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P07902

- GALT_HUMAN

UniProt

P07902 - GALT_HUMAN

Protein

Galactose-1-phosphate uridylyltransferase

Gene

GALT

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 173 (01 Oct 2014)
      Sequence version 3 (15 Jul 1998)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiP07902.
    BgeeiP07902.
    GenevestigatoriP07902.

    Organism-specific databases

    HPAiHPA004868.
    HPA005729.

    Interactioni

    Subunit structurei

    Homodimer.Curated

    Protein-protein interaction databases

    BioGridi108864. 3 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.
    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

    MSRSGTDPQQ RQQASEADAA AATFRANDHQ HIRYNPLQDE WVLVSAHRMK    50
    RPWQGQVEPQ LLKTVPRHDP LNPLCPGAIR ANGEVNPQYD STFLFDNDFP 100
    ALQPDAPSPG PSDHPLFQAK SARGVCKVMC FHPWSDVTLP LMSVPEIRAV 150
    VDAWASVTEE LGAQYPWVQI FENKGAMMGC SNPHPHCQVW ASSFLPDIAQ 200
    REERSQQAYK SQHGEPLLME YSRQELLRKE RLVLTSEHWL VLVPFWATWP 250
    YQTLLLPRRH VRRLPELTPA ERDDLASIMK KLLTKYDNLF ETSFPYSMGW 300
    HGAPTGSEAG ANWNHWQLHA HYYPPLLRSA TVRKFMVGYE MLAQAQRDLT 350
    PEQAAERLRA LPEVHYHLGQ KDRETATIA 379
    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. 3 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.
    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

    ArrayExpressi P07902.
    Bgeei P07902.
    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

    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 1, 2014
    This is version 173 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