SMS Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | SMS |
| Official Name | spermine synthase [Source:HGNC Symbol;Acc:HGNC:11123] |
| Ensembl ID | ENSG00000102172 |
| Bio databases IDs | |
| Aliases | spermine synthase |
| Synonyms | AI427066, Gy, gyro, MRSR, MRXSSR, SPERMIDINE AMINOPROPYLTRANSFERASE, Spermine synthase, SpmST, SPMSY, SpS, SPSY, SRS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SMS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- spermine synthase
- Spermidine synthase tetramerization domain
- spermidine synthase
- enzyme
- AdoMet_MTases
- S-adenosylmethionine decarboxylase N -terminal
- Spermine/spermidine synthase domain
Pathways
Biological processes and signaling networks where the SMS gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- organismal death
- prostate cancer
- Snyder-Robinson type syndromic X-linked mental retardation
- hereditary disorder
- mental retardation
- Smith-Magenis syndrome
- pancreatic cancer
- prostatic intraepithelial neoplasm
- prostatic intraepithelial neoplasia
role in cell
- proliferation
- migration
- phosphorylation in
- enzalutamide resistance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- spermine biosynthetic process
- polyamine metabolic process
- methionine metabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytosol
Molecular Function
What the gene product does at the molecular level
- spermine synthase activity