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SMS spermine synthase [ Homo sapiens (human) ]

Gene ID: 6611, updated on 7-Dec-2018

Summary

Official Symbol
SMSprovided by HGNC
Official Full Name
spermine synthaseprovided by HGNC
Primary source
HGNC:HGNC:11123
See related
Ensembl:ENSG00000102172 MIM:300105
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SRS; SpS; MRSR; SPMSY
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]
Expression
Ubiquitous expression in prostate (RPKM 40.6), placenta (RPKM 32.9) and 24 other tissues See more
Orthologs

Genomic context

See SMS in Genome Data Viewer
Location:
Xp22.11
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (21940573..21994837)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (21958691..22025798)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene cytohesin 1 pseudogene Neighboring gene membrane bound transcription factor peptidase, site 2 Neighboring gene YY2 transcription factor Neighboring gene phosphate regulating endopeptidase homolog X-linked Neighboring gene PHEX antisense RNA 1 Neighboring gene PTCHD1 antisense RNA (head to head) Neighboring gene Cbl proto-oncogene like 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Snyder Robinson syndrome
MedGen: C0796160 OMIM: 309583 GeneReviews: Snyder-Robinson Syndrome
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-08-23)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-08-23)

ClinGen Genome Curation PagePubMed

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
spermine synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermine synthase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
methionine metabolic process TAS
Traceable Author Statement
more info
PubMed 
polyamine metabolic process TAS
Traceable Author Statement
more info
 
spermine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
spermine synthase
Names
spermidine aminopropyltransferase
NP_001245352.1
NP_004586.2
XP_005274639.1
XP_011543870.1
XP_016885242.1
XP_016885243.1
XP_016885244.1
XP_024308195.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_009228.1 RefSeqGene

    Range
    4850..59114
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001258423.1NP_001245352.1  spermine synthase isoform 2

    See identical proteins and their annotated locations for NP_001245352.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    U53331, U73023
    Consensus CDS
    CCDS59161.1
    UniProtKB/Swiss-Prot
    P52788
    Related
    ENSP00000368714.1, ENST00000379404.5
    Conserved Domains (1) summary
    pfam01564
    Location:67313
    Spermine_synth; Spermine/spermidine synthase
  2. NM_004595.5NP_004586.2  spermine synthase isoform 1

    See identical proteins and their annotated locations for NP_004586.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AD001528, BC009898, U73023
    Consensus CDS
    CCDS14203.1
    UniProtKB/Swiss-Prot
    P52788
    Related
    ENSP00000385746.2, ENST00000404933.6
    Conserved Domains (1) summary
    pfam01564
    Location:120366
    Spermine_synth; Spermine/spermidine synthase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    21940573..21994837
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029753.2XP_016885242.1  spermine synthase isoform X1

  2. XM_017029755.1XP_016885244.1  spermine synthase isoform X2

  3. XM_011545568.2XP_011543870.1  spermine synthase isoform X3

    See identical proteins and their annotated locations for XP_011543870.1

    Conserved Domains (1) summary
    pfam01564
    Location:86332
    Spermine_synth; Spermine/spermidine synthase
  4. XM_005274582.2XP_005274639.1  spermine synthase isoform X3

    See identical proteins and their annotated locations for XP_005274639.1

    Conserved Domains (1) summary
    pfam01564
    Location:86332
    Spermine_synth; Spermine/spermidine synthase
  5. XM_017029754.1XP_016885243.1  spermine synthase isoform X2

  6. XM_024452427.1XP_024308195.1  spermine synthase isoform X3

    Conserved Domains (1) summary
    pfam01564
    Location:86332
    Spermine_synth; Spermine/spermidine synthase
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