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 15-MAR-2004 (Rel. 43, 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; RX MEDLINE=22388257; PubMed=12477932; RA Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G., RA Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D., RA Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K., RA Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F., RA Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L., RA Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E., RA Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C., RA Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J., RA Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H., RA Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W., RA Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A., RA Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A., RA Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G., RA Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C., RA Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M., RA Butterfield Y.S.N., Krzywinski M.I., Skalska U., Smailus D.E., RA Schnerch A., Schein J.E., Jones S.J.M., Marra M.A.; RT "Generation and initial analysis of more than 15,000 full-length RT human and mouse cDNA sequences."; RL Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002). 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 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; -. 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 GK; P50053; -. 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 //