Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(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)

P50053

- KHK_HUMAN

UniProt

P50053 - KHK_HUMAN

Protein

Ketohexokinase

Gene

KHK

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Catalytic activityi

    ATP + D-fructose = ADP + D-fructose 1-phosphate.

    Enzyme regulationi

    Requires potassium. Inhibition by ADP.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei15 – 151D-fructose
    Binding sitei41 – 411D-fructose; via amide nitrogen
    Binding sitei42 – 421D-fructose
    Binding sitei45 – 451D-fructose
    Binding sitei108 – 1081ATP
    Binding sitei258 – 2581D-fructose

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi255 – 2584ATP

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. ketohexokinase activity Source: Reactome

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. carbohydrate phosphorylation Source: GOC
    3. fructose catabolic process Source: Reactome
    4. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Kinase, Transferase

    Keywords - Biological processi

    Carbohydrate metabolism

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS06437-MONOMER.
    BRENDAi2.7.1.3. 2681.
    ReactomeiREACT_1571. Fructose catabolism.
    SABIO-RKP50053.
    UniPathwayiUPA00202.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ketohexokinase (EC:2.7.1.3)
    Alternative name(s):
    Hepatic fructokinase
    Gene namesi
    Name:KHK
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:6315. KHK.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: LIFEdb
    2. cytosol Source: Reactome
    3. extracellular vesicular exosome Source: UniProt

    Pathology & Biotechi

    Involvement in diseasei

    Fructosuria (FRUCT) [MIM:229800]: Benign defect of intermediary metabolism.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti40 – 401G → R in FRUCT. 1 Publication
    VAR_006072
    Natural varianti43 – 431A → T in FRUCT. 1 Publication
    VAR_006073

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi229800. phenotype.
    Orphaneti2056. Essential fructosuria.
    PharmGKBiPA30095.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 298298KetohexokinasePRO_0000080088Add
    BLAST

    Proteomic databases

    MaxQBiP50053.
    PaxDbiP50053.
    PRIDEiP50053.

    2D gel databases

    REPRODUCTION-2DPAGEIPI00029488.

    PTM databases

    PhosphoSiteiP50053.

    Expressioni

    Tissue specificityi

    Most abundant in liver, kidney, gut, spleen and pancreas. Low levels also found in adrenal, muscle, brain and eye.

    Gene expression databases

    ArrayExpressiP50053.
    BgeeiP50053.
    CleanExiHS_KHK.
    GenevestigatoriP50053.

    Organism-specific databases

    HPAiHPA007040.

    Interactioni

    Subunit structurei

    Homodimer.1 Publication

    Protein-protein interaction databases

    BioGridi109996. 12 interactions.
    STRINGi9606.ENSP00000260598.

    Structurei

    Secondary structure

    1
    298
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi5 – 106
    Beta strandi13 – 2210
    Beta strandi29 – 313
    Beta strandi33 – 419
    Helixi42 – 5312
    Beta strandi57 – 637
    Helixi67 – 7812
    Beta strandi86 – 883
    Beta strandi90 – 923
    Beta strandi96 – 1027
    Turni103 – 1053
    Beta strandi108 – 1136
    Helixi122 – 1265
    Helixi130 – 1323
    Beta strandi133 – 1397
    Helixi143 – 15715
    Helixi162 – 1643
    Beta strandi167 – 1726
    Helixi177 – 1848
    Beta strandi185 – 1917
    Helixi193 – 1986
    Helixi204 – 2118
    Helixi212 – 2143
    Beta strandi220 – 2245
    Helixi226 – 2283
    Beta strandi230 – 2334
    Beta strandi239 – 2424
    Helixi256 – 26914
    Helixi274 – 28916
    Beta strandi291 – 2944
    Helixi295 – 2973

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2HLZX-ray1.85A/B/C/D5-298[»]
    2HQQX-ray1.86A1-298[»]
    2HW1X-ray2.10A1-298[»]
    3B3LX-ray2.90A/B/C/D1-298[»]
    3NBVX-ray2.30A/B5-298[»]
    3NBWX-ray2.34A/B5-298[»]
    3NC2X-ray2.50A/B5-298[»]
    3NC9X-ray2.40A/B5-298[»]
    3NCAX-ray2.60A/B5-298[»]
    3Q92X-ray2.80A/B5-298[»]
    3QA2X-ray2.52A/B5-298[»]
    3QAIX-ray2.70A/B5-298[»]
    3RO4X-ray2.60A/B5-298[»]
    ProteinModelPortaliP50053.
    SMRiP50053. Positions 5-298.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP50053.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the carbohydrate kinase PfkB family.Curated

    Phylogenomic databases

    eggNOGiCOG0524.
    HOGENOMiHOG000212926.
    HOVERGENiHBG003335.
    InParanoidiP50053.
    KOiK00846.
    OMAiHVADFLV.
    OrthoDBiEOG7K6PV6.
    PhylomeDBiP50053.
    TreeFamiTF323942.

    Family and domain databases

    Gene3Di3.40.1190.20. 1 hit.
    InterProiIPR011611. PfkB_dom.
    IPR029056. Ribokinase-like.
    [Graphical view]
    PfamiPF00294. PfkB. 1 hit.
    [Graphical view]
    SUPFAMiSSF53613. SSF53613. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform A (identifier: P50053-1) [UniParc]FASTAAdd to Basket

    Also known as: Central, hepatic/renal/intestinal

    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

    MEEKQILCVG LVVLDVISLV DKYPKEDSEI RCLSQRWQRG GNASNSCTVL    50
    SLLGAPCAFM GSMAPGHVAD FVLDDLRRYS VDLRYTVFQT TGSVPIATVI 100
    INEASGSRTI LYYDRSLPDV SATDFEKVDL TQFKWIHIEG RNASEQVKML 150
    QRIDAHNTRQ PPEQKIRVSV EVEKPREELF QLFGYGDVVF VSKDVAKHLG 200
    FQSAEEALRG LYGRVRKGAV LVCAWAEEGA DALGPDGKLL HSDAFPPPRV 250
    VDTLGAGDTF NASVIFSLSQ GRSVQEALRF GCQVAGKKCG LQGFDGIV 298
    Length:298
    Mass (Da):32,730
    Last modified:October 1, 1996 - v1
    Checksum:i1BA47BDC60C1B89F
    GO
    Isoform C (identifier: P50053-2) [UniParc]FASTAAdd to Basket

    Also known as: Peripheral

    The sequence of this isoform differs from the canonical sequence as follows:
         72-115: VLDDLRRYSV...GSRTILYYDR → LVADFRRRGV...GNRTIVLHDT

    Note: More widely distributed but with a low expression level.

    Show »
    Length:298
    Mass (Da):32,523
    Checksum:iBE77FC325CAC5721
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti40 – 401G → R in FRUCT. 1 Publication
    VAR_006072
    Natural varianti43 – 431A → T in FRUCT. 1 Publication
    VAR_006073
    Natural varianti49 – 491V → I.1 Publication
    Corresponds to variant rs2304681 [ dbSNP | Ensembl ].
    VAR_006074
    Natural varianti159 – 1591R → G Either a polymorphism or a cloning artifact.
    VAR_006075

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei72 – 11544VLDDL…LYYDR → LVADFRRRGVDVSQVAWQSK GDTPSSCCIINNSNGNRTIV LHDT in isoform C. CuratedVSP_004669Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X78678 mRNA. Translation: CAA55347.1.
    X78677 mRNA. Translation: CAA55346.1.
    CR456801 mRNA. Translation: CAG33082.1.
    AC013403 Genomic DNA. Translation: AAX93167.1.
    CH471053 Genomic DNA. Translation: EAX00643.1.
    BC006233 mRNA. Translation: AAH06233.1.
    Y09336 Genomic DNA. Translation: CAA70516.1.
    Y09341 Genomic DNA. Translation: CAA70522.1.
    Y09341 Genomic DNA. Translation: CAA70523.1.
    Y09340 Genomic DNA. Translation: CAA70521.1.
    AJ005168 Genomic DNA. Translation: CAA06409.1.
    CCDSiCCDS1734.1. [P50053-1]
    CCDS1735.1. [P50053-2]
    RefSeqiNP_000212.1. NM_000221.2. [P50053-1]
    NP_006479.1. NM_006488.2. [P50053-2]
    UniGeneiHs.567297.

    Genome annotation databases

    EnsembliENST00000260598; ENSP00000260598; ENSG00000138030. [P50053-2]
    ENST00000260599; ENSP00000260599; ENSG00000138030. [P50053-1]
    GeneIDi3795.
    KEGGihsa:3795.
    UCSCiuc002ril.2. human. [P50053-1]
    uc002rim.2. human. [P50053-2]

    Polymorphism databases

    DMDMi1730044.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X78678 mRNA. Translation: CAA55347.1 .
    X78677 mRNA. Translation: CAA55346.1 .
    CR456801 mRNA. Translation: CAG33082.1 .
    AC013403 Genomic DNA. Translation: AAX93167.1 .
    CH471053 Genomic DNA. Translation: EAX00643.1 .
    BC006233 mRNA. Translation: AAH06233.1 .
    Y09336 Genomic DNA. Translation: CAA70516.1 .
    Y09341 Genomic DNA. Translation: CAA70522.1 .
    Y09341 Genomic DNA. Translation: CAA70523.1 .
    Y09340 Genomic DNA. Translation: CAA70521.1 .
    AJ005168 Genomic DNA. Translation: CAA06409.1 .
    CCDSi CCDS1734.1. [P50053-1 ]
    CCDS1735.1. [P50053-2 ]
    RefSeqi NP_000212.1. NM_000221.2. [P50053-1 ]
    NP_006479.1. NM_006488.2. [P50053-2 ]
    UniGenei Hs.567297.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2HLZ X-ray 1.85 A/B/C/D 5-298 [» ]
    2HQQ X-ray 1.86 A 1-298 [» ]
    2HW1 X-ray 2.10 A 1-298 [» ]
    3B3L X-ray 2.90 A/B/C/D 1-298 [» ]
    3NBV X-ray 2.30 A/B 5-298 [» ]
    3NBW X-ray 2.34 A/B 5-298 [» ]
    3NC2 X-ray 2.50 A/B 5-298 [» ]
    3NC9 X-ray 2.40 A/B 5-298 [» ]
    3NCA X-ray 2.60 A/B 5-298 [» ]
    3Q92 X-ray 2.80 A/B 5-298 [» ]
    3QA2 X-ray 2.52 A/B 5-298 [» ]
    3QAI X-ray 2.70 A/B 5-298 [» ]
    3RO4 X-ray 2.60 A/B 5-298 [» ]
    ProteinModelPortali P50053.
    SMRi P50053. Positions 5-298.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109996. 12 interactions.
    STRINGi 9606.ENSP00000260598.

    Chemistry

    BindingDBi P50053.
    ChEMBLi CHEMBL1275212.

    PTM databases

    PhosphoSitei P50053.

    Polymorphism databases

    DMDMi 1730044.

    2D gel databases

    REPRODUCTION-2DPAGE IPI00029488.

    Proteomic databases

    MaxQBi P50053.
    PaxDbi P50053.
    PRIDEi P50053.

    Protocols and materials databases

    DNASUi 3795.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000260598 ; ENSP00000260598 ; ENSG00000138030 . [P50053-2 ]
    ENST00000260599 ; ENSP00000260599 ; ENSG00000138030 . [P50053-1 ]
    GeneIDi 3795.
    KEGGi hsa:3795.
    UCSCi uc002ril.2. human. [P50053-1 ]
    uc002rim.2. human. [P50053-2 ]

    Organism-specific databases

    CTDi 3795.
    GeneCardsi GC02P027309.
    HGNCi HGNC:6315. KHK.
    HPAi HPA007040.
    MIMi 229800. phenotype.
    614058. gene.
    neXtProti NX_P50053.
    Orphaneti 2056. Essential fructosuria.
    PharmGKBi PA30095.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0524.
    HOGENOMi HOG000212926.
    HOVERGENi HBG003335.
    InParanoidi P50053.
    KOi K00846.
    OMAi HVADFLV.
    OrthoDBi EOG7K6PV6.
    PhylomeDBi P50053.
    TreeFami TF323942.

    Enzyme and pathway databases

    UniPathwayi UPA00202 .
    BioCyci MetaCyc:HS06437-MONOMER.
    BRENDAi 2.7.1.3. 2681.
    Reactomei REACT_1571. Fructose catabolism.
    SABIO-RK P50053.

    Miscellaneous databases

    EvolutionaryTracei P50053.
    GenomeRNAii 3795.
    NextBioi 14897.
    PROi P50053.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P50053.
    Bgeei P50053.
    CleanExi HS_KHK.
    Genevestigatori P50053.

    Family and domain databases

    Gene3Di 3.40.1190.20. 1 hit.
    InterProi IPR011611. PfkB_dom.
    IPR029056. Ribokinase-like.
    [Graphical view ]
    Pfami PF00294. PfkB. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53613. SSF53613. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)."
      Bonthron D.T., Brady N., Donaldson I.A., Steinmann B.
      Hum. Mol. Genet. 3:1627-1631(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS FRUCT ARG-40 AND THR-43, VARIANT ILE-49.
    2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. 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].
      Tissue: Lung.
    6. "Structure and alternative splicing of the ketohexokinase gene."
      Hayward B.E., Bonthron D.T.
      Eur. J. Biochem. 257:85-91(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-26 AND 71-298, ALTERNATIVE SPLICING.
    7. "Structures of alternatively spliced isoforms of human ketohexokinase."
      Trinh C.H., Asipu A., Bonthron D.T., Phillips S.E.
      Acta Crystallogr. D 65:201-211(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.10 ANGSTROMS) IN COMPLEX WITH FRUCTOSE AND AMP-PNP, X-RAY CRYSTALLOGRAPHY (1.86 ANGSTROMS) OF ISOFORM C, SUBUNIT, SUBSTRATE-BINDING SITES.

    Entry informationi

    Entry nameiKHK_HUMAN
    AccessioniPrimary (citable) accession number: P50053
    Secondary accession number(s): Q6IBK2
    , Q99532, Q9BRJ3, Q9UMN1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: October 1, 1996
    Last modified: October 1, 2014
    This is version 139 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 2
      Human chromosome 2: 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