SRM (Spermidine Synthase) Gene
Key enzyme in polyamine biosynthesis, involved in cell growth, differentiation, and cancer
Gene Information Card
| Symbol | SRM |
|---|---|
| Full Name | Spermidine Synthase |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 6723 ncbi.nlm.nih.gov/gene/6723 |
| Ensembl ID | ENSG00000116678 |
| UniProt ID | P19623 |
| OMIM ID | 182891 |
| HGNC ID | 11295 |
| Aliases | SPDSY, SPS, SRM1 |
Description
The SRM gene encodes spermidine synthase, an enzyme that catalyzes the transfer of the aminopropyl group from decarboxylated S-adenosylmethionine to putrescine to form spermidine, a key polyamine essential for cell growth, proliferation, and differentiation. Polyamines are involved in nucleic acid stabilization, translation regulation, and ion channel modulation. SRM is widely expressed and its dysregulation is linked to various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of SRM leads to increased spermidine levels, promoting cell proliferation and tumor growth. | PubMed, COSMIC |
| Polyamine metabolism disorders | Mutations in SRM can alter polyamine homeostasis, contributing to developmental abnormalities. | OMIM |
| Neurodegenerative diseases | Altered spermidine levels are associated with neuronal dysfunction and oxidative stress. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 15.2 | Medium |
| Brain | 12.8 | Medium |
| Liver | 10.1 | Medium |
| Heart | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | High expression |
| HeLa | 14.7 | Medium expression |
| K562 | 12.1 | Medium expression |
| A549 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of function |
| c.287C>T (p.Pro96Leu) | missense | <0.01% | Unknown effect |
| c.512G>A (p.Arg171His) | missense | <0.01% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may reduce enzyme activity, affecting polyamine synthesis.
Gain of Function (GOF)
Not well documented; overexpression in cancer suggests potential gain-of-function via increased spermidine.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • spermidine synthase activity (GO:0004766) | • polyamine biosynthetic process (GO:0006596) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
Pathways
• Polyamine biosynthesis (Reactome: R-HSA-351202)
• Metabolism of polyamines (KEGG: map00330)
Protein Summary
Spermidine synthase is a homodimeric enzyme that catalyzes the conversion of putrescine to spermidine using decarboxylated S-adenosylmethionine as the aminopropyl donor. The protein is approximately 35 kDa and is localized in the cytoplasm. It plays a critical role in maintaining polyamine homeostasis, which is essential for cell cycle progression, apoptosis, and stress responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SRM Knockout HEK293 Cell Line | EDJ-KQ5848 | Human | 6723 | Details Get a Quote |
| SRMS Knockout HEK293 Cell Line | EDJ-KQ5853 | Human | 6725 | Details Get a Quote |
| SRM Knockout A-549 Cell Line | EDJ-KQ28050 | Human | 6723 | Details Get a Quote |
| SRM Knockout HCT 116 Cell Line | EDJ-KQ29313 | Human | 6723 | Details Get a Quote |
| SRM Knockout HeLa Cell Line | EDJ-KQ29314 | Human | 6723 | Details Get a Quote |
| SRMS Knockout HCT 116 Cell Line | EDJ-KQ29322 | Human | 6725 | Details Get a Quote |
| SRMS Knockout HeLa Cell Line | EDJ-KQ54563 | Human | 6725 | Details Get a Quote |
| SRMS Knockout A-549 Cell Line | EDJ-KQ63047 | Human | 6725 | Details Get a Quote |
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