ID KHK_HUMAN STANDARD; PRT; 298 AA. AC P50053; Q99532; Q9BRJ3; Q9UMN1; DT 01-OCT-1996 (Rel. 34, Created) DT 01-OCT-1996 (Rel. 34, Last sequence update) DT 28-FEB-2003 (Rel. 41, Last annotation update) DE Ketohexokinase (EC 2.7.1.3) (Hepatic fructokinase). GN KHK. OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP SEQUENCE FROM N.A., 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 SEQUENCE FROM N.A. RC TISSUE=Lung; RA Strausberg R.; RL Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases. RN [3] RP SEQUENCE OF 1-26 AND 71-298 FROM N.A., 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 a benign defect of intermediary metabolism. CC -!- SIMILARITY: BELONGS TO THE PFKB FAMILY OF CARBOHYDRATE KINASES. 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; -. DR EMBL; X78677; CAA55346.1; -. DR EMBL; BC006233; AAH06233.1; -. DR EMBL; Y09336; CAA70516.1; -. DR EMBL; Y09341; CAA70522.1; -. DR EMBL; Y09341; CAA70523.1; -. DR EMBL; Y09340; CAA70521.1; -. DR EMBL; AJ005168; CAA06409.1; -. DR Genew; HGNC:6315; KHK. DR MIM; 229800; -. DR GO; GO:0004454; F:ketohexokinase activity; TAS. DR InterPro; IPR002173; PfkB. DR Pfam; PF00294; pfkB; 1. DR PROSITE; PS00583; PFKB_KINASES_1; FALSE_NEG. DR PROSITE; PS00584; PFKB_KINASES_2; FALSE_NEG. KW Transferase; Kinase; Alternative splicing; Disease mutation; KW Polymorphism. FT VARSPLIC 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. 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 //