ID KHK_HUMAN STANDARD; PRT; 298 AA. AC P50053; Q99532; Q9BRJ3; Q9UMN1; DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot. DT 01-OCT-1996, sequence version 1. DT 03-OCT-2006, entry version 54. DE Ketohexokinase (EC 2.7.1.3) (Hepatic fructokinase). GN Name=KHK; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE, VARIANTS FRUCTOSURIA ARG-40 AND THR-43, AND RP VARIANT ILE-49. RX MEDLINE=95135420; PubMed=7833921; RA Bonthron D.T., Brady N., Donaldson I.A., Steinmann B.; RT "Molecular basis of essential fructosuria: molecular cloning and RT mutational analysis of human ketohexokinase (fructokinase)."; RL Hum. Mol. Genet. 3:1627-1631(1994). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Lung; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [3] RP NUCLEOTIDE SEQUENCE OF 1-26 AND 71-298, AND ALTERNATIVE SPLICING. RX MEDLINE=99013450; PubMed=9799106; RA Hayward B.E., Bonthron D.T.; RT "Structure and alternative splicing of the ketohexokinase gene."; RL Eur. J. Biochem. 257:85-91(1998). CC -!- CATALYTIC ACTIVITY: ATP + D-fructose = ADP + D-fructose 1- CC phosphate. CC -!- ENZYME REGULATION: Requires potassium. Inhibition by ADP. CC -!- PATHWAY: Primary metabolism of dietary fructose in mammals. CC -!- SUBUNIT: Dimer of A-A, A-C or C-C (Probable). CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=A; CC IsoId=P50053-1; Sequence=Displayed; CC Name=C; CC IsoId=P50053-2; Sequence=VSP_004669; CC -!- TISSUE SPECIFICITY: Most abundant in liver, kidney, gut, spleen CC and pancreas. Low levels also found in adrenal, muscle, brain and CC eye. CC -!- DISEASE: Defects in KHK are the cause of fructosuria [MIM:229800]. CC Fructosuria is a benign defect of intermediary metabolism. CC -!- SIMILARITY: Belongs to the carbohydrate kinase pfkB family. CC -!- CAUTION: Form C has not yet been fully sequenced in its N-terminal CC (from 1-69). CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; X78678; CAA55347.1; -; mRNA. DR EMBL; X78677; CAA55346.1; -; mRNA. DR EMBL; BC006233; AAH06233.1; -; mRNA. DR EMBL; Y09336; CAA70516.1; -; Genomic_DNA. DR EMBL; Y09341; CAA70522.1; -; Genomic_DNA. DR EMBL; Y09341; CAA70523.1; -; Genomic_DNA. DR EMBL; Y09340; CAA70521.1; -; Genomic_DNA. DR EMBL; AJ005168; CAA06409.1; -; Genomic_DNA. DR UniGene; Hs.567297; -. DR HSSP; Q9TVW2; 1DGM. DR Ensembl; ENSG00000138030; Homo sapiens. DR KEGG; hsa:3795; -. DR H-InvDB; HIX0001908; -. DR HGNC; HGNC:6315; KHK. DR MIM; 229800; gene+phenotype. DR Reactome; P50053; -. DR ArrayExpress; P50053; -. DR RZPD-ProtExp; C0753; -. DR RZPD-ProtExp; RZPDo834D0119; -. DR GO; GO:0004454; F:ketohexokinase activity; TAS. DR InterPro; IPR002173; PfkB. DR InterPro; IPR011611; PfkB_region. DR Pfam; PF00294; PfkB; 2. DR PROSITE; PS00583; PFKB_KINASES_1; FALSE_NEG. DR PROSITE; PS00584; PFKB_KINASES_2; FALSE_NEG. KW Alternative splicing; Carbohydrate metabolism; Disease mutation; KW Kinase; Polymorphism; Transferase. FT CHAIN 1 298 Ketohexokinase. FT /FTId=PRO_0000080088. FT VAR_SEQ 72 115 VLDDLRRYSVDLRYTVFQTTGSVPIATVIINEASGSRTILY FT YDR -> LVADFRRRGVDVSQVAWQSKGDTPSSCCIINNSN FT GNRTIVLHDT (in isoform C). FT /FTId=VSP_004669. FT VARIANT 40 40 G -> R (in fructosuria). FT /FTId=VAR_006072. FT VARIANT 43 43 A -> T (in fructosuria). FT /FTId=VAR_006073. FT VARIANT 49 49 V -> I (in dbSNP:2304681). FT /FTId=VAR_006074. FT VARIANT 159 159 R -> G (either a polymorphism or a FT cloning artifact). FT /FTId=VAR_006075. SQ SEQUENCE 298 AA; 32730 MW; 1BA47BDC60C1B89F CRC64; MEEKQILCVG LVVLDVISLV DKYPKEDSEI RCLSQRWQRG GNASNSCTVL SLLGAPCAFM GSMAPGHVAD FVLDDLRRYS VDLRYTVFQT TGSVPIATVI INEASGSRTI LYYDRSLPDV SATDFEKVDL TQFKWIHIEG RNASEQVKML QRIDAHNTRQ PPEQKIRVSV EVEKPREELF QLFGYGDVVF VSKDVAKHLG FQSAEEALRG LYGRVRKGAV LVCAWAEEGA DALGPDGKLL HSDAFPPPRV VDTLGAGDTF NASVIFSLSQ GRSVQEALRF GCQVAGKKCG LQGFDGIV //