LOCUS       NM_004595               1703 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens spermine synthase (SMS), transcript variant 1, mRNA.
ACCESSION   NM_004595
VERSION     NM_004595.5
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 1703)
  AUTHORS   Tao,X., Liu,J., Diaz-Perez,Z., Foley,J.R., Nwafor,A., Stewart,T.M.,
            Casero,R.A. Jr. and Zhai,R.G.
  TITLE     Reduction of spermine synthase enhances autophagy to suppress Tau
            accumulation
  JOURNAL   Cell Death Dis 15 (5), 333 (2024)
   PUBMED   38740758
  REMARK    GeneRIF: Reduction of spermine synthase enhances autophagy to
            suppress Tau accumulation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1703)
  AUTHORS   Cressman,A., Morales,D., Zhang,Z., Le,B., Foley,J.,
            Murray-Stewart,T., Genetos,D.C. and Fierro,F.A.
  TITLE     Effects of Spermine Synthase Deficiency in Mesenchymal Stromal
            Cells Are Rescued by Upstream Inhibition of Ornithine Decarboxylase
  JOURNAL   Int J Mol Sci 25 (5), 2463 (2024)
   PUBMED   38473716
  REMARK    GeneRIF: Effects of Spermine Synthase Deficiency in Mesenchymal
            Stromal Cells Are Rescued by Upstream Inhibition of Ornithine
            Decarboxylase.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1703)
  AUTHORS   Qazi,T.J., Wu,Q., Aierken,A., Lu,D., Bukhari,I., Hussain,H.M.J.,
            Yang,J., Mir,A. and Qing,H.
  TITLE     Whole-exome sequencing identifies a novel mutation in spermine
            synthase gene (SMS) associated with Snyder-Robinson Syndrome
  JOURNAL   BMC Med Genet 21 (1), 168 (2020)
   PUBMED   32838743
  REMARK    GeneRIF: Whole-exome sequencing identifies a novel mutation in
            spermine synthase gene (SMS) associated with Snyder-Robinson
            Syndrome.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1703)
  AUTHORS   Becerra-Solano,L.E., Butler,J., Castaneda-Cisneros,G.,
            McCloskey,D.E., Wang,X., Pegg,A.E., Schwartz,C.E.,
            Sanchez-Corona,J. and Garcia-Ortiz,J.E.
  TITLE     A missense mutation, p.V132G, in the X-linked spermine synthase
            gene (SMS) causes Snyder-Robinson syndrome
  JOURNAL   Am J Med Genet A 149A (3), 328-335 (2009)
   PUBMED   19206178
  REMARK    GeneRIF: A missense mutation, p. V132G, in the X-linked SMS gene
            causes Snyder-Robinson syndrome.
REFERENCE   5  (bases 1 to 1703)
  AUTHORS   Wu,H., Min,J., Zeng,H., McCloskey,D.E., Ikeguchi,Y., Loppnau,P.,
            Michael,A.J., Pegg,A.E. and Plotnikov,A.N.
  TITLE     Crystal structure of human spermine synthase: implications of
            substrate binding and catalytic mechanism
  JOURNAL   J Biol Chem 283 (23), 16135-16146 (2008)
   PUBMED   18367445
REFERENCE   6  (bases 1 to 1703)
  AUTHORS   Cason,A.L., Ikeguchi,Y., Skinner,C., Wood,T.C., Holden,K.R.,
            Lubs,H.A., Martinez,F., Simensen,R.J., Stevenson,R.E., Pegg,A.E.
            and Schwartz,C.E.
  TITLE     X-linked spermine synthase gene (SMS) defect: the first polyamine
            deficiency syndrome
  JOURNAL   Eur J Hum Genet 11 (12), 937-944 (2003)
   PUBMED   14508504
REFERENCE   7  (bases 1 to 1703)
  AUTHORS   Arena,J.F., Schwartz,C., Ouzts,L., Stevenson,R., Miller,M.,
            Garza,J., Nance,M. and Lubs,H.
  TITLE     X-linked mental retardation with thin habitus, osteoporosis, and
            kyphoscoliosis: linkage to Xp21.3-p22.12
  JOURNAL   Am J Med Genet 64 (1), 50-58 (1996)
   PUBMED   8826448
REFERENCE   8  (bases 1 to 1703)
  AUTHORS   Korhonen,V.P., Halmekyto,M., Kauppinen,L., Myohanen,S.,
            Wahlfors,J., Keinanen,T., Hyvonen,T., Alhonen,L., Eloranta,T. and
            Janne,J.
  TITLE     Molecular cloning of a cDNA encoding human spermine synthase
  JOURNAL   DNA Cell Biol 14 (10), 841-847 (1995)
   PUBMED   7546290
REFERENCE   9  (bases 1 to 1703)
  AUTHORS   Schwartz,C.E., Peron,A. and Kutler,M.J.
  TITLE     Snyder-Robinson Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23805436
REFERENCE   10 (bases 1 to 1703)
  AUTHORS   Snyder,R.D. and Robinson,A.
  TITLE     Recessive sex-linked mental retardation in the absence of other
            recognizable abnormalities. Report of a family
  JOURNAL   Clin Pediatr (Phila) 8 (11), 669-674 (1969)
   PUBMED   5823961
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U73023.1, AD001528.1 and
            BC009898.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004595.4.
            
            Summary: This gene encodes a protein belonging to the
            spermidine/spermin synthase family and catalyzes the production of
            spermine from spermidine. Pseudogenes of this gene are located on
            chromosomes 1, 5, 6 and X. Mutations in this gene cause an X-linked
            intellectual disability called Snyder-Robinson Syndrome (SRS).
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2017].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer protein (isoform 1).
            
            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 :: SRR3476690.1167824.1,
                                           SRR1660809.231072.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000404933.7/ ENSP00000385746.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                U73023.1           12047-12061
            16-1700             AD001528.1         1-1685
            1701-1703           BC009898.2         1661-1663
FEATURES             Location/Qualifiers
     source          1..1703
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.11"
     gene            1..1703
                     /gene="SMS"
                     /gene_synonym="MRSR; MRXSSR; SPMSY; SpS; SRS"
                     /note="spermine synthase"
                     /db_xref="GeneID:6611"
                     /db_xref="HGNC:HGNC:11123"
                     /db_xref="MIM:300105"
     exon            1..165
                     /gene="SMS"
                     /gene_synonym="MRSR; MRXSSR; SPMSY; SpS; SRS"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..1217
                     /gene="SMS"
                     /gene_synonym="MRSR; MRXSSR; SPMSY; SpS; SRS"
                     /EC_number="2.5.1.22"
                     /note="isoform 1 is encoded by transcript variant 1;
                     spermidine aminopropyltransferase"
                     /codon_start=1
                     /product="spermine synthase isoform 1"
                     /protein_id="NP_004586.2"
                     /db_xref="CCDS:CCDS14203.1"
                     /db_xref="GeneID:6611"
                     /db_xref="HGNC:HGNC:11123"
                     /db_xref="MIM:300105"
                     /translation="MAAARHSTLDFMLGAKADGETILKGLQSIFQEQGMAESVHTWQD
                     HGYLATYTNKNGSFANLRIYPHGLVLLDLQSYDGDAQGKEEIDSILNKVEERMKELSQ
                     DSTGRVKRLPPIVRGGAIDRYWPTADGRLVEYDIDEVVYDEDSPYQNIKILHSKQFGN
                     ILILSGDVNLAESDLAYTRAIMGSGKEDYTGKDVLILGGGDGGILCEIVKLKPKMVTM
                     VEIDQMVIDGCKKYMRKTCGDVLDNLKGDCYQVLIEDCIPVLKRYAKEGREFDYVIND
                     LTAVPISTSPEEDSTWEFLRLILDLSMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGR
                     LYCPVEFSKEIVCVPSYLELWVFYTVWKKAKP"
     exon            166..286
                     /gene="SMS"
                     /gene_synonym="MRSR; MRXSSR; SPMSY; SpS; SRS"
                     /inference="alignment:Splign:2.1.0"
     exon            287..380
                     /gene="SMS"
                     /gene_synonym="MRSR; MRXSSR; SPMSY; SpS; SRS"
                     /inference="alignment:Splign:2.1.0"
     exon            381..445
                     /gene="SMS"
                     /gene_synonym="MRSR; MRXSSR; SPMSY; SpS; SRS"
                     /inference="alignment:Splign:2.1.0"
     exon            446..621
                     /gene="SMS"
                     /gene_synonym="MRSR; MRXSSR; SPMSY; SpS; SRS"
                     /inference="alignment:Splign:2.1.0"
     exon            622..776
                     /gene="SMS"
                     /gene_synonym="MRSR; MRXSSR; SPMSY; SpS; SRS"
                     /inference="alignment:Splign:2.1.0"
     exon            777..866
                     /gene="SMS"
                     /gene_synonym="MRSR; MRXSSR; SPMSY; SpS; SRS"
                     /inference="alignment:Splign:2.1.0"
     exon            867..981
                     /gene="SMS"
                     /gene_synonym="MRSR; MRXSSR; SPMSY; SpS; SRS"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1061
                     /gene="SMS"
                     /gene_synonym="MRSR; MRXSSR; SPMSY; SpS; SRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1062..1177
                     /gene="SMS"
                     /gene_synonym="MRSR; MRXSSR; SPMSY; SpS; SRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1178..1703
                     /gene="SMS"
                     /gene_synonym="MRSR; MRXSSR; SPMSY; SpS; SRS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1683..1688
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMS"
                     /gene_synonym="MRSR; MRXSSR; SPMSY; SpS; SRS"
                     /note="hexamer: ATTAAA"
     polyA_site      1703
                     /gene="SMS"
                     /gene_synonym="MRSR; MRXSSR; SPMSY; SpS; SRS"
                     /note="major polyA site"
ORIGIN      
        1 agtcctggcc tccccgggcg cagcacactc ccagccggcc gcagcctgac acgccgcgcg
       61 gccccccagt ctcccgcggc tgctccccca ggcatggcac agggcctcgc ctcactatgg
      121 cagcagcacg gcacagcacg ctcgacttca tgctcggcgc caaagctgat ggtgagacca
      181 ttctaaaagg cctccagtcc attttccagg agcaggggat ggcggagtcg gtgcacacct
      241 ggcaggacca tggctattta gcaacctaca caaacaagaa cggcagcttt gccaatttga
      301 gaatttaccc acatggattg gtgttgctgg accttcagag ttatgatggt gatgcgcaag
      361 gcaaagaaga gatcgacagt attttgaaca aagtagagga aagaatgaaa gaattgagtc
      421 aggacagtac tgggcgggtg aaacgattac cacccatagt gcgaggagga gccatcgaca
      481 gatactggcc caccgccgac gggcgcctgg ttgaatatga catagatgaa gtggtatatg
      541 acgaagattc accttatcaa aatataaaaa ttctacactc gaagcagttt ggaaatattc
      601 tcatccttag tggggatgtt aatttggcag agagtgattt ggcatatacc cgggccatca
      661 tgggcagtgg caaagaagat tacactggca aagatgtact cattctggga ggtggagacg
      721 gaggcatatt gtgtgaaata gtcaaactaa aaccaaagat ggtcactatg gtagagattg
      781 accaaatggt gattgatggg tgtaagaaat acatgcgaaa aacgtgtggc gatgtcttag
      841 acaatcttaa aggagactgc tatcaggttc taatagaaga ctgtatcccg gtactgaaga
      901 ggtacgccaa agaagggaga gaatttgatt atgtgattaa tgatttgaca gctgttccaa
      961 tctccacgtc tccagaagaa gattccacat gggagtttct cagactgatt cttgacctct
     1021 caatgaaagt gttgaaacag gatgggaaat attttacaca ggggaactgt gtcaatctga
     1081 cagaagcact gtcgctctat gaagaacagc tggggcgcct gtattgtcct gtggaatttt
     1141 caaaggagat cgtctgtgtc ccttcatact tggaattgtg ggtattttac actgtttgga
     1201 agaaagctaa accctgaaga tcagtagccc ctaatcacat gtgctgcaaa tagccttcct
     1261 gacctccata tgctgtacat gacatcaaaa tgagtcaggc aattgattgt gaattcctta
     1321 aagttttcct ttttttaata attattttta atttaaaaaa gcaaatggaa aatgtatatt
     1381 ttgatgagct tagggtgttt tttttttgaa agtcagctga aggatggtta gacagcacag
     1441 cgaagactgc taaatgcact gacccccccc attagaatgt gatttttgtt cctttttatt
     1501 tctctgtggg cttttgtttt tgtttttgtt ttggtagatc ttcaatttgg atatttggag
     1561 gagtgaacat cgttgttttg ctggagggaa gatcttgatg gtgtttcttt ccccaaaaat
     1621 tgacttagat attaaaattt ggtgcttata agagagagtt aaaaaaaaat aggattgctt
     1681 caattaaaat tacaaaagag aca
//
