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måndag 26 november 2018

GNPDA1 (5q31.3), oskilliini, glcN6P deaminaasi 1

https://www.ncbi.nlm.nih.gov/gene/10007

GPI; HLN; GNP1; GNPI; GNPDA
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]

Preferred Names
glucosamine-6-phosphate isomerase 1
Names
GNPDA 1
glcN6P deaminase 1
oscillin

Related articles in PubMed

PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

peptidi rakenne, historia, struktuuri
Konservoitu domeeni
SugarP_isomerase: Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ribulose 5-phosphate, the first step of the non-oxidative branch of the pentose phosphate pathway. GlcN6P deaminase catalyzes the reversible conversion of GlcN6P to D-fructose-6-phosphate (Fru6P) and ammonium, the last step of the metabolic pathway of N-acetyl-D-glucosamine-6-phosphate. 6PGL converts 6-phosphoglucono-1,5-lactone to 6-phosphogluconate, the second step of the oxidative phase of the pentose phosphate pathway.

glucosamine-6-phosphate isomerase 1 [Homo sapiens]

NCBI Reference Sequence: NP_005462.1
LOCUS       NP_005462                289 aa            linear   PRI 22-NOV-2018
DEFINITION  glucosamine-6-phosphate isomerase 1 [Homo sapiens].
ACCESSION   NP_005462
VERSION     NP_005462.1
DBSOURCE    REFSEQ: accession NM_005471.5
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  (residues 1 to 289)
  AUTHORS   Oikari S, Makkonen K, Deen AJ, Tyni I, Karna R, Tammi RH and Tammi
            MI.
  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  (residues 1 to 289)
  AUTHORS   Alvarez-Anorve LI, Alonzo DA, Mora-Lugo R, Lara-Gonzalez S,
            Bustos-Jaimes I, Plumbridge J and Calcagno ML.
  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  (residues 1 to 289)
  AUTHORS   Gonzalez-Begne M, Lu B, Han X, Hagen FK, Hand AR, Melvin JE and
            Yates JR.
  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  (residues 1 to 289)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J. Am. Soc. Nephrol. 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   5  (residues 1 to 289)
  AUTHORS   Arreola R, Valderrama B, Morante ML 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  (residues 1 to 289)
  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  (residues 1 to 289)
  AUTHORS   Shevchenko V, Hogben M, Ekong R, Parrington J and Lai FA.
  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  (residues 1 to 289)
  AUTHORS   Wolosker H, Kline D, Bian Y, Blackshaw S, Cameron AM, Fralich TJ,
            Schnaar RL and Snyder SH.
  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  (residues 1 to 289)
  AUTHORS   Oliva G, Fontes MR, Garratt RC, Altamirano MM, Calcagno ML 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 (residues 1 to 289)
  AUTHORS   Weidanz JA, Campbell P, DeLucas LJ, Jin J, Moore D, Roden L, Yu H,
            Heilmann E and Vezza AC.
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..289
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     Protein         1..289
                     /product="glucosamine-6-phosphate isomerase 1"
                     /EC_number="3.5.99.6"
                     /note="oscillin; GNPDA 1; glcN6P deaminase 1"
                     /calculated_mol_wt=32537
     Region          1..253
                     /region_name="SugarP_isomerase"
                     /note="SugarP_isomerase: Sugar Phosphate Isomerase family;
                     includes type A ribose 5-phosphate isomerase (RPI_A),
                     glucosamine-6-phosphate (GlcN6P) deaminase, and
                     6-phosphogluconolactonase (6PGL). RPI catalyzes the
                     reversible conversion of ribose-5-phosphate to...;
                     cl00339"
                     /db_xref="CDD:320918"
     Site            order(41..44,71..72,137..138,143,145,172,208)
                     /site_type="active"
                     /db_xref="CDD:238693"
     Site            64
                     /site_type="other"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine. {ECO:0000244|PubMed:19608861};
                     propagated from UniProtKB/Swiss-Prot (P46926.1)"
     Site            order(150,152..153,161,216..222,230..232)
                     /site_type="other"
                     /note="trimer interface [polypeptide binding]"
                     /db_xref="CDD:238693"
     Site            order(151..152,158..161)
                     /site_type="other"
                     /note="allosteric site"
                     /db_xref="CDD:238693"
     Site            161
                     /site_type="other"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphothreonine. {ECO:0000250|UniProtKB:O88958};
                     propagated from UniProtKB/Swiss-Prot (P46926.1)"
     Site            order(163,166..176,180..182)
                     /site_type="active"
                     /note="active site lid [active]"
                     /db_xref="CDD:238693"
     Site            order(168,206,210,241,244..247)
                     /site_type="other"
                     /note="hexamer (dimer of trimers) interface [polypeptide
                     binding]"
                     /db_xref="CDD:238693"
     CDS             1..289
                     /gene="GNPDA1"
                     /gene_synonym="GNP1; GNPDA; GNPI; GPI; HLN"
                     /coded_by="NM_005471.5:40..909"
                     /db_xref="CCDS:CCDS4272.1"
                     /db_xref="GeneID:10007"
                     /db_xref="HGNC:HGNC:4417"
                     /db_xref="MIM:601798"
ORIGIN      
        1 mkliilehys qasewaakyi rnriiqfnpg pekyftlglp tgstplgcyk klieyykngd
       61 lsfkyvktfn mdeyvglprd hpesyhsfmw nnffkhidih penthildgn avdlqaecda
      121 feekikaagg ielfvggigp dghiafnepg sslvsrtrvk tlamdtilan arffdgeltk
      181 vptmaltvgv gtvmdarevm ilitgahkaf alykaieegv nhmwtvsafq qhprtvfvcd
      241 edatlelkvk tvkyfkglml vhnklvdply sikeketeks qsskkpysd
//
 

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