LOCUS       NM_005471               2267 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens glucosamine-6-phosphate deaminase 1 (GNPDA1), mRNA.
ACCESSION   NM_005471
VERSION     NM_005471.5
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 2267)
  AUTHORS   Oikari,S., Makkonen,K., Deen,A.J., Tyni,I., Karna,R., Tammi,R.H.
            and Tammi,M.I.
  TITLE     Hexosamine biosynthesis in keratinocytes: roles of GFAT and GNPDA
            enzymes in the maintenance of UDP-GlcNAc content and hyaluronan
            synthesis
  JOURNAL   Glycobiology 26 (7), 710-722 (2016)
   PUBMED   26887390
  REMARK    GeneRIF: GNPDA1 siRNA induced GFAT2 which was hardly measurable in
            these cells under standard culture conditions, GNPDA2 siRNA
            increased GFAT1, and GFAT1 siRNA increased the expression of
            hyaluronan synthase 2 (HAS2). Silencing of GFAT1 stimulated GNPDA1
            and GDPDA2, and inhibited cell migration.
REFERENCE   2  (bases 1 to 2267)
  AUTHORS   Alvarez-Anorve,L.I., Alonzo,D.A., Mora-Lugo,R., Lara-Gonzalez,S.,
            Bustos-Jaimes,I., Plumbridge,J. and Calcagno,M.L.
  TITLE     Allosteric kinetics of the isoform 1 of human
            glucosamine-6-phosphate deaminase
  JOURNAL   Biochim Biophys Acta 1814 (12), 1846-1853 (2011)
   PUBMED   21807125
  REMARK    GeneRIF: Allosteric kinetics of the isoform 1 of human
            glucosamine-6-phosphate deaminase.
REFERENCE   3  (bases 1 to 2267)
  AUTHORS   Gonzalez-Begne,M., Lu,B., Han,X., Hagen,F.K., Hand,A.R.,
            Melvin,J.E. and Yates,J.R.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   4  (bases 1 to 2267)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   5  (bases 1 to 2267)
  AUTHORS   Arreola,R., Valderrama,B., Morante,M.L. and Horjales,E.
  TITLE     Two mammalian glucosamine-6-phosphate deaminases: a structural and
            genetic study
  JOURNAL   FEBS Lett 551 (1-3), 63-70 (2003)
   PUBMED   12965206
  REMARK    GeneRIF: Sequence analysis and crystallographic structure of GNP1.
REFERENCE   6  (bases 1 to 2267)
  AUTHORS   Nakamura,Y., Miura,K., Fujino,Y., Iwao,H., Ogita,S. and Yamanaka,S.
  TITLE     Evolution, structure, and expression of GNPI/Oscillin orthologous
            genes
  JOURNAL   Genomics 68 (2), 179-186 (2000)
   PUBMED   10964516
REFERENCE   7  (bases 1 to 2267)
  AUTHORS   Shevchenko,V., Hogben,M., Ekong,R., Parrington,J. and Lai,F.A.
  TITLE     The human glucosamine-6-phosphate deaminase gene: cDNA cloning and
            expression, genomic organization and chromosomal localization
  JOURNAL   Gene 216 (1), 31-38 (1998)
   PUBMED   9714720
REFERENCE   8  (bases 1 to 2267)
  AUTHORS   Wolosker,H., Kline,D., Bian,Y., Blackshaw,S., Cameron,A.M.,
            Fralich,T.J., Schnaar,R.L. and Snyder,S.H.
  TITLE     Molecularly cloned mammalian glucosamine-6-phosphate deaminase
            localizes to transporting epithelium and lacks oscillin activity
  JOURNAL   FASEB J 12 (1), 91-99 (1998)
   PUBMED   9438414
REFERENCE   9  (bases 1 to 2267)
  AUTHORS   Oliva,G., Fontes,M.R., Garratt,R.C., Altamirano,M.M., Calcagno,M.L.
            and Horjales,E.
  TITLE     Structure and catalytic mechanism of glucosamine 6-phosphate
            deaminase from Escherichia coli at 2.1 A resolution
  JOURNAL   Structure 3 (12), 1323-1332 (1995)
   PUBMED   8747459
REFERENCE   10 (bases 1 to 2267)
  AUTHORS   Weidanz,J.A., Campbell,P., DeLucas,L.J., Jin,J., Moore,D.,
            Roden,L., Yu,H., Heilmann,E. and Vezza,A.C.
  TITLE     Glucosamine 6-phosphate deaminase in normal human erythrocytes
  JOURNAL   Br J Haematol 91 (1), 72-79 (1995)
   PUBMED   7577655
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC022322.1, AC005740.1 and CA432951.1.
            
            On Nov 22, 2018 this sequence version replaced NM_005471.4.
            
            Summary: Glucosamine-6-phosphate deaminase (EC 3.5.99.6) is an
            allosteric enzyme that catalyzes the reversible conversion of
            D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium
            (Arreola et al., 2003 [PubMed 12965206]).[supplied by OMIM, Jan
            2010].
            
            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 :: SRR3476690.856559.1,
                                           SRR1660805.207409.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311337.11/ ENSP00000311876.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1300              BC022322.1         1-1300
            1301-1789           AC005740.1         67162-67650
            1790-2267           CA432951.1         17-494              c
FEATURES             Location/Qualifiers
     source          1..2267
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     gene            1..2267
                     /gene="GNPDA1"
                     /gene_synonym="GNP1; GNPDA; GNPI; GPI; HLN"
                     /note="glucosamine-6-phosphate deaminase 1"
                     /db_xref="GeneID:10007"
                     /db_xref="HGNC:HGNC:4417"
                     /db_xref="MIM:601798"
     exon            1..33
                     /gene="GNPDA1"
                     /gene_synonym="GNP1; GNPDA; GNPI; GPI; HLN"
                     /inference="alignment:Splign:2.1.0"
     exon            34..163
                     /gene="GNPDA1"
                     /gene_synonym="GNP1; GNPDA; GNPI; GPI; HLN"
                     /inference="alignment:Splign:2.1.0"
     CDS             40..909
                     /gene="GNPDA1"
                     /gene_synonym="GNP1; GNPDA; GNPI; GPI; HLN"
                     /EC_number="3.5.99.6"
                     /note="oscillin; protein oscillin; glucosamine-6-phosphate
                     isomerase 1; GNPDA 1; glcN6P deaminase 1"
                     /codon_start=1
                     /product="glucosamine-6-phosphate deaminase 1"
                     /protein_id="NP_005462.1"
                     /db_xref="CCDS:CCDS4272.1"
                     /db_xref="GeneID:10007"
                     /db_xref="HGNC:HGNC:4417"
                     /db_xref="MIM:601798"
                     /translation="MKLIILEHYSQASEWAAKYIRNRIIQFNPGPEKYFTLGLPTGST
                     PLGCYKKLIEYYKNGDLSFKYVKTFNMDEYVGLPRDHPESYHSFMWNNFFKHIDIHPE
                     NTHILDGNAVDLQAECDAFEEKIKAAGGIELFVGGIGPDGHIAFNEPGSSLVSRTRVK
                     TLAMDTILANARFFDGELTKVPTMALTVGVGTVMDAREVMILITGAHKAFALYKAIEE
                     GVNHMWTVSAFQQHPRTVFVCDEDATLELKVKTVKYFKGLMLVHNKLVDPLYSIKEKE
                     TEKSQSSKKPYSD"
     exon            164..265
                     /gene="GNPDA1"
                     /gene_synonym="GNP1; GNPDA; GNPI; GPI; HLN"
                     /inference="alignment:Splign:2.1.0"
     exon            266..448
                     /gene="GNPDA1"
                     /gene_synonym="GNP1; GNPDA; GNPI; GPI; HLN"
                     /inference="alignment:Splign:2.1.0"
     exon            449..633
                     /gene="GNPDA1"
                     /gene_synonym="GNP1; GNPDA; GNPI; GPI; HLN"
                     /inference="alignment:Splign:2.1.0"
     exon            634..808
                     /gene="GNPDA1"
                     /gene_synonym="GNP1; GNPDA; GNPI; GPI; HLN"
                     /inference="alignment:Splign:2.1.0"
     exon            809..2267
                     /gene="GNPDA1"
                     /gene_synonym="GNP1; GNPDA; GNPI; GPI; HLN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2244..2249
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNPDA1"
                     /gene_synonym="GNP1; GNPDA; GNPI; GPI; HLN"
                     /note="hexamer: ATTAAA"
     polyA_site      2267
                     /gene="GNPDA1"
                     /gene_synonym="GNP1; GNPDA; GNPI; GPI; HLN"
                     /note="major polyA site"
ORIGIN      
        1 gcagtcgctg cagccgccgc gggaggcgtc cgtgacaaga tgaagctcat catcctggag
       61 cactattctc aggcgagcga gtgggcggct aaatacatca ggaaccgcat catccagttt
      121 aacccagggc cagagaagta cttcaccctg gggctcccca ctgggagtac cccacttggc
      181 tgctacaaga agctgattga atactataag aatggggacc tgtcctttaa atatgtgaag
      241 accttcaaca tggatgagta cgtgggcctt cctcgagacc acccggagag ttaccactcc
      301 ttcatgtgga acaacttctt caagcacatt gacatccacc cagaaaacac ccacattctg
      361 gatgggaatg cagtcgacct acaggcagaa tgtgatgcct ttgaagagaa gatcaaggct
      421 gcaggtggga tcgagctatt tgttggaggc atcggccctg atggacacat tgccttcaac
      481 gagccaggct ccagtctggt gtccaggacc cgtgtgaaga cgctggccat ggataccatc
      541 ctggccaatg ctaggttctt cgatggagaa ctcaccaagg tgcccaccat ggccttgacg
      601 gtgggggtgg gcactgtcat ggatgctaga gaggtgatga tccttatcac aggtgctcac
      661 aaggcatttg ctctgtacaa ggccatcgag gagggagtga accacatgtg gaccgtgtct
      721 gccttccagc agcatccccg caccgtgttt gtgtgtgacg aggatgccac cttggagctg
      781 aaagtgaaga ctgtcaagta tttcaaaggt ttaatgcttg ttcataacaa gttggtggac
      841 cccttgtaca gtatcaaaga gaaagaaact gagaaaagcc aatcttcgaa gaaaccatac
      901 agcgattagc ctgtgctggg acctagtgtc aagtacccat agggaaaggc aggtctttct
      961 ggaaattgtc tttagaagaa agaattgtat ttctttaatc tagtatggtt actccagata
     1021 agtgggtgaa cttattgttc ttggccatga ggctgggagc ctagtcacgg agtttagcta
     1081 tagggagaat gtttgtaact taatcagaaa aaaaatatct gcaaaatgta ctccatcatt
     1141 ttgatgtctg ccaaacccag gttgggagtt ttaaactttt tgttctgctt cagccatggt
     1201 tcacacatat gacacactcc cgtcaggaat ttctctcctt acacgcactg attttcaagt
     1261 gggagggaat taggggctta tgtatattgg ataccacctc tttgaagagt cttgagagtc
     1321 cttcttgcac aggcctgccc cttggttgag aaccattgtt ccaagtgaag gcacaaactc
     1381 tcaatatcta aaataagtgc aaggaagcag tctctttggt cagtaacaag tgcaatggaa
     1441 agaaaacgat cccttccttc ttccactttc acagcttttc tctgaactag gagaacctgg
     1501 gggtggattt gggtgggtgg ggccaaagag gaggcttcta ttgataaatc cagagcctca
     1561 aggggcccag ccacgtcaaa cttctctccc tcagggactc tccagcacca aaaggcagaa
     1621 ggtggaagcc gtttttcccc cagagccctg tgtttttgtg aaagcctcac tgtggctcct
     1681 ctgttttaca tactcattag taagtgggag gtccactggg gcaacagaca ctgccacaat
     1741 ttcagtgttg tgttcagcca aggggacggt ctgggcaggc agcttaagtg tgagtttagt
     1801 cacaactcct gagtgtcccg ctctcctgct tacctaggag gtgagtgcca ggaaaataca
     1861 ccaaatgctt ctagtattgt ttccccactt aaaatagtcc tgcttaaatt cacatggtgt
     1921 ggtctgatgt tctgagagca tcaggaaata caaccctttt gcccatttac ccttctcccc
     1981 ggatcccaag gtggtctgtt gctctggctt cctttcattg tcttaggcct tcatggagtg
     2041 gatgctgcct cctcctggct gtttttgtgc ctgtttgaag ctactgctgc ctccatttct
     2101 gggaaagacc tttgagagcc tagcccaggc ctaagggcta tgtttggtac cagtgttttg
     2161 tctttagctt ttctatgtga ttgtgccgtc attctgtttt aagctcatgg atcaatggat
     2221 ttgtttacaa tgtgatattt tctattaaat ccagtatttt caaataa
//
