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Homo sapiens galactokinase 2 (GALK2), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_002044 Homo sapiens galactokinase 2 (GALK2), transcript variant 1, mRNA. ORF Sequence $399.33
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RefSeq Version NM_002044.2, 48527955
Length 3121 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens galactokinase 2 (GALK2), transcript variant 1, mRNA.
Product N-acetylgalactosamine kinase isoform 1
Comment

Summary: This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) encodes the longer isoform (1).


##Evidence-Data-START## Transcript exon combination :: BC005141.2, M84443.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025088 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_002035.1
CDS 99..1475
Misc Feature(1)90..92
Misc Feature(2)150..1463
Misc Feature(3)150..1463
Misc Feature(4)174..317
Misc Feature(5)225..227
Misc Feature(6)243..254
Misc Feature(7)657..668
Misc Feature(8)1146..1388
Exon (1)1..151
Gene:GALK2
Gene Synonym:GK2
Exon (2)152..240
Gene:GALK2
Gene Synonym:GK2
Exon (3)241..364
Gene:GALK2
Gene Synonym:GK2
Exon (4)365..455
Gene:GALK2
Gene Synonym:GK2
Exon (5)456..602
Gene:GALK2
Gene Synonym:GK2
Exon (6)603..701
Gene:GALK2
Gene Synonym:GK2
Exon (7)702..854
Gene:GALK2
Gene Synonym:GK2
Exon (8)855..1065
Gene:GALK2
Gene Synonym:GK2
Exon (9)1066..1267
Gene:GALK2
Gene Synonym:GK2
Exon (10)1268..3121
Gene:GALK2
Gene Synonym:GK2
Translation MATESPATRRVQVAEHPRLLKLKEMFNSKFGSIPKFYVRAPGRVNIIGEHIDYCGYSVLP MAVEQDVLIAVEPVKTYALQLANTNPLYPDFSTSANNIQIDKTKPLWHNYFLCGLKGIQE HFGLSNLTGMNCLVDGNIPPSSGLSSSSALVCCAGLVTLTVLGRNLSKVELAEICAKSER YIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHF NIRVMECRLAAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEI CRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEAARVLQFKKICEEAPENMVQLL GELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSF LANVHKAYYQRSDGSLAPEKQSLFATKPGGGALVLLEA
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Position Chain Variation Link
42+dbSNP:
42+c, tdbSNP:187183178
106+a, cdbSNP:202114334
107+a, gdbSNP:150631282
171+dbSNP:
171+a, gdbSNP:139521545
249+dbSNP:
249+a, gdbSNP:35720727
268+c, tdbSNP:75689896
288+g, tdbSNP:147777330
323+a, cdbSNP:141088521
325+c, g, tdbSNP:147019358
346+a, gdbSNP:117291857
364+c, tdbSNP:149095986
387+dbSNP:
387+a, gdbSNP:150063259
413+a, tdbSNP:143136439
465+dbSNP:
465+c, g, tdbSNP:148234101
523+c, gdbSNP:201904223
575+c, tdbSNP:141479055
636+dbSNP:
636+c, tdbSNP:201505722
642+a, gdbSNP:35507772
643+c, tdbSNP:138250523
676+c, tdbSNP:200800702
684+a, cdbSNP:142740588
735..736+dbSNP:
735..736+, cdbSNP:35345200
758+a, gdbSNP:146167779
778+a, gdbSNP:139978578
841+a, gdbSNP:201091452
849+g, tdbSNP:149420693
850+c, tdbSNP:199727284
926+dbSNP:
926+a, gdbSNP:183088402
973+a, cdbSNP:77917939
1001+a, cdbSNP:75004292
1004+a, gdbSNP:78829055
1006+c, gdbSNP:74851274
1044+a, cdbSNP:144789254
1097+dbSNP:
1097+c, gdbSNP:113276417
1110+a, gdbSNP:148552843
1117+c, tdbSNP:146874010
1118+a, gdbSNP:199834761
1119+c, tdbSNP:144322038
1143+g, tdbSNP:147794087
1297+dbSNP:
1297+c, gdbSNP:139485976
1319+c, tdbSNP:1055254
1351+a, cdbSNP:150920378
1431+a, gdbSNP:200728035
1448+c, tdbSNP:147218231
1464+c, tdbSNP:199516811
1530+c, gdbSNP:182130124
1694+a, tdbSNP:186777348
1703+c, tdbSNP:148622656
1895+c, gdbSNP:77994602
1912+c, tdbSNP:141143208
1925+a, gdbSNP:150159432
1928+a, gdbSNP:145572162
1933+a, gdbSNP:184970229
1987+c, gdbSNP:150753064
2090+, atdbSNP:78262056
2091+, tdbSNP:5812480
2091+, t, ttdbSNP:33957781
2101+, t, ttdbSNP:5812481
2105+, t, ttdbSNP:3075141
2153+a, gdbSNP:190065403
2220+c, tdbSNP:192926937
2278+c, tdbSNP:80110211
2325..2327+, ttcdbSNP:201186301
2334..2335+, ctdbSNP:5812482
2334+, ctdbSNP:3075142
2335..2336+, ctdbSNP:72527389
2336+a, gdbSNP:202094466
2348..2349+, tdbSNP:34484949
2459+c, tdbSNP:185562132
2478+a, gdbSNP:189368783
2554+c, tdbSNP:182022714
2626+g, tdbSNP:185268010
2650+a, cdbSNP:116742387
2729+a, gdbSNP:2078024
3077+g, tdbSNP:188461311
Gene SymbolGALK2
Gene SynonymGK2
Chromosome15
Locus Map15q21.1-q21.2
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001001556 Homo sapiens galactokinase 2 (GALK2), transcript variant 2, mRNA. Full Length $1122.80
ORF Sequence $389.76
NM_002044 Homo sapiens galactokinase 2 (GALK2), transcript variant 1, mRNA. Full Length $1092.35
ORF Sequence $399.33
Title Mechanistic studies on human N-acetylgalactosamine kinase .
Author Agnew,A. and Timson,D.
Journal J Enzyme Inhib Med Chem 25 (3), 370-376 (2010)
Title The molecular architecture of human N-acetylgalactosamine kinase .
Author Thoden,J.B. and Holden,H.M.
Journal J. Biol. Chem. 280 (38), 32784-32791 (2005)
Title Identification of the GalNAc kinase amino acid sequence .
Author Pastuszak,I., O'Donnell,J. and Elbein,A.D.
Journal J. Biol. Chem. 271 (39), 23653-23656 (1996)
Title Kidney N-acetylgalactosamine (GalNAc)-1-phosphate kinase, a new pathway of GalNAc activation .
Author Pastuszak,I., Drake,R. and Elbein,A.D.
Journal J. Biol. Chem. 271 (34), 20776-20782 (1996)
Title Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2 .
Author Ai,Y., Basu,M., Bergsma,D.J. and Stambolian,D.
Journal Biochem. Biophys. Res. Commun. 212 (2), 687-691 (1995)
Title Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast .
Author Lee,R.T., Peterson,C.L., Calman,A.F., Herskowitz,I. and O'Donnell,J.J.
Journal Proc. Natl. Acad. Sci. U.S.A. 89 (22), 10887-10891 (1992)

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