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UniProtKB - P50053 (KHK_HUMAN)

Entry version 196 (07 Apr 2021)
Sequence version 2 (29 Apr 2015)
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Protein

Ketohexokinase

Gene

KHK

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the phosphorylation of the ketose sugar fructose to fructose-1-phosphate.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Requires potassium. Inhibition by ADP.

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

kcat is 7.6 sec(-1).1 Publication
  1. KM=0.8 mM for D-fructose (at 25 degrees Celsius)1 Publication
  2. KM=0.15 mM for Mg-ATP (at 25 degrees Celsius)1 Publication

    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: fructose metabolism

    This protein is involved in the pathway fructose metabolism, which is part of Carbohydrate metabolism.
    View all proteins of this organism that are known to be involved in the pathway fructose metabolism and in Carbohydrate metabolism.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei15Beta-D-fructoseCombined sources1 Publication1
    Binding sitei41Beta-D-fructose; via amide nitrogenCombined sources1
    Binding sitei42Beta-D-fructoseCombined sources1
    Binding sitei45Beta-D-fructoseCombined sources1
    Binding sitei108ATPCombined sources1 Publication1
    Binding sitei258Beta-D-fructoseCombined sources1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi226 – 229ATPCombined sources1 Publication4
    Nucleotide bindingi255 – 258ATPCombined sources1 Publication4

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    Complete GO annotation on QuickGO ...

    GO - Biological processi

    Complete GO annotation on QuickGO ...

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Molecular functionKinase, Transferase
    Biological processCarbohydrate metabolism
    LigandATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...    BioCyci    		MetaCyc:HS06437-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...    BRENDAi    		2.7.1.3, 2681

    Pathway Commons web resource for biological pathway data

    More...    PathwayCommonsi    		P50053

    Reactome - a knowledgebase of biological pathways and processes

    More...    Reactomei    		R-HSA-5657562, Essential fructosuria
    R-HSA-70350, Fructose catabolism

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...    SABIO-RKi    		P50053

    UniPathway: a resource for the exploration and annotation of metabolic pathways

    More...    UniPathwayi    		UPA00202

    <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
    Recommended name:
    KetohexokinaseImported (EC:2.7.1.31 Publication)
    Alternative name(s):
    Hepatic fructokinase
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:KHKImported
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

    Organism-specific databases

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:6315, KHK

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		614058, gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_P50053

    Eukaryotic Pathogen, Vector and Host Database Resources

    More...    VEuPathDBi    		HostDB:ENSG00000138030.12

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    <p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

    Fructosuria (FRUCT)2 Publications
    The disease is caused by variants affecting the gene represented in this entry.
    Disease descriptionBenign defect of intermediary metabolism.
    Related information in OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00607240G → R in FRUCT; loss of ketohexokinase function; insoluble. 2 PublicationsCorresponds to variant dbSNP:rs104893643EnsemblClinVar.1
    Natural variantiVAR_00607343A → T in FRUCT; no effect on ketohexokinase function; decreases enzyme activity but no effect in substrate affinity; decreases thermal stability. 2 PublicationsCorresponds to variant dbSNP:rs104893644EnsemblClinVar.1

    Keywords - Diseasei

    Disease variant

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		3795

    MalaCards human disease database

    More...    MalaCardsi    		KHK
    MIMi229800, phenotype

    Open Targets

    More...    OpenTargetsi    		ENSG00000138030

    Orphanet; a database dedicated to information on rare diseases and orphan drugs

    More...    Orphaneti    		2056, Essential fructosuria

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA30095

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		P50053, Tchem

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...    ChEMBLi    		CHEMBL1275212

    Genetic variation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		KHK

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		1730044

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000800881 – 298KetohexokinaseAdd BLAST298

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...    EPDi    		P50053

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		P50053

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		P50053

    MaxQB - The MaxQuant DataBase

    More...    MaxQBi    		P50053

    PaxDb, a database of protein abundance averages across all three domains of life

    More...    PaxDbi    		P50053

    PeptideAtlas

    More...    PeptideAtlasi    		P50053

    PRoteomics IDEntifications database

    More...    PRIDEi    		P50053

    ProteomicsDB: a multi-organism proteome resource

    More...    ProteomicsDBi    		56192 [P50053-1]
    56193 [P50053-2]

    2D gel databases

    REPRODUCTION-2DPAGE

    More...    REPRODUCTION-2DPAGEi    		IPI00029488

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		P50053

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...    PhosphoSitePlusi    		P50053

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    <p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

    Most abundant in liver, kidney, gut, spleen and pancreas. Low levels also found in adrenal, muscle, brain and eye.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000138030, Expressed in right lobe of liver and 179 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		P50053, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		P50053, HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		ENSG00000138030, Group enriched (intestine, kidney, liver)

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Homodimer.

    1 Publication

    <p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    Hide details

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...    BioGRIDi    		109996, 24 interactors

    Database of interacting proteins

    More...    DIPi    		DIP-50184N

    Protein interaction database and analysis system

    More...    IntActi    		P50053, 8 interactors

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000260599

    Chemistry databases

    BindingDB database of measured binding affinities

    More...    BindingDBi    		P50053

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...    RNActi    		P50053, protein

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    Secondary structure

    1298
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    SWISS-MODEL Repository - a database of annotated 3D protein structure models

    More...    SMRi    		P50053

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    Protein Data Bank in Europe - Knowledge Base

    More...    PDBe-KBi    		Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...    EvolutionaryTracei    		P50053

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    <p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Belongs to the carbohydrate kinase PfkB family.Curated

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...    eggNOGi    		KOG2947, Eukaryota

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00390000007458

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		CLU_027634_3_0_1

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		P50053

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		RMASYKC

    Database of Orthologous Groups

    More...    OrthoDBi    		720391at2759

    TreeFam database of animal gene trees

    More...    TreeFami    		TF323942

    Family and domain databases

    Conserved Domains Database

    More...    CDDi    		cd01939, Ketohexokinase, 1 hit

    Gene3D Structural and Functional Annotation of Protein Families

    More...    Gene3Di    		3.40.1190.20, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...    InterProi    		View protein in InterPro
    IPR034093, KHK
    IPR011611, PfkB_dom
    IPR029056, Ribokinase-like

    Pfam protein domain database

    More...    Pfami    		View protein in Pfam
    PF00294, PfkB, 1 hit

    Superfamily database of structural and functional annotation

    More...    SUPFAMi    		SSF53613, SSF53613, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

    Isoform C1 Publication (identifier: P50053-1) [UniParc]FASTAAdd to basket
    Also known as: Central, hepatic/renal/intestinal1 Publication

    This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MEEKQILCVG LVVLDVISLV DKYPKEDSEI RCLSQRWQRG GNASNSCTVL 
            60         70         80         90        100
    SLLGAPCAFM GSMAPGHVAD FLVADFRRRG VDVSQVAWQS KGDTPSSCCI 
           110        120        130        140        150
    INNSNGNRTI VLHDTSLPDV SATDFEKVDL TQFKWIHIEG RNASEQVKML 
           160        170        180        190        200
    QRIDAHNTRQ PPEQKIRVSV EVEKPREELF QLFGYGDVVF VSKDVAKHLG 
           210        220        230        240        250
    FQSAEEALRG LYGRVRKGAV LVCAWAEEGA DALGPDGKLL HSDAFPPPRV 
           260        270        280        290 
    VDTLGAGDTF NASVIFSLSQ GRSVQEALRF GCQVAGKKCG LQGFDGIV
    Length:298
    Mass (Da):32,523
    Last modified:April 29, 2015 - v2
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iBE77FC325CAC5721
    GO
    Isoform A1 Publication (identifier: P50053-2) [UniParc]FASTAAdd to basket
    Also known as: Peripheral1 Publication

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

    Note: More widely distributed but with a low expression level. KM=7 mM for D-fructose (at 25 degrees Celsius). KM=036 mM for Mg-ATP (at 25 degrees Celsius). kcat is 6.9 sec(-1).1 Publication
    Show »
    Length:298
    Mass (Da):32,730
    Checksum:i1BA47BDC60C1B89F
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    		Gene namesLengthAnnotation
    C9JDL1C9JDL1_HUMAN
    Ketohexokinase
    KHK
    		279Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_00607240G → R in FRUCT; loss of ketohexokinase function; insoluble. 2 PublicationsCorresponds to variant dbSNP:rs104893643EnsemblClinVar.1
    Natural variantiVAR_00607343A → T in FRUCT; no effect on ketohexokinase function; decreases enzyme activity but no effect in substrate affinity; decreases thermal stability. 2 PublicationsCorresponds to variant dbSNP:rs104893644EnsemblClinVar.1
    Natural variantiVAR_00607449V → I1 PublicationCorresponds to variant dbSNP:rs2304681EnsemblClinVar.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00466972 – 115LVADF…VLHDT → VLDDLRRYSVDLRYTVFQTT GSVPIATVIINEASGSRTIL YYDR in isoform A. CuratedAdd BLAST44

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...    EMBLi

    GenBank nucleotide sequence database

    More...    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...    DDBJi
    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

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS1734.1 [P50053-2]
    CCDS1735.1 [P50053-1]

    NCBI Reference Sequences

    More...    RefSeqi    		NP_000212.1, NM_000221.2 [P50053-2]
    NP_006479.1, NM_006488.2 [P50053-1]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000260598; ENSP00000260598; ENSG00000138030 [P50053-1]
    ENST00000260599; ENSP00000260599; ENSG00000138030 [P50053-2]

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		3795

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:3795

    UCSC genome browser

    More...    UCSCi    		uc002ril.3, human [P50053-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    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 [P50053-2]
    CCDS1735.1 [P50053-1]
    RefSeqiNP_000212.1, NM_000221.2 [P50053-2]
    NP_006479.1, NM_006488.2 [P50053-1]

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...    PDBei

    Protein Data Bank RCSB

    More...    RCSB PDBi

    Protein Data Bank Japan

    More...    PDBji
    Links Updated
    		PDB 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[»]
    5WBMX-ray2.16A/B5-298[»]
    5WBOX-ray2.25A/B5-298[»]
    5WBPX-ray2.74A/B5-298[»]
    5WBQX-ray2.40A/B5-298[»]
    5WBRX-ray2.58A/B5-298[»]
    5WBZX-ray2.40A/B5-298[»]
    6W0NX-ray2.41A/B5-298[»]
    6W0WX-ray2.80A/B5-298[»]
    6W0XX-ray2.38A/B5-298[»]
    6W0YX-ray2.54A/B5-298[»]
    6W0ZX-ray2.30A/B5-298[»]
    SMRiP50053
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi109996, 24 interactors
    DIPiDIP-50184N
    IntActiP50053, 8 interactors
    STRINGi9606.ENSP00000260599

    Chemistry databases

    BindingDBiP50053
    ChEMBLiCHEMBL1275212

    PTM databases

    iPTMnetiP50053
    PhosphoSitePlusiP50053

    Genetic variation databases

    BioMutaiKHK
    DMDMi1730044

    2D gel databases

    REPRODUCTION-2DPAGEiIPI00029488

    Proteomic databases

    EPDiP50053
    jPOSTiP50053
    MassIVEiP50053
    MaxQBiP50053
    PaxDbiP50053
    PeptideAtlasiP50053
    PRIDEiP50053
    ProteomicsDBi56192 [P50053-1]
    56193 [P50053-2]

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...    Antibodypediai    		2054, 475 antibodies

    The DNASU plasmid repository

    More...    DNASUi    		3795

    Genome annotation databases

    EnsembliENST00000260598; ENSP00000260598; ENSG00000138030 [P50053-1]
    ENST00000260599; ENSP00000260599; ENSG00000138030 [P50053-2]
    GeneIDi3795
    KEGGihsa:3795
    UCSCiuc002ril.3, human [P50053-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		3795
    DisGeNETi3795

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		KHK
    HGNCiHGNC:6315, KHK
    HPAiENSG00000138030, Group enriched (intestine, kidney, liver)
    MalaCardsiKHK
    MIMi229800, phenotype
    614058, gene
    neXtProtiNX_P50053
    OpenTargetsiENSG00000138030
    Orphaneti2056, Essential fructosuria
    PharmGKBiPA30095
    VEuPathDBiHostDB:ENSG00000138030.12

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG2947, Eukaryota
    GeneTreeiENSGT00390000007458
    HOGENOMiCLU_027634_3_0_1
    InParanoidiP50053
    OMAiRMASYKC
    OrthoDBi720391at2759
    TreeFamiTF323942

    Enzyme and pathway databases

    UniPathwayiUPA00202
    BioCyciMetaCyc:HS06437-MONOMER
    BRENDAi2.7.1.3, 2681
    PathwayCommonsiP50053
    ReactomeiR-HSA-5657562, Essential fructosuria
    R-HSA-70350, Fructose catabolism
    SABIO-RKiP50053

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		3795, 8 hits in 989 CRISPR screens
    EvolutionaryTraceiP50053

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...    GenomeRNAii    		3795
    PharosiP50053, Tchem

    Protein Ontology

    More...    PROi    		PR:P50053
    RNActiP50053, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000138030, Expressed in right lobe of liver and 179 other tissues
    ExpressionAtlasiP50053, baseline and differential
    GenevisibleiP50053, HS

    Family and domain databases

    CDDicd01939, Ketohexokinase, 1 hit
    Gene3Di3.40.1190.20, 1 hit
    InterProiView protein in InterPro
    IPR034093, KHK
    IPR011611, PfkB_dom
    IPR029056, Ribokinase-like
    PfamiView protein in Pfam
    PF00294, PfkB, 1 hit
    SUPFAMiSSF53613, SSF53613, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...    ProtoNeti    		Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...    MobiDBi    		Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKHK_HUMAN
    <p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P50053
    Secondary accession number(s): Q6IBK2
    , Q99532, Q9BRJ3, Q9UMN1
    <p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: April 29, 2015
    Last modified: April 7, 2021
    This is version 196 of the entry and version 2 of the sequence. See complete history.
    <p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

    <p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

    Keywords - Technical termi

    3D-structure, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with genetic variants
      List of human entries with genetic variants
    3. Human variants curated from literature reports
      Index of human variants curated from literature reports
    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
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