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    Sms spermine synthase [ Mus musculus (house mouse) ]

    Gene ID: 20603, updated on 18-Sep-2024

    Summary

    Official Symbol
    Smsprovided by MGI
    Official Full Name
    spermine synthaseprovided by MGI
    Primary source
    MGI:MGI:109490
    See related
    Ensembl:ENSMUSG00000071708 AllianceGenome:MGI:109490
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gy; gyro; SPMSY; SpmST
    Summary
    Predicted to enable spermine synthase activity. Acts upstream of or within spermine metabolic process. Is expressed in several structures, including central nervous system; ganglia; limb; respiratory system; and tooth. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability Snyder type. Orthologous to human SMS (spermine synthase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E18 (RPKM 29.5), whole brain E14.5 (RPKM 21.3) and 20 other tissues See more
    Orthologs
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    Genomic context

    See Sms in Genome Data Viewer
    Location:
    X F4; X 72.48 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (156226847..156275283, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (157443851..157492287, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene phosphate regulating endopeptidase homolog, X-linked Neighboring gene aldolase B, fructose-bisphosphate pseudogene Neighboring gene predicted gene, 24281 Neighboring gene STARR-seq mESC enhancer starr_48152 Neighboring gene mitochondrial import receptor subunit TOM5 homolog Neighboring gene DnaJ (Hsp40) homolog, subfamily B, member 9 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (6) 
    • Targeted (1) 

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables spermine synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables spermine synthase activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in spermine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spermine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermine biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within spermine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    spermine synthase
    Names
    spermidine aminopropyltransferase
    NP_001346114.1
    NP_033240.3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001359185.1NP_001346114.1  spermine synthase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL663072
      Conserved Domains (1) summary
      pfam01564
      Location:86332
      Spermine_synth; Spermine/spermidine synthase
    2. NM_009214.4NP_033240.3  spermine synthase isoform 1

      See identical proteins and their annotated locations for NP_033240.3

      Status: VALIDATED

      Source sequence(s)
      AL663072, BC058688
      Consensus CDS
      CCDS41189.1
      UniProtKB/Swiss-Prot
      A2AC82, P97355, Q3TL65, Q3TUP0, Q3UDT8, Q8C7P4, Q9CT09, Q9R282
      Related
      ENSMUSP00000108148.2, ENSMUST00000112529.8
      Conserved Domains (1) summary
      pfam01564
      Location:120366
      Spermine_synth; Spermine/spermidine synthase

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      156226847..156275283 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)