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Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.


RefSeq Accession Definition Services Price Order
NM_033496 Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. ORF Sequence $797.79
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Antibody Services
Protein Services


RefSeq Version NM_033496.2, 188497748
Length 3614 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.
Product hexokinase-1 isoform HKI-R
Comment

Summary: Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. 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. [provided by RefSeq, Apr 2009].


Transcript Variant: Variant 2 (HKI-R) encodes the erythroid-specific isoform. Isoform HKI-R lacks the porin binding domain (PBD), which mediates association with the mitochondrial membrane, and thus localizes to the cytoplasm. Variant 2 includes an erythroid-specific exon in the 5' end which encodes a distinct N-terminus.

RefSeq NP_277031.1
CDS 102..2852
Misc Feature(1)75..77
Misc Feature(2)162..1478
Misc Feature(3)162..1478
Misc Feature(4)339..887
Misc Feature(5)order(348..359,363..365,369..371,723..725,783..794)
Misc Feature(6)765..1478
Misc Feature(7)1482..2819
Misc Feature(8)1683..>2174
Misc Feature(9)order(1692..1703,1707..1709,1713..1715,2067..2069,
Misc Feature(10)2112..2819
Exon (1)1..161
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Exon (2)162..324
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Exon (3)325..473
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Exon (4)474..593
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Exon (5)594..689
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Exon (6)690..789
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Exon (7)790..973
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Exon (8)974..1129
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Exon (9)1130..1363
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Exon (10)1364..1668
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Exon (11)1669..1817
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Exon (12)1818..1937
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Exon (13)1938..2033
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Exon (14)2034..2133
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Exon (15)2134..2317
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Exon (16)2318..2473
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Exon (17)2474..2707
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Exon (18)2708..3599
Gene:HK1
Gene Synonym:HK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Translation MDCEHSLSLPCRGAEAWEIGIDKYLYAMRLSDETLIDIMTRFRKEMKNGLSRDFNPTATV KMLPTFVRSIPDGSEKGDFIALDLGGSSFRILRVQVNHEKNQNVHMESEVYDTPENIVHG SGSQLFDHVAECLGDFMEKRKIKDKKLPVGFTFSFPCQQSKIDEAILITWTKRFKASGVE GADVVKLLNKAIKKRGDYDANIVAVVNDTVGTMMTCGYDDQHCEVGLIIGTGTNACYMEE LRHIDLVEGDEGRMCINTEWGAFGDDGSLEDIRTEFDREIDRGSLNPGKQLFEKMVSGMY LGELVRLILVKMAKEGLLFEGRITPELLTRGKFNTSDVSAIEKNKEGLHNAKEILTRLGV EPSDDDCVSVQHVCTIVSFRSANLVAATLGAILNRLRDNKGTPRLRTTVGVDGSLYKTHP QYSRRFHKTLRRLVPDSDVRFLLSESGSGKGAAMVTAVAYRLAEQHRQIEETLAHFHLTK DMLLEVKKRMRAEMELGLRKQTHNNAVVKMLPSFVRRTPDGTENGDFLALDLGGTNFRVL LVKIRSGKKRTVEMHNKIYAIPIEIMQGTGEELFDHIVSCISDFLDYMGIKGPRMPLGFT FSFPCQQTSLDAGILITWTKGFKATDCVGHDVVTLLRDAIKRREEFDLDVVAVVNDTVGT MMTCAYEEPTCEVGLIVGTGSNACYMEEMKNVEMVEGDQGQMCINMEWGAFGDNGCLDDI RTHYDRLVDEYSLNAGKQRYEKMISGMYLGEIVRNILIDFTKKGFLFRGQISETLKTRGI FETKFLSQIESDRLALLQVRAILQQLGLNSTCDDSILVKTVCGVVSRRAAQLCGAGMAAV VDKIRENRGLDRLNVTVGVDGTLYKLHPHFSRIMHQTVKELSPKCNVSFLLSEDGSGKGA ALITAVGVRLRTEASS
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Position Chain Variation Link
69+dbSNP:
69+g, tdbSNP:77682879
101+a, gdbSNP:151233119
138+g, tdbSNP:201670785
142+c, tdbSNP:184545682
176+dbSNP:
176+c, gdbSNP:1133189
182+c, tdbSNP:201893778
194+c, tdbSNP:149919826
270+a, cdbSNP:77614723
296+a, tdbSNP:34410083
394+dbSNP:
394+a, gdbSNP:201072105
470+c, tdbSNP:200234561
578+dbSNP:
578+a, gdbSNP:2228284
632+dbSNP:
632+c, tdbSNP:145719365
679+a, gdbSNP:190318420
687+c, gdbSNP:138198944
716+dbSNP:
716+g, tdbSNP:141258173
757+a, gdbSNP:111978217
758+c, tdbSNP:191140928
851+dbSNP:
851+c, tdbSNP:143391625
896+c, tdbSNP:35378602
926+a, gdbSNP:41279658
1038+dbSNP:
1038+a, gdbSNP:200379909
1047+a, gdbSNP:202028638
1056+c, tdbSNP:141581723
1076+a, gdbSNP:150869156
1098+c, tdbSNP:189866037
1113+a, gdbSNP:138492927
1127+a, cdbSNP:185200014
1170+dbSNP:
1170+c, tdbSNP:147132442
1203+a, gdbSNP:143502069
1208+a, gdbSNP:147176188
1272+a, gdbSNP:140290094
1290+a, cdbSNP:142724189
1355+a, gdbSNP:144445980
1412+dbSNP:
1412+c, tdbSNP:199988774
1419+c, tdbSNP:148472311
1445+c, tdbSNP:142710265
1475+g, tdbSNP:150977497
1490+c, gdbSNP:192297958
1506+a, gdbSNP:139936974
1524+c, tdbSNP:113893857
1531+a, gdbSNP:144282713
1541+a, gdbSNP:748235
1577+c, tdbSNP:141299323
1613+c, tdbSNP:140498607
1620+a, gdbSNP:145718031
1643+c, tdbSNP:61751207
1658+c, tdbSNP:200419488
1661+c, tdbSNP:145919021
1684+dbSNP:
1684+c, tdbSNP:137853249
1713+c, tdbSNP:200042335
1778+c, tdbSNP:199870318
1901+dbSNP:
1901+a, gdbSNP:200291189
1925+a, gdbSNP:148999865
1934+c, tdbSNP:143834023
1955+dbSNP:
1955+a, gdbSNP:138467910
1982+c, tdbSNP:201425600
2018+a, gdbSNP:144039188
2105+dbSNP:
2105+a, gdbSNP:117797901
2138+dbSNP:
2138+c, tdbSNP:2229387
2273+c, tdbSNP:138698348
2274..2275+, adbSNP:34747241
2286+a, gdbSNP:1054202
2324+dbSNP:
2324+a, gdbSNP:141211718
2424+a, cdbSNP:1054203
2437+a, gdbSNP:200751311
2463+c, gdbSNP:113021525
2468+a, c, tdbSNP:150711083
2537+dbSNP:
2537+c, tdbSNP:139053083
2552+c, tdbSNP:149531762
2564+g, tdbSNP:144185641
2566..2567+, gdbSNP:34015903
2567+c, tdbSNP:201668805
2595+c, gdbSNP:139917475
2604+g, tdbSNP:143324021
2634+c, tdbSNP:146727978
2636+c, tdbSNP:10998760
2639+g, tdbSNP:61751208
2652+a, gdbSNP:142362924
2681+c, tdbSNP:145610109
2711+dbSNP:
2711+c, tdbSNP:34616021
2731+c, tdbSNP:150481224
2756+c, tdbSNP:147758343
2789+c, tdbSNP:14006
2804+c, gdbSNP:201076725
2858+c, tdbSNP:13139
2874+c, gdbSNP:3750793
2902+c, tdbSNP:200311919
2910+c, gdbSNP:182986436
2932+g, tdbSNP:12751
3020+c, tdbSNP:116971854
3048+a, gdbSNP:115165850
3073+a, gdbSNP:11556966
3120+g, tdbSNP:146521595
3181+a, tdbSNP:14382
3236+c, tdbSNP:187241214
3242+c, tdbSNP:12216
3276+a, gdbSNP:41279664
3449+g, tdbSNP:1803712
3458+c, gdbSNP:190145407
3478+a, gdbSNP:112135075
3499+c, tdbSNP:5030886
3551+c, gdbSNP:138566183
Gene SymbolHK1
Gene SynonymHK1-ta; HK1-tb; HK1-tc; HKI; HXK1
Chromosome10
Locus Map10q22
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000188 Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. Full Length $1265.95
ORF Sequence $798.66
NM_033496 Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. Full Length $1264.90
ORF Sequence $797.79
NM_033497 Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. Full Length $1341.20
ORF Sequence $802.14
NM_033498 Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA. Full Length $1360.10
ORF Sequence $802.14
NM_033500 Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA. Full Length $1392.65
ORF Sequence $788.22
Title Keratin 8/18 regulation of glucose metabolism in normal versus cancerous hepatic cells through differential modulation of hexokinase status and insulin signaling .
Author Mathew,J., Loranger,A., Gilbert,S., Faure,R. and Marceau,N.
Journal Exp. Cell Res. 319 (4), 474-486 (2013)
Title Mitochondrial hexokinase HKI is a novel substrate of the Parkin ubiquitin ligase .
Author Okatsu,K., Iemura,S., Koyano,F., Go,E., Kimura,M., Natsume,T., Tanaka,K. and Matsuda,N.
Journal Biochem. Biophys. Res. Commun. 428 (1), 197-202 (2012)
Title Mitochondrial detachment of hexokinase 1 in mood and psychotic disorders: implications for brain energy metabolism and neurotrophic signaling .
Author Regenold,W.T., Pratt,M., Nekkalapu,S., Shapiro,P.S., Kristian,T. and Fiskum,G.
Journal J Psychiatr Res 46 (1), 95-104 (2012)
Title Studies of a genetic variant in HK1 in relation to quantitative metabolic traits and to the prevalence of type 2 diabetes .
Author Gjesing,A.P., Nielsen,A.A., Brandslund,I., Christensen,C., Sandbaek,A., Jorgensen,T., Witte,D., Bonnefond,A., Froguel,P., Hansen,T. and Pedersen,O.
Journal BMC Med. Genet. 12, 99 (2011)
Title Amyloid-beta triggers the release of neuronal hexokinase 1 from mitochondria .
Author Saraiva,L.M., Seixas da Silva,G.S., Galina,A., da-Silva,W.S., Klein,W.L., Ferreira,S.T. and De Felice,F.G.
Journal PLoS ONE 5 (12), E15230 (2010)
Title A recombinant human 'mini'-hexokinase is catalytically active and regulated by hexose 6-phosphates .
Author Magnani,M., Bianchi,M., Casabianca,A., Stocchi,V., Daniele,A., Altruda,F., Ferrone,M. and Silengo,L.
Journal Biochem. J. 285 (PT 1), 193-199 (1992)
Title Mapping of human hexokinase 1 gene to 10q11----qter .
Author Daniele,A., Altruda,F., Ferrone,M., Silengo,L., Romeo,G., Archidiacono,N. and Rocchi,M.
Journal Hum. Hered. 42 (2), 107-110 (1992)
Title Protein kinase activity of rat brain hexokinase .
Author Adams,V., Griffin,L.D., Gelb,B.D. and McCabe,E.R.
Journal Biochem. Biophys. Res. Commun. 177 (3), 1101-1106 (1991)
Title Human hexokinase type I microheterogeneity is due to different amino-terminal sequences .
Author Magnani,M., Serafini,G., Bianchi,M., Casabianca,A. and Stocchi,V.
Journal J. Biol. Chem. 266 (1), 502-505 (1991)
Title An isozyme of hexokinase specific for the human red blood cell (HKR) .
Author Murakami,K., Blei,F., Tilton,W., Seaman,C. and Piomelli,S.
Journal Blood 75 (3), 770-775 (1990)

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