ID KHK_HUMAN STANDARD; PRT; 298 AA. AC P50053; DT 01-OCT-1996 (REL. 34, CREATED) DT 01-OCT-1996 (REL. 34, LAST SEQUENCE UPDATE) DT 01-OCT-1996 (REL. 34, LAST ANNOTATION UPDATE) DE KETOHEXOKINASE (EC 2.7.1.3) (HEPATIC FRUCTOKINASE). GN KHK. OS HOMO SAPIENS (HUMAN). OC EUKARYOTA; METAZOA; CHORDATA; VERTEBRATA; TETRAPODA; MAMMALIA; OC EUTHERIA; PRIMATES. RN [1] RP SEQUENCE FROM N.A. RX MEDLINE; 95135420. RA BONTHRON D.T., BRADY N., DONALDSON I.A., STEINMANN B.; RL HUM. MOL. GENET. 3:1627-1631(1994). CC -!- CATALYTIC ACTIVITY: ATP + D-FRUCTOSE = ADP + D-FRUCTOSE CC 1-PHOSPHATE. CC -!- PATHWAY: PRIMARY METABOLISM OF DIETARY FRUCTOSE IN MAMMALS. CC -!- ENZYME REGULATION: REQUIRES POTASSIUM. INHIBITION BY ADP. 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 -!- ALTERNATIVE PRODUCTS: TWO FORMS (A AND C) ARE PRODUCED BY CC ALTERNATIVE SPLICING. THE SEQUENCE SHOWN IS THAT OF FORM A. CC -!- DISEASE: DEFECTS IN KHK ARE THE CAUSE OF FRUCTOSURIA, A BENIGN CC DEFECT OF INTERMEDIARY METABOLISM. 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; G558351; -. DR EMBL; X78677; G558216; -. DR MIM; 229800; -. KW TRANSFERASE; KINASE; LIVER; ALTERNATIVE SPLICING; DISEASE MUTATION; KW POLYMORPHISM. FT VARSPLIC 72 115 VLDDLRRYSVDLRYTVFQTTGSVPIATVIINEASGSRTILY FT YDR -> LVADFRRRGVDVSQVAWQSKGDTPSSCCIINNSN FT GNRTIVLHDT. 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 //