ENO1

enolase 1, the group of MicroRNA protein coding host genes|Enolases

Basic information

Region (hg38): 1:8861000-8879190

Previous symbols: [ "ENO1L1", "MPB1", "ENO1-IT1" ]

Links

ENSG00000074800

∙ NCBI:2023 ∙ OMIM:172430 ∙ HGNC:3350 ∙ Uniprot:P06733 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ENO1 gene.

not_specified (43 variants)
not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENO1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001428.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	1 clinvar	2
missense			43 clinvar			43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	43	1	1

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENO1	protein_coding	protein_coding	ENST00000234590	11	18248

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000191	0.975	125701	0	47	125748	0.000187

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.838	219	257	0.853	0.0000150	2856
Missense in Polyphen		45	73.857	0.60928		1027
Synonymous	-0.228	109	106	1.03	0.00000690	858
Loss of Function	2.03	11	21.1	0.522	0.00000108	245

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000272	0.000272
Finnish	0.000602	0.000601
European (Non-Finnish)	0.000123	0.000123
Middle Eastern	0.000272	0.000272
South Asian	0.000294	0.000294
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Multifunctional enzyme that, as well as its role in glycolysis, plays a part in various processes such as growth control, hypoxia tolerance and allergic responses. May also function in the intravascular and pericellular fibrinolytic system due to its ability to serve as a receptor and activator of plasminogen on the cell surface of several cell-types such as leukocytes and neurons. Stimulates immunoglobulin production.;
Pathway: Glycolysis / Gluconeogenesis - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);RNA degradation - Homo sapiens (human);Warburg Effect;Glycolysis;Glycogenosis, Type VII. Tarui disease;Gluconeogenesis;Glycogenosis, Type IA. Von gierke disease;Glycogenosis, Type IC;Fanconi-bickel syndrome;Glycogen Storage Disease Type 1A (GSD1A) or Von Gierke Disease;Triosephosphate isomerase;Fructose-1,6-diphosphatase deficiency;Phosphoenolpyruvate carboxykinase deficiency 1 (PEPCK1);Glycogenosis, Type IB;Pathways in clear cell renal cell carcinoma;Glycolysis and Gluconeogenesis;Metabolism of carbohydrates;Citrate cycle;Glycolysis Gluconeogenesis;Glycolysis and Gluconeogenesis;Metabolism;Glycolysis;EGFR1;gluconeogenesis;glycolysis;superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle;Notch signaling pathway;Gluconeogenesis;Glucose metabolism;Validated targets of C-MYC transcriptional activation;HIF-1-alpha transcription factor network (Consensus)

Recessive Scores

pRec: 0.123

Intolerance Scores

loftool: 0.774
rvis_EVS: -0.18
rvis_percentile_EVS: 40.16

Haploinsufficiency Scores

pHI: 0.355
hipred: Y
hipred_score: 0.737
ghis: 0.644

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: E
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 1.00

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Eno1
Phenotype: growth/size/body region phenotype; embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Gene ontology

Biological process: negative regulation of transcription by RNA polymerase II;gluconeogenesis;response to virus;positive regulation of plasminogen activation;negative regulation of cell growth;negative regulation of transcription, DNA-templated;positive regulation of muscle contraction;canonical glycolysis;negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway;positive regulation of ATP biosynthetic process
Cellular component: phosphopyruvate hydratase complex;extracellular space;nucleus;cytoplasm;cytosol;plasma membrane;cell surface;membrane;M band;extracellular exosome;cell cortex region
Molecular function: magnesium ion binding;RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription repressor activity, RNA polymerase II-specific;RNA binding;phosphopyruvate hydratase activity;protein binding;protein homodimerization activity;cadherin binding;GTPase binding