LOCUS       NM_005476               5263 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens glucosamine
            (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE),
            transcript variant 2, mRNA.
ACCESSION   NM_005476
VERSION     NM_005476.7
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 5263)
  AUTHORS   Tong,Y., Tempel,W., Nedyalkova,L., Mackenzie,F. and Park,H.W.
  TITLE     Crystal structure of the N-acetylmannosamine kinase domain of GNE
  JOURNAL   PLoS One 4 (10), e7165 (2009)
   PUBMED   19841673
  REMARK    GeneRIF: the crystal structure of the kinase domain of GNE provides
            a structural basis for understanding disease-causing mutations and
            a model of hexameric wild type full length enzyme
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5263)
  AUTHORS   Reinke,S.O., Eidenschink,C., Jay,C.M. and Hinderlich,S.
  TITLE     Biochemical characterization of human and murine isoforms of
            UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
            (GNE)
  JOURNAL   Glycoconj J 26 (4), 415-422 (2009)
   PUBMED   18815882
  REMARK    GeneRIF: These data therefore suggest a role of GNE1 in basic
            supply of cells with sialic acids, whereas splice variants GNE2 and
            GNE3 may have a function in fine-tuning of the sialic acid pathway.
REFERENCE   3  (bases 1 to 5263)
  AUTHORS   Reinke,S.O. and Hinderlich,S.
  TITLE     Prediction of three different isoforms of the human
            UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
  JOURNAL   FEBS Lett 581 (17), 3327-3331 (2007)
   PUBMED   17597614
  REMARK    GeneRIF: Two novel isoforms of human GNE, namely GNE2 and GNE3,
            which possess extended and deleted N-termini, respectively, were
            characterized.
REFERENCE   4  (bases 1 to 5263)
  AUTHORS   Watts,G.D., Thorne,M., Kovach,M.J., Pestronk,A. and Kimonis,V.E.
  TITLE     Clinical and genetic heterogeneity in chromosome 9p associated
            hereditary inclusion body myopathy: exclusion of GNE and three
            other candidate genes
  JOURNAL   Neuromuscul Disord 13 (7-8), 559-567 (2003)
   PUBMED   12921793
  REMARK    GeneRIF: Expression studies indicate that GNE has a tissue-specific
            splice pattern, with four splice variants.
REFERENCE   5  (bases 1 to 5263)
  AUTHORS   Lucka,L., Krause,M., Danker,K., Reutter,W. and Horstkorte,R.
  TITLE     Primary structure and expression analysis of human
            UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase,
            the bifunctional enzyme in neuraminic acid biosynthesis
  JOURNAL   FEBS Lett 454 (3), 341-344 (1999)
   PUBMED   10431835
REFERENCE   6  (bases 1 to 5263)
  AUTHORS   Keppler,O.T., Hinderlich,S., Langner,J., Schwartz-Albiez,R.,
            Reutter,W. and Pawlita,M.
  TITLE     UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation
  JOURNAL   Science 284 (5418), 1372-1376 (1999)
   PUBMED   10334995
REFERENCE   7  (bases 1 to 5263)
  AUTHORS   Hinderlich,S., Stasche,R., Zeitler,R. and Reutter,W.
  TITLE     A bifunctional enzyme catalyzes the first two steps in
            N-acetylneuraminic acid biosynthesis of rat liver. Purification and
            characterization of UDP-N-acetylglucosamine
            2-epimerase/N-acetylmannosamine kinase
  JOURNAL   J Biol Chem 272 (39), 24313-24318 (1997)
   PUBMED   9305887
REFERENCE   8  (bases 1 to 5263)
  AUTHORS   Mitrani-Rosenbaum,S., Argov,Z., Blumenfeld,A., Seidman,C.E. and
            Seidman,J.G.
  TITLE     Hereditary inclusion body myopathy maps to chromosome 9p1-q1
  JOURNAL   Hum Mol Genet 5 (1), 159-163 (1996)
   PUBMED   8789455
REFERENCE   9  (bases 1 to 5263)
  AUTHORS   Carrillo,N., Malicdan,M.C. and Huizing,M.
  TITLE     GNE Myopathy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301439
REFERENCE   10 (bases 1 to 5263)
  AUTHORS   Leroy,J.G.
  TITLE     Sialuria - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301343
REFERENCE   11 (bases 1 to 5263)
  AUTHORS   Weiss,P., Tietze,F., Gahl,W.A., Seppala,R. and Ashwell,G.
  TITLE     Identification of the metabolic defect in sialuria
  JOURNAL   J Biol Chem 264 (30), 17635-17636 (1989)
   PUBMED   2808337
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP201585.1, BC121179.2,
            AL158830.17 and CA503236.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_005476.6.
            
            Summary: The protein encoded by this gene is a bifunctional enzyme
            that initiates and regulates the biosynthesis of N-acetylneuraminic
            acid (NeuAc), a precursor of sialic acids. It is a rate-limiting
            enzyme in the sialic acid biosynthetic pathway. Sialic acid
            modification of cell surface molecules is crucial for their
            function in many biologic processes, including cell adhesion and
            signal transduction. Differential sialylation of cell surface
            molecules is also implicated in the tumorigenicity and metastatic
            behavior of malignant cells. Mutations in this gene are associated
            with sialuria, autosomal recessive inclusion body myopathy, and
            Nonaka myopathy. Alternative splicing of this gene results in
            transcript variants encoding different isoforms. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: SRR1660809.150925.1,
                                           SRR1803617.222976.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642385.2/ ENSP00000494141.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-530               BP201585.1         52-581
            531-2508            BC121179.2         490-2467
            2509-4650           AL158830.17        116557-118698       c
            4651-5263           CA503236.1         16-628              c
FEATURES             Location/Qualifiers
     source          1..5263
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..5263
                     /gene="GNE"
                     /gene_synonym="DMRV; GLCNE; IBM2; NM; THC12; Uae1"
                     /note="glucosamine
                     (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase"
                     /db_xref="GeneID:10020"
                     /db_xref="HGNC:HGNC:23657"
                     /db_xref="MIM:603824"
     exon            1..128
                     /gene="GNE"
                     /gene_synonym="DMRV; GLCNE; IBM2; NM; THC12; Uae1"
                     /inference="alignment:Splign:2.1.0"
     exon            129..334
                     /gene="GNE"
                     /gene_synonym="DMRV; GLCNE; IBM2; NM; THC12; Uae1"
                     /inference="alignment:Splign:2.1.0"
     CDS             171..2339
                     /gene="GNE"
                     /gene_synonym="DMRV; GLCNE; IBM2; NM; THC12; Uae1"
                     /EC_number="2.7.1.60"
                     /EC_number="3.2.1.183"
                     /note="isoform 2 is encoded by transcript variant 2;
                     N-acylmannosamine kinase; bifunctional
                     UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine
                     kinase; UDP-GlcNAc-2-epimerase/ManAc kinase"
                     /codon_start=1
                     /product="bifunctional UDP-N-acetylglucosamine
                     2-epimerase/N-acetylmannosamine kinase isoform 2"
                     /protein_id="NP_005467.1"
                     /db_xref="CCDS:CCDS6602.1"
                     /db_xref="GeneID:10020"
                     /db_xref="HGNC:HGNC:23657"
                     /db_xref="MIM:603824"
                     /translation="MEKNGNNRKLRVCVATCNRADYSKLAPIMFGIKTEPEFFELDVV
                     VLGSHLIDDYGNTYRMIEQDDFDINTRLHTIVRGEDEAAMVESVGLALVKLPDVLNRL
                     KPDIMIVHGDRFDALALATSAALMNIRILHIEGGEVSGTIDDSIRHAITKLAHYHVCC
                     TRSAEQHLISMCEDHDRILLAGCPSYDKLLSAKNKDYMSIIRMWLGDDVKSKDYIVAL
                     QHPVTTDIKHSIKMFELTLDALISFNKRTLVLFPNIDAGSKEMVRVMRKKGIEHHPNF
                     RAVKHVPFDQFIQLVAHAGCMIGNSSCGVREVGAFGTPVINLGTRQIGRETGENVLHV
                     RDADTQDKILQALHLQFGKQYPCSKIYGDGNAVPRILKFLKSIDLQEPLQKKFCFPPV
                     KENISQDIDHILETLSALAVDLGGTNLRVAIVSMKGEIVKKYTQFNPKTYEERINLIL
                     QMCVEAAAEAVKLNCRILGVGISTGGRVNPREGIVLHSTKLIQEWNSVDLRTPLSDTL
                     HLPVWVDNDGNCAALAERKFGQGKGLENFVTLITGTGIGGGIIHQHELIHGSSFCAAE
                     LGHLVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGA
                     LHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDV
                     IRQQALSSVQDVDVVVSDLVDPALLGAASMVLDYTTRRIY"
     exon            335..786
                     /gene="GNE"
                     /gene_synonym="DMRV; GLCNE; IBM2; NM; THC12; Uae1"
                     /inference="alignment:Splign:2.1.0"
     exon            787..939
                     /gene="GNE"
                     /gene_synonym="DMRV; GLCNE; IBM2; NM; THC12; Uae1"
                     /inference="alignment:Splign:2.1.0"
     exon            940..1152
                     /gene="GNE"
                     /gene_synonym="DMRV; GLCNE; IBM2; NM; THC12; Uae1"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..1240
                     /gene="GNE"
                     /gene_synonym="DMRV; GLCNE; IBM2; NM; THC12; Uae1"
                     /inference="alignment:Splign:2.1.0"
     exon            1241..1451
                     /gene="GNE"
                     /gene_synonym="DMRV; GLCNE; IBM2; NM; THC12; Uae1"
                     /inference="alignment:Splign:2.1.0"
     exon            1452..1581
                     /gene="GNE"
                     /gene_synonym="DMRV; GLCNE; IBM2; NM; THC12; Uae1"
                     /inference="alignment:Splign:2.1.0"
     exon            1582..1803
                     /gene="GNE"
                     /gene_synonym="DMRV; GLCNE; IBM2; NM; THC12; Uae1"
                     /inference="alignment:Splign:2.1.0"
     exon            1804..1986
                     /gene="GNE"
                     /gene_synonym="DMRV; GLCNE; IBM2; NM; THC12; Uae1"
                     /inference="alignment:Splign:2.1.0"
     exon            1987..2103
                     /gene="GNE"
                     /gene_synonym="DMRV; GLCNE; IBM2; NM; THC12; Uae1"
                     /inference="alignment:Splign:2.1.0"
     exon            2104..5263
                     /gene="GNE"
                     /gene_synonym="DMRV; GLCNE; IBM2; NM; THC12; Uae1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5244..5249
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNE"
                     /gene_synonym="DMRV; GLCNE; IBM2; NM; THC12; Uae1"
                     /note="hexamer: AATACA"
     polyA_site      5263
                     /gene="GNE"
                     /gene_synonym="DMRV; GLCNE; IBM2; NM; THC12; Uae1"
                     /note="major polyA site"
ORIGIN      
        1 gtctacccgc gcgcccgagc gcggaaaccg aggggcaggc tcgcgctctg cctgcttcgt
       61 ggcgcttggt tcgtccctcg cccgaggagc gcggtggcgg cgtgggaggg agcctctgac
      121 ggcgtctgga actctatttt aagaacctct caaaacgaaa caagcaaatc atggagaaga
      181 atggaaataa ccgaaagctg cgggtttgtg ttgctacttg taaccgtgca gattattcta
      241 aacttgcccc gatcatgttt ggcattaaaa ccgaacctga gttctttgaa cttgatgttg
      301 tggtacttgg ctctcacctg atagatgact atggaaatac atatcgaatg attgaacaag
      361 atgactttga cattaacacc aggctacaca caattgtgag gggagaagat gaggcagcca
      421 tggtggagtc agtaggcctg gccctagtga agctgccaga tgtccttaat cgcctgaagc
      481 ctgatatcat gattgttcat ggagacaggt ttgatgccct ggctctggcc acatctgctg
      541 ccttgatgaa catccgaatc cttcacattg aaggtgggga agtcagtggg accattgatg
      601 actctatcag acatgccata acaaaactgg ctcattatca tgtgtgctgc acccgcagtg
      661 cagagcagca cctgatatcc atgtgtgagg accatgatcg catccttttg gcaggctgcc
      721 cttcctatga caaacttctc tcagccaaga acaaagacta catgagcatc attcgcatgt
      781 ggctaggtga tgatgtaaaa tctaaagatt acattgttgc actacagcac cctgtgacca
      841 ctgacattaa gcattccata aaaatgtttg aattaacatt ggatgcactt atctcattta
      901 acaagcggac cctagtcctg tttccaaata ttgacgcagg gagcaaagag atggttcgag
      961 tgatgcggaa gaagggcatt gagcatcatc ccaactttcg tgcagttaaa cacgtcccat
     1021 ttgaccagtt tatacagttg gttgcccatg ctggctgtat gattgggaac agcagctgtg
     1081 gggttcgaga agttggagct tttggaacac ctgtgatcaa cctgggaaca cgtcagattg
     1141 gaagagaaac aggggagaat gttcttcatg tccgggatgc tgacacccaa gacaaaatat
     1201 tgcaagcact gcaccttcag tttggtaaac agtacccttg ttcaaagata tatggggatg
     1261 gaaatgctgt tccaaggatt ttgaagtttc tcaaatctat cgatcttcaa gagccactgc
     1321 aaaagaaatt ctgctttcct cctgtgaagg agaatatctc tcaagatatt gaccatattc
     1381 ttgaaactct aagtgccttg gccgttgatc ttggcgggac gaacctccga gttgcaatag
     1441 tcagcatgaa gggtgaaata gttaagaagt atactcagtt caatcctaaa acctatgaag
     1501 agaggattaa tttaatccta cagatgtgtg tggaagctgc agcagaagct gtaaaactga
     1561 actgcagaat tttgggagta ggcatttcca caggtggccg tgtaaatcct cgggaaggaa
     1621 ttgtgctgca ttcaaccaaa ctgatccaag agtggaactc tgtggacctt aggacccccc
     1681 tttctgacac tttgcatctc cctgtgtggg tagacaatga tggcaactgt gctgccctgg
     1741 cggaaaggaa atttggccaa ggaaagggac tggaaaactt tgttacactt atcacaggca
     1801 caggaatcgg tggtggaatt atccatcagc atgaattgat ccacggaagc tccttctgtg
     1861 ctgcagaact gggccacctt gttgtgtctc tggatgggcc tgattgttcc tgtggaagcc
     1921 atgggtgcat tgaagcatac gcctctggaa tggccttgca gagggaggca aaaaagctcc
     1981 atgatgagga cctgctcttg gtggaaggga tgtcagtgcc aaaagatgag gctgtgggtg
     2041 cgctccatct catccaagct gcgaaacttg gcaatgcgaa ggcccagagc atcctaagaa
     2101 cagctggaac agctttgggt cttggggttg tgaacatcct ccataccatg aatccctccc
     2161 ttgtgatcct ctccggagtc ctggccagtc actatatcca cattgtcaaa gacgtcattc
     2221 gccagcaggc cttgtcctcc gtgcaggacg tggatgtggt ggtttcggat ttggttgacc
     2281 ccgccctgct gggtgctgcc agcatggttc tggactacac aacacgcagg atctactaga
     2341 cctccaggaa cagacatgga ccttctctcc agagctcctg agtggaatca agttcttgtc
     2401 tttaggatga ccgtttctta acaatcaaat ctggtattga actgcaggtg actttggcag
     2461 agaaatgttt tcacttttgg tctcctcttc cagagtcacc tttccccact cctatttttg
     2521 tagatgctat tctttctgat gtcttcttac taggggtcat tttagctcaa accctgtaag
     2581 ttacagtcac aattttctgt gccaaagcag ctacaataat agagaggaag ccttcttaga
     2641 actctgctta ctaatgtatt aataccactg agaccttcag gccttgcctg ggatatcact
     2701 tcatcctgaa gtttgcatta ataatccttc caggccgggc acagtggctc acgcctgtaa
     2761 tcccagcact ttgggaggcc gaggcgggcg gatcacgagg tcaggagatc gagaccgccc
     2821 tggctaacat ggtgaaacat ggtgaaaccc cgtctctact aaaaatacaa aaaattagct
     2881 gggtgtggtg gcgggtccca gctactcggg aggctgaggc aggagaatgg catgaaccag
     2941 ggaggcggag ctggcagtga actgagaccg caccactgca ctccagcctg ggtgacagag
     3001 caagactcca tctcaaaaat aataataata aataataata ataataataa taataataat
     3061 aatccttcca gctgggcgca gtggctcacg cctgtaatcc caacattttg ggaggccgag
     3121 atgggcggat cacctgaggt caggagttca agaccagcct ggccaacatg gtgaaacccc
     3181 atctctacta aaatacaaaa attagccggg cgtggtggca tgtgcctgta gtcccagcta
     3241 ctcgggaggc tgaggcagga gaattgcttg aacccgggag gcggaggttg cagtgagccg
     3301 agatcatgcc actgcactcc accctgggtg acagagcgag actccgtcta cacacacaca
     3361 cacacacaca cacacatcct tcctcctcta accccaaact aagatcacag aaggtgatcc
     3421 agtcagagaa cagagggaaa tcttaccagg aagggcttaa gtacactttt ttttaaaaca
     3481 gctttattgt ttttaaagcc tacaatttga taagccttga catatgtata cctgtgaaag
     3541 catcaccaca atcaagacac tggacatatc tatcactccc ccatctcaga tatcccccct
     3601 aatcctggat accatttgtt gaaagatgtt attactctag ctgaacttac aagagacttt
     3661 agaccaggga tctaaattac agtggcctta gtgaccttgt ccttatcttc ttaggacagc
     3721 tgagaagcca ctgggactta gagcctttaa aaggagatta actgtcccaa aaggatcttt
     3781 gctactgacc agcagacact tcttccttca gtagcctttc atactgtgtt gagtaacacc
     3841 ctagggtgtc cattaaagtt ttgagtttta cctagagccc agagccatga atcaggattc
     3901 tgtctacatg attcgtgttt tcattggtgt caaaatacaa aagccaaagt tctggctatg
     3961 aattgttaac ttggaagaaa tactaactgc caccacttat taagtgccta ctgtgtgcca
     4021 ggctctgaac taggtgcttc atatacatta tcctaaatta tctcaacata tgaggtaggt
     4081 gttttaattt ttattttata gaacttggtg tgtttgactg ttaagctatg gggctagaga
     4141 gagggtttga tcccaggtcc ctctgtgctt ttgctgctga gccacacaac ctctcatttc
     4201 aaaaacactt tcaaaatgct aacatattct aattcactct aggccaccaa aaactttaat
     4261 actaatatct gatttgtaaa tgacttaatg tatccttgac cctatcagct gaatttaatg
     4321 aaatattcct ctctgctgtg aaattttacc agtatagtat ttggtctagt gacaggtgtt
     4381 ctattttttt gagacgggtc tcactctgtc acccaggctg gagtgcagtg gctcaatgca
     4441 acctctgccc cccaagttca agtgattctc ctgcctcagc ctcttgagta gctgggatta
     4501 caggcacatg caccacgccc ggctgatttt tttttgtatt tttagtagac agggtttcac
     4561 catgttggcc aggctggtct tgaactcctg acctcaggtg atccgcccgc ctctgcctcc
     4621 caaagtgctg ggattacagg tgtaagccat cacacctggc cctagtgaca ggtttttatg
     4681 ggtactttta gatgatctaa gaaatcatgt gcatatatct ttcagatttc tattttggga
     4741 aaatgaaggt ttctacaaca tattgtttca gtgttcaaat aaactgaagg actcaacatt
     4801 acatttgaac tatatccttc ctagtgggtt agtgtgaaaa agagtttggc tgattcctaa
     4861 aactctgcca gccctgcagt aatctccagg gcctggttat tgttcagaca ttccatggtg
     4921 attcctggga aggaagcttg gctgctcagt ttctgagtct ggggtgagat aatgttctgg
     4981 gaagggacat ctgttctttg gtgtaatctc tcatggtgaa atctgctctg tacatcagac
     5041 aattgcattg ctaccaagtt tcataccaaa tatttgaaag gatggtattg aatctaaaac
     5101 caaatattag tttttattaa actcatggga aggctaatat attccaacgt aaattattac
     5161 atatggttaa gtaattgcat gttaatttat tttaatgtaa atatttttgt tactgttctg
     5221 agccaaattc taaagaaaaa ataaatacat ttccttgttg aaa
//
