LOCUS       NM_005110               3034 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2),
            mRNA.
ACCESSION   NM_005110
VERSION     NM_005110.4
KEYWORDS    RefSeq; MANE Select.
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 3034)
  AUTHORS   Wei,J., Zhou,S., Chen,G., Chen,T., Wang,Y., Zou,J., Zhou,F., Liu,J.
            and Gong,Q.
  TITLE     GFPT2: A novel biomarker in mesothelioma for diagnosis and
            prognosis and its molecular mechanism in malignant progression
  JOURNAL   Br J Cancer 131 (9), 1529-1542 (2024)
   PUBMED   39317702
  REMARK    GeneRIF: GFPT2: A novel biomarker in mesothelioma for diagnosis and
            prognosis and its molecular mechanism in malignant progression.
REFERENCE   2  (bases 1 to 3034)
  AUTHORS   Hatori,A., Fujii,Y., Kawase-Koga,Y., Ogasawara,T., Chikira,J.,
            Minami,S., Yamakawa,D. and Chikazu,D.
  TITLE     VCAM-1 and GFPT-2: Predictive markers of osteoblast differentiation
            in human dental pulp stem cells
  JOURNAL   Bone 166, 116575 (2023)
   PUBMED   36195245
  REMARK    GeneRIF: VCAM-1 and GFPT-2: Predictive markers of osteoblast
            differentiation in human dental pulp stem cells.
REFERENCE   3  (bases 1 to 3034)
  AUTHORS   Kroef,V., Ruegenberg,S., Horn,M., Allmeroth,K., Ebert,L.,
            Bozkus,S., Miethe,S., Elling,U., Schermer,B., Baumann,U. and
            Denzel,M.S.
  TITLE     GFPT2/GFAT2 and AMDHD2 act in tandem to control the hexosamine
            pathway
  JOURNAL   Elife 11, e69223 (2022)
   PUBMED   35229715
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3034)
  AUTHORS   Wang,Q., Karvelsson,S.T., Kotronoulas,A., Gudjonsson,T.,
            Halldorsson,S. and Rolfsson,O.
  TITLE     Glutamine-Fructose-6-Phosphate Transaminase 2 (GFPT2) Is
            Upregulated in Breast Epithelial-Mesenchymal Transition and
            Responds to Oxidative Stress
  JOURNAL   Mol Cell Proteomics 21 (2), 100185 (2022)
   PUBMED   34923141
  REMARK    GeneRIF: Glutamine-Fructose-6-Phosphate Transaminase 2 (GFPT2) Is
            Upregulated in Breast Epithelial-Mesenchymal Transition and
            Responds to Oxidative Stress.
REFERENCE   5  (bases 1 to 3034)
  AUTHORS   Nabeebaccus,A.A., Verma,S., Zoccarato,A., Emanuelli,G.,
            Santos,C.X., Streckfuss-Bomeke,K. and Shah,A.M.
  TITLE     Cardiomyocyte protein O-GlcNAcylation is regulated by GFAT1 not
            GFAT2
  JOURNAL   Biochem Biophys Res Commun 583, 121-127 (2021)
   PUBMED   34735873
  REMARK    GeneRIF: Cardiomyocyte protein O-GlcNAcylation is regulated by
            GFAT1 not GFAT2.
REFERENCE   6  (bases 1 to 3034)
  AUTHORS   Prasad,P., Tiwari,A.K., Kumar,K.M., Ammini,A.C., Gupta,A., Gupta,R.
            and Thelma,B.K.
  TITLE     Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2 and PAI-1 gene
            polymorphisms with chronic renal insufficiency among Asian Indians
            with type-2 diabetes
  JOURNAL   BMC Med Genet 11, 52 (2010)
   PUBMED   20353610
  REMARK    GeneRIF: association of nine single nucleotide polymorphisms in
            ADPRT1, AKR1B1), RAGE, GFPT2 and PAI-1 genes with chronic renal
            insufficiency among Asian Indians with type 2 diabetes
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3034)
  AUTHORS   Srinivasan,V., Sandhya,N., Sampathkumar,R., Farooq,S., Mohan,V. and
            Balasubramanyam,M.
  TITLE     Glutamine fructose-6-phosphate amidotransferase (GFAT) gene
            expression and activity in patients with type 2 diabetes:
            inter-relationships with hyperglycaemia and oxidative stress
  JOURNAL   Clin Biochem 40 (13-14), 952-957 (2007)
   PUBMED   17574229
  REMARK    GeneRIF: Increased GFAT activity appears to be associated with
            insulin resistance, postprandial hyperglycaemia and oxidative
            stress in T2DM and may point towards a potential pathway amenable
            for therapeutic intervention.
REFERENCE   8  (bases 1 to 3034)
  AUTHORS   Yang,C.T., Hindes,A.E., Hultman,K.A. and Johnson,S.L.
  TITLE     Mutations in gfpt1 and skiv2l2 cause distinct stage-specific
            defects in larval melanocyte regeneration in zebrafish
  JOURNAL   PLoS Genet 3 (6), e88 (2007)
   PUBMED   17542649
REFERENCE   9  (bases 1 to 3034)
  AUTHORS   Zhang,H., Jia,Y., Cooper,J.J., Hale,T., Zhang,Z. and Elbein,S.C.
  TITLE     Common variants in glutamine:fructose-6-phosphate amidotransferase
            2 (GFPT2) gene are associated with type 2 diabetes, diabetic
            nephropathy, and increased GFPT2 mRNA levels
  JOURNAL   J Clin Endocrinol Metab 89 (2), 748-755 (2004)
   PUBMED   14764791
  REMARK    GeneRIF: GFPT2 mRNA levels in transformed lymphocytes significantly
            increased among African-Americans. Associated allele of 3' UTR SNP
            approximately 2-fold overexpressed. 3' UTR variant results in
            increased GFPT2 mRNA with resultant increased hexosamine flux.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 3034)
  AUTHORS   Oki,T., Yamazaki,K., Kuromitsu,J., Okada,M. and Tanaka,I.
  TITLE     cDNA cloning and mapping of a novel subtype of
            glutamine:fructose-6-phosphate amidotransferase (GFAT2) in human
            and mouse
  JOURNAL   Genomics 57 (2), 227-234 (1999)
   PUBMED   10198162
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI753491.1, AB016789.1, AK022507.1 and BC000012.2.
            
            On Nov 23, 2018 this sequence version replaced NM_005110.3.
            
            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 :: AK022507.1, SRR1803616.184569.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000253778.13/ ENSP00000253778.8
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                BI753491.1         51-71
            22-2957             AB016789.1         2-2937
            2958-2958           AK022507.1         2949-2949
            2959-3032           AB016789.1         2939-3012
            3033-3034           BC000012.2         3022-3023
FEATURES             Location/Qualifiers
     source          1..3034
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     gene            1..3034
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /note="glutamine-fructose-6-phosphate transaminase 2"
                     /db_xref="GeneID:9945"
                     /db_xref="HGNC:HGNC:4242"
                     /db_xref="MIM:603865"
     exon            1..126
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             120..2168
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /EC_number="2.6.1.16"
                     /note="glutamine: fructose-6-phosphate aminotransferase 2;
                     glucosamine--fructose-6-phosphate aminotransferase
                     [isomerizing] 2; hexosephosphate aminotransferase 2;
                     D-fructose-6-phosphate amidotransferase 2;
                     glutamine:fructose-6-phosphate amidotransferase 2"
                     /codon_start=1
                     /product="glutamine--fructose-6-phosphate aminotransferase
                     [isomerizing] 2"
                     /protein_id="NP_005101.1"
                     /db_xref="CCDS:CCDS43411.1"
                     /db_xref="GeneID:9945"
                     /db_xref="HGNC:HGNC:4242"
                     /db_xref="MIM:603865"
                     /translation="MCGIFAYMNYRVPRTRKEIFETLIKGLQRLEYRGYDSAGVAIDG
                     NNHEVKERHIQLVKKRGKVKALDEELYKQDSMDLKVEFETHFGIAHTRWATHGVPSAV
                     NSHPQRSDKGNEFVVIHNGIITNYKDLRKFLESKGYEFESETDTETIAKLIKYVFDNR
                     ETEDITFSTLVERVIQQLEGAFALVFKSVHYPGEAVATRRGSPLLIGVRSKYKLSTEQ
                     IPILYRTCTLENVKNICKTRMKRLDSSACLHAVGDKAVEFFFASDASAIIEHTNRVIF
                     LEDDDIAAVADGKLSIHRVKRSASDDPSRAIQTLQMELQQIMKGNFSAFMQKEIFEQP
                     ESVFNTMRGRVNFETNTVLLGGLKDHLKEIRRCRRLIVIGCGTSYHAAVATRQVLEEL
                     TELPVMVELASDFLDRNTPVFRDDVCFFISQSGETADTLLALRYCKDRGALTVGVTNT
                     VGSSISRETDCGVHINAGPEIGVASTKAYTSQFISLVMFGLMMSEDRISLQNRRQEII
                     RGLRSLPELIKEVLSLEEKIHDLALELYTQRSLLVMGRGYNYATCLEGALKIKEITYM
                     HSEGILAGELKHGPLALIDKQMPVIMVIMKDPCFAKCQNALQQVTARQGRPIILCSKD
                     DTESSKFAYKTIELPHTVDCLQGILSVIPLQLLSFHLAVLRGYDVDFPRNLAKSVTVE
                     "
     exon            127..234
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            235..333
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            334..459
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            460..518
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            519..653
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            654..715
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            716..795
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            796..913
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            914..1077
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1078..1173
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1174..1271
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..1392
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1393..1550
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1551..1665
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1666..1793
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1794..1961
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1962..2123
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            2124..3034
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3015..3020
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /note="hexamer: AATAAA"
     polyA_site      3034
                     /gene="GFPT2"
                     /gene_synonym="GFAT; GFAT 2; GFAT2"
                     /note="major polyA site"
ORIGIN      
        1 agctggagcc cgcggagccc acggagccca cggagcccac ggaggagccc acggaggagc
       61 cccagcgtcc gaacgggcag accccctcga gccgcgaagg agcccgagaa gcagccacga
      121 tgtgcggaat ctttgcctac atgaactaca gagtcccccg gacgaggaag gagatcttcg
      181 aaaccctcat caagggcctg cagcggctgg agtacagagg ctacgactcg gcaggtgtgg
      241 cgatcgatgg gaataatcac gaagtcaaag aaagacacat tcagctggtc aagaaaaggg
      301 ggaaagtcaa ggctctcgat gaagaacttt acaaacaaga cagcatggac ttaaaagtgg
      361 agtttgagac acacttcggc attgcccaca cgcgctgggc cacccacggg gtccccagtg
      421 ctgtcaacag ccaccctcag cgctcagaca aaggcaacga atttgttgtc atccacaatg
      481 ggatcatcac aaattacaaa gatctgagga aatttctgga aagcaaaggc tacgagtttg
      541 agtcagaaac agatacagag accatcgcca agctgattaa atatgtgttc gacaacagag
      601 aaactgagga cattacgttt tcaacgttgg tcgagagagt cattcagcag ttggaaggtg
      661 cattcgcgct ggttttcaag agtgtccact acccaggaga agccgttgcc acacggagag
      721 gcagccccct gctcatcgga gtccggagca aatacaagct ctccacagaa cagatcccta
      781 tcttatacag gacgtgcact ctggagaatg tgaagaatat ctgtaagaca cggatgaaga
      841 ggctggacag ctccgcctgc ctgcatgctg tgggcgacaa ggccgtggaa ttcttctttg
      901 cttctgatgc aagcgctatc atagagcaca ccaaccgggt catcttcctg gaggacgatg
      961 acatcgccgc agtggctgat gggaaactct ccattcaccg ggtcaagcgc tcggccagtg
     1021 atgacccatc tcgagccatc cagaccttgc agatggaact gcagcaaatc atgaaaggta
     1081 acttcagtgc gtttatgcag aaggagatct tcgaacagcc agaatcagtt ttcaatacta
     1141 tgagaggtcg ggtgaatttt gaaaccaaca cagtgctcct gggtggcttg aaggaccact
     1201 tgaaggagat tcgacgatgc cgacggctca tcgtgattgg ctgtggaacc agctaccacg
     1261 ctgccgtggc tacgcggcaa gttttggagg aactgactga gcttcctgtg atggttgaac
     1321 ttgctagtga ttttctggac aggaacacac ctgtgttcag ggatgacgtt tgctttttca
     1381 tcagccagtc aggcgagacc gcggacaccc tcctggcgct gcgctactgt aaggaccgcg
     1441 gcgctctcac cgtgggcgtc accaacaccg tgggcagctc catctctcgc gagaccgact
     1501 gcggcgtcca catcaacgca gggccggaga tcggcgtggc cagcaccaag gcttatacca
     1561 gtcagttcat ctctctggtg atgtttggtt tgatgatgtc tgaagaccga atttcactac
     1621 aaaacaggag gcaagagatc atccgtggct tgagatcttt acctgagctg atcaaggaag
     1681 tgctgtctct ggaggagaag atccacgact tggccctgga gctctacacg cagagatcgc
     1741 tgctggtgat ggggcggggc tacaactatg ccacctgcct ggaaggagcc ctgaaaatta
     1801 aagagataac ctacatgcac tcagaaggca tcctggctgg ggagctgaag cacgggcccc
     1861 tggcactgat tgacaagcag atgcccgtca tcatggtcat tatgaaggat ccttgcttcg
     1921 ccaaatgcca gaacgccctg cagcaagtca cggcccgcca gggtcgcccc attatactgt
     1981 gctccaagga cgatactgaa agttccaagt ttgcgtataa gacaattgag ctgccccaca
     2041 ctgtggactg cctccagggc atcctgagcg tgattccgct gcagctgctg tccttccacc
     2101 tggctgttct ccgaggatat gacgttgact tccccagaaa tctggccaag tctgtaactg
     2161 tggaatgagg ctgagaccgt gacaagacca tcaccacctt tcatctgatt ccagacctgt
     2221 cccaacagca gggatgctac atgggaagag aagtggacat cccacatgtt ctgcgtgctc
     2281 ctgtagagct tgacagcttc cacgtgcctt ctacccaagt gcttttgctt acagcagata
     2341 ctgtttctct gtgtcctgaa gtcgccagag gagaagggaa tcattgttta cacatgggga
     2401 tcagagcaga cttctccact actgtgcaat agagatacag ctctcttcag agtaactgtg
     2461 aaccttttat aaccaacact agagttagtt ttaaaagaca agatatttat aatgacgact
     2521 gtatagcttt taagttattt ttctagtatg tggctttctg tagccgtggt aacggccaaa
     2581 ctgttcatcc tagctaccca tgctctgtgt ccaggcttgc tcctggcagg tggcattcat
     2641 ctcagatgtg agcacaaggc attggccctc tggactcctt tctccttttc tttcctctct
     2701 aggctgctcc tgaatcctgt tctctgacat ccgtggagcc cctcctgcat ccacctatgc
     2761 ctcctataag tccagttgaa atctcagcct ccttcaacat tttcttctcg tgtgtggccc
     2821 acatccctcc acttctccaa cttctgttta atctgatcac ggctcttttt aagccctggc
     2881 agcattttgg tccctgctcc ttgcccatag taaaacagct tgaaatatcc catgcaagag
     2941 agtagtttca agtgggcaac tctgctctct atttaaaagc gtgcacaatc aaaagtacta
     3001 tgcaatttta ggacaataaa gaacatacag tttt
//
