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P51570

- GALK1_HUMAN

UniProt

P51570 - GALK1_HUMAN

Protein

Galactokinase

Gene

GALK1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 148 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
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    Functioni

    Major enzyme for galactose metabolism.

    Catalytic activityi

    ATP + alpha-D-galactose = ADP + alpha-D-galactose 1-phosphate.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei37 – 371Transition state stabilizerCurated
    Active sitei186 – 1861Proton acceptorBy similarity
    Binding sitei236 – 2361Substrate

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi134 – 14411ATPAdd
    BLAST

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB
    2. galactokinase activity Source: UniProtKB
    3. galactose binding Source: UniProtKB

    GO - Biological processi

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

    Keywords - Molecular functioni

    Kinase, Transferase

    Keywords - Biological processi

    Carbohydrate metabolism, Galactose metabolism

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_532. Galactose catabolism.
    SABIO-RKP51570.
    UniPathwayiUPA00214.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Galactokinase (EC:2.7.1.6)
    Alternative name(s):
    Galactose kinase
    Gene namesi
    Name:GALK1
    Synonyms:GALK
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:4118. GALK1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytosol Source: Reactome
    3. extracellular vesicular exosome Source: UniProt
    4. membrane Source: UniProtKB

    Pathology & Biotechi

    Involvement in diseasei

    Galactosemia II (GALCT2) [MIM:230200]: Autosomal recessive deficiency characterized by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti28 – 281P → T in GALCT2; founder Romani mutation. 2 Publications
    VAR_008514
    Natural varianti32 – 321V → M in GALCT2. 2 Publications
    VAR_002547
    Natural varianti36 – 361G → R in GALCT2. 1 Publication
    VAR_023486
    Natural varianti44 – 441H → Y in GALCT2. 1 Publication
    VAR_023487
    Natural varianti68 – 681R → C in GALCT2. 1 Publication
    VAR_023488
    Natural varianti198 – 1981A → V in GALCT2; mild deficiency; Osaka. 1 Publication
    Corresponds to variant rs80084721 [ dbSNP | Ensembl ].
    VAR_015746
    Natural varianti239 – 2391R → Q in GALCT2. 1 Publication
    VAR_023490
    Natural varianti288 – 2881T → M in GALCT2. 1 Publication
    VAR_023492
    Natural varianti346 – 3461G → S in GALCT2. 1 Publication
    VAR_023494
    Natural varianti349 – 3491G → S in GALCT2. 1 Publication
    VAR_023495
    Natural varianti384 – 3841A → P in GALCT2. 1 Publication
    VAR_023496

    Keywords - Diseasei

    Cataract, Disease mutation

    Organism-specific databases

    MIMi230200. phenotype.
    Orphaneti79237. Galactokinase deficiency.
    PharmGKBiPA28533.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 392392GalactokinasePRO_0000184645Add
    BLAST

    Proteomic databases

    MaxQBiP51570.
    PaxDbiP51570.
    PRIDEiP51570.

    2D gel databases

    OGPiP51570.
    REPRODUCTION-2DPAGEIPI00019383.

    PTM databases

    PhosphoSiteiP51570.

    Expressioni

    Gene expression databases

    ArrayExpressiP51570.
    BgeeiP51570.
    CleanExiHS_GALK1.
    GenevestigatoriP51570.

    Organism-specific databases

    HPAiHPA007094.
    HPA016960.

    Interactioni

    Subunit structurei

    Homodimer.1 Publication

    Protein-protein interaction databases

    BioGridi108857. 11 interactions.
    IntActiP51570. 5 interactions.
    MINTiMINT-4999410.
    STRINGi9606.ENSP00000225614.

    Structurei

    Secondary structure

    1
    392
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi9 – 2416
    Beta strandi29 – 4113
    Helixi46 – 483
    Beta strandi51 – 6818
    Beta strandi72 – 776
    Beta strandi80 – 823
    Beta strandi86 – 916
    Helixi105 – 1073
    Helixi108 – 1169
    Beta strandi118 – 1203
    Beta strandi124 – 1318
    Beta strandi137 – 1393
    Helixi141 – 15616
    Helixi163 – 17614
    Helixi185 – 1928
    Beta strandi197 – 2026
    Turni203 – 2053
    Beta strandi208 – 2125
    Beta strandi216 – 22813
    Turni233 – 2353
    Helixi236 – 24914
    Helixi260 – 2634
    Helixi266 – 2694
    Helixi272 – 29625
    Helixi300 – 31617
    Helixi323 – 33311
    Beta strandi338 – 3436
    Beta strandi348 – 35710
    Helixi358 – 3603
    Helixi361 – 37111
    Beta strandi377 – 3815
    Beta strandi387 – 3893

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1WUUX-ray2.50A/B/C/D2-392[»]
    1YH7model-A1-392[»]
    ProteinModelPortaliP51570.
    SMRiP51570. Positions 2-392.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP51570.

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni43 – 464Substrate binding
    Regioni183 – 1864Substrate binding

    Sequence similaritiesi

    Belongs to the GHMP kinase family. GalK subfamily.Curated

    Phylogenomic databases

    eggNOGiCOG0153.
    HOGENOMiHOG000241100.
    HOVERGENiHBG051695.
    KOiK00849.
    OrthoDBiEOG7K3TMV.
    PhylomeDBiP51570.
    TreeFamiTF354326.

    Family and domain databases

    Gene3Di3.30.230.10. 1 hit.
    3.30.70.890. 1 hit.
    InterProiIPR000705. Galactokinase.
    IPR019741. Galactokinase_CS.
    IPR019539. GalKase_gal-bd.
    IPR013750. GHMP_kinase_C_dom.
    IPR006204. GHMP_kinase_N_dom.
    IPR006203. GHMP_knse_ATP-bd_CS.
    IPR006206. Mevalonate/galactokinase.
    IPR020568. Ribosomal_S5_D2-typ_fold.
    IPR014721. Ribosomal_S5_D2-typ_fold_subgr.
    [Graphical view]
    PfamiPF10509. GalKase_gal_bdg. 1 hit.
    PF08544. GHMP_kinases_C. 1 hit.
    PF00288. GHMP_kinases_N. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000530. Galactokinase. 1 hit.
    PRINTSiPR00473. GALCTOKINASE.
    PR00959. MEVGALKINASE.
    SUPFAMiSSF54211. SSF54211. 1 hit.
    SSF55060. SSF55060. 1 hit.
    TIGRFAMsiTIGR00131. gal_kin. 1 hit.
    PROSITEiPS00106. GALACTOKINASE. 1 hit.
    PS00627. GHMP_KINASES_ATP. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P51570-1) [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

    MAALRQPQVA ELLAEARRAF REEFGAEPEL AVSAPGRVNL IGEHTDYNQG    50
    LVLPMALELM TVLVGSPRKD GLVSLLTTSE GADEPQRLQF PLPTAQRSLE 100
    PGTPRWANYV KGVIQYYPAA PLPGFSAVVV SSVPLGGGLS SSASLEVATY 150
    TFLQQLCPDS GTIAARAQVC QQAEHSFAGM PCGIMDQFIS LMGQKGHALL 200
    IDCRSLETSL VPLSDPKLAV LITNSNVRHS LASSEYPVRR RQCEEVARAL 250
    GKESLREVQL EELEAARDLV SKEGFRRARH VVGEIRRTAQ AAAALRRGDY 300
    RAFGRLMVES HRSLRDDYEV SCPELDQLVE AALAVPGVYG SRMTGGGFGG 350
    CTVTLLEASA APHAMRHIQE HYGGTATFYL SQAADGAKVL CL 392
    Length:392
    Mass (Da):42,272
    Last modified:October 1, 1996 - v1
    Checksum:i8D7CFF8FDB0E4718
    GO
    Isoform 2 (identifier: P51570-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MCAPPRGAPPEHPAPTGLCRSSCAELQARVM

    Note: No experimental confirmation available.

    Show »
    Length:422
    Mass (Da):45,358
    Checksum:i4ACD28D6352F019C
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti28 – 281P → T in GALCT2; founder Romani mutation. 2 Publications
    VAR_008514
    Natural varianti32 – 321V → M in GALCT2. 2 Publications
    VAR_002547
    Natural varianti36 – 361G → R in GALCT2. 1 Publication
    VAR_023486
    Natural varianti44 – 441H → Y in GALCT2. 1 Publication
    VAR_023487
    Natural varianti68 – 681R → C in GALCT2. 1 Publication
    VAR_023488
    Natural varianti184 – 1841I → M.1 Publication
    VAR_023489
    Natural varianti198 – 1981A → V in GALCT2; mild deficiency; Osaka. 1 Publication
    Corresponds to variant rs80084721 [ dbSNP | Ensembl ].
    VAR_015746
    Natural varianti239 – 2391R → Q in GALCT2. 1 Publication
    VAR_023490
    Natural varianti274 – 2741G → D.1 Publication
    VAR_023491
    Natural varianti288 – 2881T → M in GALCT2. 1 Publication
    VAR_023492
    Natural varianti338 – 3381V → A.1 Publication
    VAR_023493
    Natural varianti346 – 3461G → S in GALCT2. 1 Publication
    VAR_023494
    Natural varianti349 – 3491G → S in GALCT2. 1 Publication
    VAR_023495
    Natural varianti384 – 3841A → P in GALCT2. 1 Publication
    VAR_023496

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MCAPPRGAPPEHPAPTGLCR SSCAELQARVM in isoform 2. 1 PublicationVSP_055079

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U26401 mRNA. Translation: AAA96147.1.
    L76927 Genomic DNA. Translation: AAB51607.1.
    AK303832 mRNA. Translation: BAG64778.1.
    AK314890 mRNA. Translation: BAG37404.1.
    BT007005 mRNA. Translation: AAP35651.1.
    AC087749 Genomic DNA. No translation available.
    CH471099 Genomic DNA. Translation: EAW89316.1.
    BC001166 mRNA. Translation: AAH01166.1.
    CCDSiCCDS11728.1. [P51570-1]
    RefSeqiNP_000145.1. NM_000154.1.
    UniGeneiHs.407966.

    Genome annotation databases

    EnsembliENST00000225614; ENSP00000225614; ENSG00000108479. [P51570-1]
    ENST00000588479; ENSP00000465930; ENSG00000108479. [P51570-1]
    GeneIDi2584.
    KEGGihsa:2584.
    UCSCiuc002jpk.3. human. [P51570-1]

    Polymorphism databases

    DMDMi1730187.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U26401 mRNA. Translation: AAA96147.1 .
    L76927 Genomic DNA. Translation: AAB51607.1 .
    AK303832 mRNA. Translation: BAG64778.1 .
    AK314890 mRNA. Translation: BAG37404.1 .
    BT007005 mRNA. Translation: AAP35651.1 .
    AC087749 Genomic DNA. No translation available.
    CH471099 Genomic DNA. Translation: EAW89316.1 .
    BC001166 mRNA. Translation: AAH01166.1 .
    CCDSi CCDS11728.1. [P51570-1 ]
    RefSeqi NP_000145.1. NM_000154.1.
    UniGenei Hs.407966.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1WUU X-ray 2.50 A/B/C/D 2-392 [» ]
    1YH7 model - A 1-392 [» ]
    ProteinModelPortali P51570.
    SMRi P51570. Positions 2-392.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108857. 11 interactions.
    IntActi P51570. 5 interactions.
    MINTi MINT-4999410.
    STRINGi 9606.ENSP00000225614.

    Chemistry

    ChEMBLi CHEMBL1293257.

    PTM databases

    PhosphoSitei P51570.

    Polymorphism databases

    DMDMi 1730187.

    2D gel databases

    OGPi P51570.
    REPRODUCTION-2DPAGE IPI00019383.

    Proteomic databases

    MaxQBi P51570.
    PaxDbi P51570.
    PRIDEi P51570.

    Protocols and materials databases

    DNASUi 2584.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000225614 ; ENSP00000225614 ; ENSG00000108479 . [P51570-1 ]
    ENST00000588479 ; ENSP00000465930 ; ENSG00000108479 . [P51570-1 ]
    GeneIDi 2584.
    KEGGi hsa:2584.
    UCSCi uc002jpk.3. human. [P51570-1 ]

    Organism-specific databases

    CTDi 2584.
    GeneCardsi GC17M073730.
    HGNCi HGNC:4118. GALK1.
    HPAi HPA007094.
    HPA016960.
    MIMi 230200. phenotype.
    604313. gene.
    neXtProti NX_P51570.
    Orphaneti 79237. Galactokinase deficiency.
    PharmGKBi PA28533.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0153.
    HOGENOMi HOG000241100.
    HOVERGENi HBG051695.
    KOi K00849.
    OrthoDBi EOG7K3TMV.
    PhylomeDBi P51570.
    TreeFami TF354326.

    Enzyme and pathway databases

    UniPathwayi UPA00214 .
    Reactomei REACT_532. Galactose catabolism.
    SABIO-RK P51570.

    Miscellaneous databases

    EvolutionaryTracei P51570.
    GenomeRNAii 2584.
    NextBioi 10223.
    PROi P51570.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P51570.
    Bgeei P51570.
    CleanExi HS_GALK1.
    Genevestigatori P51570.

    Family and domain databases

    Gene3Di 3.30.230.10. 1 hit.
    3.30.70.890. 1 hit.
    InterProi IPR000705. Galactokinase.
    IPR019741. Galactokinase_CS.
    IPR019539. GalKase_gal-bd.
    IPR013750. GHMP_kinase_C_dom.
    IPR006204. GHMP_kinase_N_dom.
    IPR006203. GHMP_knse_ATP-bd_CS.
    IPR006206. Mevalonate/galactokinase.
    IPR020568. Ribosomal_S5_D2-typ_fold.
    IPR014721. Ribosomal_S5_D2-typ_fold_subgr.
    [Graphical view ]
    Pfami PF10509. GalKase_gal_bdg. 1 hit.
    PF08544. GHMP_kinases_C. 1 hit.
    PF00288. GHMP_kinases_N. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000530. Galactokinase. 1 hit.
    PRINTSi PR00473. GALCTOKINASE.
    PR00959. MEVGALKINASE.
    SUPFAMi SSF54211. SSF54211. 1 hit.
    SSF55060. SSF55060. 1 hit.
    TIGRFAMsi TIGR00131. gal_kin. 1 hit.
    PROSITEi PS00106. GALACTOKINASE. 1 hit.
    PS00627. GHMP_KINASES_ATP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts."
      Stambolian D., Ai Y., Sidjanin D., Nesburn K., Sathe G., Rosenberg M., Bergsma D.J.
      Nat. Genet. 10:307-312(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT II GALACTOSEMIA MET-32.
    2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "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] (ISOFORMS 1 AND 2).
      Tissue: Lung.
    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 (OCT-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    5. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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).
      Tissue: Brain.
    8. Lubec G., Chen W.-Q., Sun Y.
      Submitted (DEC-2008) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 6-17; 22-37; 70-97; 205-239; 257-267; 288-296 AND 343-388, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Fetal brain cortex.
    9. "Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2."
      Ai Y., Basu M., Bergsma D.J., Stambolian D.
      Biochem. Biophys. Res. Commun. 212:687-691(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "Molecular structure of human galactokinase: implications for type II galactosemia."
      Thoden J.B., Timson D.J., Reece R.J., Holden H.M.
      J. Biol. Chem. 280:9662-9670(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 2-392 IN COMPLEX WITH D-GALACTOSE AND ATP ANALOG, SUBUNIT, SUBSTRATE-BINDING SITES.
    12. Cited for: VARIANT GALCT2 THR-28.
    13. Cited for: VARIANTS GALCT2 THR-28; ARG-36; TYR-44; SER-346 AND SER-349.
    14. "A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, 'Osaka,' in Asians."
      Okano Y., Asada M., Fujimoto A., Ohtake A., Murayama K., Hsiao K.-J., Choeh K., Yang Y., Cao Q., Reichardt J.K.V., Niihira S., Imamura T., Yamano T.
      Am. J. Hum. Genet. 68:1036-1042(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GALCT2 VAL-198.
    15. "Novel mutations in the GALK1 gene in patients with galactokinase deficiency."
      Hunter M., Angelicheva D., Levy H.L., Pueschel S.M., Kalaydjieva L.
      Hum. Mutat. 17:77-78(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GALCT2 CYS-68; MET-288 AND PRO-384.
    16. "Functional analysis of disease-causing mutations in human galactokinase."
      Timson D.J., Reece R.J.
      Eur. J. Biochem. 270:1767-1774(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS GALCT2 THR-28; MET-32; ARG-36; TYR-44; CYS-68; VAL-198; MET-288; SER-346; SER-349 AND PRO-384.
    17. "Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population."
      Maraini G., Hejtmancik J.F., Shiels A., Mackay D.S., Aldigeri R., Jiao X.D., Williams S.L., Sperduto R.D., Reed G.
      Mol. Vis. 9:397-400(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MET-184; ASP-274 AND ALA-338.
    18. "Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency."
      Sangiuolo F., Magnani M., Stambolian D., Novelli G.
      Hum. Mutat. 23:396-396(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GALCT2 MET-32 AND GLN-239.

    Entry informationi

    Entry nameiGALK1_HUMAN
    AccessioniPrimary (citable) accession number: P51570
    Secondary accession number(s): B2RC07, B4E1G6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: October 1, 1996
    Last modified: October 1, 2014
    This is version 148 of the entry and version 1 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: 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