LOCUS       NM_000434               3353 bp    mRNA    linear   PRI 03-AUG-2024
DEFINITION  Homo sapiens neuraminidase 1 (NEU1), mRNA.
ACCESSION   NM_000434
VERSION     NM_000434.4
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 3353)
  AUTHORS   Toussaint,K., Appert-Collin,A., Vanalderwiert,L., Bour,C.,
            Terryn,C., Spenle,C., Van Der Heyden,M., Roumieux,M., Maurice,P.,
            Romier-Crouzet,B., Sartelet,H., Duca,L., Blaise,S. and
            Bennasroune,A.
  TITLE     Inhibition of neuraminidase-1 sialidase activity by interfering
            peptides impairs insulin receptor activity in vitro and glucose
            homeostasis in vivo
  JOURNAL   J Biol Chem 300 (6), 107316 (2024)
   PUBMED   38663826
  REMARK    GeneRIF: Inhibition of neuraminidase-1 sialidase activity by
            interfering peptides impairs insulin receptor activity in vitro and
            glucose homeostasis in vivo.
REFERENCE   2  (bases 1 to 3353)
  AUTHORS   Xie,N., Mei,S., Dai,C. and Chen,W.
  TITLE     HDAC1-Mediated Downregulation of NEU1 Exacerbates the
            Aggressiveness of Cervical Cancer
  JOURNAL   Crit Rev Eukaryot Gene Expr 34 (4), 45-54 (2024)
   PUBMED   38505872
  REMARK    GeneRIF: HDAC1-Mediated Downregulation of NEU1 Exacerbates the
            Aggressiveness of Cervical Cancer.
REFERENCE   3  (bases 1 to 3353)
  AUTHORS   Zeng,S., Wen,Y. and Yu,C.
  TITLE     Desialylation of ATG5 by sialidase (NEU1) promotes macrophages
            autophagy and exacerbates inflammation under hypoxia
  JOURNAL   Cell Signal 112, 110927 (2023)
   PUBMED   37844713
  REMARK    GeneRIF: Desialylation of ATG5 by sialidase (NEU1) promotes
            macrophages autophagy and exacerbates inflammation under hypoxia.
REFERENCE   4  (bases 1 to 3353)
  AUTHORS   Liu,B.F. and Gao,Y.Z.
  TITLE     [The expression of neuraminidase-1 in Ewing sarcoma and its impact
            on sarcoma cell proliferation and migration]
  JOURNAL   Zhonghua Yi Xue Za Zhi 103 (41), 3287-3293 (2023)
   PUBMED   37926573
  REMARK    GeneRIF: [The expression of neuraminidase-1 in Ewing sarcoma and
            its impact on sarcoma cell proliferation and migration].
REFERENCE   5  (bases 1 to 3353)
  AUTHORS   Haxho,F., Neufeld,R.J. and Szewczuk,M.R.
  TITLE     Neuraminidase-1: a novel therapeutic target in multistage
            tumorigenesis
  JOURNAL   Oncotarget 7 (26), 40860-40881 (2016)
   PUBMED   27029067
  REMARK    GeneRIF: neuraminidase-1 (Neu1) in complex with matrix
            metalloproteinase-9 and G protein-coupled receptor tethered to RTKs
            and TLRs is identified as a major target in multistage
            tumorigenesis [review]
            Review article
REFERENCE   6  (bases 1 to 3353)
  AUTHORS   Miyagi,T. and Yamaguchi,K.
  TITLE     Mammalian sialidases: physiological and pathological roles in
            cellular functions
  JOURNAL   Glycobiology 22 (7), 880-896 (2012)
   PUBMED   22377912
  REMARK    Review article
REFERENCE   7  (bases 1 to 3353)
  AUTHORS   Seyrantepe,V., Poupetova,H., Froissart,R., Zabot,M.T., Maire,I. and
            Pshezhetsky,A.V.
  TITLE     Molecular pathology of NEU1 gene in sialidosis
  JOURNAL   Hum Mutat 22 (5), 343-352 (2003)
   PUBMED   14517945
  REMARK    GeneRIF: Summary of NEU1 mutations found in sialidosis patients.
            Review article
REFERENCE   8  (bases 1 to 3353)
  AUTHORS   Okamura-Oho,Y., Zhang,S. and Callahan,J.W.
  TITLE     The biochemistry and clinical features of galactosialidosis
  JOURNAL   Biochim Biophys Acta 1225 (3), 244-254 (1994)
   PUBMED   8312369
  REMARK    Review article
REFERENCE   9  (bases 1 to 3353)
  AUTHORS   Verheijen,F.W., Palmeri,S. and Galjaard,H.
  TITLE     Purification and partial characterization of lysosomal
            neuraminidase from human placenta
  JOURNAL   Eur J Biochem 162 (1), 63-67 (1987)
   PUBMED   3102233
REFERENCE   10 (bases 1 to 3353)
  AUTHORS   Verheijen,F.W., Palmeri,S., Hoogeveen,A.T. and Galjaard,H.
  TITLE     Human placental neuraminidase. Activation, stabilization and
            association with beta-galactosidase and its protective protein
  JOURNAL   Eur J Biochem 149 (2), 315-321 (1985)
   PUBMED   3922758
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC000722.2, CA428930.1 and
            AL671762.10.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000434.3.
            
            Summary: The protein encoded by this gene is a lysosomal enzyme
            that cleaves terminal sialic acid residues from substrates such as
            glycoproteins and glycolipids. In the lysosome, this enzyme is part
            of a heterotrimeric complex together with beta-galactosidase and
            cathepsin A (the latter is also referred to as 'protective
            protein'). Mutations in this gene can lead to sialidosis, a
            lysosomal storage disease that can be type 1 (cherry red
            spot-myoclonus syndrome or normosomatic type), which is late-onset,
            or type 2 (the dysmorphic type), which occurs at an earlier age
            with increased severity. [provided by RefSeq, Jul 2008].
            
            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 :: BC000722.2, X78687.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375631.5/ ENSP00000364782.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1837              BC000722.2         53-1889
            1838-1960           CA428930.1         18-140              c
            1961-3353           AL671762.10        65507-66899         c
FEATURES             Location/Qualifiers
     source          1..3353
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..3353
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="neuraminidase 1"
                     /db_xref="GeneID:4758"
                     /db_xref="HGNC:HGNC:7758"
                     /db_xref="MIM:608272"
     exon            1..204
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             46..1293
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /EC_number="3.2.1.18"
                     /note="exo-alpha-sialidase; lysosomal sialidase;
                     N-acetyl-alpha-neuraminidase 1; acetylneuraminyl
                     hydrolase; G9 sialidase; sialidase 1 (lysosomal
                     sialidase)"
                     /codon_start=1
                     /product="sialidase-1 precursor"
                     /protein_id="NP_000425.1"
                     /db_xref="CCDS:CCDS4723.1"
                     /db_xref="GeneID:4758"
                     /db_xref="HGNC:HGNC:7758"
                     /db_xref="MIM:608272"
                     /translation="MTGERPSTALPDRRWGPRILGFWGGCRVWVFAAIFLLLSLAASW
                     SKAENDFGLVQPLVTMEQLLWVSGRQIGSVDTFRIPLITATPRGTLLAFAEARKMSSS
                     DEGAKFIALRRSMDQGSTWSPTAFIVNDGDVPDGLNLGAVVSDVETGVVFLFYSLCAH
                     KAGCQVASTMLVWSKDDGVSWSTPRNLSLDIGTEVFAPGPGSGIQKQREPRKGRLIVC
                     GHGTLERDGVFCLLSDDHGASWRYGSGVSGIPYGQPKQENDFNPDECQPYELPDGSVV
                     INARNQNNYHCHCRIVLRSYDACDTLRPRDVTFDPELVDPVVAAGAVVTSSGIVFFSN
                     PAHPEFRVNLTLRWSFSNGTSWRKETVQLWPGPSGYSSLATLEGSMDGEEQAPQLYVL
                     YEKGRNHYTESISVAKISVYGTL"
     exon            205..397
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            398..660
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            661..843
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            844..1066
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..3353
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1789..1794
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="hexamer: AATGAA"
     regulatory      1799..1804
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="hexamer: AATGAA"
     polyA_site      1809
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="major polyA site"
     polyA_site      1837
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
     polyA_site      1960
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
ORIGIN      
        1 ctctgtggag tctagctgcc agggtcgcgg cagctgcggg gagagatgac tggggagcga
       61 cccagcacgg cgctcccgga cagacgctgg gggccgcgga ttctgggctt ctggggaggc
      121 tgtagggttt gggtgtttgc cgcgatcttc ctgctgctgt ctctggcagc ctcctggtcc
      181 aaggctgaga acgacttcgg tctggtgcag ccgctggtga ccatggagca actgctgtgg
      241 gtgagcggga gacagatcgg ctcagtggac accttccgca tcccgctcat cacagccact
      301 ccgcggggca ctcttctcgc ctttgctgag gcgaggaaaa tgtcctcatc cgatgagggg
      361 gccaagttca tcgccctgcg gaggtccatg gaccagggca gcacatggtc tcctacagcg
      421 ttcattgtca atgatgggga tgtccccgat gggctgaacc ttggggcagt agtgagcgat
      481 gttgagacag gagtagtatt tcttttctac tccctttgtg ctcacaaggc cggctgccag
      541 gtggcctcta ccatgttggt atggagcaag gatgatggtg tttcctggag cacaccccgg
      601 aatctctccc tggatattgg cactgaagtg tttgcccctg gaccgggctc tggtattcag
      661 aaacagcggg agccacggaa gggccgcctc atcgtgtgtg gccatgggac gctggagcgg
      721 gacggagtct tctgtctcct cagcgatgat catggtgcct cctggcgcta cggaagtggg
      781 gtcagcggca tcccctacgg tcagcccaag caggaaaatg atttcaatcc tgatgaatgc
      841 cagccctatg agctcccaga tggctcagtc gtcatcaatg cccgaaacca gaacaactac
      901 cactgccact gccgaattgt cctccgcagc tatgatgcct gtgatacact aaggccccgt
      961 gatgtgacct tcgaccctga gctcgtggac cctgtggtag ctgcaggagc tgtagtcacc
     1021 agctccggca ttgtcttctt ctccaaccca gcacatccag agttccgagt gaacctgacc
     1081 ctgcgatgga gcttcagcaa tggtacctca tggcggaaag agacagtcca gctatggcca
     1141 ggccccagtg gctattcatc cctggcaacc ctggagggca gcatggatgg agaggagcag
     1201 gccccccagc tctacgtcct gtatgagaaa ggccggaacc actacacaga gagcatctcc
     1261 gtggccaaaa tcagtgtcta tgggacactc tgagctgtgc cactgccaca ggggtattct
     1321 gccttcagga ctctgccttc aggaacacgg gtctgtagag ggtctgctgg agacgcctga
     1381 aagacagttc catcttcctt tagactccag ccttggcaaa atcaccttcc ctttaccagg
     1441 gaaatcactt cctttaggac tgaaagctag gcgtcctctc ccacaaaaaa gtcctgccct
     1501 catctgagaa tactgtcttt ccatatggct aagtgtggcc ccaccaccct ctctgccctc
     1561 ccgggacatt gattggtcct gtcttgggca ggtctagtga gctgtagaat tgaatcaatg
     1621 tgaactcagg gaactgggga aggctgagcc tcctctttgg tgttgcggta agataaccga
     1681 cagggctggt gaaagtcccc agatggcagg atatttggtt tcagagtaag gactaggtgc
     1741 accaccatga ctgactatca atcaaaatgt ttgtaactta aaatttttaa tgaaggataa
     1801 tgaatatttg tagagtctct atggttctgt caatgcacat cttcgtgtct gttttcctca
     1861 tgtatccttg tgagcctggg tgagttctgg ggagagacct gatgtgcgta ctgcctgtga
     1921 aaatctgact ttggcaaatc aaatcctctt ttccttttga catgccctct ttttttgttg
     1981 ttgctttttt tgagacaggg ctcgctctgt cacccaggct ggagtgcagt tgcacaatca
     2041 cggctcactg aagcctcaac ctcctgggct caagtgatcc tcacgtctca gcctccggag
     2101 tagttgggac tacaggtcag tgacaccatg cctggttaat ttttttaatt tttattttca
     2161 gtagagacaa ggttgcgcta tgttgcccag gctggtatgg aactcctgtg cttaagcaat
     2221 cctcatgcct cagcttccca aagtgctgag gttacagcta tgagccaccg cacccagcct
     2281 acattccttc ttatcaccga gaaacaggtt gatcttcaca ggtgtaatga gtatgaaggg
     2341 agtgccataa gatatttttt attttttatt tatttatttt ttaatttaat tttttttttt
     2401 ttgagatgga gtcttgctct ggcacccagg ctagagtgca gtggtgcgat ctcggctcac
     2461 tgcaacctct gcctcccagg ttcaagcgat tcttctgcct cagcttcccg aatagctggg
     2521 attacaggtg cccaccacca cacccggcta atttttgtat ttttagtaga gacggagttt
     2581 caccatgttg gccaggctgg tctcaaactc ctggcctcag gtgatccacc cgcctcggcc
     2641 tcccaaagtg ttgtgattac aagcatgagc catggtgccg gcgggctgat ttttttaatt
     2701 tttagtagag acaaagtctc actatattgc ctaggttggt ctcaaactgc tgagctcaag
     2761 caatctgccg gccatgttct ctcaaagtgc tgggattaca ggcttgagcc cctgcaccca
     2821 gcctgtaaga tattttaaaa tccacacttg gccaagcgtg gtggctcaca catataatcc
     2881 cagcactttg ggaggccaag gtgggcggat cacaaggtca ggagttcgag accagcctgg
     2941 ccaatatggt gaaatcccat ctctactaaa aatacaaaaa ctagccaggc gtgttggctt
     3001 acacttatag tcccagctac tcaggtggct gaggcaggag aatcacttga accaggaggc
     3061 ggagtttgca gtgagctgag atcacagcac tgcacaccag cctcggcaac agagtgagac
     3121 tccgtctgaa aaaaaaaaaa tccacgctgt tttatatttc taacatgggg taggatacca
     3181 tcctccatga aatagggtgc aagtgtgtga aatgcagatg ggaatcctgt cccagctagc
     3241 ctgacagaga agtgagcact tcctatggca aattatgtaa gaaaatattc cccaggcaga
     3301 tgcttatgaa aagaatctgt tcagcctgca ggtaagtggg agagcccttg ctc
//
