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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

Pathway:igalactose 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)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi75 – 751ZincPROSITE-ProRule annotation
Metal bindingi184 – 1841ZincPROSITE-ProRule annotation
Active sitei186 – 1861Tele-UMP-histidine intermediatePROSITE-ProRule annotation
Metal bindingi202 – 2021IronSequence Analysis
Metal bindingi301 – 3011IronSequence Analysis
Metal bindingi319 – 3191IronSequence Analysis
Metal bindingi321 – 3211IronSequence Analysis

GO - Molecular functioni

GO - Biological processi

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

BRENDAi2.7.7.12. 2681.
ReactomeiREACT_532. 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
ProteomesiUP000005640 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91Q → H in GALCT. 1 Publication
VAR_068531
Natural varianti23 – 231T → A in GALCT. 1 Publication
VAR_068532
Natural varianti28 – 281D → H in GALCT. 1 Publication
VAR_068533
Natural varianti28 – 281D → Y in GALCT. 1 Publication
VAR_002548
Natural varianti32 – 321I → N in GALCT; mild. 1 Publication
VAR_002549
Natural varianti33 – 331R → H in GALCT. 1 Publication
VAR_068534
Natural varianti33 – 331R → P in GALCT. 1 Publication
VAR_072793
Natural varianti34 – 341Y → N in GALCT; affects protein stability. 2 Publications
VAR_068535
Natural varianti38 – 381Q → P in GALCT. 1 Publication
VAR_002550
Natural varianti44 – 441V → L in GALCT.
VAR_002551
Natural varianti44 – 441V → M in GALCT; reduced enzyme activity. 1 Publication
VAR_002552
Natural varianti45 – 451S → L in GALCT.
VAR_008042
Natural varianti51 – 511R → L in GALCT.
VAR_002553
Natural varianti51 – 511R → Q in GALCT. 1 Publication
VAR_023328
Natural varianti55 – 551G → C in GALCT. 1 Publication
VAR_002554
Natural varianti67 – 671R → C in GALCT. 1 Publication
VAR_002556
Natural varianti74 – 741L → P in GALCT; reduced enzyme activity. 1 Publication
VAR_002557
Natural varianti81 – 811A → T in GALCT.
VAR_002558
Natural varianti83 – 831G → V in GALCT. 1 Publication
VAR_072794
Natural varianti89 – 891Y → H in GALCT. 1 Publication
VAR_068824
Natural varianti97 – 971N → S in GALCT.
VAR_002559
Natural varianti98 – 981D → N in GALCT.
VAR_002560
Natural varianti103 – 1031Q → R in GALCT. 1 Publication
VAR_068825
Natural varianti112 – 1121S → R in GALCT. 1 Publication
VAR_068536
Natural varianti113 – 1131D → N in GALCT.
VAR_002561
Natural varianti114 – 1141H → L in GALCT.
VAR_002562
Natural varianti117 – 1171F → S in GALCT.
VAR_002563
Natural varianti118 – 1181Q → H in GALCT.
VAR_002564
Natural varianti123 – 1231R → G in GALCT. 1 Publication
VAR_002565
Natural varianti123 – 1231R → Q in GALCT.
VAR_002566
Natural varianti125 – 1251V → A in GALCT.
VAR_002567
Natural varianti127 – 1271K → E in GALCT.
VAR_002568
Natural varianti129 – 1291M → T in GALCT. 1 Publication
VAR_008043
Natural varianti130 – 1301C → Y in GALCT.
VAR_002569
Natural varianti132 – 1321H → Q in GALCT; affects protein stability. 1 Publication
VAR_068537
Natural varianti132 – 1321H → Y in GALCT.
VAR_002570
Natural varianti135 – 1351S → L in GALCT; frequent mutation in African Americans; about 5% of normal galactose uridylyltransferase activity. 5 Publications
Corresponds to variant rs111033690 [ dbSNP | Ensembl ].
VAR_002571
Natural varianti135 – 1351S → W in GALCT. 1 Publication
Corresponds to variant rs111033690 [ dbSNP | Ensembl ].
VAR_023329
Natural varianti138 – 1381T → M in GALCT; mild. 1 Publication
VAR_002572
Natural varianti139 – 1391L → P in GALCT.
VAR_002573
Natural varianti142 – 1421M → K in GALCT; 4% of normal activity. 2 Publications
VAR_002574
Natural varianti142 – 1421M → T in GALCT. 1 Publication
VAR_072795
Natural varianti142 – 1421M → V in GALCT.
VAR_002575
Natural varianti143 – 1431S → L in GALCT. 1 Publication
VAR_002576
Natural varianti148 – 1481R → G in GALCT.
VAR_002577
Natural varianti148 – 1481R → Q in GALCT. 1 Publication
VAR_002578
Natural varianti148 – 1481R → W in GALCT; unstable protein. 1 Publication
VAR_002579
Natural varianti150 – 1501V → L in GALCT. 1 Publication
VAR_002580
Natural varianti151 – 1511V → A in GALCT; approximatively 3% of normal activity. 1 Publication
VAR_002581
Natural varianti154 – 1541W → G in GALCT.
VAR_002582
Natural varianti166 – 1661P → A in GALCT. 1 Publication
VAR_068826
Natural varianti167 – 1671W → R in GALCT.
VAR_008044
Natural varianti168 – 1681V → L in GALCT; loss of activty. 1 Publication
VAR_068538
Natural varianti170 – 1701I → T in GALCT; loss of activty. 1 Publication
VAR_068539
Natural varianti171 – 1711F → S in GALCT; reduced enzyme activity. 2 Publications
VAR_002583
Natural varianti175 – 1751G → D in GALCT; reduces strongly galactose uridylyltransferase activity. 1 Publication
VAR_072796
Natural varianti179 – 1791G → D in GALCT.
VAR_002584
Natural varianti181 – 1811S → A in GALCT. 1 Publication
VAR_068540
Natural varianti181 – 1811S → F in GALCT. 1 Publication
VAR_068827
Natural varianti183 – 1831P → T in GALCT. 2 Publications
VAR_002585
Natural varianti184 – 1841H → Q in GALCT. 1 Publication
VAR_002586
Natural varianti185 – 1851P → H in GALCT; loss of activty. 2 Publications
VAR_068541
Natural varianti185 – 1851P → L in GALCT. 1 Publication
VAR_068828
Natural varianti185 – 1851P → S in GALCT. 2 Publications
VAR_068542
Natural varianti188 – 1881Q → R in GALCT; most common mutation; accounts for approximately 70% of GALCT alleles tested; 10% of normal galactose uridylyltransferase activity. 10 Publications
Corresponds to variant rs75391579 [ dbSNP | Ensembl ].
VAR_002587
Natural varianti192 – 1921S → G in GALCT. 1 Publication
VAR_068543
Natural varianti192 – 1921S → N in GALCT.
VAR_002588
Natural varianti194 – 1941F → L in GALCT.
VAR_002589
Natural varianti195 – 1951L → P in GALCT; no enzymatic activity. 2 Publications
VAR_002590
Natural varianti198 – 1981I → M in GALCT.
VAR_002591
Natural varianti198 – 1981I → T in GALCT.
VAR_002592
Natural varianti199 – 1991A → T in GALCT.
VAR_002593
Natural varianti201 – 2011R → C in GALCT; 2-fold decrease in activity. 2 Publications
VAR_068544
Natural varianti201 – 2011R → H in GALCT.
VAR_002594
Natural varianti203 – 2031E → K in GALCT.
VAR_002595
Natural varianti204 – 2041R → P in GALCT.
VAR_008045
Natural varianti209 – 2091Y → C in GALCT.
VAR_002596
Natural varianti209 – 2091Y → S in GALCT.
VAR_002597
Natural varianti212 – 2121Q → H in GALCT.
VAR_002598
Natural varianti217 – 2171L → P in GALCT.
VAR_002599
Natural varianti220 – 2201E → K in GALCT; 3-fold decrease in activity. 2 Publications
VAR_068545
Natural varianti223 – 2231R → S in GALCT; 3-fold decrease in activity. 2 Publications
VAR_068546
Natural varianti226 – 2261L → P in GALCT.
VAR_002600
Natural varianti227 – 2271L → P in GALCT; results in no detectable protein in the soluble fraction. 1 Publication
VAR_068547
Natural varianti229 – 2291K → N in GALCT. 1 Publication
VAR_023330
Natural varianti231 – 2311R → C in GALCT. 1 Publication
VAR_072797
Natural varianti231 – 2311R → H in GALCT; 15% of normal activity. 2 Publications
VAR_002601
Natural varianti244 – 2441P → S in GALCT. 1 Publication
VAR_072798
Natural varianti249 – 2491W → R in GALCT.
VAR_002602
Natural varianti251 – 2511Y → C in GALCT.
VAR_002603
Natural varianti251 – 2511Y → S in GALCT. 1 Publication
VAR_002604
Natural varianti252 – 2521Q → H in GALCT. 1 Publication
VAR_023331
Natural varianti258 – 2581R → C in GALCT.
VAR_002605
Natural varianti259 – 2591R → Q in GALCT; loss of activity. 1 Publication
VAR_068548
Natural varianti259 – 2591R → W in GALCT; mild.
VAR_002606
Natural varianti262 – 2621R → P in GALCT.
VAR_002607
Natural varianti263 – 2631Missing in GALCT.
VAR_008046
Natural varianti265 – 2651P → A in GALCT. 1 Publication
VAR_068549
Natural varianti267 – 2671L → R in GALCT. 1 Publication
VAR_072799
Natural varianti267 – 2671L → V in GALCT. 1 Publication
VAR_072800
Natural varianti271 – 2711E → D in GALCT. 1 Publication
VAR_072801
Natural varianti272 – 2721R → G in GALCT.
VAR_008047
Natural varianti278 – 2781I → N in GALCT; 18-fold decrease in activity. 2 Publications
VAR_068550
Natural varianti282 – 2821L → V in GALCT.
VAR_002608
Natural varianti285 – 2851K → N in GALCT; severe; 25-40% of the European population. 4 Publications
VAR_002609
Natural varianti285 – 2851K → R in GALCT. 1 Publication
VAR_068829
Natural varianti289 – 2891L → F in GALCT; 3-fold decrease in activity. 2 Publications
VAR_068551
Natural varianti289 – 2891L → R in GALCT.
VAR_002610
Natural varianti291 – 2911E → K in GALCT.
VAR_002611
Natural varianti291 – 2911E → V in GALCT; 2-fold decrease in activity. 1 Publication
VAR_068552
Natural varianti294 – 2941F → Y in GALCT. 1 Publication
VAR_008048
Natural varianti308 – 3081E → K in GALCT.
VAR_002612
Natural varianti314 – 3141N → 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 Publications
Corresponds to variant rs2070074 [ dbSNP | Ensembl ].
VAR_002613
Natural varianti317 – 3171Q → H in GALCT.
VAR_002614
Natural varianti317 – 3171Q → R in GALCT.
VAR_002615
Natural varianti319 – 3191H → Q in GALCT. 3 Publications
VAR_002616
Natural varianti320 – 3201A → T in GALCT. 1 Publication
VAR_002617
Natural varianti323 – 3231Y → D in GALCT.
VAR_002618
Natural varianti323 – 3231Y → H in GALCT.
VAR_002619
Natural varianti324 – 3241P → S in GALCT.
VAR_002620
Natural varianti325 – 3251P → L in GALCT. 1 Publication
VAR_002621
Natural varianti327 – 3271L → P in GALCT; results in no detectable protein in the soluble fraction. 1 Publication
VAR_068553
Natural varianti328 – 3281R → H in GALCT.
VAR_002622
Natural varianti329 – 3291S → F in GALCT. 1 Publication
VAR_002623
Natural varianti330 – 3301A → V in GALCT; mild. 1 Publication
VAR_002624
Natural varianti333 – 3331R → G in GALCT.
VAR_002625
Natural varianti333 – 3331R → L in GALCT. 1 Publication
VAR_068830
Natural varianti333 – 3331R → Q in GALCT.
VAR_002626
Natural varianti333 – 3331R → W in GALCT; no enzymatic activity. 3 Publications
VAR_002627
Natural varianti334 – 3341K → R in GALCT.
VAR_002628
Natural varianti336 – 3361M → L in GALCT.
VAR_002629
Natural varianti342 – 3421L → I in GALCT. 1 Publication
VAR_068554
Natural varianti344 – 3441Q → K in GALCT. 1 Publication
VAR_002630
Natural varianti345 – 3451A → D in GALCT. 1 Publication
VAR_068555
Natural varianti350 – 3501T → A in GALCT; mild.
VAR_002631

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

MIMi230400. phenotype.
Orphaneti79239. Classic galactosemia.
PharmGKBiPA28548.

Polymorphism and mutation databases

BioMutaiGALT.
DMDMi3183522.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 379379Galactose-1-phosphate uridylyltransferasePRO_0000169882Add
BLAST

Proteomic databases

MaxQBiP07902.
PaxDbiP07902.
PRIDEiP07902.

PTM databases

PhosphoSiteiP07902.

Expressioni

Gene expression databases

BgeeiP07902.
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 interactions.
IntActiP07902. 2 interactions.
STRINGi9606.ENSP00000368119.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1R3Amodel-A/B21-379[»]
ProteinModelPortaliP07902.
SMRiP07902. Positions 24-366.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG1085.
GeneTreeiENSGT00390000016188.
HOGENOMiHOG000230490.
HOVERGENiHBG051700.
InParanoidiP07902.
KOiK00965.
OMAiWHYAPFF.
OrthoDBiEOG7ZKSB8.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti258 – 2592RR → VG in AAC83409 (PubMed:2840550).Curated
Sequence conflicti335 – 3351F → L in BAG64359 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91Q → H in GALCT. 1 Publication
VAR_068531
Natural varianti23 – 231T → A in GALCT. 1 Publication
VAR_068532
Natural varianti28 – 281D → H in GALCT. 1 Publication
VAR_068533
Natural varianti28 – 281D → Y in GALCT. 1 Publication
VAR_002548
Natural varianti32 – 321I → N in GALCT; mild. 1 Publication
VAR_002549
Natural varianti33 – 331R → H in GALCT. 1 Publication
VAR_068534
Natural varianti33 – 331R → P in GALCT. 1 Publication
VAR_072793
Natural varianti34 – 341Y → N in GALCT; affects protein stability. 2 Publications
VAR_068535
Natural varianti38 – 381Q → P in GALCT. 1 Publication
VAR_002550
Natural varianti44 – 441V → L in GALCT.
VAR_002551
Natural varianti44 – 441V → M in GALCT; reduced enzyme activity. 1 Publication
VAR_002552
Natural varianti45 – 451S → L in GALCT.
VAR_008042
Natural varianti51 – 511R → L in GALCT.
VAR_002553
Natural varianti51 – 511R → Q in GALCT. 1 Publication
VAR_023328
Natural varianti55 – 551G → C in GALCT. 1 Publication
VAR_002554
Natural varianti62 – 621L → M.1 Publication
Corresponds to variant rs1800461 [ dbSNP | Ensembl ].
VAR_002555
Natural varianti67 – 671R → C in GALCT. 1 Publication
VAR_002556
Natural varianti74 – 741L → P in GALCT; reduced enzyme activity. 1 Publication
VAR_002557
Natural varianti81 – 811A → T in GALCT.
VAR_002558
Natural varianti83 – 831G → V in GALCT. 1 Publication
VAR_072794
Natural varianti89 – 891Y → H in GALCT. 1 Publication
VAR_068824
Natural varianti97 – 971N → S in GALCT.
VAR_002559
Natural varianti98 – 981D → N in GALCT.
VAR_002560
Natural varianti103 – 1031Q → R in GALCT. 1 Publication
VAR_068825
Natural varianti112 – 1121S → R in GALCT. 1 Publication
VAR_068536
Natural varianti113 – 1131D → N in GALCT.
VAR_002561
Natural varianti114 – 1141H → L in GALCT.
VAR_002562
Natural varianti117 – 1171F → S in GALCT.
VAR_002563
Natural varianti118 – 1181Q → H in GALCT.
VAR_002564
Natural varianti123 – 1231R → G in GALCT. 1 Publication
VAR_002565
Natural varianti123 – 1231R → Q in GALCT.
VAR_002566
Natural varianti125 – 1251V → A in GALCT.
VAR_002567
Natural varianti127 – 1271K → E in GALCT.
VAR_002568
Natural varianti129 – 1291M → T in GALCT. 1 Publication
VAR_008043
Natural varianti130 – 1301C → Y in GALCT.
VAR_002569
Natural varianti132 – 1321H → Q in GALCT; affects protein stability. 1 Publication
VAR_068537
Natural varianti132 – 1321H → Y in GALCT.
VAR_002570
Natural varianti135 – 1351S → L in GALCT; frequent mutation in African Americans; about 5% of normal galactose uridylyltransferase activity. 5 Publications
Corresponds to variant rs111033690 [ dbSNP | Ensembl ].
VAR_002571
Natural varianti135 – 1351S → W in GALCT. 1 Publication
Corresponds to variant rs111033690 [ dbSNP | Ensembl ].
VAR_023329
Natural varianti138 – 1381T → M in GALCT; mild. 1 Publication
VAR_002572
Natural varianti139 – 1391L → P in GALCT.
VAR_002573
Natural varianti142 – 1421M → K in GALCT; 4% of normal activity. 2 Publications
VAR_002574
Natural varianti142 – 1421M → T in GALCT. 1 Publication
VAR_072795
Natural varianti142 – 1421M → V in GALCT.
VAR_002575
Natural varianti143 – 1431S → L in GALCT. 1 Publication
VAR_002576
Natural varianti148 – 1481R → G in GALCT.
VAR_002577
Natural varianti148 – 1481R → Q in GALCT. 1 Publication
VAR_002578
Natural varianti148 – 1481R → W in GALCT; unstable protein. 1 Publication
VAR_002579
Natural varianti150 – 1501V → L in GALCT. 1 Publication
VAR_002580
Natural varianti151 – 1511V → A in GALCT; approximatively 3% of normal activity. 1 Publication
VAR_002581
Natural varianti154 – 1541W → G in GALCT.
VAR_002582
Natural varianti166 – 1661P → A in GALCT. 1 Publication
VAR_068826
Natural varianti167 – 1671W → R in GALCT.
VAR_008044
Natural varianti168 – 1681V → L in GALCT; loss of activty. 1 Publication
VAR_068538
Natural varianti170 – 1701I → T in GALCT; loss of activty. 1 Publication
VAR_068539
Natural varianti171 – 1711F → S in GALCT; reduced enzyme activity. 2 Publications
VAR_002583
Natural varianti175 – 1751G → D in GALCT; reduces strongly galactose uridylyltransferase activity. 1 Publication
VAR_072796
Natural varianti179 – 1791G → D in GALCT.
VAR_002584
Natural varianti181 – 1811S → A in GALCT. 1 Publication
VAR_068540
Natural varianti181 – 1811S → F in GALCT. 1 Publication
VAR_068827
Natural varianti183 – 1831P → T in GALCT. 2 Publications
VAR_002585
Natural varianti184 – 1841H → Q in GALCT. 1 Publication
VAR_002586
Natural varianti185 – 1851P → H in GALCT; loss of activty. 2 Publications
VAR_068541
Natural varianti185 – 1851P → L in GALCT. 1 Publication
VAR_068828
Natural varianti185 – 1851P → S in GALCT. 2 Publications
VAR_068542
Natural varianti188 – 1881Q → R in GALCT; most common mutation; accounts for approximately 70% of GALCT alleles tested; 10% of normal galactose uridylyltransferase activity. 10 Publications
Corresponds to variant rs75391579 [ dbSNP | Ensembl ].
VAR_002587
Natural varianti192 – 1921S → G in GALCT. 1 Publication
VAR_068543
Natural varianti192 – 1921S → N in GALCT.
VAR_002588
Natural varianti194 – 1941F → L in GALCT.
VAR_002589
Natural varianti195 – 1951L → P in GALCT; no enzymatic activity. 2 Publications
VAR_002590
Natural varianti198 – 1981I → M in GALCT.
VAR_002591
Natural varianti198 – 1981I → T in GALCT.
VAR_002592
Natural varianti199 – 1991A → T in GALCT.
VAR_002593
Natural varianti201 – 2011R → C in GALCT; 2-fold decrease in activity. 2 Publications
VAR_068544
Natural varianti201 – 2011R → H in GALCT.
VAR_002594
Natural varianti203 – 2031E → K in GALCT.
VAR_002595
Natural varianti204 – 2041R → P in GALCT.
VAR_008045
Natural varianti209 – 2091Y → C in GALCT.
VAR_002596
Natural varianti209 – 2091Y → S in GALCT.
VAR_002597
Natural varianti212 – 2121Q → H in GALCT.
VAR_002598
Natural varianti217 – 2171L → P in GALCT.
VAR_002599
Natural varianti220 – 2201E → K in GALCT; 3-fold decrease in activity. 2 Publications
VAR_068545
Natural varianti223 – 2231R → S in GALCT; 3-fold decrease in activity. 2 Publications
VAR_068546
Natural varianti226 – 2261L → P in GALCT.
VAR_002600
Natural varianti227 – 2271L → P in GALCT; results in no detectable protein in the soluble fraction. 1 Publication
VAR_068547
Natural varianti229 – 2291K → N in GALCT. 1 Publication
VAR_023330
Natural varianti231 – 2311R → C in GALCT. 1 Publication
VAR_072797
Natural varianti231 – 2311R → H in GALCT; 15% of normal activity. 2 Publications
VAR_002601
Natural varianti244 – 2441P → S in GALCT. 1 Publication
VAR_072798
Natural varianti249 – 2491W → R in GALCT.
VAR_002602
Natural varianti251 – 2511Y → C in GALCT.
VAR_002603
Natural varianti251 – 2511Y → S in GALCT. 1 Publication
VAR_002604
Natural varianti252 – 2521Q → H in GALCT. 1 Publication
VAR_023331
Natural varianti258 – 2581R → C in GALCT.
VAR_002605
Natural varianti259 – 2591R → Q in GALCT; loss of activity. 1 Publication
VAR_068548
Natural varianti259 – 2591R → W in GALCT; mild.
VAR_002606
Natural varianti262 – 2621R → P in GALCT.
VAR_002607
Natural varianti263 – 2631Missing in GALCT.
VAR_008046
Natural varianti265 – 2651P → A in GALCT. 1 Publication
VAR_068549
Natural varianti267 – 2671L → R in GALCT. 1 Publication
VAR_072799
Natural varianti267 – 2671L → V in GALCT. 1 Publication
VAR_072800
Natural varianti271 – 2711E → D in GALCT. 1 Publication
VAR_072801
Natural varianti272 – 2721R → G in GALCT.
VAR_008047
Natural varianti278 – 2781I → N in GALCT; 18-fold decrease in activity. 2 Publications
VAR_068550
Natural varianti282 – 2821L → V in GALCT.
VAR_002608
Natural varianti285 – 2851K → N in GALCT; severe; 25-40% of the European population. 4 Publications
VAR_002609
Natural varianti285 – 2851K → R in GALCT. 1 Publication
VAR_068829
Natural varianti289 – 2891L → F in GALCT; 3-fold decrease in activity. 2 Publications
VAR_068551
Natural varianti289 – 2891L → R in GALCT.
VAR_002610
Natural varianti291 – 2911E → K in GALCT.
VAR_002611
Natural varianti291 – 2911E → V in GALCT; 2-fold decrease in activity. 1 Publication
VAR_068552
Natural varianti294 – 2941F → Y in GALCT. 1 Publication
VAR_008048
Natural varianti308 – 3081E → K in GALCT.
VAR_002612
Natural varianti314 – 3141N → 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 Publications
Corresponds to variant rs2070074 [ dbSNP | Ensembl ].
VAR_002613
Natural varianti317 – 3171Q → H in GALCT.
VAR_002614
Natural varianti317 – 3171Q → R in GALCT.
VAR_002615
Natural varianti319 – 3191H → Q in GALCT. 3 Publications
VAR_002616
Natural varianti320 – 3201A → T in GALCT. 1 Publication
VAR_002617
Natural varianti323 – 3231Y → D in GALCT.
VAR_002618
Natural varianti323 – 3231Y → H in GALCT.
VAR_002619
Natural varianti324 – 3241P → S in GALCT.
VAR_002620
Natural varianti325 – 3251P → L in GALCT. 1 Publication
VAR_002621
Natural varianti327 – 3271L → P in GALCT; results in no detectable protein in the soluble fraction. 1 Publication
VAR_068553
Natural varianti328 – 3281R → H in GALCT.
VAR_002622
Natural varianti329 – 3291S → F in GALCT. 1 Publication
VAR_002623
Natural varianti330 – 3301A → V in GALCT; mild. 1 Publication
VAR_002624
Natural varianti333 – 3331R → G in GALCT.
VAR_002625
Natural varianti333 – 3331R → L in GALCT. 1 Publication
VAR_068830
Natural varianti333 – 3331R → Q in GALCT.
VAR_002626
Natural varianti333 – 3331R → W in GALCT; no enzymatic activity. 3 Publications
VAR_002627
Natural varianti334 – 3341K → R in GALCT.
VAR_002628
Natural varianti336 – 3361M → L in GALCT.
VAR_002629
Natural varianti342 – 3421L → I in GALCT. 1 Publication
VAR_068554
Natural varianti344 – 3441Q → K in GALCT. 1 Publication
VAR_002630
Natural varianti345 – 3451A → D in GALCT. 1 Publication
VAR_068555
Natural varianti350 – 3501T → A in GALCT; mild.
VAR_002631

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1717MSRSG…QASEA → MTLSTLCVLGPSEPTES in isoform 2. 1 PublicationVSP_045604Add
BLAST
Alternative sequencei18 – 126109Missing in isoform 2. 1 PublicationVSP_045605Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M60091 mRNA. Translation: AAC83409.1.
M96264 Genomic DNA. Translation: AAA74450.1.
L46359 Genomic DNA. Translation: AAB59606.1.
L46360 Genomic DNA. Translation: AAB59604.1.
L46361 Genomic DNA. Translation: AAB59605.1.
L46362 Genomic DNA. Translation: AAB59603.1.
L46363 Genomic DNA. Translation: AAB59607.1.
L46364 Genomic DNA. Translation: AAB59584.1.
L46365 Genomic DNA. Translation: AAB59585.1.
L46691 Genomic DNA. Translation: AAB59586.1.
L46692 Genomic DNA. Translation: AAB59588.1.
L46693 Genomic DNA. Translation: AAB59587.1.
L46694 Genomic DNA. Translation: AAB59589.1.
L46698 Genomic DNA. Translation: AAB59590.1.
L46699 Genomic DNA. Translation: AAB59608.1.
L46703 Genomic DNA. Translation: AAB59591.1.
L46704 Genomic DNA. Translation: AAB59578.1.
L46705 Genomic DNA. Translation: AAB59592.1.
L46706 Genomic DNA. Translation: AAB59593.1.
L46707 Genomic DNA. Translation: AAA81544.1.
L46708 Genomic DNA. Translation: AAA81545.1.
L46709 Genomic DNA. Translation: AAB59594.1.
L46710 Genomic DNA. Translation: AAB59595.1.
L46711 Genomic DNA. Translation: AAB59596.1.
L46712 Genomic DNA. Translation: AAB59597.1.
L46713 Genomic DNA. Translation: AAB59598.1.
L46714 Genomic DNA. Translation: AAB59599.1.
L46715 Genomic DNA. Translation: AAB59601.1.
L46716 Genomic DNA. Translation: AAB59600.1.
L46717 Genomic DNA. Translation: AAA81546.1.
BT009852 mRNA. Translation: AAP88854.1.
AK303279 mRNA. Translation: BAG64359.1.
AL162231 Genomic DNA. Translation: CAH69856.1.
AL450283 Genomic DNA. No translation available.
CH471071 Genomic DNA. Translation: EAW58428.1.
BC015045 mRNA. Translation: AAH15045.1.
CCDSiCCDS59122.1. [P07902-2]
CCDS6565.1. [P07902-1]
PIRiA44473.
I57459.
JL0053.
RefSeqiNP_000146.2. NM_000155.3. [P07902-1]
NP_001245261.1. NM_001258332.1. [P07902-2]
UniGeneiHs.522090.

Genome annotation databases

EnsembliENST00000378842; ENSP00000368119; ENSG00000213930.
ENST00000450095; ENSP00000401956; ENSG00000213930. [P07902-2]
GeneIDi2592.
KEGGihsa:2592.
UCSCiuc003zve.4. human. [P07902-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Galactose-1-Phosphate Uridyl Transferase (GALT)

Galactosemia mutation database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M60091 mRNA. Translation: AAC83409.1.
M96264 Genomic DNA. Translation: AAA74450.1.
L46359 Genomic DNA. Translation: AAB59606.1.
L46360 Genomic DNA. Translation: AAB59604.1.
L46361 Genomic DNA. Translation: AAB59605.1.
L46362 Genomic DNA. Translation: AAB59603.1.
L46363 Genomic DNA. Translation: AAB59607.1.
L46364 Genomic DNA. Translation: AAB59584.1.
L46365 Genomic DNA. Translation: AAB59585.1.
L46691 Genomic DNA. Translation: AAB59586.1.
L46692 Genomic DNA. Translation: AAB59588.1.
L46693 Genomic DNA. Translation: AAB59587.1.
L46694 Genomic DNA. Translation: AAB59589.1.
L46698 Genomic DNA. Translation: AAB59590.1.
L46699 Genomic DNA. Translation: AAB59608.1.
L46703 Genomic DNA. Translation: AAB59591.1.
L46704 Genomic DNA. Translation: AAB59578.1.
L46705 Genomic DNA. Translation: AAB59592.1.
L46706 Genomic DNA. Translation: AAB59593.1.
L46707 Genomic DNA. Translation: AAA81544.1.
L46708 Genomic DNA. Translation: AAA81545.1.
L46709 Genomic DNA. Translation: AAB59594.1.
L46710 Genomic DNA. Translation: AAB59595.1.
L46711 Genomic DNA. Translation: AAB59596.1.
L46712 Genomic DNA. Translation: AAB59597.1.
L46713 Genomic DNA. Translation: AAB59598.1.
L46714 Genomic DNA. Translation: AAB59599.1.
L46715 Genomic DNA. Translation: AAB59601.1.
L46716 Genomic DNA. Translation: AAB59600.1.
L46717 Genomic DNA. Translation: AAA81546.1.
BT009852 mRNA. Translation: AAP88854.1.
AK303279 mRNA. Translation: BAG64359.1.
AL162231 Genomic DNA. Translation: CAH69856.1.
AL450283 Genomic DNA. No translation available.
CH471071 Genomic DNA. Translation: EAW58428.1.
BC015045 mRNA. Translation: AAH15045.1.
CCDSiCCDS59122.1. [P07902-2]
CCDS6565.1. [P07902-1]
PIRiA44473.
I57459.
JL0053.
RefSeqiNP_000146.2. NM_000155.3. [P07902-1]
NP_001245261.1. NM_001258332.1. [P07902-2]
UniGeneiHs.522090.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1R3Amodel-A/B21-379[»]
ProteinModelPortaliP07902.
SMRiP07902. Positions 24-366.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108864. 7 interactions.
IntActiP07902. 2 interactions.
STRINGi9606.ENSP00000368119.

PTM databases

PhosphoSiteiP07902.

Polymorphism and mutation databases

BioMutaiGALT.
DMDMi3183522.

Proteomic databases

MaxQBiP07902.
PaxDbiP07902.
PRIDEiP07902.

Protocols and materials databases

DNASUi2592.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378842; ENSP00000368119; ENSG00000213930.
ENST00000450095; ENSP00000401956; ENSG00000213930. [P07902-2]
GeneIDi2592.
KEGGihsa:2592.
UCSCiuc003zve.4. human. [P07902-1]

Organism-specific databases

CTDi2592.
GeneCardsiGC09P034636.
GeneReviewsiGALT.
HGNCiHGNC:4135. GALT.
HPAiHPA004868.
HPA005729.
MIMi230400. phenotype.
606999. gene.
neXtProtiNX_P07902.
Orphaneti79239. Classic galactosemia.
PharmGKBiPA28548.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG1085.
GeneTreeiENSGT00390000016188.
HOGENOMiHOG000230490.
HOVERGENiHBG051700.
InParanoidiP07902.
KOiK00965.
OMAiWHYAPFF.
OrthoDBiEOG7ZKSB8.
PhylomeDBiP07902.
TreeFamiTF300018.

Enzyme and pathway databases

UniPathwayiUPA00214.
BRENDAi2.7.7.12. 2681.
ReactomeiREACT_532. Galactose catabolism.
SABIO-RKP07902.

Miscellaneous databases

ChiTaRSiGALT. human.
GeneWikiiGalactose%E2%80%941-phosphate_uridylyltransferase.
GenomeRNAii2592.
NextBioi10253.
PROiP07902.
SOURCEiSearch...

Gene expression databases

BgeeiP07902.
ExpressionAtlasiP07902. baseline and differential.
GenevisibleiP07902. HS.

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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase."
    Reichardt J.K.V., Berg P.
    Mol. Biol. Med. 5:107-122(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Fibroblast.
  2. "Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase."
    Flach J.E., Reichardt J.K.V., Elsas L.J. II
    Mol. Biol. Med. 7:365-369(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GALCT ARG-188, INVOLVEMENT IN GALCT.
  4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASP-314.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Thymus.