
Natural variantiVAR_002627333R → W in GALCT; no enzymatic activity. 3 PublicationsCorresponds to variant rs111033800dbSNPEnsembl.1
Natural variantiVAR_002628334K → R in GALCT. Corresponds to variant rs111033809dbSNPEnsembl.1
Natural variantiVAR_002629336M → L in GALCT. Corresponds to variant rs111033810dbSNPEnsembl.1
Natural variantiVAR_068554342L → I in GALCT. 1 PublicationCorresponds to variant rs111033812dbSNPEnsembl.1
Natural variantiVAR_002630344Q → K in GALCT. 1 PublicationCorresponds to variant rs111033814dbSNPEnsembl.1
Natural variantiVAR_068555345A → D in GALCT. 1 PublicationCorresponds to variant rs111033815dbSNPEnsembl.1
Natural variantiVAR_002631350T → A in GALCT; mild. Corresponds to variant rs111033817dbSNPEnsembl.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. 1 PublicationCorresponds to variant rs111033637dbSNPEnsembl.1
Natural variantiVAR_06853223T → A in GALCT. 1 PublicationCorresponds to variant rs111033635dbSNPEnsembl.1
Natural variantiVAR_06853328D → H in GALCT. 1 PublicationCorresponds to variant rs111033636dbSNPEnsembl.1
Natural variantiVAR_00254828D → Y in GALCT. 1 PublicationCorresponds to variant rs111033636dbSNPEnsembl.1
Natural variantiVAR_00254932I → N in GALCT; mild. 1 PublicationCorresponds to variant rs111033644dbSNPEnsembl.1
Natural variantiVAR_06853433R → H in GALCT. 1 PublicationCorresponds to variant rs111033829dbSNPEnsembl.1
Natural variantiVAR_07279333R → P in GALCT. 1 Publication1
Natural variantiVAR_06853534Y → N in GALCT; affects protein stability. 2 PublicationsCorresponds to variant rs111033836dbSNPEnsembl.1
Natural variantiVAR_00255038Q → P in GALCT. 1 PublicationCorresponds to variant rs111033646dbSNPEnsembl.1
Natural variantiVAR_00255144V → L in GALCT. Corresponds to variant rs111033647dbSNPEnsembl.1
Natural variantiVAR_00255244V → M in GALCT; reduced enzyme activity. 1 PublicationCorresponds to variant rs111033647dbSNPEnsembl.1
Natural variantiVAR_00804245S → L in GALCT. Corresponds to variant rs111033652dbSNPEnsembl.1
Natural variantiVAR_00255351R → L in GALCT. Corresponds to variant rs111033648dbSNPEnsembl.1
Natural variantiVAR_02332851R → Q in GALCT. 1 PublicationCorresponds to variant rs111033648dbSNPEnsembl.1
Natural variantiVAR_00255455G → C in GALCT. 1 PublicationCorresponds to variant rs111033654dbSNPEnsembl.1
Natural variantiVAR_00255562L → M.1 PublicationCorresponds to variant rs1800461dbSNPEnsembl.1
Natural variantiVAR_00255667R → C in GALCT. 1 PublicationCorresponds to variant rs111033658dbSNPEnsembl.1
Natural variantiVAR_00255774L → P in GALCT; reduced enzyme activity. 1 PublicationCorresponds to variant rs111033663dbSNPEnsembl.1
Natural variantiVAR_00255881A → T in GALCT. Corresponds to variant rs111033665dbSNPEnsembl.1
Natural variantiVAR_07279483G → V in GALCT. 1 Publication1
Natural variantiVAR_06882489Y → H in GALCT. 1 PublicationCorresponds to variant rs111033666dbSNPEnsembl.1
Natural variantiVAR_00255997N → S in GALCT. Corresponds to variant rs111033669dbSNPEnsembl.1
Natural variantiVAR_00256098D → N in GALCT. Corresponds to variant rs111033670dbSNPEnsembl.1
Natural variantiVAR_068825103Q → R in GALCT. 1 PublicationCorresponds to variant rs367543252dbSNPEnsembl.1
Natural variantiVAR_068536112S → R in GALCT. 1 Publication1
Natural variantiVAR_002561113D → N in GALCT. Corresponds to variant rs111033677dbSNPEnsembl.1
Natural variantiVAR_002562114H → L in GALCT. Corresponds to variant rs111033678dbSNPEnsembl.1
Natural variantiVAR_002563117F → S in GALCT. Corresponds to variant rs111033679dbSNPEnsembl.1
Natural variantiVAR_002564118Q → H in GALCT. Corresponds to variant rs111033673dbSNPEnsembl.1
Natural variantiVAR_002565123R → G in GALCT. 1 PublicationCorresponds to variant rs111033674dbSNPEnsembl.1
Natural variantiVAR_002566123R → Q in GALCT. Corresponds to variant rs111033675dbSNPEnsembl.1
Natural variantiVAR_002567125V → A in GALCT. Corresponds to variant rs111033680dbSNPEnsembl.1
Natural variantiVAR_002568127K → E in GALCT. Corresponds to variant rs111033682dbSNPEnsembl.1
Natural variantiVAR_008043129M → T in GALCT. 1 PublicationCorresponds to variant rs111033683dbSNPEnsembl.1
Natural variantiVAR_002569130C → Y in GALCT. Corresponds to variant rs367543255dbSNPEnsembl.1
Natural variantiVAR_068537132H → Q in GALCT; affects protein stability. 1 PublicationCorresponds to variant rs367543256dbSNPEnsembl.1
Natural variantiVAR_002570132H → Y in GALCT. Corresponds to variant rs111033688dbSNPEnsembl.1
Natural variantiVAR_002571135S → L in GALCT; frequent mutation in African Americans; about 5% of normal galactose uridylyltransferase activity. 5 PublicationsCorresponds to variant rs111033690dbSNPEnsembl.1
Natural variantiVAR_023329135S → W in GALCT. 1 PublicationCorresponds to variant rs111033690dbSNPEnsembl.1
Natural variantiVAR_002572138T → M in GALCT; mild. 1 PublicationCorresponds to variant rs111033686dbSNPEnsembl.1
Natural variantiVAR_002573139L → P in GALCT. Corresponds to variant rs111033687dbSNPEnsembl.1
Natural variantiVAR_002574142M → K in GALCT; 4% of normal activity. 2 PublicationsCorresponds to variant rs111033695dbSNPEnsembl.1
Natural variantiVAR_072795142M → T in GALCT. 1 PublicationCorresponds to variant rs111033695dbSNPEnsembl.1
Natural variantiVAR_002575142M → V in GALCT. Corresponds to variant rs111033692dbSNPEnsembl.1
Natural variantiVAR_002576143S → L in GALCT. 1 PublicationCorresponds to variant rs111033697dbSNPEnsembl.1
Natural variantiVAR_002577148R → G in GALCT. Corresponds to variant rs111033693dbSNPEnsembl.1
Natural variantiVAR_002578148R → Q in GALCT. 1 PublicationCorresponds to variant rs111033694dbSNPEnsembl.1
Natural variantiVAR_002579148R → W in GALCT; unstable protein. 1 PublicationCorresponds to variant rs111033693dbSNPEnsembl.1
Natural variantiVAR_002580150V → L in GALCT. 1 PublicationCorresponds to variant rs111033699dbSNPEnsembl.1
Natural variantiVAR_002581151V → A in GALCT; approximatively 3% of normal activity. 1 PublicationCorresponds to variant rs111033701dbSNPEnsembl.1
Natural variantiVAR_002582154W → G in GALCT. Corresponds to variant rs111033702dbSNPEnsembl.1
Natural variantiVAR_068826166P → A in GALCT. 1 PublicationCorresponds to variant rs367543257dbSNPEnsembl.1
Natural variantiVAR_008044167W → R in GALCT. Corresponds to variant rs111033708dbSNPEnsembl.1
Natural variantiVAR_068538168V → L in GALCT; loss of activity. 1 PublicationCorresponds to variant rs367543258dbSNPEnsembl.1
Natural variantiVAR_068539170I → T in GALCT; loss of activity. 1 PublicationCorresponds to variant rs111033839dbSNPEnsembl.1
Natural variantiVAR_002583171F → S in GALCT; reduced enzyme activity. 2 PublicationsCorresponds to variant rs111033715dbSNPEnsembl.1
Natural variantiVAR_072796175G → D in GALCT; reduces strongly galactose uridylyltransferase activity. 1 PublicationCorresponds to variant rs111033718dbSNPEnsembl.1
Natural variantiVAR_002584179G → D in GALCT. Corresponds to variant rs111033720dbSNPEnsembl.1
Natural variantiVAR_068540181S → A in GALCT. 1 PublicationCorresponds to variant rs111033828dbSNPEnsembl.1
Natural variantiVAR_068827181S → F in GALCT. 1 PublicationCorresponds to variant rs367543259dbSNPEnsembl.1
Natural variantiVAR_002585183P → T in GALCT. 2 PublicationsCorresponds to variant rs111033721dbSNPEnsembl.1
Natural variantiVAR_002586184H → Q in GALCT. 1 PublicationCorresponds to variant rs111033717dbSNPEnsembl.1
Natural variantiVAR_068541185P → H in GALCT; loss of activity. 2 PublicationsCorresponds to variant rs111033722dbSNPEnsembl.1
Natural variantiVAR_068828185P → L in GALCT. 1 PublicationCorresponds to variant rs111033722dbSNPEnsembl.1
Natural variantiVAR_068542185P → S in GALCT. 2 PublicationsCorresponds to variant rs111033826dbSNPEnsembl.1
Natural variantiVAR_002587188Q → R in GALCT; most common mutation; accounts for approximately 70% of GALCT alleles tested; 10% of normal galactose uridylyltransferase activity. 10 PublicationsCorresponds to variant rs75391579dbSNPEnsembl.1
Natural variantiVAR_068543192S → G in GALCT. 1 PublicationCorresponds to variant rs111033830dbSNPEnsembl.1
Natural variantiVAR_002588192S → N in GALCT. Corresponds to variant rs111033734dbSNPEnsembl.1
Natural variantiVAR_002589194F → L in GALCT. Corresponds to variant rs111033726dbSNPEnsembl.1
Natural variantiVAR_002590195L → P in GALCT; no enzymatic activity. 2 PublicationsCorresponds to variant rs111033728dbSNPEnsembl.1
Natural variantiVAR_002591198I → M in GALCT. Corresponds to variant rs111033729dbSNPEnsembl.1
Natural variantiVAR_002592198I → T in GALCT. 1
Natural variantiVAR_002593199A → T in GALCT. Corresponds to variant rs111033730dbSNPEnsembl.1
Natural variantiVAR_068544201R → C in GALCT; 2-fold decrease in activity. 2 PublicationsCorresponds to variant rs111033739dbSNPEnsembl.1
Natural variantiVAR_002594201R → H in GALCT. Corresponds to variant rs111033735dbSNPEnsembl.1
Natural variantiVAR_002595203E → K in GALCT. Corresponds to variant rs111033736dbSNPEnsembl.1
Natural variantiVAR_008045204R → P in GALCT. Corresponds to variant rs111033740dbSNPEnsembl.1
Natural variantiVAR_002596209Y → C in GALCT. Corresponds to variant rs111033744dbSNPEnsembl.1
Natural variantiVAR_002597209Y → S in GALCT. Corresponds to variant rs111033744dbSNPEnsembl.1
Natural variantiVAR_002598212Q → H in GALCT. 1
Natural variantiVAR_002599217L → P in GALCT. Corresponds to variant rs111033741dbSNPEnsembl.1
Natural variantiVAR_068545220E → K in GALCT; 3-fold decrease in activity. 2 PublicationsCorresponds to variant rs111033747dbSNPEnsembl.1
Natural variantiVAR_068546223R → S in GALCT; 3-fold decrease in activity. 2 PublicationsCorresponds to variant rs111033750dbSNPEnsembl.1
Natural variantiVAR_002600226L → P in GALCT. Corresponds to variant rs111033752dbSNPEnsembl.1
Natural variantiVAR_068547227L → P in GALCT; results in no detectable protein in the soluble fraction. 1 PublicationCorresponds to variant rs111033846dbSNPEnsembl.1
Natural variantiVAR_023330229K → N in GALCT. 1 PublicationCorresponds to variant rs111033753dbSNPEnsembl.1
Natural variantiVAR_072797231R → C in GALCT. 1 PublicationCorresponds to variant rs111033749dbSNPEnsembl.1
Natural variantiVAR_002601231R → H in GALCT; 15% of normal activity. 2 PublicationsCorresponds to variant rs111033754dbSNPEnsembl.1
Natural variantiVAR_072798244P → S in GALCT. 1 Publication1
Natural variantiVAR_002602249W → R in GALCT. Corresponds to variant rs111033757dbSNPEnsembl.1
Natural variantiVAR_002603251Y → C in GALCT. Corresponds to variant rs111033755dbSNPEnsembl.1
Natural variantiVAR_002604251Y → S in GALCT. 1 PublicationCorresponds to variant rs111033755dbSNPEnsembl.1
Natural variantiVAR_023331252Q → H in GALCT. 1 PublicationCorresponds to variant rs111033769dbSNPEnsembl.1
Natural variantiVAR_002605258R → C in GALCT. Corresponds to variant rs368166217dbSNPEnsembl.1
Natural variantiVAR_068548259R → Q in GALCT; loss of activity. 1 Publication1
Natural variantiVAR_002606259R → W in GALCT; mild. Corresponds to variant rs786204763dbSNPEnsembl.1
Natural variantiVAR_002607262R → P in GALCT. Corresponds to variant rs111033763dbSNPEnsembl.1
Natural variantiVAR_008046263Missing in GALCT. 1
Natural variantiVAR_068549265P → A in GALCT. 1 PublicationCorresponds to variant rs111033764dbSNPEnsembl.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 rs111033766dbSNPEnsembl.1
Natural variantiVAR_068550278I → N in GALCT; 18-fold decrease in activity. 2 PublicationsCorresponds to variant rs111033778dbSNPEnsembl.1
Natural variantiVAR_002608282L → V in GALCT. Corresponds to variant rs111033772dbSNPEnsembl.1
Natural variantiVAR_002609285K → N in GALCT; severe; 25-40% of the European population. 4 PublicationsCorresponds to variant rs111033773dbSNPEnsembl.1
Natural variantiVAR_068829285K → R in GALCT. 1 PublicationCorresponds to variant rs367543263dbSNPEnsembl.1
Natural variantiVAR_068551289L → F in GALCT; 3-fold decrease in activity. 2 PublicationsCorresponds to variant rs111033774dbSNPEnsembl.1
Natural variantiVAR_002610289L → R in GALCT. Corresponds to variant rs111033775dbSNPEnsembl.1
Natural variantiVAR_002611291E → K in GALCT. Corresponds to variant rs111033780dbSNPEnsembl.1
Natural variantiVAR_068552291E → V in GALCT; 2-fold decrease in activity. 1 PublicationCorresponds to variant rs111033841dbSNPEnsembl.1
Natural variantiVAR_008048294F → Y in GALCT. 1 PublicationCorresponds to variant rs111033781dbSNPEnsembl.1
Natural variantiVAR_002612308E → K in GALCT. Corresponds to variant rs111033784dbSNPEnsembl.1
Natural variantiVAR_002613314N → D in GALCT; Duarte; exists in two different types D-1 with normal or increased activity and D-2 with an activity reduced to about 35-45% of normal. 10 PublicationsCorresponds to variant rs2070074dbSNPEnsembl.1
Natural variantiVAR_002614317Q → H in GALCT. Corresponds to variant rs111033787dbSNPEnsembl.1
Natural variantiVAR_002615317Q → R in GALCT. Corresponds to variant rs111033786dbSNPEnsembl.1
Natural variantiVAR_002616319H → Q in GALCT. 3 PublicationsCorresponds to variant rs111033792dbSNPEnsembl.1
Natural variantiVAR_002617320A → T in GALCT. 1 PublicationCorresponds to variant rs111033795dbSNPEnsembl.1
Natural variantiVAR_002618323Y → D in GALCT. Corresponds to variant rs111033796dbSNPEnsembl.1
Natural variantiVAR_002619323Y → H in GALCT. Corresponds to variant rs111033796dbSNPEnsembl.1
Natural variantiVAR_002620324P → S in GALCT. Corresponds to variant rs111033798dbSNPEnsembl.1
Natural variantiVAR_002621325P → L in GALCT. 1 PublicationCorresponds to variant rs111033794dbSNPEnsembl.1
Natural variantiVAR_068553327L → P in GALCT; results in no detectable protein in the soluble fraction. 1 PublicationCorresponds to variant rs111033832dbSNPEnsembl.1
Natural variantiVAR_002622328R → H in GALCT. Corresponds to variant rs111033802dbSNPEnsembl.1
Natural variantiVAR_002623329S → F in GALCT. 1 PublicationCorresponds to variant rs111033803dbSNPEnsembl.1
Natural variantiVAR_002624330A → V in GALCT; mild. 1 PublicationCorresponds to variant rs111033804dbSNPEnsembl.1
Natural variantiVAR_002625333R → G in GALCT. Corresponds to variant rs111033800dbSNPEnsembl.1
Natural variantiVAR_068830333R → L in GALCT. 1 PublicationCorresponds to variant rs111033808dbSNPEnsembl.1
Natural variantiVAR_002626333R → Q in GALCT. Corresponds to variant rs111033808dbSNPEnsembl.1
Natural variantiVAR_002627333R → W in GALCT; no enzymatic activity. 3 PublicationsCorresponds to variant rs111033800dbSNPEnsembl.1
Natural variantiVAR_002628334K → R in GALCT. Corresponds to variant rs111033809dbSNPEnsembl.1
Natural variantiVAR_002629336M → L in GALCT. Corresponds to variant rs111033810dbSNPEnsembl.1
Natural variantiVAR_068554342L → I in GALCT. 1 PublicationCorresponds to variant rs111033812dbSNPEnsembl.1
Natural variantiVAR_002630344Q → K in GALCT. 1 PublicationCorresponds to variant rs111033814dbSNPEnsembl.1
Natural variantiVAR_068555345A → D in GALCT. 1 PublicationCorresponds to variant rs111033815dbSNPEnsembl.1
Natural variantiVAR_002631350T → A in GALCT; mild. Corresponds to variant rs111033817dbSNPEnsembl.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