- HK1
Hexokinase 1, also known as HK1, is a human
gene .PBB_Summary
section_title =
summary_text = Hexokinases phosphorylate glucose to produce glucose-6-phosphate, thus committing glucose to the glycolytic pathway. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in five transcript variants which encode different isoforms, some of which are tissue-specific. Each isoform has a distinct N-terminus; the remainder of the protein is identical among all the isoforms. A sixth transcript variant has been described, but due to the presence of several stop codons, it is not thought to encode a protein.cite web | title = Entrez Gene: HK1 hexokinase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3098| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Murakami K, Kanno H, Tancabelic J, Fujii H |title=Gene expression and biological significance of hexokinase in erythroid cells. |journal=Acta Haematol. |volume=108 |issue= 4 |pages= 204–9 |year= 2003 |pmid= 12432216 |doi=
*cite journal | author=Daniele A, Altruda F, Ferrone M, "et al." |title=Mapping of human hexokinase 1 gene to 10q11----qter. |journal=Hum. Hered. |volume=42 |issue= 2 |pages= 107–10 |year= 1992 |pmid= 1572668 |doi=
*cite journal | author=Magnani M, Bianchi M, Casabianca A, "et al." |title=A recombinant human 'mini'-hexokinase is catalytically active and regulated by hexose 6-phosphates. |journal=Biochem. J. |volume=285 ( Pt 1) |issue= |pages= 193–9 |year= 1992 |pmid= 1637300 |doi=
*cite journal | author=Magnani M, Serafini G, Bianchi M, "et al." |title=Human hexokinase type I microheterogeneity is due to different amino-terminal sequences. |journal=J. Biol. Chem. |volume=266 |issue= 1 |pages= 502–5 |year= 1991 |pmid= 1985912 |doi=
*cite journal | author=Adams V, Griffin LD, Gelb BD, McCabe ER |title=Protein kinase activity of rat brain hexokinase. |journal=Biochem. Biophys. Res. Commun. |volume=177 |issue= 3 |pages= 1101–6 |year= 1991 |pmid= 2059200 |doi=
*cite journal | author=Murakami K, Blei F, Tilton W, "et al." |title=An isozyme of hexokinase specific for the human red blood cell (HKR) |journal=Blood |volume=75 |issue= 3 |pages= 770–5 |year= 1990 |pmid= 2297576 |doi=
*cite journal | author=Nishi S, Seino S, Bell GI |title=Human hexokinase: sequences of amino- and carboxyl-terminal halves are homologous. |journal=Biochem. Biophys. Res. Commun. |volume=157 |issue= 3 |pages= 937–43 |year= 1989 |pmid= 3207429 |doi=
*cite journal | author=Rijksen G, Akkerman JW, van den Wall Bake AW, "et al." |title=Generalized hexokinase deficiency in the blood cells of a patient with nonspherocytic hemolytic anemia. |journal=Blood |volume=61 |issue= 1 |pages= 12–8 |year= 1983 |pmid= 6848140 |doi=
*cite journal | author=Bianchi M, Magnani M |title=Hexokinase mutations that produce nonspherocytic hemolytic anemia. |journal=Blood Cells Mol. Dis. |volume=21 |issue= 1 |pages= 2–8 |year= 1995 |pmid= 7655856 |doi= 10.1006/bcmd.1995.0002
*cite journal | author=Blachly-Dyson E, Zambronicz EB, Yu WH, "et al." |title=Cloning and functional expression in yeast of two human isoforms of the outer mitochondrial membrane channel, the voltage-dependent anion channel. |journal=J. Biol. Chem. |volume=268 |issue= 3 |pages= 1835–41 |year= 1993 |pmid= 8420959 |doi=
*cite journal | author=Aleshin AE, Zeng C, Fromm HJ, Honzatko RB |title=Crystallization and preliminary X-ray analysis of human brain hexokinase. |journal=FEBS Lett. |volume=391 |issue= 1-2 |pages= 9–10 |year= 1996 |pmid= 8706938 |doi=
*cite journal | author=Visconti PE, Olds-Clarke P, Moss SB, "et al." |title=Properties and localization of a tyrosine phosphorylated form of hexokinase in mouse sperm. |journal=Mol. Reprod. Dev. |volume=43 |issue= 1 |pages= 82–93 |year= 1996 |pmid= 8720117 |doi= 10.1002/(SICI)1098-2795(199601)43:1<82::AID-MRD11>3.0.CO;2-6 |doilabel=10.1002/(SICI)1098-2795(199601)43:182::AID-MRD113.0.CO;2-6
*cite journal | author=Mori C, Nakamura N, Welch JE, "et al." |title=Testis-specific expression of mRNAs for a unique human type 1 hexokinase lacking the porin-binding domain. |journal=Mol. Reprod. Dev. |volume=44 |issue= 1 |pages= 14–22 |year= 1997 |pmid= 8722688 |doi= 10.1002/(SICI)1098-2795(199605)44:1<14::AID-MRD2>3.0.CO;2-W |doilabel=10.1002/(SICI)1098-2795(199605)44:114::AID-MRD23.0.CO;2-W
*cite journal | author=Murakami K, Piomelli S |title=Identification of the cDNA for human red blood cell-specific hexokinase isozyme. |journal=Blood |volume=89 |issue= 3 |pages= 762–6 |year= 1997 |pmid= 9028305 |doi=
*cite journal | author=Ruzzo A, Andreoni F, Magnani M |title=An erythroid-specific exon is present in the human hexokinase gene. |journal=Blood |volume=91 |issue= 1 |pages= 363–4 |year= 1998 |pmid= 9414310 |doi=
*cite journal | author=Travis AJ, Foster JA, Rosenbaum NA, "et al." |title=Targeting of a germ cell-specific type 1 hexokinase lacking a porin-binding domain to the mitochondria as well as to the head and fibrous sheath of murine spermatozoa. |journal=Mol. Biol. Cell |volume=9 |issue= 2 |pages= 263–76 |year= 1998 |pmid= 9450953 |doi=
*cite journal | author=Aleshin AE, Zeng C, Bourenkov GP, "et al." |title=The mechanism of regulation of hexokinase: new insights from the crystal structure of recombinant human brain hexokinase complexed with glucose and glucose-6-phosphate. |journal=Structure |volume=6 |issue= 1 |pages= 39–50 |year= 1998 |pmid= 9493266 |doi=
*cite journal | author=Ruzzo A, Andreoni F, Magnani M |title=Structure of the human hexokinase type I gene and nucleotide sequence of the 5' flanking region. |journal=Biochem. J. |volume=331 ( Pt 2) |issue= |pages= 607–13 |year= 1998 |pmid= 9531504 |doi=
*cite journal | author=Aleshin AE, Zeng C, Bartunik HD, "et al." |title=Regulation of hexokinase I: crystal structure of recombinant human brain hexokinase complexed with glucose and phosphate. |journal=J. Mol. Biol. |volume=282 |issue= 2 |pages= 345–57 |year= 1998 |pmid= 9735292 |doi= 10.1006/jmbi.1998.2017
*cite journal | author=Murakami K, Kanno H, Miwa S, Piomelli S |title=Human HKR isozyme: organization of the hexokinase I gene, the erythroid-specific promoter, and transcription initiation site. |journal=Mol. Genet. Metab. |volume=67 |issue= 2 |pages= 118–30 |year= 1999 |pmid= 10356311 |doi= 10.1006/mgme.1999.2842PBB_Controls
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