SMS

Protein identityUniProt · HPA

UniProt accession

P52788

Gene

SMS

Ensembl

ENSG00000102172

Chromosome

X

Canonical length

366 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins

Subcellular location

Nuclear bodies,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

366 residues, UniProt reviewed canonical sequence.

>P52788|SMS
     1  MAAARHSTLD FMLGAKADGE TILKGLQSIF QEQGMAESVH TWQDHGYLAT YTNKNGSFAN
    61  LRIYPHGLVL LDLQSYDGDA QGKEEIDSIL NKVEERMKEL SQDSTGRVKR LPPIVRGGAI
   121  DRYWPTADGR LVEYDIDEVV YDEDSPYQNI KILHSKQFGN ILILSGDVNL AESDLAYTRA
   181  IMGSGKEDYT GKDVLILGGG DGGILCEIVK LKPKMVTMVE IDQMVIDGCK KYMRKTCGDV
   241  LDNLKGDCYQ VLIEDCIPVL KRYAKEGREF DYVINDLTAV PISTSPEEDS TWEFLRLILD
   301  LSMKVLKQDG KYFTQGNCVN LTEALSLYEE QLGRLYCPVE FSKEIVCVPS YLELWVFYTV
   361  WKKAKP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SMS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

128 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SMS.

Disease | AllUniProt

Conditions SMS is implicated in, by any mechanism.

• Intellectual developmental disorder, X-linked, syndromic, Snyder-Robinson type (MRXSSR) MIM:309583

Disease | GeneticClinVar

32 pathogenic / likely-pathogenic of 261 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Syndromic X-linked intellectual disability Snyder type
• Inborn genetic diseases
• SMS-related disorder
• Nonpapillary renal cell carcinoma
• Smith-Magenis syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.31

gnomAD pLI

0.97

gnomAD missense Z

2.32

DepMap mean gene effect

-0.41

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• methionine metabolic process
• polyamine metabolic process
• spermine biosynthetic process

Molecular functions

• spermine synthase activity

Cellular components

• cytosol
• extracellular exosome

Protein domainsUniProt · Pfam · InterPro

• S-adenosyl-L-methionine-dependent methyltransferase superfamily
• Polyamine biosynthesis domain, conserved site
• Polyamine biosynthesis domain
• Spermidine synthase, tetramerisation domain
• Spermidine synthase, tetramerisation domain superfamily
• Spermine/spermidine synthase domain
• Spermidine synthase tetramerisation domain
• Spermine synthase, animal
• Spermine synthase, N-terminal
• S-adenosylmethionine decarboxylase N -terminal

KeywordsUniProt

• Acetylation
• Intellectual disability
• Phosphoprotein
• Polyamine biosynthesis
• Transferase