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Q01415

- GALK2_HUMAN

UniProt

Q01415 - GALK2_HUMAN

Protein

N-acetylgalactosamine kinase

Gene

GALK2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 1 (01 Jul 1993)
      Previous versions | rss
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    Functioni

    Acts on GalNAc. Also acts as a galactokinase when galactose is present at high concentrations. May be involved in a salvage pathway for the reutilization of free GalNAc derived from the degradation of complex carbohydrates.1 Publication

    Catalytic activityi

    ATP + N-acetyl-alpha-D-galactosamine = ADP + N-acetyl-alpha-D-galactosamine 1-phosphate.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei43 – 431Transition state stabilizerBy similarity
    Active sitei190 – 1901Proton acceptorBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi139 – 14911ATP1 PublicationAdd
    BLAST

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. galactokinase activity Source: UniProtKB
    3. N-acetylgalactosamine kinase activity Source: UniProtKB-EC

    GO - Biological processi

    1. carbohydrate metabolic process Source: ProtInc
    2. galactose metabolic process Source: InterPro

    Keywords - Molecular functioni

    Kinase, Transferase

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    N-acetylgalactosamine kinase (EC:2.7.1.157)
    Alternative name(s):
    GalNAc kinase
    Galactokinase 2
    Gene namesi
    Name:GALK2
    Synonyms:GK2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:4119. GALK2.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: InterPro

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28534.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 458458N-acetylgalactosamine kinasePRO_0000184647Add
    BLAST

    Proteomic databases

    MaxQBiQ01415.
    PaxDbiQ01415.
    PRIDEiQ01415.

    PTM databases

    PhosphoSiteiQ01415.

    Expressioni

    Gene expression databases

    ArrayExpressiQ01415.
    BgeeiQ01415.
    CleanExiHS_GALK2.
    GenevestigatoriQ01415.

    Organism-specific databases

    HPAiHPA043564.
    HPA048267.

    Interactioni

    Subunit structurei

    Monomer.1 Publication

    Protein-protein interaction databases

    BioGridi108858. 1 interaction.
    MINTiMINT-5004443.
    STRINGi9606.ENSP00000379766.

    Structurei

    Secondary structure

    1
    458
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi8 – 114
    Helixi13 – 153
    Helixi17 – 3014
    Beta strandi35 – 4713
    Helixi52 – 543
    Beta strandi58 – 7316
    Beta strandi75 – 773
    Beta strandi79 – 857
    Beta strandi91 – 933
    Beta strandi102 – 1043
    Helixi107 – 12115
    Beta strandi130 – 1367
    Beta strandi142 – 1443
    Helixi146 – 16217
    Helixi168 – 17912
    Helixi180 – 1823
    Helixi189 – 1968
    Beta strandi201 – 2066
    Turni207 – 2104
    Beta strandi211 – 2155
    Beta strandi221 – 2277
    Helixi234 – 2363
    Helixi239 – 25719
    Turni262 – 2643
    Helixi268 – 2758
    Helixi279 – 28911
    Helixi297 – 3048
    Helixi308 – 3147
    Helixi318 – 3203
    Helixi328 – 35124
    Helixi356 – 37318
    Helixi380 – 39112
    Beta strandi395 – 3995
    Beta strandi404 – 41310
    Helixi414 – 4163
    Helixi417 – 42913
    Beta strandi442 – 4465
    Beta strandi453 – 4575

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2A2CX-ray1.65A1-458[»]
    2A2DX-ray2.20A1-458[»]
    ProteinModelPortaliQ01415.
    SMRiQ01415. Positions 2-458.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ01415.

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni49 – 524Substrate binding
    Regioni187 – 1904Substrate binding

    Sequence similaritiesi

    Belongs to the GHMP kinase family. GalK subfamily.Curated

    Phylogenomic databases

    eggNOGiCOG0153.
    HOGENOMiHOG000241099.
    HOVERGENiHBG051696.
    KOiK00849.
    OMAiRRAGTWG.
    PhylomeDBiQ01415.
    TreeFamiTF324235.

    Family and domain databases

    Gene3Di3.30.230.10. 1 hit.
    3.30.70.890. 2 hits.
    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. 2 hits.
    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: Q01415-1) [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

    MATESPATRR VQVAEHPRLL KLKEMFNSKF GSIPKFYVRA PGRVNIIGEH    50
    IDYCGYSVLP MAVEQDVLIA VEPVKTYALQ LANTNPLYPD FSTSANNIQI 100
    DKTKPLWHNY FLCGLKGIQE HFGLSNLTGM NCLVDGNIPP SSGLSSSSAL 150
    VCCAGLVTLT VLGRNLSKVE LAEICAKSER YIGTEGGGMD QSISFLAEEG 200
    TAKLIEFSPL RATDVKLPSG AVFVIANSCV EMNKAATSHF NIRVMECRLA 250
    AKLLAKYKSL QWDKVLRLEE VQAKLGISLE EMLLVTEDAL HPEPYNPEEI 300
    CRCLGISLEE LRTQILSPNT QDVLIFKLYQ RAKHVYSEAA RVLQFKKICE 350
    EAPENMVQLL GELMNQSHMS CRDMYECSCP ELDQLVDICR KFGAQGSRLT 400
    GAGWGGCTVS MVPADKLPSF LANVHKAYYQ RSDGSLAPEK QSLFATKPGG 450
    GALVLLEA 458
    Length:458
    Mass (Da):50,378
    Last modified:July 1, 1993 - v1
    Checksum:i192B774938F32947
    GO
    Isoform 2 (identifier: Q01415-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-17: MATESPATRRVQVAEHP → MPVLYD

    Show »
    Length:447
    Mass (Da):49,235
    Checksum:i66D4925D605D1A4F
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti182 – 1821I → V.
    Corresponds to variant rs35507772 [ dbSNP | Ensembl ].
    VAR_049123

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1717MATES…VAEHP → MPVLYD in isoform 2. 1 PublicationVSP_042897Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M84443 mRNA. Translation: AAA58612.1.
    AF461816 mRNA. Translation: AAP97708.1.
    BT006901 mRNA. Translation: AAP35547.1.
    AC013452 Genomic DNA. No translation available.
    AC022306 Genomic DNA. No translation available.
    AC036102 Genomic DNA. No translation available.
    BC005141 mRNA. Translation: AAH05141.1.
    CCDSiCCDS32236.1. [Q01415-2]
    CCDS42034.1. [Q01415-1]
    PIRiA46366.
    RefSeqiNP_001001556.1. NM_001001556.2. [Q01415-2]
    NP_002035.1. NM_002044.3. [Q01415-1]
    UniGeneiHs.122006.
    Hs.738080.
    Hs.738534.

    Genome annotation databases

    EnsembliENST00000327171; ENSP00000316632; ENSG00000156958. [Q01415-2]
    ENST00000560031; ENSP00000453129; ENSG00000156958. [Q01415-1]
    GeneIDi2585.
    KEGGihsa:2585.
    UCSCiuc001zxi.1. human. [Q01415-2]
    uc001zxj.1. human. [Q01415-1]

    Polymorphism databases

    DMDMi399518.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M84443 mRNA. Translation: AAA58612.1 .
    AF461816 mRNA. Translation: AAP97708.1 .
    BT006901 mRNA. Translation: AAP35547.1 .
    AC013452 Genomic DNA. No translation available.
    AC022306 Genomic DNA. No translation available.
    AC036102 Genomic DNA. No translation available.
    BC005141 mRNA. Translation: AAH05141.1 .
    CCDSi CCDS32236.1. [Q01415-2 ]
    CCDS42034.1. [Q01415-1 ]
    PIRi A46366.
    RefSeqi NP_001001556.1. NM_001001556.2. [Q01415-2 ]
    NP_002035.1. NM_002044.3. [Q01415-1 ]
    UniGenei Hs.122006.
    Hs.738080.
    Hs.738534.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2A2C X-ray 1.65 A 1-458 [» ]
    2A2D X-ray 2.20 A 1-458 [» ]
    ProteinModelPortali Q01415.
    SMRi Q01415. Positions 2-458.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108858. 1 interaction.
    MINTi MINT-5004443.
    STRINGi 9606.ENSP00000379766.

    PTM databases

    PhosphoSitei Q01415.

    Polymorphism databases

    DMDMi 399518.

    Proteomic databases

    MaxQBi Q01415.
    PaxDbi Q01415.
    PRIDEi Q01415.

    Protocols and materials databases

    DNASUi 2585.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000327171 ; ENSP00000316632 ; ENSG00000156958 . [Q01415-2 ]
    ENST00000560031 ; ENSP00000453129 ; ENSG00000156958 . [Q01415-1 ]
    GeneIDi 2585.
    KEGGi hsa:2585.
    UCSCi uc001zxi.1. human. [Q01415-2 ]
    uc001zxj.1. human. [Q01415-1 ]

    Organism-specific databases

    CTDi 2585.
    GeneCardsi GC15P049447.
    HGNCi HGNC:4119. GALK2.
    HPAi HPA043564.
    HPA048267.
    MIMi 137028. gene.
    neXtProti NX_Q01415.
    PharmGKBi PA28534.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0153.
    HOGENOMi HOG000241099.
    HOVERGENi HBG051696.
    KOi K00849.
    OMAi RRAGTWG.
    PhylomeDBi Q01415.
    TreeFami TF324235.

    Miscellaneous databases

    EvolutionaryTracei Q01415.
    GenomeRNAii 2585.
    NextBioi 10227.
    PROi Q01415.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q01415.
    Bgeei Q01415.
    CleanExi HS_GALK2.
    Genevestigatori Q01415.

    Family and domain databases

    Gene3Di 3.30.230.10. 1 hit.
    3.30.70.890. 2 hits.
    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. 2 hits.
    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 a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast."
      Lee R.T., Peterson C.L., Calman A.F., Herskowitz I., O'Donnell J.J.
      Proc. Natl. Acad. Sci. U.S.A. 89:10887-10891(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. Guo J.H., Zan Q., Yu L.
      Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    3. "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 (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    4. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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: Placenta.
    6. "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.
    7. "Identification of the GalNAc kinase amino acid sequence."
      Pastuszak I., O'Donnell J., Elbein A.D.
      J. Biol. Chem. 271:23653-23656(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: POSSIBLE FUNCTION.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "The molecular architecture of human N-acetylgalactosamine kinase."
      Thoden J.B., Holden H.M.
      J. Biol. Chem. 280:32784-32791(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.65 ANGSTROMS) IN COMPLEX WITH GALNAC AND ATP, SUBUNIT, FUNCTION, SUBSTRATE-BINDING SITES.

    Entry informationi

    Entry nameiGALK2_HUMAN
    AccessioniPrimary (citable) accession number: Q01415
    Secondary accession number(s): Q7Z4Q4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: July 1, 1993
    Last modified: October 1, 2014
    This is version 140 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, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3