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Sequence of GALK1_HUMAN

EC Number:2.7.1.6

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
galactokinase
P51570
Homo sapiens
392
42272
Reaction
ATP + alpha-D-galactose = ADP + alpha-D-galactose 1-phosphate
Other sequences found for EC No. 2.7.1.6

General information:

Sequence
show sequence in fasta format
  0 MAALRQPQVA ELLAEARRAF REEFGAEPEL AVSAPGRVNL IGEHTDYNQG LVLPMALELM
 60 TVLVGSPRKD GLVSLLTTSE GADEPQRLQF PLPTAQRSLE PGTPRWANYV KGVIQYYPAA
120 PLPGFSAVVV SSVPLGGGLS SSASLEVATY TFLQQLCPDS GTIAARAQVC QQAEHSFAGM
180 PCGIMDQFIS LMGQKGHALL IDCRSLETSL VPLSDPKLAV LITNSNVRHS LASSEYPVRR
240 RQCEEVARAL GKESLREVQL EELEAARDLV SKEGFRRARH VVGEIRRTAQ AAAALRRGDY
300 RAFGRLMVES HRSLRDDYEV SCPELDQLVE AALAVPGVYG SRMTGGGFGG CTVTLLEASA
360 APHAMRHIQE HYGGTATFYL SQAADGAKVL CL
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Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
546858
Stambolian D.,Ai Y.,Sidjanin D.,Nesburn K.,Sathe G.,Rosenberg M.,Bergsma D.J.
Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
Nat. Genet.
10
307-312
1995
546859
Bergsma D.J.,Ai Y.,Skach W.R.,Nesburn K.,Anoia E.,van Horn S.,Stambolian D.
Fine structure of the human galactokinase GALK1 gene.
Genome Res.
6
980-985
1996
546860
Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Nat. Genet.
36
40-45
2004
546862
Zody M.C.,Garber M.,Adams D.J.,Sharpe T.,Harrow J.,Lupski J.R.,Nicholson C.,Searle S.M.,Wilming L.,Young S.K.,Abouelleil A.,Allen N.R.,Bi W.,Bloom T.,Borowsky M.L.,Bugalter B.E.,Butler J.,Chang J.L.,Chen C.-K.,Cook A.,Corum B.,Cuomo C.A.,de Jong P.J.,DeCaprio D.,Dewar K.,FitzGerald M.,Gilbert J.,Gibson R.,Gnerre S.,Goldstein S.,Grafham D.V.,Grocock R.,Hafez N.,Hagopian D.S.,Hart E.,Norman C.H.,Humphray S.,Jaffe D.B.,Jones M.,Kamal M.,Khodiyar V.K.,LaButti K.,Laird G.,Lehoczky J.,Liu X.,Lokyitsang T.,Loveland J.,Lui A.,Macdonald P.,Major J.E.,Matthews L.,Mauceli E.,McCarroll S.A.,Mihalev A.H.,Mudge J.,Nguyen C.,Nicol R.,O'Leary S.B.,Osoegawa K.,Schwartz D.C.,Shaw-Smith C.,Stankiewicz P.,Steward C.,Swarbreck D.,Venkataraman V.,Whittaker C.A.,Yang X.,Zimmer A.R.,Bradley A.,Hubbard T.,Birren B.W.,Rogers J.,Lander E.S.,Nusbaum C.
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
Nature
440
1045-1049
2006
546864
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
546866
Ai Y.,Basu M.,Bergsma D.J.,Stambolian D.
Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2.
Biochem. Biophys. Res. Commun.
212
687-691
1995
546867
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
546868
Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
J. Proteomics
96
253-262
2014
546869
Vaca Jacome A.S.,Rabilloud T.,Schaeffer-Reiss C.,Rompais M.,Ayoub D.,Lane L.,Bairoch A.,Van Dorsselaer A.,Carapito C.
N-terminome analysis of the human mitochondrial proteome.
Proteomics
15
2519-2524
2015
546870
Thoden J.B.,Timson D.J.,Reece R.J.,Holden H.M.
Molecular structure of human galactokinase: implications for type II galactosemia.
J. Biol. Chem.
280
9662-9670
2005
546871
Kalaydjieva L.,Perez-Lezaun A.,Angelicheva D.,Onengut S.,Dye D.,Bosshard N.U.,Jordanova A.,Savov A.,Yanakiev P.,Kremensky I.,Radeva B.,Hallmayer J.,Markov A.,Nedkova V.,Tournev I.,Aneva L.,Gitzelmann R.
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
Am. J. Hum. Genet.
65
1299-1307
1999
546872
Kolosha V.,Anoia E.,de Cespedes C.,Gitzelmann R.,Shih L.,Casco T.,Saborio M.,Trejos R.,Buist N.,Tedesco T.,Skach W.,Mitelmann O.,Ledee D.,Huang K.,Stambolian D.
Novel mutations in 13 probands with galactokinase deficiency.
Hum. Mutat.
15
447-453
2000
546873
Okano Y.,Asada M.,Fujimoto A.,Ohtake A.,Murayama K.,Hsiao K.-J.,Choeh K.,Yang Y.,Cao Q.,Reichardt J.K.V.,Niihira S.,Imamura T.,Yamano T.
A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, 'Osaka,' in Asians.
Am. J. Hum. Genet.
68
1036-1042
2001
546874
Hunter M.,Angelicheva D.,Levy H.L.,Pueschel S.M.,Kalaydjieva L.
Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
Hum. Mutat.
17
77-78
2001
546875
Timson D.J.,Reece R.J.
Functional analysis of disease-causing mutations in human galactokinase.
Eur. J. Biochem.
270
1767-1774
2003
546876
Maraini G.,Hejtmancik J.F.,Shiels A.,Mackay D.S.,Aldigeri R.,Jiao X.D.,Williams S.L.,Sperduto R.D.,Reed G.
Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.
Mol. Vis.
9
397-400
2003
546877
Sangiuolo F.,Magnani M.,Stambolian D.,Novelli G.
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
Hum. Mutat.
23
396-396
2004