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    ENO1 enolase 1 [ Homo sapiens (human) ]

    Gene ID: 2023, updated on 7-Apr-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
    NEW
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (8861000..8878686, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (8394464..8412155, complement)
    105.20220307 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
    • 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)

    NEW Try the new Transcript table

    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_2023_10

    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)