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ENO1 enolase 1 [ Homo sapiens (human) ]

Gene ID: 2023, updated on 3-Nov-2024

Summary

Official Symbol
ENO1provided by HGNC
Official Full Name
enolase 1provided by HGNC
Primary source
HGNC:HGNC:3350
See related
Ensembl:ENSG00000074800 MIM:172430; AllianceGenome:HGNC:3350
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NNE; PPH; MPB1; ENO1L1; ENO1-IT1; HEL-S-17
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 213.0), esophagus (RPKM 188.5) and 25 other tissues See more
Orthologs
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Genomic context

See ENO1 in Genome Data Viewer
Location:
1p36.23
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (8861000..8878686, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (8394464..8412155, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (8921059..8938745, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene arginine-glutamic acid dipeptide repeats Neighboring gene Sharpr-MPRA regulatory region 4622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 201 Neighboring gene Sharpr-MPRA regulatory region 7894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 203 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:8881999-8882222 Neighboring gene ribosomal protein L27 pseudogene Neighboring gene ribosomal protein L23a pseudogene 19 Neighboring gene Sharpr-MPRA regulatory region 9811 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8925615-8926450 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:8933339-8934538 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:8937582-8938174 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:8938175-8938768 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:8938769-8939360 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:8943543-8944262 Neighboring gene RNA, U6 small nuclear 304, pseudogene Neighboring gene ENO1 antisense RNA 1 Neighboring gene microRNA 6728

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify alpha unit of enolase 1 (ENO1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify alpha unit of enolase 1 (ENO1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef HIV-1 Nef downregulates the expression of enolase 1 (ENO1) protein in Nef-transfected SupT1 cells PubMed
nef Tandem affinity purification and mass spectrometry analysis identify alpha unit of enolase 1 (ENO1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify alpha unit of enolase 1 (ENO1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Tat tat MBP-1 suppresses transcription from the HIV-1 LTR promoter, an effect that is inhibited by HIV-1 Tat, suggesting an important role for MBP-1 in the regulation of HIV-1 replication in infected cells PubMed
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human enolase 1, alpha (ENO1) at amino acid residues 115-116 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in canonical glycolysis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in canonical glycolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in canonical glycolysis TAS
Traceable Author Statement
more info
 
involved_in gluconeogenesis TAS
Traceable Author Statement
more info
 
involved_in glycolytic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of ATP biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of ATP biosynthetic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of muscle contraction IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of plasminogen activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to virus IEP
Inferred from Expression Pattern
more info
PubMed 

General protein information

Preferred Names
alpha-enolase; c-myc promoter-binding protein-1
Names
2-phospho-D-glycerate hydro-lyase
ENO1 intronic transcript 1
ENO1 intronic transcript 1 (non-protein coding)
MYC promoter-binding protein 1
alpha enolase like 1
enolase 1, (alpha)
enolase-alpha
epididymis secretory protein Li 17
non-neural enolase
phosphopyruvate hydratase
plasminogen-binding protein
tau-crystallin
NP_001188412.1
NP_001340275.1
NP_001419.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029470.1 RefSeqGene

    Range
    5407..23093
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1165

mRNA and Protein(s)

  1. NM_001201483.4NP_001188412.1  c-myc promoter-binding protein-1 isoform MBP-1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs at the 5' end compared to variant 1, and initiates translation from a downstream in-frame start codon, resulting in a shorter isoform (MBP-1). This isoform is localized to the nucleus, and functions as a transcriptional repressor of c-myc protooncogene by binding to its promoter (PMID:20849415).
    Source sequence(s)
    AL139415, BC001810, GU170215
    UniProtKB/TrEMBL
    E2DRY6
    Related
    ENST00000464920.2
    Conserved Domains (2) summary
    PLN00191
    Location:1339
    PLN00191; enolase
    cd03313
    Location:1323
    enolase; Enolase: Enolases are homodimeric enzymes that catalyse the reversible dehydration of 2-phospho-D-glycerate to phosphoenolpyruvate as part of the glycolytic and gluconeogenesis pathways. The reaction is facilitated by the presence of metal ions.
  2. NM_001353346.3NP_001340275.1  alpha-enolase isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL139415, BC001810, DA820724, GU170215
    Consensus CDS
    CCDS85924.1
    UniProtKB/TrEMBL
    A0A2R8Y6G6
    Related
    ENSP00000495530.1, ENST00000647408.1
    Conserved Domains (1) summary
    PLN00191
    Location:2432
    PLN00191; enolase
  3. NM_001428.5NP_001419.1  alpha-enolase isoform 1

    See identical proteins and their annotated locations for NP_001419.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform (1), which is localized to the cytosol, and has alpha-enolase activity. It has been reported that the monomeric form of this isoform functions as a structural lens protein (tau-crystallin), and the dimeric form as an enolase (PMID:2462567).
    Source sequence(s)
    AK309177, BC021166
    Consensus CDS
    CCDS97.1
    UniProtKB/Swiss-Prot
    B2RD59, P06733, P22712, Q16704, Q4TUS4, Q53FT9, Q53HR3, Q658M5, Q6GMP2, Q71V37, Q7Z3V6, Q8WU71, Q96GV1, Q9BT62, Q9UCH6, Q9UM55
    UniProtKB/TrEMBL
    A0A024R4F1, A0A0K0K1K8
    Related
    ENSP00000234590.4, ENST00000234590.10
    Conserved Domains (1) summary
    PLN00191
    Location:2432
    PLN00191; enolase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    8861000..8878686 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    8394464..8412155 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)