Showing Protein Galactokinase (HMDBP01379)

• 6675

1. Galactose kinase

• Amino sugar and nucleotide sugar metabolism
• Galactose metabolism
• Galactose Metabolism
• Galactosemia
• Galactosemia II (GALK)
• Galactosemia III
• Nucleotide Sugars Metabolism

>1179 bp
ATGGCTGCTTTGAGACAGCCCCAGGTCGCGGAGCTGCTGGCCGAGGCCCGGCGAGCCTTC
CGGGAGGAGTTCGGGGCCGAGCCCGAGCTGGCCGTGTCAGCGCCGGGCCGCGTCAACCTC
ATCGGGGAACACACGGACTACAACCAGGGCCTGGTGCTGCCTATGGCTCTGGAGCTCATG
ACGGTGCTGGTGGGCAGCCCCCGCAAGGATGGGCTGGTGTCTCTCCTCACCACCTCTGAG
GGTGCCGATGAGCCCCAGCGGCTGCAGTTTCCACTGCCCACAGCCCAGCGCTCGCTGGAG
CCTGGGACTCCTCGGTGGGCCAACTATGTCAAGGGAGTGATTCAGTACTACCCAGCTGCC
CCCCTCCCTGGCTTCAGTGCAGTGGTGGTCAGCTCAGTGCCCCTGGGGGGTGGCCTGTCC
AGCTCAGCATCCTTGGAAGTGGCCACGTACACCTTCCTCCAGCAGCTCTGTCCAGACTCG
GGCACAATAGCTGCCCGCGCCCAGGTGTGTCAGCAGGCCGAGCACAGCTTCGCAGGGATG
CCCTGTGGCATCATGGACCAGTTCATCTCACTTATGGGACAGAAAGGCCACGCGCTGCTC
ATTGACTGCAGGTCCTTGGAGACCAGCCTGGTGCCACTCTCGGACCCCAAGCTGGCCGTG
CTCATCACCAACTCTAATGTCCGCCACTCCCTGGCCTCCAGCGAGTACCCTGTGCGGCGG
CGCCAATGTGAAGAAGTGGCCCGGGCGCTGGGCAAGGAAAGCCTCCGGGAGGTACAACTG
GAAGAGCTAGAGGCTGCCAGGGACCTGGTGAGCAAAGAGGGCTTCCGGCGGGCCCGGCAC
GTGGTGGGGGAGATTCGGCGCACGGCCCAGGCAGCGGCCGCCCTGAGACGTGGCGACTAC
AGAGCCTTTGGCCGCCTCATGGTGGAGAGCCACCGCTCACTCAGAGACGACTATGAGGTG
AGCTGCCCAGAGCTGGACCAGCTGGTGGAGGCTGCGCTTGCTGTGCCTGGGGTTTATGGC
AGCCGCATGACGGGCGGTGGCTTCGGTGGCTGCACGGTGACACTGCTGGAGGCCTCCGCT
GCTCCCCACGCCATGCGGCACATCCAGGAGCACTACGGCGGGACTGCCACCTTCTACCTC
TCTCAAGCAGCCGATGGAGCCAAGGTGCTGTGCTTGTGA

• GHMP_kinases_C (PF08544 )
• GHMP_kinases_N (PF00288 )
• GalKase_gal_bdg (PF10509 )

>Galactokinase
MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELM
TVLVGSPRKDGLVSLLTTSEGADEPQRLQFPLPTAQRSLEPGTPRWANYVKGVIQYYPAA
PLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDSGTIAARAQVCQQAEHSFAGM
PCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRR
RQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRTAQAAAALRRGDY
RAFGRLMVESHRSLRDDYEVSCPELDQLVEAALAVPGVYGSRMTGGGFGGCTVTLLEASA
APHAMRHIQEHYGGTATFYLSQAADGAKVLCL

• 1WUU
• 1YH7

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3. Ai Y, Basu M, Bergsma DJ, Stambolian D: Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2. Biochem Biophys Res Commun. 1995 Jul 17;212(2):687-91. [PubMed:7542884 ]
4. Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma DJ: Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. Nat Genet. 1995 Jul;10(3):307-12. [PubMed:7670469 ]
5. Bergsma DJ, Ai Y, Skach WR, Nesburn K, Anoia E, Van Horn S, Stambolian D: Fine structure of the human galactokinase GALK1 gene. Genome Res. 1996 Oct;6(10):980-5. [PubMed:8908517 ]
6. Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, 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. 1999 Nov;65(5):1299-307. [PubMed:10521295 ]
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8. Okano Y, Asada M, Fujimoto A, Ohtake A, Murayama K, Hsiao KJ, Choeh K, Yang Y, Cao Q, Reichardt JK, 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. 2001 Apr;68(4):1036-42. Epub 2001 Feb 23. [PubMed:11231902 ]
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