2. Gene
  3. SMS - spermine synthase Gene

SMS - spermine synthase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as SRS; SpS; MRSR; SPMSY; MRXSSR

Gene ID: 6611 | Gene type: protein coding

About SMS

Cytogenetic location: Xp22.11 Genomic coordinates (GRCh38): X:21,940,709-21,994,837 (from NCBI)

This gene has 4 transcripts (splice variants), 241 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in prostate (RPKM 40.6), placenta (RPKM 32.9) and 24 other tissues.

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]

SMS Products(2)

mRNA Protein Name
NM_001258423.2 NP_001245352.1 spermine synthase isoform 2
NM_004595.5 NP_004586.2 spermine synthase isoform 1

SMS Protein Structure

Spermine_synth

Spermine_synth: Spermine/spermidine synthase domain (127 - 364)

  • 0
  • 100
  • 200
  • 300
  • 366 a.a.
Protein Preferred Names Protein Names

spermine synthase

spermidine aminopropyltransferase

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type

MRXSSR

Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

Srs

Snyder-Robinson Mental Retardation Syndrome

Intellectual Developmental Disorder, X-Linked Syndromic, Snyder-Robinson Type

X-Linked Intellectual Disability, Snyder Type

Snyder-Robinson Syndrome

Mental Retardation, X-Linked, Snyder-Robinson Type
Syndromic X-Linked Intellectual Disability Snyder Type

Snyder-Robinson Syndrome

Mental Retardation, X-Linked, Snyder-Robinson Type

Spermine Synthase Deficiency

Srs

Snyder-Robinson Mental Retardation Syndrome

X-Linked Intellectual Disability Snyder-Robinson Type

Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

Snyder-Robinson X-Linked Mental Retardation Syndrome
Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p
Serous Labyrinthitis

Acute Serous Labyrinthitis
Microcephaly 1, Primary, Autosomal Recessive

MCPH1

Premature Chromosome Condensation Syndrome

Pcc Syndrome

Primary Autosomal Recessive Microcephaly 1

Microcephaly, Primary Autosomal Recessive, 1

Premature Chromosome Condensation With Microcephaly And Mental Retardation

Microcephaly Vera

True Microcephaly

Microcephaly, Type 1, Primary, Autosomal Recessive

Autosomal Recessive Primary Microcephaly
Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis
Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability
Secondary Progressive Multiple Sclerosis

Secondary-Progressive Ms

Spms

Multiple Sclerosis, Chronic Progressive

Chronic Progressive Multiple Sclerosis

Multiple Sclerosis, Secondary Progressive
Keratosis Follicularis Spinulosa Decalvans

Kfsd

Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi

Keratosis Follicularis Spinulosa Decalvans, X-Linked

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratosis Pilaris Atrophicans

KPA

Burnett Schwartz Berberian Syndrome
Syndromic Intellectual Disability
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Approval
Bioactive Molecules (3)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-P0036 Octreotide 99.64% Unkown
HY-17365 Octreotide acetate Agonist 99.97% Unkown
HY-P0036B Octreotide pamoate / Unkown
Pre-clinical Phase
Bioactive Molecules (12)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-114307 Ly93 Inhibitor 99.88% Unkown
HY-163541 SMS121 Inhibitor 98.75% Unkown
HY-N8518 Malabaricone C Inhibitor 99.61% Unkown
HY-102041 SMS2-IN-1 Inhibitor 98.04% Unkown
HY-19625 MCB-613 Inducer 99.95% Unkown
HY-135642 SMS1-IN-1 Inhibitor 99.76% Unkown
HY-112713 SMS2-IN-2 Inhibitor ≥98.0% Unkown
HY-RS13454 SMS Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-139995 Spermine Prodrug-1 / Unkown
HY-150559 SMS2-IN-3 Inhibitor / Unkown
HY-157730 2-Myristyldistearin / Unkown
HY-165136 Sphingomyelins, milk / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus SMS VGNC VGNC:35035
Macaca mulatta SMS VGNC VGNC:77660
Felis catus SMS VGNC VGNC:97636
Canis familiaris SMS VGNC VGNC:54603
Rattus norvegicus SMS RGD RGD:1564826
Mus musculus SMS MGD MGI:109490
Others SMS NCBI