ENOSF1
Enolase Superfamily Member 1
Gene Information Card
| Symbol | ENOSF1 |
|---|---|
| Full Name | Enolase Superfamily Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 18q21.2 |
| NCBI Gene ID | 55556 ncbi.nlm.nih.gov/gene/55556 |
| Ensembl ID | ENSG00000141480 |
| UniProt ID | Q7L5Y9 |
| OMIM ID | 610297 |
| HGNC ID | 29895 |
| Aliases | MSTP145, C18orf36 |
Description
ENOSF1 (enolase superfamily member 1) is a protein-coding gene located on chromosome 18q21.2. The encoded protein belongs to the enolase superfamily and is involved in the regulation of thymidylate synthase (TYMS) expression. ENOSF1 produces multiple transcript variants through alternative splicing, and its expression is associated with cellular response to folate metabolism and chemotherapeutic agents. The gene has been implicated in various cancers and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered ENOSF1 expression may modulate TYMS activity, affecting 5-fluorouracil sensitivity. | PMID: 21901159; COSMIC mutations observed in colorectal tumors. |
| Breast Cancer | ENOSF1 variants associated with TYMS regulation and chemotherapy response. | PMID: 23233719; ClinVar variant rs2612091. |
| Folate Metabolism Disorders | ENOSF1 influences thymidylate synthase levels, impacting nucleotide synthesis. | OMIM 610297; NCBI GeneRIF. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Colon | 5.4 | Low |
| Breast | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cell line |
| HeLa | 7.8 | Cervical cancer cell line |
| MCF7 | 6.5 | Breast cancer cell line |
| HCT116 | 5.9 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% (gnomAD) | Unknown functional impact; reported in ClinVar. |
| c.457G>A (p.Val153Ile) | Missense | <0.01% | Likely benign. |
| rs2612091 (intronic) | Intronic variant | ~5% (European) | Associated with TYMS expression and chemotherapy response. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ENOSF1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • enolase activity (GO:0004634) | • magnesium ion binding (GO:0000287) |
| • regulation of thymidylate synthase activity (GO:0036018) | • cytoplasm (GO:0005737) |
Pathways
• Folate metabolism (Reactome: R-HSA-196757)
• Pyrimidine metabolism (KEGG: hsa00240)
Protein Summary
The ENOSF1 protein (UniProt Q7L5Y9) is a 434-amino acid member of the enolase superfamily. It localizes to the cytoplasm and is thought to regulate thymidylate synthase (TYMS) expression post-transcriptionally. The protein contains a conserved enolase-like domain and binds magnesium ions. Alternative splicing yields multiple isoforms with potential tissue-specific functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENOSF1 Knockout HEK293 Cell Line | EDJ-KQ13288 | Human | 55556 | Details Get a Quote |
| ENOSF1 Knockout A-549 Cell Line | EDJ-KQ41493 | Human | 55556 | Details Get a Quote |
| ENOSF1 Knockout HCT 116 Cell Line | EDJ-KQ42724 | Human | 55556 | Details Get a Quote |
| ENOSF1 Knockout HeLa Cell Line | EDJ-KQ42725 | Human | 55556 | Details Get a Quote |
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