Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P07902

- GALT_HUMAN

UniProt

P07902 - GALT_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Galactose-1-phosphate uridylyltransferase

Gene

GALT

Organism
Homo sapiens (Human)
Status
Reviewed - 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

Binds 1 iron ion per subunit.Curated
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

Vmax=48 µmol/min/mg enzyme1 Publication

Pathwayi

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

  1. UDP-glucose:hexose-1-phosphate uridylyltransferase activity Source: UniProtKB-EC
  2. zinc ion binding Source: InterPro

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. galactose catabolic process Source: Reactome
  3. galactose metabolic process Source: ProtInc
  4. small molecule metabolic process Source: Reactome
  5. 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

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: Chromosome 9

Organism-specific databases

HGNCiHGNC:4135. GALT.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. Golgi apparatus Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Galactosemia (GALCT) [MIM:230400]: Inherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation.23 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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 varianti34 – 341Y → N in GALCT; affects protein stability. 1 Publication
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 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 activity. 3 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 → 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.
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 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. 1 Publication
VAR_068541
Natural varianti185 – 1851P → L in GALCT. 1 Publication
VAR_068828
Natural varianti185 – 1851P → S in GALCT. 1 Publication
VAR_068542
Natural varianti188 – 1881Q → R in GALCT; most common mutation; accounts for approximately 70% of GALCT alleles tested; 10% of normal activity. 7 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. 1 Publication
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. 1 Publication
VAR_068545
Natural varianti223 – 2231R → S in GALCT; 3-fold decrease in activity. 1 Publication
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 → H in GALCT; 15% of normal activity. 1 Publication
VAR_002601
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 varianti272 – 2721R → G in GALCT.
VAR_008047
Natural varianti278 – 2781I → N in GALCT; 18-fold decrease in activity. 1 Publication
VAR_068550
Natural varianti282 – 2821L → V in GALCT.
VAR_002608
Natural varianti285 – 2851K → N in GALCT; severe; 25-40% of the European population. 2 Publications
VAR_002609
Natural varianti285 – 2851K → R in GALCT. 1 Publication
VAR_068829
Natural varianti289 – 2891L → F in GALCT; 3-fold decrease in activity. 1 Publication
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 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. 2 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.

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.
GenevestigatoriP07902.

Organism-specific databases

HPAiHPA004868.
HPA005729.

Interactioni

Subunit structurei

Homodimer.Curated

Protein-protein interaction databases

BioGridi108864. 7 interactions.
IntActiP07902. 1 interaction.

Structurei

3D structure databases

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

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG1085.
GeneTreeiENSGT00390000016188.
HOVERGENiHBG051700.
InParanoidiP07902.
KOiK00965.
OMAiVWINDST.
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. Align

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 varianti34 – 341Y → N in GALCT; affects protein stability. 1 Publication
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 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 activity. 3 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 → 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.
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 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. 1 Publication
VAR_068541
Natural varianti185 – 1851P → L in GALCT. 1 Publication
VAR_068828
Natural varianti185 – 1851P → S in GALCT. 1 Publication
VAR_068542
Natural varianti188 – 1881Q → R in GALCT; most common mutation; accounts for approximately 70% of GALCT alleles tested; 10% of normal activity. 7 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. 1 Publication
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. 1 Publication
VAR_068545
Natural varianti223 – 2231R → S in GALCT; 3-fold decrease in activity. 1 Publication
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 → H in GALCT; 15% of normal activity. 1 Publication
VAR_002601
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 varianti272 – 2721R → G in GALCT.
VAR_008047
Natural varianti278 – 2781I → N in GALCT; 18-fold decrease in activity. 1 Publication
VAR_068550
Natural varianti282 – 2821L → V in GALCT.
VAR_002608
Natural varianti285 – 2851K → N in GALCT; severe; 25-40% of the European population. 2 Publications
VAR_002609
Natural varianti285 – 2851K → R in GALCT. 1 Publication
VAR_068829
Natural varianti289 – 2891L → F in GALCT; 3-fold decrease in activity. 1 Publication
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 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. 7 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. 2 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:
EMBL
GenBank
DDBJ
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. [P07902-1]
ENST00000450095; ENSP00000401956; ENSG00000213930. [P07902-2]
GeneIDi2592.
KEGGihsa:2592.
UCSCiuc003zve.4. human. [P07902-1]

Polymorphism databases

DMDMi3183522.

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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS59122.1. [P07902-2 ]
CCDS6565.1. [P07902-1 ]
PIRi A44473.
I57459.
JL0053.
RefSeqi NP_000146.2. NM_000155.3. [P07902-1 ]
NP_001245261.1. NM_001258332.1. [P07902-2 ]
UniGenei Hs.522090.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1R3A model - A/B 21-379 [» ]
ProteinModelPortali P07902.
SMRi P07902. Positions 24-366.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108864. 7 interactions.
IntActi P07902. 1 interaction.

PTM databases

PhosphoSitei P07902.

Polymorphism databases

DMDMi 3183522.

Proteomic databases

MaxQBi P07902.
PaxDbi P07902.
PRIDEi P07902.

Protocols and materials databases

DNASUi 2592.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000378842 ; ENSP00000368119 ; ENSG00000213930 . [P07902-1 ]
ENST00000450095 ; ENSP00000401956 ; ENSG00000213930 . [P07902-2 ]
GeneIDi 2592.
KEGGi hsa:2592.
UCSCi uc003zve.4. human. [P07902-1 ]

Organism-specific databases

CTDi 2592.
GeneCardsi GC09P034636.
GeneReviewsi GALT.
HGNCi HGNC:4135. GALT.
HPAi HPA004868.
HPA005729.
MIMi 230400. phenotype.
606999. gene.
neXtProti NX_P07902.
Orphaneti 79239. Classic galactosemia.
PharmGKBi PA28548.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1085.
GeneTreei ENSGT00390000016188.
HOVERGENi HBG051700.
InParanoidi P07902.
KOi K00965.
OMAi VWINDST.
OrthoDBi EOG7ZKSB8.
PhylomeDBi P07902.
TreeFami TF300018.

Enzyme and pathway databases

UniPathwayi UPA00214 .
Reactomei REACT_532. Galactose catabolism.
SABIO-RK P07902.

Miscellaneous databases

ChiTaRSi GALT. human.
GeneWikii Galactose%E2%80%941-phosphate_uridylyltransferase.
GenomeRNAii 2592.
NextBioi 10253.
PROi P07902.
SOURCEi Search...

Gene expression databases

Bgeei P07902.
ExpressionAtlasi P07902. baseline and differential.
Genevestigatori P07902.

Family and domain databases

Gene3Di 3.30.428.10. 2 hits.
InterProi IPR001937. GalP_UDPtransf1.
IPR019779. GalP_UDPtransf1_His-AS.
IPR005850. GalP_Utransf_C.
IPR005849. GalP_Utransf_N.
IPR011146. HIT-like.
[Graphical view ]
PANTHERi PTHR11943. PTHR11943. 1 hit.
Pfami PF02744. GalP_UDP_tr_C. 1 hit.
PF01087. GalP_UDP_transf. 1 hit.
[Graphical view ]
PIRSFi PIRSF000808. GalT. 1 hit.
SUPFAMi SSF54197. SSF54197. 2 hits.
TIGRFAMsi TIGR00209. galT_1. 1 hit.
PROSITEi PS00117. GAL_P_UDP_TRANSF_I. 1 hit.
[Graphical view ]
ProtoNeti Search...

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.
  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.
  6. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASP-314.
    Tissue: Skin.
  9. Cited for: REVIEW ON GALCT MUTATIONS.
  10. "Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase 'GALT' gene."
    Tyfield L., Reichardt J., Fridovich-Keil J., Croke D.T., Elsas L.J. II, Strobl W., Kozak L., Coskun T., Novelli G., Okano Y., Zekanowski C., Shin Y., Boleda M.D.
    Hum. Mutat. 13:417-430(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON GALCT MUTATIONS.
  11. "Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene."
    Tang M., Facchiano A., Rachamadugu R., Calderon F., Mao R., Milanesi L., Marabotti A., Lai K.
    Hum. Mutat. 33:1107-1115(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: BIOPHYSICOCHEMICAL PROPERTIES, VARIANTS GALCT ASN-34; GLN-132; LEU-168; THR-170; PRO-227; GLN-259; VAL-291 AND PRO-327, CHARACTERIZATION OF VARIANTS GALCT ASN-34; GLN-132; LEU-135; LEU-168; THR-170; HIS-185; ARG-188; CYS-201; LYS-220; SER-223; PRO-227; GLN-259; ASN-278; PHE-289; VAL-291 AND PRO-327.
  12. "Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase."
    Reichardt J.K.V., Packman S., Woo S.L.C.
    Am. J. Hum. Genet. 49:860-867(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT ARG-188 AND TRP-333.
  13. "Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase."
    Reichardt J.K.V., Woo S.L.C.
    Proc. Natl. Acad. Sci. U.S.A. 88:2633-2637(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT MET-44 AND LYS-142, VARIANTS MET-62 AND ASP-314.
  14. Erratum
    Reichardt J.K.V., Woo S.L.C.
    Proc. Natl. Acad. Sci. U.S.A. 88:7457-7457(1991)
  15. "Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase."
    Reichardt J.K.V., Levy H.L., Woo S.L.C.
    Biochemistry 31:5430-5433(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT PRO-74 AND SER-171, VARIANT LEU-135.
  16. "Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia."
    Reichardt J.K.V., Belmont J.W., Levy H.L., Woo S.L.C.
    Genomics 12:596-600(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT TRP-148 AND PRO-195.
  17. "Molecular characterization of the H319Q galactosemia mutation."
    Reichardt J.K.V., Novelli G., Dallapiccola B.
    Hum. Mol. Genet. 2:325-326(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GALCT GLN-319.
  18. "On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT)."
    Lin H.-C., Kirby L.T., Ng W.G., Reichardt J.K.V.
    Hum. Genet. 93:167-169(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DUARTE.
  19. "Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes."
    Elsas L.J., Langley S.D., Steele E., Evinger J., Frodovich-Keil J.L., Brown A., Singh R., Fernhoff P., Hjelm L.N., Dembure P.P.
    Am. J. Hum. Genet. 56:630-639(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT.
  20. "Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family."
    Fridovich-Keil J.L., Langley S.D., Mazur L.A., Lennon J.C., Dembure P.P., Elsas L.J. II
    Am. J. Hum. Genet. 56:640-646(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT LEU-135; ALA-151 AND ARG-188.
  21. "Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants."
    Sommer M., Gathof B.S., Podskarbi T., Giugliani R., Kleinlein B., Shin Y.S.
    J. Inherit. Metab. Dis. 18:567-576(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT CYS-67 AND VAL-330.
  22. "Molecular characterization of galactosemia (type 1) mutations in Japanese."
    Ashino J., Okano Y., Suyama I., Yamazaki T., Yoshino M., Furuyama J., Lin H.-C., Reichardt J.K.V., Isshiki G.
    Hum. Mutat. 6:36-43(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT HIS-231 AND TRP-333, VARIANT ASP-314.
  23. "Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia."
    Shin Y.S., Gathof B.S., Podskarbi T., Sommer M., Giugliani R., Gresser U.
    Eur. J. Pediatr. 155:393-397(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT CYS-55 AND PHE-329.
  24. "Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency."
    Maceratesi P., Sangiuolo F., Novelli G., Ninfali P., Magnani M., Reichardt J.K.V., Dallapiccola B.
    Hum. Mutat. 8:369-372(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT LEU-150; THR-183; ARG-188 AND GLN-319.
  25. "Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle."
    Ninfali P., Bresolin N., Dallapiccola B., Novelli G.
    J. Neurol. 243:102-103(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GALCT THR-183.
  26. "Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis."
    Greber-Platzer S., Guldberg P., Scheibenreiter S., Item C., Schuller E., Patel N., Strobl W.
    Hum. Mutat. 10:49-57(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT TYR-28; ASN-32; PRO-38; GLY-123; LEU-143 AND LEU-325.
  27. "Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y."
    Seyrantepe V., Ozguc M., Coskun T., Ozalp I., Reichardt J.K.V.
    Hum. Mutat. 13:339-339(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT LYS-142; ASN-285; TYR-294 AND THR-320.
  28. "Molecular analysis in newborns from Texas affected with galactosemia."
    Yang Y.P., Corley N., Garcia-Heras J.
    Hum. Mutat. 19:82-83(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT ALA-23; LEU-135; MET-138; GLN-184; ARG-188; PRO-195; SER-251; ASN-285; LYS-344 AND ASP-345, VARIANT ASP-314.
  29. "Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test."
    Item C., Hagerty B.P., Muhl A., Greber-Platzer S., Stockler-Ipsiroglu S., Strobl W.
    Pediatr. Res. 51:511-516(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT HIS-9; THR-129 AND ILE-342.
  30. Cited for: VARIANTS GALCT GLN-51; TRP-135; ASN-229 AND HIS-252.
  31. Cited for: VARIANTS GALCT HIS-28; HIS-33; ALA-181; SER-185; GLY-192 AND ALA-265.
  32. "Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene."
    Calderon F.R., Nelson L., Dobrowolski P., Sinitsyna I., Phansalkar A., Longo N., Pasquali M., Mao R.
    J. Inherit. Metab. Dis. 30:818-818(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT HIS-185; CYS-201; LYS-220; SER-223; ASN-278 AND PHE-289.
  33. Cited for: VARIANTS GALCT ARG-112 AND ARG-188, VARIANT ASP-314.
  34. "Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: Identification of 10 novel mutations and their structural and functional implications."
    Singh R., Thapa B.R., Kaur G., Prasad R.
    Clin. Chim. Acta 414:191-196(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT HIS-89; ARG-103; ALA-166; SER-171; PHE-181; LEU-185; ARG-188; ARG-285; GLN-319 AND LEU-333, VARIANT ASP-314.

Entry informationi

Entry nameiGALT_HUMAN
AccessioniPrimary (citable) accession number: P07902
Secondary accession number(s): B4E097
, E7ET32, Q14355, Q14356, Q14357, Q14358, Q14359, Q14360, Q14361, Q14363, Q14364, Q14365, Q14369, Q14370, Q14371, Q14372, Q14373, Q14374, Q14375, Q14377, Q14378, Q14380, Q14381, Q14382, Q14383, Q14384, Q14385, Q14386, Q14387, Q14389, Q16766, Q53XK1, Q5VZ81, Q96BY1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: July 15, 1998
Last modified: October 29, 2014
This is version 174 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3