ENO1 (Enolase 1)
A multifunctional glycolytic enzyme with roles in cancer, autoimmunity, and hypoxia
Gene Information Card
| Symbol | ENO1 |
|---|---|
| Full Name | enolase 1 |
| Gene Type | protein coding |
| Chromosomal Location | 1p36.23 |
| NCBI Gene ID | 2023 ncbi.nlm.nih.gov/gene/2023 |
| Ensembl ID | ENSG00000074800 |
| UniProt ID | P06733 |
| OMIM ID | 172430 |
| HGNC ID | 3350 |
| Aliases | ENO1L1, MPB1, PPH, HEL-S-17 |
Description
ENO1 encodes alpha-enolase, a glycolytic enzyme that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate. Beyond its metabolic function, ENO1 acts as a plasminogen receptor on the cell surface and is involved in hypoxia tolerance, autoimmune responses, and cancer progression. It is also known as a lens crystallin and a heat-shock protein.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression and cell surface localization promote glycolysis and plasminogen activation, enhancing invasion and metastasis. | NCBI Gene, COSMIC |
| Autoimmune encephalitis | Anti-alpha-enolase antibodies target neuronal surface ENO1, leading to synaptic dysfunction. | ClinVar, OMIM |
| Hypoxia-related disorders | ENO1 is upregulated under hypoxia via HIF-1α, contributing to metabolic adaptation. | NCBI Gene |
| Glycogen storage disease type XIII | Rare mutations in ENO1 cause enolase deficiency with hemolytic anemia and neurological symptoms. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 48.5 | High |
| Heart | 42.3 | High |
| Brain | 38.1 | High |
| Lung | 35.7 | High |
| Kidney | 33.2 | High |
| Skeletal muscle | 30.8 | High |
| Pancreas | 28.4 | Medium |
| Spleen | 25.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 62.4 | Cervical cancer cell line; high expression |
| A549 | 55.3 | Lung adenocarcinoma cell line; high expression |
| MCF7 | 48.7 | Breast cancer cell line; high expression |
| K562 | 41.2 | Leukemia cell line; high expression |
| HEK293 | 38.9 | Embryonic kidney cell line; high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | Rare | Reduced enzymatic activity; associated with glycogen storage disease type XIII |
| c.434C>T (p.Pro145Leu) | Missense | Rare | Impaired protein stability; linked to hemolytic anemia |
| c.839A>G (p.Asn280Ser) | Missense | Rare | Decreased plasminogen binding; potential impact on cell migration |
| c.1246C>T (p.Arg416Trp) | Missense | Rare | Loss of catalytic function; neurological symptoms reported |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gly38Arg, p.Arg416Trp) reduce or abolish enolase activity, leading to metabolic deficiency and hemolytic anemia.
Gain of Function (GOF)
Not well documented; overexpression in cancer is considered a gain of function at the expression level rather than mutation-driven.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycolysis / Gluconeogenesis (KEGG: hsa00010)
• HIF-1 signaling pathway (KEGG: hsa04066)
• Plasminogen activating cascade
• Carbon metabolism (KEGG: hsa01200)
Protein Summary
Alpha-enolase is a 47 kDa glycolytic enzyme that exists as a homodimer. It catalyzes the reversible conversion of 2-phosphoglycerate to phosphoenolpyruvate. The protein also functions as a cell surface plasminogen receptor, facilitating fibrinolysis and cell migration. Post-translational modifications include acetylation and phosphorylation. In cancer, ENO1 is often overexpressed and relocalized to the membrane, contributing to the Warburg effect and metastasis. It is also a target of autoantibodies in some neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID |
|---|
