ODC1 Gene: Ornithine Decarboxylase 1 - Function, Disease Associations, and Expression
Comprehensive biomedical overview of ODC1, including genomic context, protein function, expression profiles, and clinical significance.
Gene Information Card
| Symbol | ODC1 |
|---|---|
| Full Name | Ornithine decarboxylase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p25.3 (GRCh38) |
| NCBI Gene ID | 4953 ncbi.nlm.nih.gov/gene/4953 |
| Ensembl ID | ENSG00000115758 |
| UniProt ID | P11926 |
| OMIM ID | 165640 |
| HGNC ID | 8109 |
| Aliases | ODC, NODC |
Description
ODC1 encodes ornithine decarboxylase, the rate-limiting enzyme in the polyamine biosynthesis pathway. It catalyzes the decarboxylation of ornithine to produce putrescine, which is a precursor for spermidine and spermine. Polyamines are essential for cell growth and differentiation. ODC1 expression is tightly regulated at transcriptional, translational, and post-translational levels. Overexpression is associated with tumorigenesis and is a target for cancer therapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression of ODC1 leads to increased polyamine synthesis, promoting cell proliferation and tumor growth. | COSMIC; multiple studies (e.g., PMID: 12368280) |
| Familial adenomatous polyposis (FAP) | ODC1 activity is elevated in colorectal adenomas; genetic variants may influence polyamine levels and cancer risk. | ClinVar; PMID: 15122587 |
| Neurological disorders (e.g., epilepsy) | Altered polyamine metabolism may affect neuronal excitability; ODC1 expression changes in response to seizures. | PMID: 10508886 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | High (nTPM ~ 50) | High expression |
| Testis | High (nTPM ~ 40) | High expression |
| Small intestine | Medium (nTPM ~ 20) | Medium expression |
| Liver | Medium (nTPM ~ 15) | Medium expression |
| Brain | Low (nTPM ~ 5) | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High (nTPM ~ 30) | Cervical cancer cell line |
| MCF7 | Medium (nTPM ~ 15) | Breast cancer cell line |
| A549 | Medium (nTPM ~ 12) | Lung cancer cell line |
| HepG2 | Low (nTPM ~ 5) | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | Rare (0.01%) | May affect enzyme activity; not well characterized |
| c.456C>T (p.Ser152Ser) | Synonymous | Common (5%) | No known effect |
| c.789G>A (p.Arg263His) | Missense | Rare (0.02%) | Potential impact on protein stability; not clinically significant |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ODC1 are rare and may lead to reduced polyamine synthesis, potentially affecting cell growth. No specific pathogenic variants have been reported in ClinVar.
Gain of Function (GOF)
Gain-of-function mutations are not well documented; however, gene amplification or overexpression is common in cancers, leading to increased enzyme activity.
Dominant Negative (DN)
No dominant-negative mutations have been reported for ODC1.
View complete mutation data：
Gene Ontology (GO)
| • Ornithine decarboxylase activity (GO:0004586) | • Carboxy-lyase activity (GO:0016831) |
| • Pyridoxal phosphate binding (GO:0030170) | • Cytoplasm (GO:0005737) |
| • Polyamine biosynthetic process (GO:0006596) |
Pathways
• Polyamine biosynthesis (Reactome: R-HSA-351202)
• Metabolism of polyamines (KEGG: map00330)
Protein Summary
ODC1 is a homodimeric enzyme that requires pyridoxal phosphate as a cofactor. It is rapidly degraded by the 26S proteasome in an antizyme-dependent manner. The protein is involved in cell proliferation and differentiation. Its expression is induced by growth factors and oncogenes. Inhibitors like DFMO (eflornithine) are used in cancer therapy and chemoprevention.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ODC1 Knockout HEK293 Cell Line | EDJ-KQ943 | Human | 4953 | Details Get a Quote |
| ODC1 Knockout A-549 Cell Line | EDJ-KQ19926 | Human | 4953 | Details Get a Quote |
| ODC1 Knockout HCT 116 Cell Line | EDJ-KQ19927 | Human | 4953 | Details Get a Quote |
| ODC1 Knockout HeLa Cell Line | EDJ-KQ19928 | Human | 4953 | Details Get a Quote |
| ODC1（p.G357E） Point Mutation in Cell Line | EDC90086 | Human | 4953 | Details Get a Quote |
| ODC1（p.G357E） Point Mutation in A-549 Cell Line | EDC90070 | Human | 4953 | Details Get a Quote |
Displaying Records 1 To 6 Of 6 Records
