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2024-04-20 15:40:35, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001244710 8703 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens glutamine--fructose-6-phosphate transaminase 1
(GFPT1), transcript variant 1, mRNA.
ACCESSION NM_001244710
VERSION NM_001244710.1 GI:347659027
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 8703)
AUTHORS Huh,S.Y., Kim,H.S., Jang,H.J., Park,Y.E. and Kim,D.S.
TITLE Limb-girdle myasthenia with tubular aggregates associated with
novel GFPT1 mutations
JOURNAL Muscle Nerve 46 (4), 600-604 (2012)
PUBMED 22987706
REMARK GeneRIF: GFPT1 is the key enzyme in the hexosamine biosynthesis
pathway. Mutations in GFPT1 cause defective glycosylation in the
proteins of the neuromuscular junction.
Review article
REFERENCE 2 (bases 1 to 8703)
AUTHORS Senderek,J., Muller,J.S., Dusl,M., Strom,T.M., Guergueltcheva,V.,
Diepolder,I., Laval,S.H., Maxwell,S., Cossins,J., Krause,S.,
Muelas,N., Vilchez,J.J., Colomer,J., Mallebrera,C.J.,
Nascimento,A., Nafissi,S., Kariminejad,A., Nilipour,Y.,
Bozorgmehr,B., Najmabadi,H., Rodolico,C., Sieb,J.P.,
Steinlein,O.K., Schlotter,B., Schoser,B., Kirschner,J.,
Herrmann,R., Voit,T., Oldfors,A., Lindbergh,C., Urtizberea,A., von
der Hagen,M., Hubner,A., Palace,J., Bushby,K., Straub,V.,
Beeson,D., Abicht,A. and Lochmuller,H.
TITLE Hexosamine biosynthetic pathway mutations cause neuromuscular
transmission defect
JOURNAL Am. J. Hum. Genet. 88 (2), 162-172 (2011)
PUBMED 21310273
REMARK GeneRIF: Downregulation of the GFPT1 is associated with
neuromuscular transmission defect.
REFERENCE 3 (bases 1 to 8703)
AUTHORS Dong,X., Tang,H., Hess,K.R., Abbruzzese,J.L. and Li,D.
TITLE Glucose metabolism gene polymorphisms and clinical outcome in
pancreatic cancer
JOURNAL Cancer 117 (3), 480-491 (2011)
PUBMED 20845477
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (bases 1 to 8703)
AUTHORS Eguchi,S., Oshiro,N., Miyamoto,T., Yoshino,K., Okamoto,S., Ono,T.,
Kikkawa,U. and Yonezawa,K.
TITLE AMP-activated protein kinase phosphorylates glutamine :
fructose-6-phosphate amidotransferase 1 at Ser243 to modulate its
enzymatic activity
JOURNAL Genes Cells 14 (2), 179-189 (2009)
PUBMED 19170765
REMARK GeneRIF: The phosphorylation of GFAT1 at Ser243 by AMPK has an
important role in the regulation of the GFAT1 enzymatic activity.
REFERENCE 5 (bases 1 to 8703)
AUTHORS Nerlich,A.G., Sauer,U., Kolm-Litty,V., Wagner,E., Koch,M. and
Schleicher,E.D.
TITLE Expression of glutamine:fructose-6-phosphate amidotransferase in
human tissues: evidence for high variability and distinct
regulation in diabetes
JOURNAL Diabetes 47 (2), 170-178 (1998)
PUBMED 9519709
REFERENCE 6 (bases 1 to 8703)
AUTHORS Zhou,J., Neidigh,J.L., Espinosa,R. III, LeBeau,M.M. and
McClain,D.A.
TITLE Human glutamine: fructose-6-phosphate amidotransferase:
characterization of mRNA and chromosomal assignment to 2p13
JOURNAL Hum. Genet. 96 (1), 99-101 (1995)
PUBMED 7607664
REFERENCE 7 (bases 1 to 8703)
AUTHORS Whitmore,T.E., Mudri,S.L. and McKnight,G.L.
TITLE Physical mapping of the human glutamine:fructose-6-phosphate
amidotransferase gene (GFPT) to chromosome 2p13
JOURNAL Genomics 26 (2), 422-423 (1995)
PUBMED 7601477
REFERENCE 8 (bases 1 to 8703)
AUTHORS Sayeski,P.P., Paterson,A.J. and Kudlow,J.E.
TITLE The murine glutamine:fructose-6-phosphate amidotransferase-encoding
cDNA sequence
JOURNAL Gene 140 (2), 289-290 (1994)
PUBMED 8144040
REFERENCE 9 (bases 1 to 8703)
AUTHORS McKnight,G.L., Mudri,S.L., Mathewes,S.L., Traxinger,R.R.,
Marshall,S., Sheppard,P.O. and O'Hara,P.J.
TITLE Molecular cloning, cDNA sequence, and bacterial expression of human
glutamine:fructose-6-phosphate amidotransferase
JOURNAL J. Biol. Chem. 267 (35), 25208-25212 (1992)
PUBMED 1460020
REFERENCE 10 (bases 1 to 8703)
AUTHORS Traxinger,R.R. and Marshall,S.
TITLE Coordinated regulation of glutamine:fructose-6-phosphate
amidotransferase activity by insulin, glucose, and glutamine. Role
of hexosamine biosynthesis in enzyme regulation
JOURNAL J. Biol. Chem. 266 (16), 10148-10154 (1991)
PUBMED 2037571
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BI560595.1, DB133199.1,
AF334737.1, M90516.1 and AC114772.5.
This sequence is a reference standard in the RefSeqGene project.
Summary: This gene encodes the first and rate-limiting enzyme of
the hexosamine pathway and controls the flux of glucose into the
hexosamine pathway. The product of this gene catalyzes the
formation of glucosamine 6-phosphate. [provided by RefSeq, Sep
2008].
Transcript Variant: This variant (1) represents the longer
transcript and it encodes the longer protein (isoform 1).
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data because no single transcript for this
combination of exons and introns was available for the full length
of the gene. The extent of this transcript is supported by mouse
accession AF334736.1 and PubMed ID: 11679416.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
RNAseq introns :: mixed/partial sample support ERS025081, ERS025082
[ECO:0000350]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-532 BI560595.1 9-540
533-726 DB133199.1 329-522
727-1008 AF334737.1 175-456
1009-3082 M90516.1 894-2967
3083-8703 AC114772.5 13797-19417 c
FEATURES Location/Qualifiers
source 1..8703
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p13"
gene 1..8703
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/note="glutamine--fructose-6-phosphate transaminase 1"
/db_xref="GeneID:2673"
/db_xref="HGNC:4241"
/db_xref="MIM:138292"
exon 1..190
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
CDS 184..2283
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/EC_number="2.6.1.16"
/note="isoform 1 is encoded by transcript variant 1;
glucosamine--fructose-6-phosphate aminotransferase
[isomerizing] 1; hexosephosphate aminotransferase 1;
D-fructose-6-phosphate amidotransferase 1;
glutamine:fructose 6 phosphate amidotransferase 1;
glutamine:fructose-6-phosphate amidotransferase 1;
glutamine--fructose-6-phosphate aminotransferase
[isomerizing] 1"
/codon_start=1
/product="glutamine--fructose-6-phosphate aminotransferase
[isomerizing] 1 isoform 1"
/protein_id="NP_001231639.1"
/db_xref="GI:347659028"
/db_xref="CCDS:CCDS58713.1"
/db_xref="GeneID:2673"
/db_xref="HGNC:4241"
/db_xref="MIM:138292"
/translation="
MCGIFAYLNYHVPRTRREILETLIKGLQRLEYRGYDSAGVGFDGGNDKDWEANACKIQLIKKKGKVKALDEEVHKQQDMDLDIEFDVHLGIAHTRWATHGEPSPVNSHPQRSDKNNEFIVIHNGIITNYKDLKKFLESKGYDFESETDTETIAKLVKYMYDNRESQDTSFTTLVERVIQQLEGAFALVFKSVHFPGQAVGTRRGSPLLIGVRSEHKLSTDHIPILYRTARTQIGSKFTRWGSQGERGKDKKGSCNLSRVDSTTCLFPVEEKAVEYYFASDASAVIEHTNRVIFLEDDDVAAVVDGRLSIHRIKRTAGDHPGRAVQTLQMELQQIMKGNFSSFMQKEIFEQPESVVNTMRGRVNFDDYTVNLGGLKDHIKEIQRCRRLILIACGTSYHAGVATRQVLEELTELPVMVELASDFLDRNTPVFRDDVCFFLSQSGETADTLMGLRYCKERGALTVGITNTVGSSISRETDCGVHINAGPEIGVASTKAYTSQFVSLVMFALMMCDDRISMQERRKEIMLGLKRLPDLIKEVLSMDDEIQKLATELYHQKSVLIMGRGYHYATCLEGALKIKEITYMHSEGILAGELKHGPLALVDKLMPVIMIIMRDHTYAKCQNALQQVVARQGRPVVICDKEDTETIKNTKRTIKVPHSVDCLQGILSVIPLQLLAFHLAVLRGYDVDFPRNLAKSVTVE
"
misc_feature 184..2280
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/note="glucosamine:fructose-6-phosphate aminotransferase;
Region: PLN02981"
/db_xref="CDD:178562"
misc_feature 187..873
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/note="Glutamine amidotransferases class-II
(Gn-AT)_GFAT-type. This domain is found at the N-terminus
of glucosamine-6P synthase (GlmS, or GFAT in humans). The
glutaminase domain catalyzes amide nitrogen transfer from
glutamine to the appropriate substrate. In...; Region:
GFAT; cd00714"
/db_xref="CDD:48478"
misc_feature order(187..189,280..282,466..471,475..480,505..507,
550..555,625..630)
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/note="glutaminase active site [active]"
/db_xref="CDD:48478"
misc_feature 964..966
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q06210.3); phosphorylation site"
misc_feature <994..1089
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/note="Glutamine amidotransferases class-II (GATase). The
glutaminase domain catalyzes an amide nitrogen transfer
from glutamine to the appropriate substrate. In this
process, glutamine is hydrolyzed to glutamic acid and
ammonia. This domain is related to...; Region: Gn_AT_II;
cl00319"
/db_xref="CDD:213093"
misc_feature 1339..1716
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/note="SIS (Sugar ISomerase) domain repeat 1 found in
Glucosamine 6-phosphate synthase (GlmS) and
Glucosamine-6-phosphate deaminase (GlmD). The SIS domain
is found in many phosphosugar isomerases and phosphosugar
binding proteins. GlmS contains a N-terminal...; Region:
SIS_GlmS_GlmD_1; cd05008"
/db_xref="CDD:88405"
misc_feature order(1357..1362,1390..1395,1402..1407,1426..1428,
1432..1434,1444..1446,1453..1455,1519..1521)
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/note="dimer interface [polypeptide binding]; other site"
/db_xref="CDD:88405"
misc_feature order(1363..1368,1498..1506)
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/note="active site"
/db_xref="CDD:88405"
misc_feature 1810..2274
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/note="SIS (Sugar ISomerase) domain repeat 2 found in
Glucosamine 6-phosphate synthase (GlmS) and
Glucosamine-6-phosphate deaminase (GlmD). The SIS domain
is found in many phosphosugar isomerases and phosphosugar
binding proteins. GlmS contains a N-terminal...; Region:
SIS_GlmS_GlmD_2; cd05009"
/db_xref="CDD:88406"
misc_feature order(1873..1875,1915..1917,1927..1929,1933..1935,
1939..1941,1945..1947,1957..1959,1963..1971,1975..1986,
2035..2040,2050..2052,2056..2061,2251..2256,2269..2271)
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/note="dimer interface [polypeptide binding]; other site"
/db_xref="CDD:88406"
misc_feature order(1909..1911,1918..1920)
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/note="active site"
/db_xref="CDD:88406"
exon 191..298
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
exon 299..406
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
variation 330
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:2230300"
exon 407..532
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
exon 533..591
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
exon 592..726
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
exon 727..788
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
exon 789..868
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
exon 869..922
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
exon 923..1028
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
exon 1029..1192
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
exon 1193..1288
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
exon 1289..1386
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
exon 1387..1507
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
exon 1508..1665
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
exon 1666..1780
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
exon 1781..1908
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
exon 1909..2076
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
exon 2077..2238
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
exon 2239..8703
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/inference="alignment:Splign:1.39.8"
STS 2350..3187
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/standard_name="GFPT1_3984"
/db_xref="UniSTS:463260"
STS 2365..2577
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/standard_name="SHGC-31513"
/db_xref="UniSTS:18194"
STS 2678..2869
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/standard_name="RH17749"
/db_xref="UniSTS:35429"
variation 2827
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/replace="g"
/replace="t"
/db_xref="dbSNP:1803646"
STS 3058..3186
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/standard_name="WI-13967"
/db_xref="UniSTS:6731"
STS 3058..3179
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/standard_name="G59499"
/db_xref="UniSTS:136663"
variation 3083
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/replace="g"
/replace="t"
/db_xref="dbSNP:2667"
variation 3452
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/replace="a"
/replace="c"
/db_xref="dbSNP:3182038"
STS 4605..4693
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/standard_name="D8S2279"
/db_xref="UniSTS:473907"
variation 6336
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/replace="a"
/replace="t"
/db_xref="dbSNP:4128250"
STS 6681..6833
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/standard_name="RH94297"
/db_xref="UniSTS:91279"
variation 6731
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/replace="a"
/replace="t"
/db_xref="dbSNP:4493312"
variation 7670
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:200306923"
variation 8046
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/replace="c"
/replace="t"
/db_xref="dbSNP:1044784"
variation 8080
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/replace="a"
/replace="t"
/db_xref="dbSNP:1044785"
STS 8313..8457
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/standard_name="RH99057"
/db_xref="UniSTS:88027"
variation 8368
/gene="GFPT1"
/gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
GFPT; GFPT1L; MSLG"
/replace="c"
/replace="g"
/db_xref="dbSNP:7642"
ORIGIN
ggttgctggcggagcccgggaggcggagaaggctgtcgttgccttggccgtcgcatccccgagggagtcgtgtcggcgccaccccggcccccgagcccgcagattgcccaccgaagctcgtgtgtgcacccccgatcccgccagccactcgcccctggcctcgcgggccgtgtctccggcatcatgtgtggtatatttgcttacttaaactaccatgttcctcgaacgagacgagaaatcctggagaccctaatcaaaggccttcagagactggagtacagaggatatgattctgctggtgtgggatttgatggaggcaatgataaagattgggaagccaatgcctgcaaaatccagcttattaagaagaaaggaaaagttaaggcactggatgaagaagttcacaagcaacaagatatggatttggatatagaatttgatgtacaccttggaatagctcatacccgttgggcaacacatggagaacccagtcctgtcaatagccacccccagcgctctgataaaaataatgaatttatcgttattcacaatggaatcatcaccaactacaaagacttgaaaaagtttttggaaagcaaaggctatgacttcgaatctgaaacagacacagagacaattgccaagctcgttaagtatatgtatgacaatcgggaaagtcaagataccagctttactaccttggtggagagagttatccaacaattggaaggtgcttttgcacttgtgtttaaaagtgttcattttcccgggcaagcagttggcacaaggcgaggtagccctctgttgattggtgtacggagtgaacataaactttctactgatcacattcctatactctacagaacagctaggactcagattggatcaaaattcacacggtggggatcacagggagaaagaggcaaagacaagaaaggaagctgcaatctctctcgtgtggacagcacaacctgccttttcccggtggaagaaaaagcagtggagtattactttgcttctgatgcaagtgctgtcatagaacacaccaatcgcgtcatctttctggaagatgatgatgttgcagcagtagtggatggacgtctttctatccatcgaattaaacgaactgcaggagatcaccccggacgagctgtgcaaacactccagatggaactccagcagatcatgaagggcaacttcagttcatttatgcagaaggaaatatttgagcagccagagtctgtcgtgaacacaatgagaggaagagtcaactttgatgactatactgtgaatttgggtggtttgaaggatcacataaaggagatccagagatgccggcgtttgattcttattgcttgtggaacaagttaccatgctggtgtagcaacacgtcaagttcttgaggagctgactgagttgcctgtgatggtggaactagcaagtgacttcctggacagaaacacaccagtctttcgagatgatgtttgctttttccttagtcaatcaggtgagacagcagatactttgatgggtcttcgttactgtaaggagagaggagctttaactgtggggatcacaaacacagttggcagttccatatcacgggagacagattgtggagttcatattaatgctggtcctgagattggtgtggccagtacaaaggcttataccagccagtttgtatcccttgtgatgtttgcccttatgatgtgtgatgatcggatctccatgcaagaaagacgcaaagagatcatgcttggattgaaacggctgcctgatttgattaaggaagtactgagcatggatgacgaaattcagaaactagcaacagaactttatcatcagaagtcagttctgataatgggacgaggctatcattatgctacttgtcttgaaggggcactgaaaatcaaagaaattacttatatgcactctgaaggcatccttgctggtgaattgaaacatggccctctggctttggtggataaattgatgcctgtgatcatgatcatcatgagagatcacacttatgccaagtgtcagaatgctcttcagcaagtggttgctcggcaggggcggcctgtggtaatttgtgataaggaggatactgagaccattaagaacacaaaaagaacgatcaaggtgccccactcagtggactgcttgcagggcattctcagcgtgatccctttacagttgctggctttccaccttgctgtgctgagaggctatgatgttgatttcccacggaatcttgccaaatctgtgactgtagagtgaggaatatctatacaaaatgtacgaaactgtatgattaagcaacacaagacaccttttgtatttaaaaccttgatttaaaatatcaccccttgaagcctttttttagtaaatccttatttatatatcagttataattattccactcaatatgtgatttttgtgaagttacctcttacattttcccagtaatttgtggaggactttgaataatggaatctatattggaatctgtatcagaaagattctagctattattttctttaaagaatgctgggtgttgcatttctggaccctccacttcaatctgagaagacaatatgtttctaaaaattggtacttgtttcaccatacttcattcagaccagtgaaagagtagtgcatttaattggagtatctaaagccagtggcagtgtatgctcatacttggacagttagggaagggtttgccaagttttaagagaagatgtgatttattttgaaatttgtttctgttttgtttttaaatcaaactgtaaaacttaaaactgaaaaattttattggtaggatttatatctaagtttggttagccttagtttctcagacttgttgtctattatctgtaggtggaagaaatttaggaagcgaaatattacagtagtgcattggtgggtctcaatccttaacatatttgcacaattttatagcacaaactttaaattcaagctgctttggacaactgacaatatgattttaaatttgaagatgggatgtgtacatgttgggtatcctactactttgtgttttcatctcctaaaagtggtttttatttccttgtatctgtagtcttttattttttaaatgactgctgaatgacatattttatcttgttctttaaaatcacaacacagagctgctattaaattaatattgatatattcagtattctcttcaactttgtcacgaggaagaatttcctgtagttaattttaactttccttcattacattgttgcataaaactagtcccttagtgccagtttggaagttacttgcaattgtttggaagatttgcaggtcgctgacctcatcatttcactctaagtatatgtggtaggctaagctcagaaaaaggtatgtatgctttacactgataggcaccaaatttagtattgtatcctaagtatttttcctcttctgtattttctgtgctctacccctgaaatatatttaggaataaagaagatataaataaagtgatattggggtatgttcagcttgtaagtgtcagaaatggaagttgacaatttggattaaaatatttaaagtagaatgttattatttgatacccccaaaattgtgagtaataatttcttaatggagcttttctggccagatcttcagggctataggagagtgtgtttgtttttggtgaagtccttctttttcaaaggtttttacttttaaattgtgaagataagctatttagcacaattatttaagtaagctgttttttcctttcttttctttcttttcttgttttaacttctgggtgaggttaagattttctaatagttattgttgttgccagagaagcatagaattctgcttgtgtcttagggttagagaaagatttgttatattttgaggtaatttggaaggactttcatacatggtgactagaaacctgatctttttaagaataaaatagggtcactatttacattatatataatatatggctattatagctatattaatctactttaattgtttctaagattattttgtgtaagtcagctagcgtgtgtatagtgtcatttcttatgttttgtatattaacgttttacaaacacaatttgtgtgggtttgtagcatttcttatagtttaaagtatgattcagcattctaagttaaaactaatatgtgaagtcagtcattagtctgcataatctctgtctccctctgtgtgtgtctttctataaagcacatgtgtacacacacacacacaaatatactgaaagctagggtaagttctaaactgaatatcaaaaaccaaaatcaagaacaaagaagtgatattttccaaacaaacatggattctctgccgggtgcagtggctcagcctgtaataccagcctccactttgggagtctgaggtgggagtattgcttgagctcaagagttggagaacagcctgggcaacatggtgagacctggtctttacaaaaatttttttggccggacgcagtggctcacacctgtaatcccagcactttgggaggccgaggcaggttgatcatgaggtcaagagatcgagaccatcctggccaacatggtgaaaccccgtctttactaaaaatacaaaaattagctgggagtggtggcgtgcgcctgtagtcccaactacttgggaggctgaggcaggagaatcgcttgaacccaggaggcggaggttgcagtgaggcgagatcacgccactacactccagcctggcgacagagcaagactctctcaaaaaaaaaaaaaaaaaattttttttttaaatgggctgggcatggtggcttgtgcctgtagtctcagcaacttgggaggcttaagtagtaggatcgcttgagcctgggaggttgaggctgcagtgagctgtgattgtgccactgtgcttcagcttgagtgacagagtgagaccctcctgactcaaaacaaaaaacatggtttctcctctctctcctgtcttcttactctctatcccatttgatgtagtgatttttaaatgcttttgtaagttaattcttaacacaaaagagacattgtaatgaggcacaccactaaagtgagcatgcccaattaaaaccagtgtaatataggataagaaaatctgatttttcaaaaaagatactctacataaagaatccttcatataaaaagttctttcttgtagtacatttaaagttttaattcactcatgtataactgagagttcctttgagccctttttaggcagggaggcatgtctgtcatctagcgtgtggcccagtaagtgattattacattggaatcagtttttcagtcttttaaaataaattctgtgccataagaataaaagataaagagaaaaattaatgttaactatttttagcttattataactatgtcaacaagtgtttattaatacctattatgggaaagtcactgtggttggcattgaaaattacatcatctttaaagcagtatttgtccccagatggactcatcactagcaaagactaggttcattggaaggcatagggtgagagaatgggaagatgaagtggaggcgggttgttaaagtgctgtcagtgagtgattttgtctacttgaataatggtccatgtttgggggcatattgtgtttcataagaagtgaaaggtatttgcaaagtaagctacaaatgacccataaatctgttaacaacagtccttaatatgcaaagatgaaaaacaagcattactgctacccaaagggaactggtgcttggtgatgtgcagatggggctgttggttaagagagctattacaggttttctctcttaggtttcataggaggtagttactgagatgagattgttttatctttttgaatacagatctcttgtcttgagttagttctgaggatgggagtaataaaggagttttttgtttttttgtttgtttgtttgttttggctccttagtaatactcctctgacatttatttctattattcttcaaagaaaggaaaccaactgaaatgtttgctttaacaaacattttaataagttctctgggtttttttttccccttttaaaaaaattagcatataccatagcaataaaagaactaatgttaactattgtatgctacaacttaagtgatttttctaaagaagcacaatgtcattgaaagtattattgaaaaggatcatagtcacattgaatttgtgaaggccaaagaaattgaagggagtgatattttcattttatgatattcacatatttagtaaattttgtgtacaagaataccaggcagagtgttttacccatggaaacaggtttcagattactttatttttactgttagagtctcaagtttagaaatgctaacacttaaatcagtttttttctcactatacttgaagattgttaatattttgatatcttcctagcttgatgaatttaaacatatcttcagatctgtgacagtgacagccaataggactgataatattagcttcaaaccaataatatccagggttaaaataaaaatcatagtgaaagtacgattgtaaaattatgctatattaacttttaagtctgtaataacttgacatcaaaatgttatgtaattaccataaataatggctagcgagaacatctttggaaattctcaaattacctttcttactacactgtttgcagaatgaatgtagaaatgatcctgttagctttctgaatgttctgtggttgaatgtgtttttgcttaaataaagcttttggtatttgtttaaattacacttcttgagaagtggaaattttaggatcatctttgctttgtttcagttttgtgatttttgaaatgaatgtttagtttactgagccagttggtcatttcttcctcatgtcgttaagtccagtgagtaagcctgaactgtgaataaattaccaaaaacttgcttagaatttcattttgaagcaatttgctaatatttgaagtgtatacacatttgtagttatgttagaaattgtattgtactaagaatgtaatcaatgtctactttagttgtaaacatttctgatgtcaaaactttattcattactgttgattttaagaataagaaatcactgcctaaatattaccaaaagccactgtctctacccgaacttcccagtttgggaaagaatcgttagataaaacaaaggctctgccctttctgataccaaactccacagatactttctcacatcttttaaaacattttgcaataacatattgtttataggaagtttacggggtatgcaatgattaaaacttttaagtgaattgatagttgcaaaagaaaggataatatttaaggtcagtgagtagcaagacaatctaaagtttctgtaatatctggctctctgttaattatagagcaaagtttcccttacagaatccttttatgaacagcaagctagagtctatccctagtggttatagcacctgctgcgtttttcaggagacagttaggccagggtgatttgaatggatagatgtgctgttttgcctgcttgtagaattcagcccagtctttggtctctctctctctctccctcctccacctctccctctctcttcttctgcaccagagcctaaggctgcgccaccaagatgcgtcattttttccagaggcttcttttttttttttttgagatggagttttgctctgttgcccaggctggcatgcagtgctgcaatcttggctgactgcaacttccacctcccgtgttcacacgagtcttttgcctcagcctctggattagctgggattacaggcacgtgccaccatgcctagctaatttttgtgtttttagtagagacggggtttcaccatgttggccaggctagtctcaaactcctgaccttaagtgatctgcccgccttggcctcccaaagtgctgggattacaggcatgagtcaccgtgtcctgcccagacatatcaaatttgacaggtattgtataccctttggatctttaggaattaatttttgcctctgtcactcagctttgtatattttgaaatggagataagtatagggaggtcttggaaggaaaattgccagaattcccaaaccatgtaacactcattgagaattccagatccattatatctaaagggcaagtgaaggaaacagtattgtgaactgggtataactccttggttcttaactagtacattcttaatctgtgagacccaaaggttgataaacaataatttaagattgtacagtactctaaacgtctgcaaaggtctagatgttatcagtatcactagtttttatttctgccagtagctcccttttaggttacattgttgtcctctttccagtgtcgcatctgtcattggtttttcactatggcaagttcattaaaaagcttgctccattgttatcttcaagtaatgcccataaggagatggaagatatctgagacaattaaggctttagcttctaggcaagagaaataacgttgcattaaatttcaagtttctttctgctagacttgaatgtgtctagccactctaatttatgggggcttttggttttttcctattgtactttgtatgtagaattgttttgaaatatcaagcatatttactttgaatttgaactctttcttaattttgtatttatcctttgaataaaatgtaaatccaatatttattatt
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:2673 -> Molecular function: GO:0004360 [glutamine-fructose-6-phosphate transaminase (isomerizing) activity] evidence: IEA
GeneID:2673 -> Molecular function: GO:0016597 [amino acid binding] evidence: IEA
GeneID:2673 -> Molecular function: GO:0030246 [carbohydrate binding] evidence: IEA
GeneID:2673 -> Biological process: GO:0006002 [fructose 6-phosphate metabolic process] evidence: IEA
GeneID:2673 -> Biological process: GO:0006042 [glucosamine biosynthetic process] evidence: IEA
GeneID:2673 -> Biological process: GO:0006048 [UDP-N-acetylglucosamine biosynthetic process] evidence: IEA
GeneID:2673 -> Biological process: GO:0006048 [UDP-N-acetylglucosamine biosynthetic process] evidence: TAS
GeneID:2673 -> Biological process: GO:0006112 [energy reserve metabolic process] evidence: TAS
GeneID:2673 -> Biological process: GO:0006488 [dolichol-linked oligosaccharide biosynthetic process] evidence: TAS
GeneID:2673 -> Biological process: GO:0006541 [glutamine metabolic process] evidence: IEA
GeneID:2673 -> Biological process: GO:0006987 [activation of signaling protein activity involved in unfolded protein response] evidence: TAS
GeneID:2673 -> Biological process: GO:0009744 [response to sucrose stimulus] evidence: IEA
GeneID:2673 -> Biological process: GO:0016051 [carbohydrate biosynthetic process] evidence: IEA
GeneID:2673 -> Biological process: GO:0018279 [protein N-linked glycosylation via asparagine] evidence: TAS
GeneID:2673 -> Biological process: GO:0030968 [endoplasmic reticulum unfolded protein response] evidence: TAS
GeneID:2673 -> Biological process: GO:0032869 [cellular response to insulin stimulus] evidence: IEA
GeneID:2673 -> Biological process: GO:0043687 [post-translational protein modification] evidence: TAS
GeneID:2673 -> Biological process: GO:0044267 [cellular protein metabolic process] evidence: TAS
GeneID:2673 -> Biological process: GO:0045719 [negative regulation of glycogen biosynthetic process] evidence: IEA
GeneID:2673 -> Biological process: GO:0051289 [protein homotetramerization] evidence: IEA
GeneID:2673 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001231639 -> EC 2.6.1.16
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