Sms spermine synthase [Mus musculus (house mouse)] - Gene

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, Nov 2024]
Expression: Broad expression in CNS E18 (RPKM 29.5), whole brain E14.5 (RPKM 21.3) and 20 other tissues See more
Orthologs: human all
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Genomic context

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_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

alpha-difluoromethylornithine treatment of control mice or Gy-CAG/SpmS had no effect on balance
Title: Spermine synthase deficiency leads to deafness and a profound sensitivity to alpha-difluoromethylornithine.
regulation of spermine synthase content is not required for spermine synthesis, which is needed for normal growth, viability, and fertility in male mice
Title: Spermine synthesis is required for normal viability, growth, and fertility in the mouse.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6)
Targeted (1)

General gene information

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Markers

Sms (e-PCR), detects polymorphism
- UniSTS:531489

Sms (e-PCR), detects polymorphism
- UniSTS:144445

Sms (e-PCR), detects polymorphism
- UniSTS:144446

Sms (e-PCR), detects polymorphism
- UniSTS:144447

Sms (e-PCR), detects polymorphism
- UniSTS:144448

Sms (e-PCR), detects polymorphism
- UniSTS:144449

Sms (e-PCR), detects polymorphism
- UniSTS:547145

AI427066 (e-PCR)
- UniSTS:181344

AW524902 (e-PCR)
- UniSTS:244664

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

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Preferred Names: spermine synthase

Names: spermidine aminopropyltransferase

NP_001346114.1

EC 2.5.1.22

NP_033240.3

EC 2.5.1.22

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.