ID KHK_HUMAN STANDARD; PRT; 298 AA. AC P50053; Q99532; DT 01-OCT-1996 (REL. 34, CREATED) DT 01-OCT-1996 (REL. 34, LAST SEQUENCE UPDATE) DT 15-DEC-1998 (REL. 37, LAST ANNOTATION UPDATE) DE KETOHEXOKINASE (EC 2.7.1.3) (HEPATIC FRUCTOKINASE). GN KHK. OS HOMO SAPIENS (HUMAN). OC EUKARYOTA; METAZOA; CHORDATA; VERTEBRATA; MAMMALIA; EUTHERIA; OC PRIMATES; CATARRHINI; HOMINIDAE; HOMO. RN [1] RP SEQUENCE FROM N.A. RX MEDLINE; 95135420. 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 OF 1-26; 71-114 AND 189-298 FROM N.A. RA HAYWARD B.E., BONTHRON D.T.; RL SUBMITTED (DEC-1996) TO EMBL/GENBANK/DDBJ DATA BANKS. CC -!- CATALYTIC ACTIVITY: ATP + D-FRUCTOSE = ADP + D-FRUCTOSE CC 1-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 -!- 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, A BENIGN CC DEFECT OF INTERMEDIARY METABOLISM. CC -!- ALTERNATIVE PRODUCTS: TWO FORMS (A AND C) ARE PRODUCED BY CC ALTERNATIVE SPLICING. THE SEQUENCE SHOWN IS THAT OF FORM A. CC -!- CAUTION: FORM C HAS NOT YET BEEN FULLY SEQUENCED IN ITS N-TERMINAL CC (FROM 1-69). CC -------------------------------------------------------------------------- CC This SWISS-PROT entry is copyright. It is produced through a collaboration CC between the Swiss Institute of Bioinformatics and the EMBL outstation - CC the European Bioinformatics Institute. There are no restrictions on its CC use by non-profit institutions as long as its content is in no way CC modified and this statement is not removed. Usage by and for commercial CC entities requires a license agreement (See http://www.isb-sib.ch/announce/ CC or send an email to license@isb-sib.ch). CC -------------------------------------------------------------------------- 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; G558351; -. DR EMBL; X78677; G558216; -. DR EMBL; Y09336; E286524; -. DR EMBL; Y09338; E286524; -. DR EMBL; Y09341; E303013; -. DR EMBL; Y09341; E303014; -. DR EMBL; Y09340; E281937; -. DR MIM; 229800; -. DR PFAM; PF00294; pfkB; 2. KW TRANSFERASE; KINASE; LIVER; ALTERNATIVE SPLICING; DISEASE MUTATION; KW POLYMORPHISM. FT VARSPLIC 72 115 VLDDLRRYSVDLRYTVFQTTGSVPIATVIINEASGSRTILY FT YDR -> LVADFRRRGVDVSQVAWQSKGDTPSSCCIINNSN FT GNRTIVLHDT (IN FORM C). FT VARIANT 40 40 G -> R (IN FRUCTOSURIA). FT VARIANT 43 43 A -> T (IN FRUCTOSURIA). FT VARIANT 49 49 V -> I. FT VARIANT 159 159 R -> G (EITHER A POLYMORPHISM OR A FT CLONING ARTIFACT). SQ SEQUENCE 298 AA; 32730 MW; 693F80A8 CRC32; 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 //