Endometriosis Knowledgebase

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Gene id

2023

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

ENO1 Gene UCSC Ensembl

Aliases

ENO1L1, HEL-S-17, MPB1, NNE, PPH

Gene name

enolase 1

Alternate names

alpha-enolase, c-myc promoter-binding protein-1, 2-phospho-D-glycerate hydro-lyase, MYC promoter-binding protein 1, alpha enolase like 1, enolase 1, (alpha), enolase-alpha, epididymis secretory protein Li 17, non-neural enolase, phosphopyruvate hydratase, plasminog,

Gene location

1p36.23 (8879091: 8860999) Exons: 13 NC_000001.11

Gene summary(Entrez)

This gene encodes alpha-enolase, one of three enolase isoenzymes found in mammals. Each isoenzyme is a homodimer composed of 2 alpha, 2 gamma, or 2 beta subunits, and functions as a glycolytic enzyme. Alpha-enolase in addition, functions as a structural lens protein (tau-crystallin) in the monomeric form. Alternative splicing of this gene results in a shorter isoform that has been shown to bind to the c-myc promoter and function as a tumor suppressor. Several pseudogenes have been identified, including one on the long arm of chromosome 1. Alpha-enolase has also been identified as an autoantigen in Hashimoto encephalopathy. [provided by RefSeq, Jan 2011]

OMIM

172430

Protein Summary

Protein general information

P06733

Name: Alpha enolase (EC 4.2.1.11) (2 phospho D glycerate hydro lyase) (C myc promoter binding protein) (Enolase 1) (MBP 1) (MPB 1) (Non neural enolase) (NNE) (Phosphopyruvate hydratase) (Plasminogen binding protein)

Length: 434 Mass: 47,169

Tissue specificity: The alpha/alpha homodimer is expressed in embryo and in most adult tissues. The alpha/beta heterodimer and the beta/beta homodimer are found in striated muscle, and the alpha/gamma heterodimer and the gamma/gamma homodimer in neurons.

Sequence

MSILKIHAREIFDSRGNPTVEVDLFTSKGLFRAAVPSGASTGIYEALELRDNDKTRYMGKGVSKAVEHINKTIAP
ALVSKKLNVTEQEKIDKLMIEMDGTENKSKFGANAILGVSLAVCKAGAVEKGVPLYRHIADLAGNSEVILPVPAF
NVINGGSHAGNKLAMQEFMILPVGAANFREAMRIGAEVYHNLKNVIKEKYGKDATNVGDEGGFAPNILENKEGLE
LLKTAIGKAGYTDKVVIGMDVAASEFFRSGKYDLDFKSPDDPSRYISPDQLADLYKSFIKDYPVVSIEDPFDQDD
WGAWQKFTASAGIQVVGDDLTVTNPKRIAKAVNEKSCNCLLLKVNQIGSVTESLQACKLAQANGWGVMVSHRSGE
TEDTFIADLVVGLCTGQIKTGAPCRSERLAKYNQLLRIEEELGSKAKFAGRNFRNPLAK

Structural information

Interpro:	IPR000941 IPR034390 IPR020810 IPR029065 IPR020809 IPR020811 IPR029017
Prosite:	PS00164
Pfam:	PF00113 PF03952
CDD:	cd03313
PDB:	2PSN 3B97 5JLZ 5LAX
PDBsum:	2PSN 3B97 5JLZ 5LAX
MINT:	155303
STRING:	ENSP00000234590;

Other Databases

GeneCards: ENO1; Malacards: ENO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000015	phosphopyruvate hydratase complex	IEA	cellular_component
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0000287	magnesium ion binding	IEA	molecular_function
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003714	transcription corepressor activity	TAS	molecular_function
GO:0004634	phosphopyruvate hydratase activity	TAS	molecular_function
GO:0004634	phosphopyruvate hydratase activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005634	nucleus	IC	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006094	gluconeogenesis	TAS	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0016020	membrane	IDA	cellular_component
GO:0019897	extrinsic component of pl asma membrane	IEA	cellular_component
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0031430	M band	IEA	cellular_component
GO:0043209	myelin sheath	IEA	cellular_component
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0051020	GTPase binding	IPI	molecular_function
GO:0051099	positive regulation of bi nding	IEA	biological_process
GO:0061621	canonical glycolysis	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0000015	phosphopyruvate hydratase complex	IEA	cellular_component
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0000287	magnesium ion binding	IEA	molecular_function
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003714	transcription corepressor activity	TAS	molecular_function
GO:0003723	RNA binding	IEA	molecular_function
GO:0004634	phosphopyruvate hydratase activity	IEA	molecular_function
GO:0004634	phosphopyruvate hydratase activity	IEA	molecular_function
GO:0004634	phosphopyruvate hydratase activity	IEA	molecular_function
GO:0004634	phosphopyruvate hydratase activity	TAS	molecular_function
GO:0004634	phosphopyruvate hydratase activity	TAS	molecular_function
GO:0004634	phosphopyruvate hydratase activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IC	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0006094	gluconeogenesis	TAS	biological_process
GO:0006096	glycolytic process	IEA	biological_process
GO:0006096	glycolytic process	IEA	biological_process
GO:0006096	glycolytic process	IEA	biological_process
GO:0006096	glycolytic process	IEA	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IDA	cellular_component
GO:0016829	lyase activity	IEA	molecular_function
GO:0019897	extrinsic component of pl asma membrane	IEA	cellular_component
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0031430	M band	IEA	cellular_component
GO:0043209	myelin sheath	IEA	cellular_component
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0051020	GTPase binding	IPI	molecular_function
GO:0051099	positive regulation of bi nding	IEA	biological_process
GO:0061621	canonical glycolysis	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003714	transcription corepressor activity	TAS	molecular_function
GO:0004634	phosphopyruvate hydratase activity	TAS	molecular_function
GO:0004634	phosphopyruvate hydratase activity	TAS	molecular_function
GO:0004634	phosphopyruvate hydratase activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005634	nucleus	IC	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006094	gluconeogenesis	TAS	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0016020	membrane	IDA	cellular_component
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0051020	GTPase binding	IPI	molecular_function
GO:0061621	canonical glycolysis	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component

KEGG pathways

hsa01100  Metabolic pathways
hsa04066  HIF-1 signaling pathway
hsa01200  Carbon metabolism
hsa01230  Biosynthesis of amino acids
hsa00010  Glycolysis / Gluconeogenesis
hsa03018  RNA degradation

Diseases

Associated diseases	References
Endometrial cancer	PMID: 22415234
Endometriosis	PMID: 24283984
Enolase deficiency	OMIM: 172430
Myocardial infarction	PMID: 18682748
Premature ovarian failure ( POF)	PMID: 17121525
Spermatogenetic defects	PMID: 24524831

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
24283984	Endometrio sis			59 (39 patients with histologi cally confirmed endometriosis, 20 patients wi thout endometri osis)	Female infertility	EnolaseI CA-125	Show abstract