Sequence of GALT_HUMAN
EC Number:2.7.7.12
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
UDP-alpha-D-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDP-alpha-D-galactose
Other sequences found for EC No. 2.7.7.12
General information:
Sequence
0 MSRSGTDPQQ RQQASEADAA AATFRANDHQ HIRYNPLQDE WVLVSAHRMK RPWQGQVEPQ
60 LLKTVPRHDP LNPLCPGAIR ANGEVNPQYD STFLFDNDFP ALQPDAPSPG PSDHPLFQAK
120 SARGVCKVMC FHPWSDVTLP LMSVPEIRAV VDAWASVTEE LGAQYPWVQI FENKGAMMGC
180 SNPHPHCQVW ASSFLPDIAQ REERSQQAYK SQHGEPLLME YSRQELLRKE RLVLTSEHWL
240 VLVPFWATWP YQTLLLPRRH VRRLPELTPA ERDDLASIMK KLLTKYDNLF ETSFPYSMGW
300 HGAPTGSEAG ANWNHWQLHA HYYPPLLRSA TVRKFMVGYE MLAQAQRDLT PEQAAERLRA
360 LPEVHYHLGQ KDRETATIA
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Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
1189819
Reichardt J.K.V.,Berg P.
Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.
Mol. Biol. Med.
5
107-122
1988
1189820
Flach J.E.,Reichardt J.K.V.,Elsas L.J. II
Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.
Mol. Biol. Med.
7
365-369
1990
1189821
Leslie N.D.,Immerman E.B.,Flach J.E.,Florez M.,Fridovich-Keil J.L.,Elsas L.J.
The human galactose-1-phosphate uridyltransferase gene.
Genomics
14
474-480
1992
1189823
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
1189824
Humphray S.J.,Oliver K.,Hunt A.R.,Plumb R.W.,Loveland J.E.,Howe K.L.,Andrews T.D.,Searle S.,Hunt S.E.,Scott C.E.,Jones M.C.,Ainscough R.,Almeida J.P.,Ambrose K.D.,Ashwell R.I.S.,Babbage A.K.,Babbage S.,Bagguley C.L.,Bailey J.,Banerjee R.,Barker D.J.,Barlow K.F.,Bates K.,Beasley H.,Beasley O.,Bird C.P.,Bray-Allen S.,Brown A.J.,Brown J.Y.,Burford D.,Burrill W.,Burton J.,Carder C.,Carter N.P.,Chapman J.C.,Chen Y.,Clarke G.,Clark S.Y.,Clee C.M.,Clegg S.,Collier R.E.,Corby N.,Crosier M.,Cummings A.T.,Davies J.,Dhami P.,Dunn M.,Dutta I.,Dyer L.W.,Earthrowl M.E.,Faulkner L.,Fleming C.J.,Frankish A.,Frankland J.A.,French L.,Fricker D.G.,Garner P.,Garnett J.,Ghori J.,Gilbert J.G.R.,Glison C.,Grafham D.V.,Gribble S.,Griffiths C.,Griffiths-Jones S.,Grocock R.,Guy J.,Hall R.E.,Hammond S.,Harley J.L.,Harrison E.S.I.,Hart E.A.,Heath P.D.,Henderson C.D.,Hopkins B.L.,Howard P.J.,Howden P.J.,Huckle E.,Johnson C.,Johnson D.,Joy A.A.,Kay M.,Keenan S.,Kershaw J.K.,Kimberley A.M.,King A.,Knights A.,Laird G.K.,Langford C.,Lawlor S.,Leongamornlert D.A.,Leversha M.,Lloyd C.,Lloyd D.M.,Lovell J.,Martin S.,Mashreghi-Mohammadi M.,Matthews L.,McLaren S.,McLay K.E.,McMurray A.,Milne S.,Nickerson T.,Nisbett J.,Nordsiek G.,Pearce A.V.,Peck A.I.,Porter K.M.,Pandian R.,Pelan S.,Phillimore B.,Povey S.,Ramsey Y.,Rand V.,Scharfe M.,Sehra H.K.,Shownkeen R.,Sims S.K.,Skuce C.D.,Smith M.,Steward C.A.,Swarbreck D.,Sycamore N.,Tester J.,Thorpe A.,Tracey A.,Tromans A.,Thomas D.W.,Wall M.,Wallis J.M.,West A.P.,Whitehead S.L.,Willey D.L.,Williams S.A.,Wilming L.,Wray P.W.,Young L.,Ashurst J.L.,Coulson A.,Blocker H.,Durbin R.M.,Sulston J.E.,Hubbard T.,Jackson M.J.,Bentley D.R.,Beck S.,Rogers J.,Dunham I.
DNA sequence and analysis of human chromosome 9.
Nature
429
369-374
2004
1189826
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
1189828
Tyfield L.,Reichardt J.,Fridovich-Keil J.,Croke D.T.,Elsas L.J. II,Strobl W.,Kozak L.,Coskun T.,Novelli G.,Okano Y.,Zekanowski C.,Shin Y.,Boleda M.D.
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase 'GALT' gene.
Hum. Mutat.
13
417-430
1999
1189829
Tang M.,Facchiano A.,Rachamadugu R.,Calderon F.,Mao R.,Milanesi L.,Marabotti A.,Lai K.
Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.
Hum. Mutat.
33
1107-1115
2012
1189830
McCorvie T.J.,Kopec J.,Pey A.L.,Fitzpatrick F.,Patel D.,Chalk R.,Shrestha L.,Yue W.W.
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
Hum. Mol. Genet.
25
2234-2244
2016
1189831
Reichardt J.K.V.,Packman S.,Woo S.L.C.
Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.
Am. J. Hum. Genet.
49
860-867
1991
1189832
Reichardt J.K.V.,Woo S.L.C.
Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
Proc. Natl. Acad. Sci. U.S.A.
88
2633-2637
1991
1189834
Reichardt J.K.V.,Levy H.L.,Woo S.L.C.
Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.
Biochemistry
31
5430-5433
1992
1189835
Reichardt J.K.V.,Belmont J.W.,Levy H.L.,Woo S.L.C.
Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.
Genomics
12
596-600
1992
1189836
Reichardt J.K.V.,Novelli G.,Dallapiccola B.
Molecular characterization of the H319Q galactosemia mutation.
Hum. Mol. Genet.
2
325-326
1993
1189837
Lin H.-C.,Kirby L.T.,Ng W.G.,Reichardt J.K.V.
On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
Hum. Genet.
93
167-169
1994
1189838
Elsas L.J.,Langley S.D.,Steele E.,Evinger J.,Frodovich-Keil J.L.,Brown A.,Singh R.,Fernhoff P.,Hjelm L.N.,Dembure P.P.
Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
Am. J. Hum. Genet.
56
630-639
1995
1189839
Fridovich-Keil J.L.,Langley S.D.,Mazur L.A.,Lennon J.C.,Dembure P.P.,Elsas L.J. II
Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.
Am. J. Hum. Genet.
56
640-646
1995
1189840
Sommer M.,Gathof B.S.,Podskarbi T.,Giugliani R.,Kleinlein B.,Shin Y.S.
Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.
J. Inherit. Metab. Dis.
18
567-576
1995
1189841
Ashino J.,Okano Y.,Suyama I.,Yamazaki T.,Yoshino M.,Furuyama J.,Lin H.-C.,Reichardt J.K.V.,Isshiki G.
Molecular characterization of galactosemia (type 1) mutations in Japanese.
Hum. Mutat.
6
36-43
1995
1189842
Shin Y.S.,Gathof B.S.,Podskarbi T.,Sommer M.,Giugliani R.,Gresser U.
Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.
Eur. J. Pediatr.
155
393-397
1996
1189843
Maceratesi P.,Sangiuolo F.,Novelli G.,Ninfali P.,Magnani M.,Reichardt J.K.V.,Dallapiccola B.
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.
Hum. Mutat.
8
369-372
1996
1189844
Ninfali P.,Bresolin N.,Dallapiccola B.,Novelli G.
Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.
J. Neurol.
243
102-103
1996
1189845
Greber-Platzer S.,Guldberg P.,Scheibenreiter S.,Item C.,Schuller E.,Patel N.,Strobl W.
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
Hum. Mutat.
10
49-57
1997
1189846
Seyrantepe V.,Ozguc M.,Coskun T.,Ozalp I.,Reichardt J.K.V.
Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y.
Hum. Mutat.
13
339-339
1999
1189847
Yang Y.P.,Corley N.,Garcia-Heras J.
Molecular analysis in newborns from Texas affected with galactosemia.
Hum. Mutat.
19
82-83
2002
1189848
Item C.,Hagerty B.P.,Muhl A.,Greber-Platzer S.,Stockler-Ipsiroglu S.,Strobl W.
Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.
Pediatr. Res.
51
511-516
2002
1189849
Bosch A.M.,Ijlst L.,Oostheim W.,Mulders J.,Bakker H.D.,Wijburg F.A.,Wanders R.J.,Waterham H.R.
Identification of novel mutations in classical galactosemia.
Hum. Mutat.
25
502-502
2005
1189850
Gort L.,Boleda M.D.,Tyfield L.,Vilarinho L.,Rivera I.,Cardoso M.L.,Santos-Leite M.,Giros M.,Briones P.
Mutational spectrum of classical galactosaemia in Spain and Portugal.
J. Inherit. Metab. Dis.
29
739-742
2006
1189851
Calderon F.R.,Nelson L.,Dobrowolski P.,Sinitsyna I.,Phansalkar A.,Longo N.,Pasquali M.,Mao R.
Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.
J. Inherit. Metab. Dis.
30
818-818
2007
1189852
Velazquez-Aragon J.,Alcantara-Ortigoza M.A.,Vela-Amieva M.,Monroy S.,Martinez-Cruz V.,Todd-Quinones C.,Gonzalez-del Angel A.
Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.
J. Inherit. Metab. Dis.
31
0-0
2008
1189853
Singh R.,Thapa B.R.,Kaur G.,Prasad R.
Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: Identification of 10 novel mutations and their structural and functional implications.
Clin. Chim. Acta
414
191-196
2012
1189854
Coelho A.I.,Trabuco M.,Ramos R.,Silva M.J.,Tavares de Almeida I.,Leandro P.,Rivera I.,Vicente J.B.
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
Mol. Genet. Genomic Med.
2
484-496
2014
1189855
Viggiano E.,Marabotti A.,Burlina A.P.,Cazzorla C.,D'Apice M.R.,Giordano L.,Fasan I.,Novelli G.,Facchiano A.,Burlina A.B.
Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: Structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.
Gene
559
112-118
2015
