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2024-04-20 22:17:08, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_002056               8649 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens glutamine--fructose-6-phosphate transaminase 1
            (GFPT1), transcript variant 2, mRNA.
ACCESSION   NM_002056
VERSION     NM_002056.3  GI:347659026
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 8649)
  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 8649)
  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 8649)
  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 8649)
  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 8649)
  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 8649)
  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 8649)
  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 8649)
  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 8649)
  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 8649)
  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, M90516.1 and
            AC114772.5.
            On Sep 24, 2011 this sequence version replaced gi:205277385.
            
            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 (2) lacks an alternate exon in the
            coding region, compared to variant 1. The resulting protein
            (isoform 2) is shorter when it is compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            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##
            Transcript exon combination :: BC045641.1, M90516.1 [ECO:0000332]
            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
            533-3028            M90516.1           472-2967
            3029-8649           AC114772.5         13797-19417         c
FEATURES             Location/Qualifiers
     source          1..8649
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13"
     gene            1..8649
                     /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..2229
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /EC_number="2.6.1.16"
                     /note="isoform 2 is encoded by transcript variant 2;
                     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 2"
                     /protein_id="NP_002047.2"
                     /db_xref="GI:205277386"
                     /db_xref="CCDS:CCDS33216.1"
                     /db_xref="GeneID:2673"
                     /db_xref="HGNC:4241"
                     /db_xref="MIM:138292"
                     /translation="
MCGIFAYLNYHVPRTRREILETLIKGLQRLEYRGYDSAGVGFDGGNDKDWEANACKIQLIKKKGKVKALDEEVHKQQDMDLDIEFDVHLGIAHTRWATHGEPSPVNSHPQRSDKNNEFIVIHNGIITNYKDLKKFLESKGYDFESETDTETIAKLVKYMYDNRESQDTSFTTLVERVIQQLEGAFALVFKSVHFPGQAVGTRRGSPLLIGVRSEHKLSTDHIPILYRTGKDKKGSCNLSRVDSTTCLFPVEEKAVEYYFASDASAVIEHTNRVIFLEDDDVAAVVDGRLSIHRIKRTAGDHPGRAVQTLQMELQQIMKGNFSSFMQKEIFEQPESVVNTMRGRVNFDDYTVNLGGLKDHIKEIQRCRRLILIACGTSYHAGVATRQVLEELTELPVMVELASDFLDRNTPVFRDDVCFFLSQSGETADTLMGLRYCKERGALTVGITNTVGSSISRETDCGVHINAGPEIGVASTKAYTSQFVSLVMFALMMCDDRISMQERRKEIMLGLKRLPDLIKEVLSMDDEIQKLATELYHQKSVLIMGRGYHYATCLEGALKIKEITYMHSEGILAGELKHGPLALVDKLMPVIMIIMRDHTYAKCQNALQQVVARQGRPVVICDKEDTETIKNTKRTIKVPHSVDCLQGILSVIPLQLLAFHLAVLRGYDVDFPRNLAKSVTVE
"
     misc_feature    184..2226
                     /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..1035
                     /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    1285..1662
                     /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(1303..1308,1336..1341,1348..1353,1372..1374,
                     1378..1380,1390..1392,1399..1401,1465..1467)
                     /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(1309..1314,1444..1452)
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /note="active site"
                     /db_xref="CDD:88405"
     misc_feature    1756..2220
                     /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(1819..1821,1861..1863,1873..1875,1879..1881,
                     1885..1887,1891..1893,1903..1905,1909..1917,1921..1932,
                     1981..1986,1996..1998,2002..2007,2197..2202,2215..2217)
                     /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(1855..1857,1864..1866)
                     /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..974
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /inference="alignment:Splign:1.39.8"
     exon            975..1138
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /inference="alignment:Splign:1.39.8"
     exon            1139..1234
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /inference="alignment:Splign:1.39.8"
     exon            1235..1332
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /inference="alignment:Splign:1.39.8"
     exon            1333..1453
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /inference="alignment:Splign:1.39.8"
     exon            1454..1611
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /inference="alignment:Splign:1.39.8"
     exon            1612..1726
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /inference="alignment:Splign:1.39.8"
     exon            1727..1854
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /inference="alignment:Splign:1.39.8"
     exon            1855..2022
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /inference="alignment:Splign:1.39.8"
     exon            2023..2184
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /inference="alignment:Splign:1.39.8"
     exon            2185..8649
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /inference="alignment:Splign:1.39.8"
     STS             2296..3133
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /standard_name="GFPT1_3984"
                     /db_xref="UniSTS:463260"
     STS             2311..2523
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /standard_name="SHGC-31513"
                     /db_xref="UniSTS:18194"
     STS             2624..2815
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /standard_name="RH17749"
                     /db_xref="UniSTS:35429"
     variation       2773
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1803646"
     STS             3004..3132
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /standard_name="WI-13967"
                     /db_xref="UniSTS:6731"
     STS             3004..3125
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /standard_name="G59499"
                     /db_xref="UniSTS:136663"
     variation       3029
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:2667"
     variation       3398
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:3182038"
     STS             4551..4639
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /standard_name="D8S2279"
                     /db_xref="UniSTS:473907"
     variation       6282
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:4128250"
     STS             6627..6779
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /standard_name="RH94297"
                     /db_xref="UniSTS:91279"
     variation       6677
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:4493312"
     variation       7616
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200306923"
     variation       7992
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1044784"
     variation       8026
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1044785"
     STS             8259..8403
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /standard_name="RH99057"
                     /db_xref="UniSTS:88027"
     variation       8314
                     /gene="GFPT1"
                     /gene_synonym="CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m;
                     GFPT; GFPT1L; MSLG"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:7642"
ORIGIN      
ggttgctggcggagcccgggaggcggagaaggctgtcgttgccttggccgtcgcatccccgagggagtcgtgtcggcgccaccccggcccccgagcccgcagattgcccaccgaagctcgtgtgtgcacccccgatcccgccagccactcgcccctggcctcgcgggccgtgtctccggcatcatgtgtggtatatttgcttacttaaactaccatgttcctcgaacgagacgagaaatcctggagaccctaatcaaaggccttcagagactggagtacagaggatatgattctgctggtgtgggatttgatggaggcaatgataaagattgggaagccaatgcctgcaaaatccagcttattaagaagaaaggaaaagttaaggcactggatgaagaagttcacaagcaacaagatatggatttggatatagaatttgatgtacaccttggaatagctcatacccgttgggcaacacatggagaacccagtcctgtcaatagccacccccagcgctctgataaaaataatgaatttatcgttattcacaatggaatcatcaccaactacaaagacttgaaaaagtttttggaaagcaaaggctatgacttcgaatctgaaacagacacagagacaattgccaagctcgttaagtatatgtatgacaatcgggaaagtcaagataccagctttactaccttggtggagagagttatccaacaattggaaggtgcttttgcacttgtgtttaaaagtgttcattttcccgggcaagcagttggcacaaggcgaggtagccctctgttgattggtgtacggagtgaacataaactttctactgatcacattcctatactctacagaacaggcaaagacaagaaaggaagctgcaatctctctcgtgtggacagcacaacctgccttttcccggtggaagaaaaagcagtggagtattactttgcttctgatgcaagtgctgtcatagaacacaccaatcgcgtcatctttctggaagatgatgatgttgcagcagtagtggatggacgtctttctatccatcgaattaaacgaactgcaggagatcaccccggacgagctgtgcaaacactccagatggaactccagcagatcatgaagggcaacttcagttcatttatgcagaaggaaatatttgagcagccagagtctgtcgtgaacacaatgagaggaagagtcaactttgatgactatactgtgaatttgggtggtttgaaggatcacataaaggagatccagagatgccggcgtttgattcttattgcttgtggaacaagttaccatgctggtgtagcaacacgtcaagttcttgaggagctgactgagttgcctgtgatggtggaactagcaagtgacttcctggacagaaacacaccagtctttcgagatgatgtttgctttttccttagtcaatcaggtgagacagcagatactttgatgggtcttcgttactgtaaggagagaggagctttaactgtggggatcacaaacacagttggcagttccatatcacgggagacagattgtggagttcatattaatgctggtcctgagattggtgtggccagtacaaaggcttataccagccagtttgtatcccttgtgatgtttgcccttatgatgtgtgatgatcggatctccatgcaagaaagacgcaaagagatcatgcttggattgaaacggctgcctgatttgattaaggaagtactgagcatggatgacgaaattcagaaactagcaacagaactttatcatcagaagtcagttctgataatgggacgaggctatcattatgctacttgtcttgaaggggcactgaaaatcaaagaaattacttatatgcactctgaaggcatccttgctggtgaattgaaacatggccctctggctttggtggataaattgatgcctgtgatcatgatcatcatgagagatcacacttatgccaagtgtcagaatgctcttcagcaagtggttgctcggcaggggcggcctgtggtaatttgtgataaggaggatactgagaccattaagaacacaaaaagaacgatcaaggtgccccactcagtggactgcttgcagggcattctcagcgtgatccctttacagttgctggctttccaccttgctgtgctgagaggctatgatgttgatttcccacggaatcttgccaaatctgtgactgtagagtgaggaatatctatacaaaatgtacgaaactgtatgattaagcaacacaagacaccttttgtatttaaaaccttgatttaaaatatcaccccttgaagcctttttttagtaaatccttatttatatatcagttataattattccactcaatatgtgatttttgtgaagttacctcttacattttcccagtaatttgtggaggactttgaataatggaatctatattggaatctgtatcagaaagattctagctattattttctttaaagaatgctgggtgttgcatttctggaccctccacttcaatctgagaagacaatatgtttctaaaaattggtacttgtttcaccatacttcattcagaccagtgaaagagtagtgcatttaattggagtatctaaagccagtggcagtgtatgctcatacttggacagttagggaagggtttgccaagttttaagagaagatgtgatttattttgaaatttgtttctgttttgtttttaaatcaaactgtaaaacttaaaactgaaaaattttattggtaggatttatatctaagtttggttagccttagtttctcagacttgttgtctattatctgtaggtggaagaaatttaggaagcgaaatattacagtagtgcattggtgggtctcaatccttaacatatttgcacaattttatagcacaaactttaaattcaagctgctttggacaactgacaatatgattttaaatttgaagatgggatgtgtacatgttgggtatcctactactttgtgttttcatctcctaaaagtggtttttatttccttgtatctgtagtcttttattttttaaatgactgctgaatgacatattttatcttgttctttaaaatcacaacacagagctgctattaaattaatattgatatattcagtattctcttcaactttgtcacgaggaagaatttcctgtagttaattttaactttccttcattacattgttgcataaaactagtcccttagtgccagtttggaagttacttgcaattgtttggaagatttgcaggtcgctgacctcatcatttcactctaagtatatgtggtaggctaagctcagaaaaaggtatgtatgctttacactgataggcaccaaatttagtattgtatcctaagtatttttcctcttctgtattttctgtgctctacccctgaaatatatttaggaataaagaagatataaataaagtgatattggggtatgttcagcttgtaagtgtcagaaatggaagttgacaatttggattaaaatatttaaagtagaatgttattatttgatacccccaaaattgtgagtaataatttcttaatggagcttttctggccagatcttcagggctataggagagtgtgtttgtttttggtgaagtccttctttttcaaaggtttttacttttaaattgtgaagataagctatttagcacaattatttaagtaagctgttttttcctttcttttctttcttttcttgttttaacttctgggtgaggttaagattttctaatagttattgttgttgccagagaagcatagaattctgcttgtgtcttagggttagagaaagatttgttatattttgaggtaatttggaaggactttcatacatggtgactagaaacctgatctttttaagaataaaatagggtcactatttacattatatataatatatggctattatagctatattaatctactttaattgtttctaagattattttgtgtaagtcagctagcgtgtgtatagtgtcatttcttatgttttgtatattaacgttttacaaacacaatttgtgtgggtttgtagcatttcttatagtttaaagtatgattcagcattctaagttaaaactaatatgtgaagtcagtcattagtctgcataatctctgtctccctctgtgtgtgtctttctataaagcacatgtgtacacacacacacacaaatatactgaaagctagggtaagttctaaactgaatatcaaaaaccaaaatcaagaacaaagaagtgatattttccaaacaaacatggattctctgccgggtgcagtggctcagcctgtaataccagcctccactttgggagtctgaggtgggagtattgcttgagctcaagagttggagaacagcctgggcaacatggtgagacctggtctttacaaaaatttttttggccggacgcagtggctcacacctgtaatcccagcactttgggaggccgaggcaggttgatcatgaggtcaagagatcgagaccatcctggccaacatggtgaaaccccgtctttactaaaaatacaaaaattagctgggagtggtggcgtgcgcctgtagtcccaactacttgggaggctgaggcaggagaatcgcttgaacccaggaggcggaggttgcagtgaggcgagatcacgccactacactccagcctggcgacagagcaagactctctcaaaaaaaaaaaaaaaaaattttttttttaaatgggctgggcatggtggcttgtgcctgtagtctcagcaacttgggaggcttaagtagtaggatcgcttgagcctgggaggttgaggctgcagtgagctgtgattgtgccactgtgcttcagcttgagtgacagagtgagaccctcctgactcaaaacaaaaaacatggtttctcctctctctcctgtcttcttactctctatcccatttgatgtagtgatttttaaatgcttttgtaagttaattcttaacacaaaagagacattgtaatgaggcacaccactaaagtgagcatgcccaattaaaaccagtgtaatataggataagaaaatctgatttttcaaaaaagatactctacataaagaatccttcatataaaaagttctttcttgtagtacatttaaagttttaattcactcatgtataactgagagttcctttgagccctttttaggcagggaggcatgtctgtcatctagcgtgtggcccagtaagtgattattacattggaatcagtttttcagtcttttaaaataaattctgtgccataagaataaaagataaagagaaaaattaatgttaactatttttagcttattataactatgtcaacaagtgtttattaatacctattatgggaaagtcactgtggttggcattgaaaattacatcatctttaaagcagtatttgtccccagatggactcatcactagcaaagactaggttcattggaaggcatagggtgagagaatgggaagatgaagtggaggcgggttgttaaagtgctgtcagtgagtgattttgtctacttgaataatggtccatgtttgggggcatattgtgtttcataagaagtgaaaggtatttgcaaagtaagctacaaatgacccataaatctgttaacaacagtccttaatatgcaaagatgaaaaacaagcattactgctacccaaagggaactggtgcttggtgatgtgcagatggggctgttggttaagagagctattacaggttttctctcttaggtttcataggaggtagttactgagatgagattgttttatctttttgaatacagatctcttgtcttgagttagttctgaggatgggagtaataaaggagttttttgtttttttgtttgtttgtttgttttggctccttagtaatactcctctgacatttatttctattattcttcaaagaaaggaaaccaactgaaatgtttgctttaacaaacattttaataagttctctgggtttttttttccccttttaaaaaaattagcatataccatagcaataaaagaactaatgttaactattgtatgctacaacttaagtgatttttctaaagaagcacaatgtcattgaaagtattattgaaaaggatcatagtcacattgaatttgtgaaggccaaagaaattgaagggagtgatattttcattttatgatattcacatatttagtaaattttgtgtacaagaataccaggcagagtgttttacccatggaaacaggtttcagattactttatttttactgttagagtctcaagtttagaaatgctaacacttaaatcagtttttttctcactatacttgaagattgttaatattttgatatcttcctagcttgatgaatttaaacatatcttcagatctgtgacagtgacagccaataggactgataatattagcttcaaaccaataatatccagggttaaaataaaaatcatagtgaaagtacgattgtaaaattatgctatattaacttttaagtctgtaataacttgacatcaaaatgttatgtaattaccataaataatggctagcgagaacatctttggaaattctcaaattacctttcttactacactgtttgcagaatgaatgtagaaatgatcctgttagctttctgaatgttctgtggttgaatgtgtttttgcttaaataaagcttttggtatttgtttaaattacacttcttgagaagtggaaattttaggatcatctttgctttgtttcagttttgtgatttttgaaatgaatgtttagtttactgagccagttggtcatttcttcctcatgtcgttaagtccagtgagtaagcctgaactgtgaataaattaccaaaaacttgcttagaatttcattttgaagcaatttgctaatatttgaagtgtatacacatttgtagttatgttagaaattgtattgtactaagaatgtaatcaatgtctactttagttgtaaacatttctgatgtcaaaactttattcattactgttgattttaagaataagaaatcactgcctaaatattaccaaaagccactgtctctacccgaacttcccagtttgggaaagaatcgttagataaaacaaaggctctgccctttctgataccaaactccacagatactttctcacatcttttaaaacattttgcaataacatattgtttataggaagtttacggggtatgcaatgattaaaacttttaagtgaattgatagttgcaaaagaaaggataatatttaaggtcagtgagtagcaagacaatctaaagtttctgtaatatctggctctctgttaattatagagcaaagtttcccttacagaatccttttatgaacagcaagctagagtctatccctagtggttatagcacctgctgcgtttttcaggagacagttaggccagggtgatttgaatggatagatgtgctgttttgcctgcttgtagaattcagcccagtctttggtctctctctctctctccctcctccacctctccctctctcttcttctgcaccagagcctaaggctgcgccaccaagatgcgtcattttttccagaggcttcttttttttttttttgagatggagttttgctctgttgcccaggctggcatgcagtgctgcaatcttggctgactgcaacttccacctcccgtgttcacacgagtcttttgcctcagcctctggattagctgggattacaggcacgtgccaccatgcctagctaatttttgtgtttttagtagagacggggtttcaccatgttggccaggctagtctcaaactcctgaccttaagtgatctgcccgccttggcctcccaaagtgctgggattacaggcatgagtcaccgtgtcctgcccagacatatcaaatttgacaggtattgtataccctttggatctttaggaattaatttttgcctctgtcactcagctttgtatattttgaaatggagataagtatagggaggtcttggaaggaaaattgccagaattcccaaaccatgtaacactcattgagaattccagatccattatatctaaagggcaagtgaaggaaacagtattgtgaactgggtataactccttggttcttaactagtacattcttaatctgtgagacccaaaggttgataaacaataatttaagattgtacagtactctaaacgtctgcaaaggtctagatgttatcagtatcactagtttttatttctgccagtagctcccttttaggttacattgttgtcctctttccagtgtcgcatctgtcattggtttttcactatggcaagttcattaaaaagcttgctccattgttatcttcaagtaatgcccataaggagatggaagatatctgagacaattaaggctttagcttctaggcaagagaaataacgttgcattaaatttcaagtttctttctgctagacttgaatgtgtctagccactctaatttatgggggcttttggttttttcctattgtactttgtatgtagaattgttttgaaatatcaagcatatttactttgaatttgaactctttcttaattttgtatttatcctttgaataaaatgtaaatccaatatttattatt
//

Annotations:

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_002047 -> EC 2.6.1.16

by @meso_cacase at DBCLS
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