GALT_HUMAN
ID GALT_HUMAN Reviewed; 379 AA.
AC P07902; B4E097; E7ET32; Q14355; Q14356; Q14357; Q14358; Q14359; Q14360;
AC Q14361; Q14363; Q14364; Q14365; Q14369; Q14370; Q14371; Q14372; Q14373;
AC Q14374; Q14375; Q14377; Q14378; Q14380; Q14381; Q14382; Q14383; Q14384;
AC Q14385; Q14386; Q14387; Q14389; Q16766; Q53XK1; Q5VZ81; Q96BY1;
DT 01-AUG-1988, integrated into UniProtKB/Swiss-Prot.
DT 15-JUL-1998, sequence version 3.
DT 03-AUG-2022, entry version 234.
DE RecName: Full=Galactose-1-phosphate uridylyltransferase;
DE Short=Gal-1-P uridylyltransferase;
DE EC=2.7.7.12 {ECO:0000269|PubMed:22461411, ECO:0000269|PubMed:27005423};
DE AltName: Full=UDP-glucose--hexose-1-phosphate uridylyltransferase;
GN Name=GALT;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Fibroblast;
RX PubMed=2840550;
RA Reichardt J.K.V., Berg P.;
RT "Cloning and characterization of a cDNA encoding human galactose-1-
RT phosphate uridyl transferase.";
RL Mol. Biol. Med. 5:107-122(1988).
RN [2]
RP SEQUENCE REVISION.
RX PubMed=2233247;
RA Flach J.E., Reichardt J.K.V., Elsas L.J. II;
RT "Sequence of a cDNA encoding human galactose-1-phosphate uridyl
RT transferase.";
RL Mol. Biol. Med. 7:365-369(1990).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GALAC1 ARG-188, AND INVOLVEMENT
RP IN GALAC1.
RX PubMed=1427861; DOI=10.1016/s0888-7543(05)80244-7;
RA Leslie N.D., Immerman E.B., Flach J.E., Florez M., Fridovich-Keil J.L.,
RA Elsas L.J.;
RT "The human galactose-1-phosphate uridyltransferase gene.";
RL Genomics 14:474-480(1992).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ASP-314.
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Thymus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ASP-314.
RC TISSUE=Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [9]
RP REVIEW ON GALAC1 MUTATIONS.
RX PubMed=1301925; DOI=10.1002/humu.1380010303;
RA Reichardt J.K.V.;
RT "Genetic basis of galactosemia.";
RL Hum. Mutat. 1:190-196(1992).
RN [10]
RP REVIEW ON GALAC1 MUTATIONS.
RX PubMed=10408771;
RX DOI=10.1002/(sici)1098-1004(1999)13:6<417::aid-humu1>3.0.co;2-0;
RA Tyfield L., Reichardt J., Fridovich-Keil J., Croke D.T., Elsas L.J. II,
RA Strobl W., Kozak L., Coskun T., Novelli G., Okano Y., Zekanowski C.,
RA Shin Y., Boleda M.D.;
RT "Classical galactosemia and mutations at the galactose-1-phosphate uridyl
RT transferase 'GALT' gene.";
RL Hum. Mutat. 13:417-430(1999).
RN [11]
RP FUNCTION, PATHWAY, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES,
RP VARIANTS GALAC1 ASN-34; GLN-132; LEU-168; THR-170; PRO-227; GLN-259;
RP VAL-291 AND PRO-327, AND CHARACTERIZATION OF VARIANTS GALAC1 ASN-34;
RP GLN-132; LEU-135; LEU-168; THR-170; HIS-185; ARG-188; CYS-201; LYS-220;
RP SER-223; PRO-227; GLN-259; ASN-278; PHE-289; VAL-291 AND PRO-327.
RX PubMed=22461411; DOI=10.1002/humu.22093;
RA Tang M., Facchiano A., Rachamadugu R., Calderon F., Mao R., Milanesi L.,
RA Marabotti A., Lai K.;
RT "Correlation assessment among clinical phenotypes, expression analysis and
RT molecular modeling of 14 novel variations in the human galactose-1-
RT phosphate uridylyltransferase gene.";
RL Hum. Mutat. 33:1107-1115(2012).
RN [12] {ECO:0007744|PDB:5IN3}
RP X-RAY CRYSTALLOGRAPHY (1.73 ANGSTROMS) IN COMPLEX WITH GLUCOSE-1-PHOSPHATE;
RP UMP AND ZINC IONS, FUNCTION, PATHWAY, CATALYTIC ACTIVITY, COFACTOR,
RP SUBUNIT, ACTIVE SITE, AND CHARACTERIZATION OF VARIANT GALAC1 ARG-188 AND
RP ASN-285.
RX PubMed=27005423; DOI=10.1093/hmg/ddw091;
RA McCorvie T.J., Kopec J., Pey A.L., Fitzpatrick F., Patel D., Chalk R.,
RA Shrestha L., Yue W.W.;
RT "Molecular basis of classic galactosemia from the structure of human
RT galactose 1-phosphate uridylyltransferase.";
RL Hum. Mol. Genet. 25:2234-2244(2016).
RN [13]
RP VARIANTS GALAC1 ARG-188 AND TRP-333.
RX PubMed=1897530;
RA Reichardt J.K.V., Packman S., Woo S.L.C.;
RT "Molecular characterization of two galactosemia mutations: correlation of
RT mutations with highly conserved domains in galactose-1-phosphate uridyl
RT transferase.";
RL Am. J. Hum. Genet. 49:860-867(1991).
RN [14]
RP VARIANTS GALAC1 MET-44 AND LYS-142, AND VARIANTS MET-62 AND ASP-314.
RX PubMed=2011574; DOI=10.1073/pnas.88.7.2633;
RA Reichardt J.K.V., Woo S.L.C.;
RT "Molecular basis of galactosemia: mutations and polymorphisms in the gene
RT encoding human galactose-1-phosphate uridylyltransferase.";
RL Proc. Natl. Acad. Sci. U.S.A. 88:2633-2637(1991).
RN [15]
RP ERRATUM OF PUBMED:2011574.
RA Reichardt J.K.V., Woo S.L.C.;
RL Proc. Natl. Acad. Sci. U.S.A. 88:7457-7457(1991).
RN [16]
RP VARIANTS GALAC1 PRO-74 AND SER-171, AND VARIANT LEU-135.
RX PubMed=1610789; DOI=10.1021/bi00139a002;
RA Reichardt J.K.V., Levy H.L., Woo S.L.C.;
RT "Molecular characterization of two galactosemia mutations and one
RT polymorphism: implications for structure-function analysis of human
RT galactose-1-phosphate uridyltransferase.";
RL Biochemistry 31:5430-5433(1992).
RN [17]
RP VARIANTS GALAC1 TRP-148 AND PRO-195.
RX PubMed=1373122; DOI=10.1016/0888-7543(92)90453-y;
RA Reichardt J.K.V., Belmont J.W., Levy H.L., Woo S.L.C.;
RT "Characterization of two missense mutations in human galactose-1-phosphate
RT uridyltransferase: different molecular mechanisms for galactosemia.";
RL Genomics 12:596-600(1992).
RN [18]
RP VARIANT GALAC1 GLN-319.
RX PubMed=8499924; DOI=10.1093/hmg/2.3.325;
RA Reichardt J.K.V., Novelli G., Dallapiccola B.;
RT "Molecular characterization of the H319Q galactosemia mutation.";
RL Hum. Mol. Genet. 2:325-326(1993).
RN [19]
RP VARIANT GALAC1 ASP-314.
RX PubMed=8112740; DOI=10.1007/bf00210604;
RA Lin H.-C., Kirby L.T., Ng W.G., Reichardt J.K.V.;
RT "On the molecular nature of the Duarte variant of galactose-1-phosphate
RT uridyl transferase (GALT).";
RL Hum. Genet. 93:167-169(1994).
RN [20]
RP VARIANTS GALAC1.
RX PubMed=7887416;
RA Elsas L.J., Langley S.D., Steele E., Evinger J., Frodovich-Keil J.L.,
RA Brown A., Singh R., Fernhoff P., Hjelm L.N., Dembure P.P.;
RT "Galactosemia: a strategy to identify new biochemical phenotypes and
RT molecular genotypes.";
RL Am. J. Hum. Genet. 56:630-639(1995).
RN [21]
RP VARIANTS GALAC1 LEU-135; ALA-151 AND ARG-188.
RX PubMed=7887417;
RA Fridovich-Keil J.L., Langley S.D., Mazur L.A., Lennon J.C., Dembure P.P.,
RA Elsas L.J. II;
RT "Identification and functional analysis of three distinct mutations in the
RT human galactose-1-phosphate uridyltransferase gene associated with
RT galactosemia in a single family.";
RL Am. J. Hum. Genet. 56:640-646(1995).
RN [22]
RP VARIANTS GALAC1 CYS-67 AND VAL-330.
RX PubMed=8598637; DOI=10.1007/bf02436001;
RA Sommer M., Gathof B.S., Podskarbi T., Giugliani R., Kleinlein B.,
RA Shin Y.S.;
RT "Mutations in the galactose-1-phosphate uridyltransferase gene of two
RT families with mild galactosaemia variants.";
RL J. Inherit. Metab. Dis. 18:567-576(1995).
RN [23]
RP VARIANTS GALAC1 HIS-231 AND TRP-333, AND VARIANT ASP-314.
RX PubMed=7550229; DOI=10.1002/humu.1380060108;
RA Ashino J., Okano Y., Suyama I., Yamazaki T., Yoshino M., Furuyama J.,
RA Lin H.-C., Reichardt J.K.V., Isshiki G.;
RT "Molecular characterization of galactosemia (type 1) mutations in
RT Japanese.";
RL Hum. Mutat. 6:36-43(1995).
RN [24]
RP VARIANTS GALAC1 CYS-55 AND PHE-329.
RX PubMed=8741038; DOI=10.1007/bf01955270;
RA Shin Y.S., Gathof B.S., Podskarbi T., Sommer M., Giugliani R., Gresser U.;
RT "Three missense mutations in the galactose-1-phosphate uridyltransferase
RT gene of three families with mild galactosaemia.";
RL Eur. J. Pediatr. 155:393-397(1996).
RN [25]
RP VARIANTS GALAC1 LEU-150; THR-183; ARG-188 AND GLN-319.
RX PubMed=8956044;
RX DOI=10.1002/(sici)1098-1004(1996)8:4<369::aid-humu12>3.0.co;2-0;
RA Maceratesi P., Sangiuolo F., Novelli G., Ninfali P., Magnani M.,
RA Reichardt J.K.V., Dallapiccola B.;
RT "Three new mutations (P183T, V150L, 528insG) and eleven sequence
RT polymorphisms in Italian patients with galactose-1-phosphate
RT uridyltransferase (GALT) deficiency.";
RL Hum. Mutat. 8:369-372(1996).
RN [26]
RP VARIANT GALAC1 THR-183.
RX PubMed=8869397; DOI=10.1007/bf00878541;
RA Ninfali P., Bresolin N., Dallapiccola B., Novelli G.;
RT "Molecular basis of galactose-1-phosphate uridyltransferase deficiency
RT involving skeletal muscle.";
RL J. Neurol. 243:102-103(1996).
RN [27]
RP VARIANTS GALAC1 TYR-28; ASN-32; PRO-38; GLY-123; LEU-143 AND LEU-325.
RX PubMed=9222760;
RX DOI=10.1002/(sici)1098-1004(1997)10:1<49::aid-humu7>3.0.co;2-h;
RA Greber-Platzer S., Guldberg P., Scheibenreiter S., Item C., Schuller E.,
RA Patel N., Strobl W.;
RT "Molecular heterogeneity of classical and Duarte galactosemia: mutation
RT analysis by denaturing gradient gel electrophoresis.";
RL Hum. Mutat. 10:49-57(1997).
RN [28]
RP VARIANTS GALAC1 LYS-142; ASN-285; TYR-294 AND THR-320.
RX PubMed=10220154;
RX DOI=10.1002/(sici)1098-1004(1999)13:4<339::aid-humu18>3.0.co;2-s;
RA Seyrantepe V., Ozguc M., Coskun T., Ozalp I., Reichardt J.K.V.;
RT "Identification of mutations in the galactose-1-phosphate uridyltransferase
RT (GALT) gene in 16 Turkish patients with galactosemia, including a novel
RT mutation of F294Y.";
RL Hum. Mutat. 13:339-339(1999).
RN [29]
RP VARIANTS GALAC1 ALA-23; LEU-135; MET-138; GLN-184; ARG-188; PRO-195;
RP SER-251; ASN-285; LYS-344 AND ASP-345, AND VARIANT ASP-314.
RX PubMed=11754113; DOI=10.1002/humu.9005;
RA Yang Y.P., Corley N., Garcia-Heras J.;
RT "Molecular analysis in newborns from Texas affected with galactosemia.";
RL Hum. Mutat. 19:82-83(2002).
RN [30]
RP VARIANTS GALAC1 HIS-9; THR-129 AND ILE-342.
RX PubMed=11919338; DOI=10.1203/00006450-200204000-00018;
RA Item C., Hagerty B.P., Muhl A., Greber-Platzer S., Stockler-Ipsiroglu S.,
RA Strobl W.;
RT "Mutations at the galactose-1-p-uridyltransferase gene in infants with a
RT positive galactosemia newborn screening test.";
RL Pediatr. Res. 51:511-516(2002).
RN [31]
RP VARIANTS GALAC1 GLN-51; TRP-135; ASN-229 AND HIS-252.
RX PubMed=15841485; DOI=10.1002/humu.9330;
RA Bosch A.M., Ijlst L., Oostheim W., Mulders J., Bakker H.D., Wijburg F.A.,
RA Wanders R.J., Waterham H.R.;
RT "Identification of novel mutations in classical galactosemia.";
RL Hum. Mutat. 25:502-502(2005).
RN [32]
RP VARIANTS GALAC1 HIS-28; HIS-33; ALA-181; SER-185; GLY-192 AND ALA-265.
RX PubMed=17041746; DOI=10.1007/s10545-006-0356-2;
RA Gort L., Boleda M.D., Tyfield L., Vilarinho L., Rivera I., Cardoso M.L.,
RA Santos-Leite M., Giros M., Briones P.;
RT "Mutational spectrum of classical galactosaemia in Spain and Portugal.";
RL J. Inherit. Metab. Dis. 29:739-742(2006).
RN [33]
RP VARIANTS GALAC1 HIS-185; CYS-201; LYS-220; SER-223; ASN-278 AND PHE-289.
RX PubMed=17876724; DOI=10.1007/s10545-007-0461-x;
RA Calderon F.R., Nelson L., Dobrowolski P., Sinitsyna I., Phansalkar A.,
RA Longo N., Pasquali M., Mao R.;
RT "Combination of enzyme analysis, allele-specific PCR and sequencing to
RT detect mutations in the GALT gene.";
RL J. Inherit. Metab. Dis. 30:818-818(2007).
RN [34]
RP VARIANTS GALAC1 ARG-112 AND ARG-188, AND VARIANT ASP-314.
RX PubMed=18956253; DOI=10.1007/s10545-008-0905-y;
RA Velazquez-Aragon J., Alcantara-Ortigoza M.A., Vela-Amieva M., Monroy S.,
RA Martinez-Cruz V., Todd-Quinones C., Gonzalez-del Angel A.;
RT "Low allelic heterogeneity in a sample of Mexican patients with classical
RT galactosaemia.";
RL J. Inherit. Metab. Dis. 31:S333-S337(2008).
RN [35]
RP VARIANTS GALAC1 HIS-89; ARG-103; ALA-166; SER-171; PHE-181; LEU-185;
RP ARG-188; ARG-285; GLN-319 AND LEU-333, AND VARIANT ASP-314.
RX PubMed=23022339; DOI=10.1016/j.cca.2012.09.017;
RA Singh R., Thapa B.R., Kaur G., Prasad R.;
RT "Biochemical and molecular characterization of GALT gene from Indian
RT galactosemia patients: Identification of 10 novel mutations and their
RT structural and functional implications.";
RL Clin. Chim. Acta 414:191-196(2012).
RN [36]
RP VARIANTS GALAC1 LEU-135; GLN-148; ASP-175; SER-185; ARG-188; CYS-231;
RP HIS-231; ASN-285 AND ASP-314, AND CHARACTERIZATION OF VARIANTS GALAC1
RP LEU-135; ASP-175 AND ARG-188.
RX PubMed=25614870; DOI=10.1002/mgg3.94;
RA Coelho A.I., Trabuco M., Ramos R., Silva M.J., Tavares de Almeida I.,
RA Leandro P., Rivera I., Vicente J.B.;
RT "Functional and structural impact of the most prevalent missense mutations
RT in classic galactosemia.";
RL Mol. Genet. Genomic Med. 2:484-496(2014).
RN [37]
RP VARIANTS GALAC1 PRO-33; ASN-34; VAL-83; THR-142; ARG-188; SER-244; ARG-267;
RP VAL-267; ASP-271; ASN-285; ASP-314 AND TRP-333.
RX PubMed=25592817; DOI=10.1016/j.gene.2015.01.013;
RA Viggiano E., Marabotti A., Burlina A.P., Cazzorla C., D'Apice M.R.,
RA Giordano L., Fasan I., Novelli G., Facchiano A., Burlina A.B.;
RT "Clinical and molecular spectra in galactosemic patients from neonatal
RT screening in northeastern Italy: Structural and functional characterization
RT of new variations in the galactose-1-phosphate uridyltransferase (GALT)
RT gene.";
RL Gene 559:112-118(2015).
CC -!- FUNCTION: Plays an important role in galactose metabolism.
CC {ECO:0000269|PubMed:22461411, ECO:0000269|PubMed:27005423}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=alpha-D-galactose 1-phosphate + UDP-alpha-D-glucose = alpha-D-
CC glucose 1-phosphate + UDP-alpha-D-galactose; Xref=Rhea:RHEA:13989,
CC ChEBI:CHEBI:58336, ChEBI:CHEBI:58601, ChEBI:CHEBI:58885,
CC ChEBI:CHEBI:66914; EC=2.7.7.12;
CC Evidence={ECO:0000269|PubMed:22461411, ECO:0000269|PubMed:27005423};
CC -!- COFACTOR:
CC Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
CC Evidence={ECO:0000269|PubMed:27005423};
CC Note=Binds 2 zinc ions per subunit. {ECO:0000305|PubMed:27005423};
CC -!- BIOPHYSICOCHEMICAL PROPERTIES:
CC Kinetic parameters:
CC KM=1.25 mM for alpha-D-galactose 1-phosphate (at pH 8.7)
CC {ECO:0000269|PubMed:22461411};
CC KM=0.43 mM for UDP-glucose (at pH 8.7) {ECO:0000269|PubMed:22461411};
CC Vmax=48 umol/min/mg enzyme {ECO:0000269|PubMed:22461411};
CC -!- PATHWAY: Carbohydrate metabolism; galactose metabolism.
CC {ECO:0000269|PubMed:22461411, ECO:0000269|PubMed:27005423}.
CC -!- SUBUNIT: Homodimer. {ECO:0000269|PubMed:27005423}.
CC -!- INTERACTION:
CC P07902; Q9HAV7: GRPEL1; NbExp=3; IntAct=EBI-750827, EBI-1043499;
CC P07902; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-750827, EBI-11962084;
CC P07902; P15559: NQO1; NbExp=3; IntAct=EBI-750827, EBI-3989435;
CC P07902; Q07912: TNK2; NbExp=3; IntAct=EBI-750827, EBI-603457;
CC P07902; Q07912-2: TNK2; NbExp=3; IntAct=EBI-750827, EBI-11994780;
CC P07902; Q15645: TRIP13; NbExp=4; IntAct=EBI-750827, EBI-358993;
CC P07902; Q8WUN7: UBTD2; NbExp=4; IntAct=EBI-750827, EBI-12867288;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P07902-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P07902-2; Sequence=VSP_045604, VSP_045605;
CC -!- DISEASE: Galactosemia 1 (GALAC1) [MIM:230400]: A form of galactosemia,
CC an inborn error of galactose metabolism typically manifesting in the
CC neonatal period, after ingestion of galactose, with jaundice,
CC hepatosplenomegaly, hepatocellular insufficiency, food intolerance,
CC hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and
CC cataract. GALAC1 inheritance is autosomal recessive.
CC {ECO:0000269|PubMed:10220154, ECO:0000269|PubMed:11754113,
CC ECO:0000269|PubMed:11919338, ECO:0000269|PubMed:1373122,
CC ECO:0000269|PubMed:1427861, ECO:0000269|PubMed:15841485,
CC ECO:0000269|PubMed:1610789, ECO:0000269|PubMed:17041746,
CC ECO:0000269|PubMed:17876724, ECO:0000269|PubMed:18956253,
CC ECO:0000269|PubMed:1897530, ECO:0000269|PubMed:2011574,
CC ECO:0000269|PubMed:22461411, ECO:0000269|PubMed:23022339,
CC ECO:0000269|PubMed:25592817, ECO:0000269|PubMed:25614870,
CC ECO:0000269|PubMed:27005423, ECO:0000269|PubMed:7550229,
CC ECO:0000269|PubMed:7887416, ECO:0000269|PubMed:7887417,
CC ECO:0000269|PubMed:8112740, ECO:0000269|PubMed:8499924,
CC ECO:0000269|PubMed:8598637, ECO:0000269|PubMed:8741038,
CC ECO:0000269|PubMed:8869397, ECO:0000269|PubMed:8956044,
CC ECO:0000269|PubMed:9222760}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the galactose-1-phosphate uridylyltransferase
CC type 1 family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Galactosemia Proteins Database;
CC URL="http://www.protein-variants.eu/galactosemia/";
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DR EMBL; M60091; AAC83409.1; -; mRNA.
DR EMBL; M96264; AAA74450.1; -; Genomic_DNA.
DR EMBL; L46359; AAB59606.1; -; Genomic_DNA.
DR EMBL; L46360; AAB59604.1; -; Genomic_DNA.
DR EMBL; L46361; AAB59605.1; -; Genomic_DNA.
DR EMBL; L46362; AAB59603.1; -; Genomic_DNA.
DR EMBL; L46363; AAB59607.1; -; Genomic_DNA.
DR EMBL; L46364; AAB59584.1; -; Genomic_DNA.
DR EMBL; L46365; AAB59585.1; -; Genomic_DNA.
DR EMBL; L46691; AAB59586.1; -; Genomic_DNA.
DR EMBL; L46692; AAB59588.1; -; Genomic_DNA.
DR EMBL; L46693; AAB59587.1; -; Genomic_DNA.
DR EMBL; L46694; AAB59589.1; -; Genomic_DNA.
DR EMBL; L46698; AAB59590.1; -; Genomic_DNA.
DR EMBL; L46699; AAB59608.1; -; Genomic_DNA.
DR EMBL; L46703; AAB59591.1; -; Genomic_DNA.
DR EMBL; L46704; AAB59578.1; -; Genomic_DNA.
DR EMBL; L46705; AAB59592.1; -; Genomic_DNA.
DR EMBL; L46706; AAB59593.1; -; Genomic_DNA.
DR EMBL; L46707; AAA81544.1; -; Genomic_DNA.
DR EMBL; L46708; AAA81545.1; -; Genomic_DNA.
DR EMBL; L46709; AAB59594.1; -; Genomic_DNA.
DR EMBL; L46710; AAB59595.1; -; Genomic_DNA.
DR EMBL; L46711; AAB59596.1; -; Genomic_DNA.
DR EMBL; L46712; AAB59597.1; -; Genomic_DNA.
DR EMBL; L46713; AAB59598.1; -; Genomic_DNA.
DR EMBL; L46714; AAB59599.1; -; Genomic_DNA.
DR EMBL; L46715; AAB59601.1; -; Genomic_DNA.
DR EMBL; L46716; AAB59600.1; -; Genomic_DNA.
DR EMBL; L46717; AAA81546.1; -; Genomic_DNA.
DR EMBL; BT009852; AAP88854.1; -; mRNA.
DR EMBL; AK303279; BAG64359.1; -; mRNA.
DR EMBL; AL162231; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL450283; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471071; EAW58428.1; -; Genomic_DNA.
DR EMBL; BC015045; AAH15045.1; -; mRNA.
DR CCDS; CCDS59122.1; -. [P07902-2]
DR CCDS; CCDS6565.1; -. [P07902-1]
DR PIR; A44473; A44473.
DR PIR; I57459; I57459.
DR PIR; JL0053; JL0053.
DR RefSeq; NP_000146.2; NM_000155.3. [P07902-1]
DR RefSeq; NP_001245261.1; NM_001258332.1. [P07902-2]
DR PDB; 5IN3; X-ray; 1.73 A; A/B=1-379.
DR PDB; 6GQD; X-ray; 1.52 A; A=1-379.
DR PDBsum; 5IN3; -.
DR PDBsum; 6GQD; -.
DR AlphaFoldDB; P07902; -.
DR SMR; P07902; -.
DR BioGRID; 108864; 20.
DR IntAct; P07902; 9.
DR STRING; 9606.ENSP00000368119; -.
DR iPTMnet; P07902; -.
DR PhosphoSitePlus; P07902; -.
DR BioMuta; GALT; -.
DR DMDM; 3183522; -.
DR EPD; P07902; -.
DR jPOST; P07902; -.
DR MassIVE; P07902; -.
DR MaxQB; P07902; -.
DR PaxDb; P07902; -.
DR PeptideAtlas; P07902; -.
DR PRIDE; P07902; -.
DR ProteomicsDB; 18114; -.
DR ProteomicsDB; 52033; -. [P07902-1]
DR ABCD; P07902; 1 sequenced antibody.
DR Antibodypedia; 1384; 331 antibodies from 31 providers.
DR DNASU; 2592; -.
DR Ensembl; ENST00000378842.8; ENSP00000368119.4; ENSG00000213930.12. [P07902-1]
DR Ensembl; ENST00000450095.6; ENSP00000401956.2; ENSG00000213930.12. [P07902-2]
DR GeneID; 2592; -.
DR KEGG; hsa:2592; -.
DR MANE-Select; ENST00000378842.8; ENSP00000368119.4; NM_000155.4; NP_000146.2.
DR UCSC; uc003zve.5; human. [P07902-1]
DR CTD; 2592; -.
DR DisGeNET; 2592; -.
DR GeneCards; GALT; -.
DR GeneReviews; GALT; -.
DR HGNC; HGNC:4135; GALT.
DR HPA; ENSG00000213930; Tissue enhanced (liver).
DR MalaCards; GALT; -.
DR MIM; 230400; phenotype.
DR MIM; 606999; gene.
DR neXtProt; NX_P07902; -.
DR OpenTargets; ENSG00000213930; -.
DR Orphanet; 79239; Classic galactosemia.
DR PharmGKB; PA28548; -.
DR VEuPathDB; HostDB:ENSG00000213930; -.
DR eggNOG; KOG2958; Eukaryota.
DR GeneTree; ENSGT00390000016188; -.
DR HOGENOM; CLU_029960_2_0_1; -.
DR InParanoid; P07902; -.
DR OMA; HAIYYPP; -.
DR PhylomeDB; P07902; -.
DR TreeFam; TF300018; -.
DR BioCyc; MetaCyc:HS06274-MON; -.
DR BRENDA; 2.7.7.12; 2681.
DR PathwayCommons; P07902; -.
DR Reactome; R-HSA-5609978; Defective GALT can cause GALCT.
DR Reactome; R-HSA-70370; Galactose catabolism.
DR SABIO-RK; P07902; -.
DR SignaLink; P07902; -.
DR SIGNOR; P07902; -.
DR UniPathway; UPA00214; -.
DR BioGRID-ORCS; 2592; 11 hits in 1074 CRISPR screens.
DR ChiTaRS; GALT; human.
DR GeneWiki; Galactose%E2%80%941-phosphate_uridylyltransferase; -.
DR GenomeRNAi; 2592; -.
DR Pharos; P07902; Tbio.
DR PRO; PR:P07902; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; P07902; protein.
DR Bgee; ENSG00000213930; Expressed in right lobe of liver and 156 other tissues.
DR ExpressionAtlas; P07902; baseline and differential.
DR Genevisible; P07902; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
DR GO; GO:0008108; F:UDP-glucose:hexose-1-phosphate uridylyltransferase activity; IDA:UniProtKB.
DR GO; GO:0008270; F:zinc ion binding; IDA:UniProtKB.
DR GO; GO:0019388; P:galactose catabolic process; TAS:Reactome.
DR GO; GO:0033499; P:galactose catabolic process via UDP-galactose; IBA:GO_Central.
DR GO; GO:0006012; P:galactose metabolic process; IDA:UniProtKB.
DR GO; GO:0006258; P:UDP-glucose catabolic process; IEA:Ensembl.
DR GO; GO:0006011; P:UDP-glucose metabolic process; IDA:UniProtKB.
DR CDD; cd00608; GalT; 1.
DR Gene3D; 3.30.428.10; -; 2.
DR InterPro; IPR001937; GalP_UDPtransf1.
DR InterPro; IPR019779; GalP_UDPtransf1_His-AS.
DR InterPro; IPR005850; GalP_Utransf_C.
DR InterPro; IPR005849; GalP_Utransf_N.
DR InterPro; IPR036265; HIT-like_sf.
DR PANTHER; PTHR11943; PTHR11943; 1.
DR Pfam; PF02744; GalP_UDP_tr_C; 1.
DR Pfam; PF01087; GalP_UDP_transf; 1.
DR PIRSF; PIRSF000808; GalT; 1.
DR SUPFAM; SSF54197; SSF54197; 2.
DR TIGRFAMs; TIGR00209; galT_1; 1.
DR PROSITE; PS00117; GAL_P_UDP_TRANSF_I; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Carbohydrate metabolism; Cataract;
KW Disease variant; Galactose metabolism; Metal-binding;
KW Nucleotidyltransferase; Reference proteome; Transferase; Zinc.
FT CHAIN 1..379
FT /note="Galactose-1-phosphate uridylyltransferase"
FT /id="PRO_0000169882"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..17
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT ACT_SITE 186
FT /note="Tele-UMP-histidine intermediate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU10033,
FT ECO:0000269|PubMed:27005423"
FT BINDING 75
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU10033"
FT BINDING 81
FT /ligand="UDP-alpha-D-glucose"
FT /ligand_id="ChEBI:CHEBI:58885"
FT /ligand_note="ligand shared between dimeric partners"
FT /note="in other chain"
FT /evidence="ECO:0000305|PubMed:27005423"
FT BINDING 97..98
FT /ligand="UDP-alpha-D-glucose"
FT /ligand_id="ChEBI:CHEBI:58885"
FT /ligand_note="ligand shared between dimeric partners"
FT /note="in other chain"
FT /evidence="ECO:0000305|PubMed:27005423"
FT BINDING 173
FT /ligand="UDP-alpha-D-glucose"
FT /ligand_id="ChEBI:CHEBI:58885"
FT /ligand_note="ligand shared between dimeric partners"
FT /evidence="ECO:0000305|PubMed:27005423"
FT BINDING 184
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU10033"
FT BINDING 188
FT /ligand="UDP-alpha-D-glucose"
FT /ligand_id="ChEBI:CHEBI:58885"
FT /ligand_note="ligand shared between dimeric partners"
FT /note="in other chain"
FT /evidence="ECO:0000305|PubMed:27005423"
FT BINDING 202
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000269|PubMed:27005423"
FT BINDING 301
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000269|PubMed:27005423"
FT BINDING 319
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000269|PubMed:27005423"
FT BINDING 321
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000269|PubMed:27005423"
FT BINDING 334..337
FT /ligand="UDP-alpha-D-glucose"
FT /ligand_id="ChEBI:CHEBI:58885"
FT /ligand_note="ligand shared between dimeric partners"
FT /note="in other chain"
FT /evidence="ECO:0000305|PubMed:27005423"
FT BINDING 339..340
FT /ligand="UDP-alpha-D-glucose"
FT /ligand_id="ChEBI:CHEBI:58885"
FT /ligand_note="ligand shared between dimeric partners"
FT /note="in other chain"
FT /evidence="ECO:0000305|PubMed:27005423"
FT VAR_SEQ 1..17
FT /note="MSRSGTDPQQRQQASEA -> MTLSTLCVLGPSEPTES (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045604"
FT VAR_SEQ 18..126
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045605"
FT VARIANT 9
FT /note="Q -> H (in GALAC1; dbSNP:rs111033637)"
FT /evidence="ECO:0000269|PubMed:11919338"
FT /id="VAR_068531"
FT VARIANT 23
FT /note="T -> A (in GALAC1; dbSNP:rs111033635)"
FT /evidence="ECO:0000269|PubMed:11754113"
FT /id="VAR_068532"
FT VARIANT 28
FT /note="D -> H (in GALAC1; dbSNP:rs111033636)"
FT /evidence="ECO:0000269|PubMed:17041746"
FT /id="VAR_068533"
FT VARIANT 28
FT /note="D -> Y (in GALAC1; dbSNP:rs111033636)"
FT /evidence="ECO:0000269|PubMed:9222760"
FT /id="VAR_002548"
FT VARIANT 32
FT /note="I -> N (in GALAC1; mild; dbSNP:rs111033644)"
FT /evidence="ECO:0000269|PubMed:9222760"
FT /id="VAR_002549"
FT VARIANT 33
FT /note="R -> H (in GALAC1; dbSNP:rs111033829)"
FT /evidence="ECO:0000269|PubMed:17041746"
FT /id="VAR_068534"
FT VARIANT 33
FT /note="R -> P (in GALAC1)"
FT /evidence="ECO:0000269|PubMed:25592817"
FT /id="VAR_072793"
FT VARIANT 34
FT /note="Y -> N (in GALAC1; affects protein stability;
FT dbSNP:rs111033836)"
FT /evidence="ECO:0000269|PubMed:22461411,
FT ECO:0000269|PubMed:25592817"
FT /id="VAR_068535"
FT VARIANT 38
FT /note="Q -> P (in GALAC1; dbSNP:rs111033646)"
FT /evidence="ECO:0000269|PubMed:9222760"
FT /id="VAR_002550"
FT VARIANT 44
FT /note="V -> L (in GALAC1; dbSNP:rs111033647)"
FT /id="VAR_002551"
FT VARIANT 44
FT /note="V -> M (in GALAC1; reduced enzyme activity;
FT dbSNP:rs111033647)"
FT /evidence="ECO:0000269|PubMed:2011574"
FT /id="VAR_002552"
FT VARIANT 45
FT /note="S -> L (in GALAC1; dbSNP:rs111033652)"
FT /id="VAR_008042"
FT VARIANT 51
FT /note="R -> L (in GALAC1; dbSNP:rs111033648)"
FT /id="VAR_002553"
FT VARIANT 51
FT /note="R -> Q (in GALAC1; dbSNP:rs111033648)"
FT /evidence="ECO:0000269|PubMed:15841485"
FT /id="VAR_023328"
FT VARIANT 55
FT /note="G -> C (in GALAC1; dbSNP:rs111033654)"
FT /evidence="ECO:0000269|PubMed:8741038"
FT /id="VAR_002554"
FT VARIANT 62
FT /note="L -> M (in dbSNP:rs1800461)"
FT /evidence="ECO:0000269|PubMed:2011574"
FT /id="VAR_002555"
FT VARIANT 67
FT /note="R -> C (in GALAC1; dbSNP:rs111033658)"
FT /evidence="ECO:0000269|PubMed:8598637"
FT /id="VAR_002556"
FT VARIANT 74
FT /note="L -> P (in GALAC1; reduced enzyme activity;
FT dbSNP:rs111033663)"
FT /evidence="ECO:0000269|PubMed:1610789"
FT /id="VAR_002557"
FT VARIANT 81
FT /note="A -> T (in GALAC1; dbSNP:rs111033665)"
FT /id="VAR_002558"
FT VARIANT 83
FT /note="G -> V (in GALAC1)"
FT /evidence="ECO:0000269|PubMed:25592817"
FT /id="VAR_072794"
FT VARIANT 89
FT /note="Y -> H (in GALAC1; dbSNP:rs111033666)"
FT /evidence="ECO:0000269|PubMed:23022339"
FT /id="VAR_068824"
FT VARIANT 97
FT /note="N -> S (in GALAC1; dbSNP:rs111033669)"
FT /id="VAR_002559"
FT VARIANT 98
FT /note="D -> N (in GALAC1; dbSNP:rs111033670)"
FT /id="VAR_002560"
FT VARIANT 103
FT /note="Q -> R (in GALAC1; dbSNP:rs367543252)"
FT /evidence="ECO:0000269|PubMed:23022339"
FT /id="VAR_068825"
FT VARIANT 112
FT /note="S -> R (in GALAC1; dbSNP:rs367543254)"
FT /evidence="ECO:0000269|PubMed:18956253"
FT /id="VAR_068536"
FT VARIANT 113
FT /note="D -> N (in GALAC1; dbSNP:rs111033677)"
FT /id="VAR_002561"
FT VARIANT 114
FT /note="H -> L (in GALAC1; dbSNP:rs111033678)"
FT /id="VAR_002562"
FT VARIANT 117
FT /note="F -> S (in GALAC1; dbSNP:rs111033679)"
FT /id="VAR_002563"
FT VARIANT 118
FT /note="Q -> H (in GALAC1; dbSNP:rs111033673)"
FT /id="VAR_002564"
FT VARIANT 123
FT /note="R -> G (in GALAC1; dbSNP:rs111033674)"
FT /evidence="ECO:0000269|PubMed:9222760"
FT /id="VAR_002565"
FT VARIANT 123
FT /note="R -> Q (in GALAC1; dbSNP:rs111033675)"
FT /id="VAR_002566"
FT VARIANT 125
FT /note="V -> A (in GALAC1; dbSNP:rs111033680)"
FT /id="VAR_002567"
FT VARIANT 127
FT /note="K -> E (in GALAC1; dbSNP:rs111033682)"
FT /id="VAR_002568"
FT VARIANT 129
FT /note="M -> T (in GALAC1; dbSNP:rs111033683)"
FT /evidence="ECO:0000269|PubMed:11919338"
FT /id="VAR_008043"
FT VARIANT 130
FT /note="C -> Y (in GALAC1; dbSNP:rs367543255)"
FT /id="VAR_002569"
FT VARIANT 132
FT /note="H -> Q (in GALAC1; affects protein stability;
FT dbSNP:rs367543256)"
FT /evidence="ECO:0000269|PubMed:22461411"
FT /id="VAR_068537"
FT VARIANT 132
FT /note="H -> Y (in GALAC1; dbSNP:rs111033688)"
FT /id="VAR_002570"
FT VARIANT 135
FT /note="S -> L (in GALAC1; about 5% of normal galactose
FT uridylyltransferase activity; dbSNP:rs111033690)"
FT /evidence="ECO:0000269|PubMed:11754113,
FT ECO:0000269|PubMed:1610789, ECO:0000269|PubMed:22461411,
FT ECO:0000269|PubMed:25614870, ECO:0000269|PubMed:7887417"
FT /id="VAR_002571"
FT VARIANT 135
FT /note="S -> W (in GALAC1; dbSNP:rs111033690)"
FT /evidence="ECO:0000269|PubMed:15841485"
FT /id="VAR_023329"
FT VARIANT 138
FT /note="T -> M (in GALAC1; mild; dbSNP:rs111033686)"
FT /evidence="ECO:0000269|PubMed:11754113"
FT /id="VAR_002572"
FT VARIANT 139
FT /note="L -> P (in GALAC1; dbSNP:rs111033687)"
FT /id="VAR_002573"
FT VARIANT 142
FT /note="M -> K (in GALAC1; 4% of normal activity;
FT dbSNP:rs111033695)"
FT /evidence="ECO:0000269|PubMed:10220154,
FT ECO:0000269|PubMed:2011574"
FT /id="VAR_002574"
FT VARIANT 142
FT /note="M -> T (in GALAC1; dbSNP:rs111033695)"
FT /evidence="ECO:0000269|PubMed:25592817"
FT /id="VAR_072795"
FT VARIANT 142
FT /note="M -> V (in GALAC1; dbSNP:rs111033692)"
FT /id="VAR_002575"
FT VARIANT 143
FT /note="S -> L (in GALAC1; dbSNP:rs111033697)"
FT /evidence="ECO:0000269|PubMed:9222760"
FT /id="VAR_002576"
FT VARIANT 148
FT /note="R -> G (in GALAC1; dbSNP:rs111033693)"
FT /id="VAR_002577"
FT VARIANT 148
FT /note="R -> Q (in GALAC1; dbSNP:rs111033694)"
FT /evidence="ECO:0000269|PubMed:25614870"
FT /id="VAR_002578"
FT VARIANT 148
FT /note="R -> W (in GALAC1; unstable protein;
FT dbSNP:rs111033693)"
FT /evidence="ECO:0000269|PubMed:1373122"
FT /id="VAR_002579"
FT VARIANT 150
FT /note="V -> L (in GALAC1; dbSNP:rs111033699)"
FT /evidence="ECO:0000269|PubMed:8956044"
FT /id="VAR_002580"
FT VARIANT 151
FT /note="V -> A (in GALAC1; approximately 3% of normal
FT activity; dbSNP:rs111033701)"
FT /evidence="ECO:0000269|PubMed:7887417"
FT /id="VAR_002581"
FT VARIANT 154
FT /note="W -> G (in GALAC1; dbSNP:rs111033702)"
FT /id="VAR_002582"
FT VARIANT 166
FT /note="P -> A (in GALAC1; dbSNP:rs367543257)"
FT /evidence="ECO:0000269|PubMed:23022339"
FT /id="VAR_068826"
FT VARIANT 167
FT /note="W -> R (in GALAC1; dbSNP:rs111033708)"
FT /id="VAR_008044"
FT VARIANT 168
FT /note="V -> L (in GALAC1; loss of activity;
FT dbSNP:rs367543258)"
FT /evidence="ECO:0000269|PubMed:22461411"
FT /id="VAR_068538"
FT VARIANT 170
FT /note="I -> T (in GALAC1; loss of activity;
FT dbSNP:rs111033839)"
FT /evidence="ECO:0000269|PubMed:22461411"
FT /id="VAR_068539"
FT VARIANT 171
FT /note="F -> S (in GALAC1; reduced enzyme activity;
FT dbSNP:rs111033715)"
FT /evidence="ECO:0000269|PubMed:1610789,
FT ECO:0000269|PubMed:23022339"
FT /id="VAR_002583"
FT VARIANT 175
FT /note="G -> D (in GALAC1; reduces strongly galactose
FT uridylyltransferase activity; dbSNP:rs111033718)"
FT /evidence="ECO:0000269|PubMed:25614870"
FT /id="VAR_072796"
FT VARIANT 179
FT /note="G -> D (in GALAC1; dbSNP:rs111033720)"
FT /id="VAR_002584"
FT VARIANT 181
FT /note="S -> A (in GALAC1; dbSNP:rs111033828)"
FT /evidence="ECO:0000269|PubMed:17041746"
FT /id="VAR_068540"
FT VARIANT 181
FT /note="S -> F (in GALAC1; dbSNP:rs367543259)"
FT /evidence="ECO:0000269|PubMed:23022339"
FT /id="VAR_068827"
FT VARIANT 183
FT /note="P -> T (in GALAC1; dbSNP:rs111033721)"
FT /evidence="ECO:0000269|PubMed:8869397,
FT ECO:0000269|PubMed:8956044"
FT /id="VAR_002585"
FT VARIANT 184
FT /note="H -> Q (in GALAC1; dbSNP:rs111033717)"
FT /evidence="ECO:0000269|PubMed:11754113"
FT /id="VAR_002586"
FT VARIANT 185
FT /note="P -> H (in GALAC1; loss of activity;
FT dbSNP:rs111033722)"
FT /evidence="ECO:0000269|PubMed:17876724,
FT ECO:0000269|PubMed:22461411"
FT /id="VAR_068541"
FT VARIANT 185
FT /note="P -> L (in GALAC1; dbSNP:rs111033722)"
FT /evidence="ECO:0000269|PubMed:23022339"
FT /id="VAR_068828"
FT VARIANT 185
FT /note="P -> S (in GALAC1; dbSNP:rs111033826)"
FT /evidence="ECO:0000269|PubMed:17041746,
FT ECO:0000269|PubMed:25614870"
FT /id="VAR_068542"
FT VARIANT 188
FT /note="Q -> R (in GALAC1; most common mutation; 10% of
FT normal galactose uridylyltransferase activity; impairs
FT protein folding; dbSNP:rs75391579)"
FT /evidence="ECO:0000269|PubMed:11754113,
FT ECO:0000269|PubMed:1427861, ECO:0000269|PubMed:18956253,
FT ECO:0000269|PubMed:1897530, ECO:0000269|PubMed:22461411,
FT ECO:0000269|PubMed:23022339, ECO:0000269|PubMed:25592817,
FT ECO:0000269|PubMed:25614870, ECO:0000269|PubMed:27005423,
FT ECO:0000269|PubMed:7887417, ECO:0000269|PubMed:8956044"
FT /id="VAR_002587"
FT VARIANT 192
FT /note="S -> G (in GALAC1; dbSNP:rs111033830)"
FT /evidence="ECO:0000269|PubMed:17041746"
FT /id="VAR_068543"
FT VARIANT 192
FT /note="S -> N (in GALAC1; dbSNP:rs111033734)"
FT /id="VAR_002588"
FT VARIANT 194
FT /note="F -> L (in GALAC1; dbSNP:rs111033726)"
FT /id="VAR_002589"
FT VARIANT 195
FT /note="L -> P (in GALAC1; no enzymatic activity;
FT dbSNP:rs111033728)"
FT /evidence="ECO:0000269|PubMed:11754113,
FT ECO:0000269|PubMed:1373122"
FT /id="VAR_002590"
FT VARIANT 198
FT /note="I -> M (in GALAC1; dbSNP:rs111033729)"
FT /id="VAR_002591"
FT VARIANT 198
FT /note="I -> T (in GALAC1; dbSNP:rs1483461355)"
FT /id="VAR_002592"
FT VARIANT 199
FT /note="A -> T (in GALAC1; dbSNP:rs111033730)"
FT /id="VAR_002593"
FT VARIANT 201
FT /note="R -> C (in GALAC1; 2-fold decrease in activity;
FT dbSNP:rs111033739)"
FT /evidence="ECO:0000269|PubMed:17876724,
FT ECO:0000269|PubMed:22461411"
FT /id="VAR_068544"
FT VARIANT 201
FT /note="R -> H (in GALAC1; dbSNP:rs111033735)"
FT /id="VAR_002594"
FT VARIANT 203
FT /note="E -> K (in GALAC1; dbSNP:rs111033736)"
FT /id="VAR_002595"
FT VARIANT 204
FT /note="R -> P (in GALAC1; dbSNP:rs111033740)"
FT /id="VAR_008045"
FT VARIANT 209
FT /note="Y -> C (in GALAC1; dbSNP:rs111033744)"
FT /id="VAR_002596"
FT VARIANT 209
FT /note="Y -> S (in GALAC1; dbSNP:rs111033744)"
FT /id="VAR_002597"
FT VARIANT 212
FT /note="Q -> H (in GALAC1)"
FT /id="VAR_002598"
FT VARIANT 217
FT /note="L -> P (in GALAC1; dbSNP:rs111033741)"
FT /id="VAR_002599"
FT VARIANT 220
FT /note="E -> K (in GALAC1; 3-fold decrease in activity;
FT dbSNP:rs111033747)"
FT /evidence="ECO:0000269|PubMed:17876724,
FT ECO:0000269|PubMed:22461411"
FT /id="VAR_068545"
FT VARIANT 223
FT /note="R -> S (in GALAC1; 3-fold decrease in activity;
FT dbSNP:rs111033750)"
FT /evidence="ECO:0000269|PubMed:17876724,
FT ECO:0000269|PubMed:22461411"
FT /id="VAR_068546"
FT VARIANT 226
FT /note="L -> P (in GALAC1; dbSNP:rs111033752)"
FT /id="VAR_002600"
FT VARIANT 227
FT /note="L -> P (in GALAC1; results in no detectable protein
FT in the soluble fraction; dbSNP:rs111033846)"
FT /evidence="ECO:0000269|PubMed:22461411"
FT /id="VAR_068547"
FT VARIANT 229
FT /note="K -> N (in GALAC1; dbSNP:rs111033753)"
FT /evidence="ECO:0000269|PubMed:15841485"
FT /id="VAR_023330"
FT VARIANT 231
FT /note="R -> C (in GALAC1; dbSNP:rs111033749)"
FT /evidence="ECO:0000269|PubMed:25614870"
FT /id="VAR_072797"
FT VARIANT 231
FT /note="R -> H (in GALAC1; 15% of normal activity;
FT dbSNP:rs111033754)"
FT /evidence="ECO:0000269|PubMed:25614870,
FT ECO:0000269|PubMed:7550229"
FT /id="VAR_002601"
FT VARIANT 244
FT /note="P -> S (in GALAC1)"
FT /evidence="ECO:0000269|PubMed:25592817"
FT /id="VAR_072798"
FT VARIANT 249
FT /note="W -> R (in GALAC1; dbSNP:rs111033757)"
FT /id="VAR_002602"
FT VARIANT 251
FT /note="Y -> C (in GALAC1; dbSNP:rs111033755)"
FT /id="VAR_002603"
FT VARIANT 251
FT /note="Y -> S (in GALAC1; dbSNP:rs111033755)"
FT /evidence="ECO:0000269|PubMed:11754113"
FT /id="VAR_002604"
FT VARIANT 252
FT /note="Q -> H (in GALAC1; dbSNP:rs111033769)"
FT /evidence="ECO:0000269|PubMed:15841485"
FT /id="VAR_023331"
FT VARIANT 258
FT /note="R -> C (in GALAC1; dbSNP:rs368166217)"
FT /id="VAR_002605"
FT VARIANT 259
FT /note="R -> Q (in GALAC1; loss of activity;
FT dbSNP:rs886042070)"
FT /evidence="ECO:0000269|PubMed:22461411"
FT /id="VAR_068548"
FT VARIANT 259
FT /note="R -> W (in GALAC1; mild; dbSNP:rs786204763)"
FT /id="VAR_002606"
FT VARIANT 262
FT /note="R -> P (in GALAC1; dbSNP:rs111033763)"
FT /id="VAR_002607"
FT VARIANT 263
FT /note="Missing (in GALAC1)"
FT /id="VAR_008046"
FT VARIANT 265
FT /note="P -> A (in GALAC1; dbSNP:rs111033764)"
FT /evidence="ECO:0000269|PubMed:17041746"
FT /id="VAR_068549"
FT VARIANT 267
FT /note="L -> R (in GALAC1)"
FT /evidence="ECO:0000269|PubMed:25592817"
FT /id="VAR_072799"
FT VARIANT 267
FT /note="L -> V (in GALAC1)"
FT /evidence="ECO:0000269|PubMed:25592817"
FT /id="VAR_072800"
FT VARIANT 271
FT /note="E -> D (in GALAC1; dbSNP:rs1262475195)"
FT /evidence="ECO:0000269|PubMed:25592817"
FT /id="VAR_072801"
FT VARIANT 272
FT /note="R -> G (in GALAC1; dbSNP:rs111033766)"
FT /id="VAR_008047"
FT VARIANT 278
FT /note="I -> N (in GALAC1; 18-fold decrease in activity;
FT dbSNP:rs111033778)"
FT /evidence="ECO:0000269|PubMed:17876724,
FT ECO:0000269|PubMed:22461411"
FT /id="VAR_068550"
FT VARIANT 282
FT /note="L -> V (in GALAC1; dbSNP:rs111033772)"
FT /id="VAR_002608"
FT VARIANT 285
FT /note="K -> N (in GALAC1; severe; impairs protein folding;
FT nearly abolishes enzyme activity; dbSNP:rs111033773)"
FT /evidence="ECO:0000269|PubMed:10220154,
FT ECO:0000269|PubMed:11754113, ECO:0000269|PubMed:25592817,
FT ECO:0000269|PubMed:25614870, ECO:0000269|PubMed:27005423"
FT /id="VAR_002609"
FT VARIANT 285
FT /note="K -> R (in GALAC1; dbSNP:rs367543263)"
FT /evidence="ECO:0000269|PubMed:23022339"
FT /id="VAR_068829"
FT VARIANT 289
FT /note="L -> F (in GALAC1; 3-fold decrease in activity;
FT dbSNP:rs111033774)"
FT /evidence="ECO:0000269|PubMed:17876724,
FT ECO:0000269|PubMed:22461411"
FT /id="VAR_068551"
FT VARIANT 289
FT /note="L -> R (in GALAC1; dbSNP:rs111033775)"
FT /id="VAR_002610"
FT VARIANT 291
FT /note="E -> K (in GALAC1; dbSNP:rs111033780)"
FT /id="VAR_002611"
FT VARIANT 291
FT /note="E -> V (in GALAC1; 2-fold decrease in activity;
FT dbSNP:rs111033841)"
FT /evidence="ECO:0000269|PubMed:22461411"
FT /id="VAR_068552"
FT VARIANT 294
FT /note="F -> Y (in GALAC1; dbSNP:rs111033781)"
FT /evidence="ECO:0000269|PubMed:10220154"
FT /id="VAR_008048"
FT VARIANT 308
FT /note="E -> K (in GALAC1; dbSNP:rs111033784)"
FT /id="VAR_002612"
FT VARIANT 314
FT /note="N -> D (in GALAC1; allele Duarte; exists as allelic
FT variants Duarte-1 and Duarte-2; Duarte-1 has normal or
FT increased activity; Duarte-2 has activity reduced to about
FT 35-45% of normal; dbSNP:rs2070074)"
FT /evidence="ECO:0000269|PubMed:11754113,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18956253,
FT ECO:0000269|PubMed:2011574, ECO:0000269|PubMed:23022339,
FT ECO:0000269|PubMed:25592817, ECO:0000269|PubMed:25614870,
FT ECO:0000269|PubMed:7550229, ECO:0000269|PubMed:8112740,
FT ECO:0000269|Ref.4"
FT /id="VAR_002613"
FT VARIANT 317
FT /note="Q -> H (in GALAC1; dbSNP:rs111033787)"
FT /id="VAR_002614"
FT VARIANT 317
FT /note="Q -> R (in GALAC1; dbSNP:rs111033786)"
FT /id="VAR_002615"
FT VARIANT 319
FT /note="H -> Q (in GALAC1; dbSNP:rs111033792)"
FT /evidence="ECO:0000269|PubMed:23022339,
FT ECO:0000269|PubMed:8499924, ECO:0000269|PubMed:8956044"
FT /id="VAR_002616"
FT VARIANT 320
FT /note="A -> T (in GALAC1; dbSNP:rs111033795)"
FT /evidence="ECO:0000269|PubMed:10220154"
FT /id="VAR_002617"
FT VARIANT 323
FT /note="Y -> D (in GALAC1; dbSNP:rs111033796)"
FT /id="VAR_002618"
FT VARIANT 323
FT /note="Y -> H (in GALAC1; dbSNP:rs111033796)"
FT /id="VAR_002619"
FT VARIANT 324
FT /note="P -> S (in GALAC1; dbSNP:rs111033798)"
FT /id="VAR_002620"
FT VARIANT 325
FT /note="P -> L (in GALAC1; dbSNP:rs111033794)"
FT /evidence="ECO:0000269|PubMed:9222760"
FT /id="VAR_002621"
FT VARIANT 327
FT /note="L -> P (in GALAC1; results in no detectable protein
FT in the soluble fraction; dbSNP:rs111033832)"
FT /evidence="ECO:0000269|PubMed:22461411"
FT /id="VAR_068553"
FT VARIANT 328
FT /note="R -> H (in GALAC1; dbSNP:rs111033802)"
FT /id="VAR_002622"
FT VARIANT 329
FT /note="S -> F (in GALAC1; dbSNP:rs111033803)"
FT /evidence="ECO:0000269|PubMed:8741038"
FT /id="VAR_002623"
FT VARIANT 330
FT /note="A -> V (in GALAC1; mild; dbSNP:rs111033804)"
FT /evidence="ECO:0000269|PubMed:8598637"
FT /id="VAR_002624"
FT VARIANT 333
FT /note="R -> G (in GALAC1; dbSNP:rs111033800)"
FT /id="VAR_002625"
FT VARIANT 333
FT /note="R -> L (in GALAC1; dbSNP:rs111033808)"
FT /evidence="ECO:0000269|PubMed:23022339"
FT /id="VAR_068830"
FT VARIANT 333
FT /note="R -> Q (in GALAC1; dbSNP:rs111033808)"
FT /id="VAR_002626"
FT VARIANT 333
FT /note="R -> W (in GALAC1; no enzymatic activity;
FT dbSNP:rs111033800)"
FT /evidence="ECO:0000269|PubMed:1897530,
FT ECO:0000269|PubMed:25592817, ECO:0000269|PubMed:7550229"
FT /id="VAR_002627"
FT VARIANT 334
FT /note="K -> R (in GALAC1; dbSNP:rs111033809)"
FT /id="VAR_002628"
FT VARIANT 336
FT /note="M -> L (in GALAC1; dbSNP:rs111033810)"
FT /id="VAR_002629"
FT VARIANT 342
FT /note="L -> I (in GALAC1; dbSNP:rs111033812)"
FT /evidence="ECO:0000269|PubMed:11919338"
FT /id="VAR_068554"
FT VARIANT 344
FT /note="Q -> K (in GALAC1; dbSNP:rs111033814)"
FT /evidence="ECO:0000269|PubMed:11754113"
FT /id="VAR_002630"
FT VARIANT 345
FT /note="A -> D (in GALAC1; dbSNP:rs111033815)"
FT /evidence="ECO:0000269|PubMed:11754113"
FT /id="VAR_068555"
FT VARIANT 350
FT /note="T -> A (in GALAC1; mild; dbSNP:rs111033817)"
FT /id="VAR_002631"
FT CONFLICT 258..259
FT /note="RR -> VG (in Ref. 1; AAC83409)"
FT /evidence="ECO:0000305"
FT CONFLICT 335
FT /note="F -> L (in Ref. 5; BAG64359)"
FT /evidence="ECO:0000305"
FT TURN 26..28
FT /evidence="ECO:0007829|PDB:5IN3"
FT STRAND 31..35
FT /evidence="ECO:0007829|PDB:6GQD"
FT TURN 36..39
FT /evidence="ECO:0007829|PDB:6GQD"
FT STRAND 40..44
FT /evidence="ECO:0007829|PDB:6GQD"
FT STRAND 93..96
FT /evidence="ECO:0007829|PDB:6GQD"
FT STRAND 111..114
FT /evidence="ECO:0007829|PDB:6GQD"
FT STRAND 117..119
FT /evidence="ECO:0007829|PDB:6GQD"
FT STRAND 124..131
FT /evidence="ECO:0007829|PDB:6GQD"
FT HELIX 139..141
FT /evidence="ECO:0007829|PDB:6GQD"
FT HELIX 144..162
FT /evidence="ECO:0007829|PDB:6GQD"
FT STRAND 166..175
FT /evidence="ECO:0007829|PDB:6GQD"
FT HELIX 176..178
FT /evidence="ECO:0007829|PDB:6GQD"
FT STRAND 184..194
FT /evidence="ECO:0007829|PDB:6GQD"
FT HELIX 197..213
FT /evidence="ECO:0007829|PDB:6GQD"
FT HELIX 217..228
FT /evidence="ECO:0007829|PDB:6GQD"
FT STRAND 232..235
FT /evidence="ECO:0007829|PDB:6GQD"
FT STRAND 237..242
FT /evidence="ECO:0007829|PDB:6GQD"
FT STRAND 253..259
FT /evidence="ECO:0007829|PDB:6GQD"
FT HELIX 264..266
FT /evidence="ECO:0007829|PDB:6GQD"
FT HELIX 269..289
FT /evidence="ECO:0007829|PDB:6GQD"
FT STRAND 296..301
FT /evidence="ECO:0007829|PDB:6GQD"
FT HELIX 306..308
FT /evidence="ECO:0007829|PDB:6GQD"
FT STRAND 319..323
FT /evidence="ECO:0007829|PDB:6GQD"
FT STRAND 328..331
FT /evidence="ECO:0007829|PDB:6GQD"
FT HELIX 339..342
FT /evidence="ECO:0007829|PDB:6GQD"
FT STRAND 345..349
FT /evidence="ECO:0007829|PDB:6GQD"
FT HELIX 351..360
FT /evidence="ECO:0007829|PDB:6GQD"
SQ SEQUENCE 379 AA; 43363 MW; 99945FF99C4F0066 CRC64;
MSRSGTDPQQ RQQASEADAA AATFRANDHQ HIRYNPLQDE WVLVSAHRMK RPWQGQVEPQ
LLKTVPRHDP LNPLCPGAIR ANGEVNPQYD STFLFDNDFP ALQPDAPSPG PSDHPLFQAK
SARGVCKVMC FHPWSDVTLP LMSVPEIRAV VDAWASVTEE LGAQYPWVQI FENKGAMMGC
SNPHPHCQVW ASSFLPDIAQ REERSQQAYK SQHGEPLLME YSRQELLRKE RLVLTSEHWL
VLVPFWATWP YQTLLLPRRH VRRLPELTPA ERDDLASIMK KLLTKYDNLF ETSFPYSMGW
HGAPTGSEAG ANWNHWQLHA HYYPPLLRSA TVRKFMVGYE MLAQAQRDLT PEQAAERLRA
LPEVHYHLGQ KDRETATIA
