LOCUS       NM_001167600            1905 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens neuraminidase 4 (NEU4), transcript variant 3, mRNA.
ACCESSION   NM_001167600
VERSION     NM_001167600.3
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 1905)
  AUTHORS   Huo,A. and Wang,F.
  TITLE     Biomarkers of ulcerative colitis disease activity CXCL1, CYP2R1,
            LPCAT1, and NEU4 and their relationship to immune infiltrates
  JOURNAL   Sci Rep 13 (1), 12126 (2023)
   PUBMED   37495756
  REMARK    GeneRIF: Biomarkers of ulcerative colitis disease activity CXCL1,
            CYP2R1, LPCAT1, and NEU4 and their relationship to immune
            infiltrates.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1905)
  AUTHORS   Okun,S., Peek,A. and Igdoura,S.A.
  TITLE     Neuraminidase 4 (NEU4): new biological and physiological player
  JOURNAL   Glycobiology 33 (3), 182-187 (2023)
   PUBMED   36728702
  REMARK    GeneRIF: Neuraminidase 4 (NEU4): new biological and physiological
            player.
            Review article
REFERENCE   3  (bases 1 to 1905)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1905)
  AUTHORS   Cai,B.H., Wu,P.H., Chou,C.K., Huang,H.C., Chao,C.C., Chung,H.Y.,
            Lee,H.Y., Chen,J.Y. and Kannagi,R.
  TITLE     Synergistic activation of the NEU4 promoter by p73 and AP2 in colon
            cancer cells
  JOURNAL   Sci Rep 9 (1), 950 (2019)
   PUBMED   30700826
  REMARK    GeneRIF: Synergistic activation of the NEU4 promoter by p73 and AP2
            in colon cancer cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1905)
  AUTHORS   Jia,F., Howlader,M.A. and Cairo,C.W.
  TITLE     Integrin-mediated cell migration is blocked by inhibitors of human
            neuraminidase
  JOURNAL   Biochim Biophys Acta 1861 (9 Pt A), 1170-1179 (2016)
   PUBMED   27344026
  REMARK    GeneRIF: The most potent compound tested targeted the human Neu4
            isoenzyme, and was able to substantially reduce the rate of cell
            migration. We found that the lateral mobility of integrins was
            reduced by treatment of cells with Neu3, suggesting that Neu3
            enzyme activity resulted in changes to integrin-co-receptor or
            integrin-cytoskeleton interactions
REFERENCE   6  (bases 1 to 1905)
  AUTHORS   Bigi,A., Morosi,L., Pozzi,C., Forcella,M., Tettamanti,G.,
            Venerando,B., Monti,E. and Fusi,P.
  TITLE     Human sialidase NEU4 long and short are extrinsic proteins bound to
            outer mitochondrial membrane and the endoplasmic reticulum,
            respectively
  JOURNAL   Glycobiology 20 (2), 148-157 (2010)
   PUBMED   19797320
  REMARK    GeneRIF: The NEU4 long form localizes in mitochondria, while the
            short form is also associated with the endoplasmic reticulum.
REFERENCE   7  (bases 1 to 1905)
  AUTHORS   Wan,D., Gong,Y., Qin,W., Zhang,P., Li,J., Wei,L., Zhou,X., Li,H.,
            Qiu,X., Zhong,F., He,L., Yu,J., Yao,G., Jiang,H., Qian,L., Yu,Y.,
            Shu,H., Chen,X., Xu,H., Guo,M., Pan,Z., Chen,Y., Ge,C., Yang,S. and
            Gu,J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE   8  (bases 1 to 1905)
  AUTHORS   Seyrantepe,V., Landry,K., Trudel,S., Hassan,J.A., Morales,C.R. and
            Pshezhetsky,A.V.
  TITLE     Neu4, a novel human lysosomal lumen sialidase, confers normal
            phenotype to sialidosis and galactosialidosis cells
  JOURNAL   J Biol Chem 279 (35), 37021-37029 (2004)
   PUBMED   15213228
  REMARK    GeneRIF: Neu4 is a novel human lysosomal lumen sialidase
REFERENCE   9  (bases 1 to 1905)
  AUTHORS   Monti,E., Bassi,M.T., Bresciani,R., Civini,S., Croci,G.L.,
            Papini,N., Riboni,M., Zanchetti,G., Ballabio,A., Preti,A.,
            Tettamanti,G., Venerando,B. and Borsani,G.
  TITLE     Molecular cloning and characterization of NEU4, the fourth member
            of the human sialidase gene family
  JOURNAL   Genomics 83 (3), 445-453 (2004)
   PUBMED   14962670
  REMARK    GeneRIF: The NEU4 gene, identified by searching sequence databases
            for entries showing homologies to the human cytosolic sialidase
            NEU2, maps in 2q37 and encodes a 484-residue protein.
REFERENCE   10 (bases 1 to 1905)
  AUTHORS   Comelli,E.M., Amado,M., Lustig,S.R. and Paulson,J.C.
  TITLE     Identification and expression of Neu4, a novel murine sialidase
  JOURNAL   Gene 321, 155-161 (2003)
   PUBMED   14637003
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK289421.1, AC131097.6 and
            BC063465.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001167600.2.
            
            Summary: The protein encoded by this gene belongs to a family of
            glycohydrolytic enzymes, which remove terminal sialic acid residues
            from various sialo derivatives, such as glycoproteins, glycolipids,
            oligosaccharides, and gangliosides. Alternatively spliced
            transcript variants encoding different isoforms have been noted for
            this gene. [provided by RefSeq, Nov 2009].
            
            Transcript Variant: This variant (3) contains an alternate exon at
            the 5' end compared to variant 1, resulting in translation
            initiation from an in-frame downstream AUG, and an isoform (3, also
            known as NEU4 short) with a shorter N-terminus compared to isoform
            1. Variants 3-5 encode the same isoform.
            
            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 :: AK289421.1, AK300969.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000407683.6/ ENSP00000385402.1
            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
            1-576               AK289421.1         6-581
            577-1641            AC131097.6         28183-29247
            1642-1905           BC063465.1         1611-1874
FEATURES             Location/Qualifiers
     source          1..1905
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.3"
     gene            1..1905
                     /gene="NEU4"
                     /note="neuraminidase 4"
                     /db_xref="GeneID:129807"
                     /db_xref="HGNC:HGNC:21328"
                     /db_xref="MIM:608527"
     exon            1..82
                     /gene="NEU4"
                     /inference="alignment:Splign:2.1.0"
     exon            83..286
                     /gene="NEU4"
                     /inference="alignment:Splign:2.1.0"
     CDS             86..1540
                     /gene="NEU4"
                     /EC_number="3.2.1.18"
                     /note="isoform 3 is encoded by transcript variant 3;
                     sialidase-4; N-acetyl-alpha-neuraminidase 4; neuraminidase
                     4 (sialidase)"
                     /codon_start=1
                     /product="sialidase-4 isoform 3"
                     /protein_id="NP_001161072.1"
                     /db_xref="CCDS:CCDS54442.1"
                     /db_xref="GeneID:129807"
                     /db_xref="HGNC:HGNC:21328"
                     /db_xref="MIM:608527"
                     /translation="MGVPRTPSRTVLFERERTGLTYRVPSLLPVPPGPTLLAFVEQRL
                     SPDDSHAHRLVLRRGTLAGGSVRWGALHVLGTAALAEHRSMNPCPVHDAGTGTVFLFF
                     IAVLGHTPEAVQIATGRNAARLCCVASRDAGLSWGSARDLTEEAIGGAVQDWATFAVG
                     PGHGVQLPSGRLLVPAYTYRVDRRECFGKICRTSPHSFAFYSDDHGRTWRCGGLVPNL
                     RSGECQLAAVDGGQAGSFLYCNARSPLGSRVQALSTDEGTSFLPAERVASLPETAWGC
                     QGSIVGFPAPAPNRPRDDSWSVGPGSPLQPPLLGPGVHEPPEEAAVDPRGGQVPGGPF
                     SRLQPRGDGPRQPGPRPGVSGDVGSWTLALPMPFAAPPQSPTWLLYSHPVGRRARLHM
                     GIRLSQSPLDPRSWTEPWVIYEGPSGYSDLASIGPAPEGGLVFACLYESGARTSYDEI
                     SFCTFSLREVLENVPASPKPPNLGDKPRGCCWPS"
     exon            287..542
                     /gene="NEU4"
                     /inference="alignment:Splign:2.1.0"
     exon            543..1905
                     /gene="NEU4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1880..1885
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NEU4"
                     /note="hexamer: AATAAA"
     polyA_site      1905
                     /gene="NEU4"
                     /note="major polyA site"
ORIGIN      
        1 acagtcaccg aagaaatgaa gttacaggag gggcacaccg tccttttgtc tctgcctttg
       61 aggttggcgg gaactgaaac tgagcatggg ggtccctcgt accccttcac ggacagtgct
      121 cttcgagcgg gagaggacgg gcctgaccta ccgcgtgccc tcgctgctcc ccgtgccccc
      181 cgggcccacc ctgctggcct ttgtggagca gcggctcagc cctgacgact cccacgccca
      241 ccgcctggtg ctgaggaggg gcacgctggc cgggggctcc gtgcggtggg gtgccctgca
      301 cgtgctgggg acagcagccc tggcggagca ccggtccatg aacccctgcc ctgtgcacga
      361 tgctggcacg ggcaccgtct tcctcttctt catcgcggtg ctgggccaca cgcctgaggc
      421 cgtgcagatc gccacgggaa ggaacgccgc gcgcctctgc tgtgtggcca gccgtgacgc
      481 cggcctctcg tggggcagcg cccgggacct caccgaggag gccatcggtg gtgccgtgca
      541 ggactgggcc acattcgctg tgggtcccgg ccacggtgtg cagctgccct caggccgcct
      601 gctggtaccc gcctacacct accgcgtgga ccgccgagag tgttttggca agatctgccg
      661 gaccagccct cactccttcg ccttctacag cgatgaccac ggccgcacct ggcgctgtgg
      721 aggcctcgtg cccaacctgc gctcaggcga gtgccagctg gcagcggtgg acggtgggca
      781 ggccggcagc ttcctctact gcaatgcccg gagcccactg ggcagccgtg tgcaggcgct
      841 cagcactgac gagggcacct ccttcctgcc cgcagagcgc gtggcttccc tgcccgagac
      901 tgcctggggc tgccagggca gcatcgtggg cttcccagcc cccgccccca acaggccacg
      961 ggatgacagt tggtcagtgg gccccgggag tcccctccag cctccactcc tcggtcctgg
     1021 agtccacgaa cccccagagg aggctgctgt agacccccgt ggaggccagg tgcctggtgg
     1081 gcccttcagc cgtctgcagc ctcgggggga tggccccagg cagcctggcc ccaggcctgg
     1141 ggtcagtggg gatgtggggt cctggaccct ggcactcccc atgccctttg ctgccccgcc
     1201 ccagagcccc acgtggctgc tgtactccca cccagtgggg cgcagggctc ggctacacat
     1261 gggtatccgc ctgagccagt ccccgctgga cccgcgcagc tggacagagc cctgggtgat
     1321 ctacgagggc cccagcggct actccgacct ggcgtccatc gggccggccc ctgagggggg
     1381 cctggttttt gcctgcctgt acgagagcgg ggccaggacc tcctatgatg agatttcctt
     1441 ttgtacattc tccctgcgtg aggtcctgga gaacgtgccc gccagcccca aaccgcccaa
     1501 ccttggggac aagcctcggg ggtgctgctg gccctcctga caggccttct ggccgtgccc
     1561 atgccccttg ggtgcctggg gcagaggggt ggaatacgtt ggggtgcccc acgatagctg
     1621 tggggggggc tcttagtgca ggatcctgtg gattagaaac aagttgctcc tcagagctct
     1681 caagcaggga ctgctcttta ggaaggggag cagcggctgg gagtgagcag ggcagggtgg
     1741 gggcagggtg ggggcacgaa gtgggccctg ggtgaccccc acagctccct tccgaggctg
     1801 cagggccagg cgcgggaccg caggtagccc agggtgttgt gggtggcagc acttgtttac
     1861 tggctgcttt ctggctcgaa ataaaggaat cgtgcttgtg tcggg
//
