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    ENO3 enolase 3 [ Homo sapiens (human) ]

    Gene ID: 2027, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ENO3provided by HGNC
    Official Full Name
    enolase 3provided by HGNC
    Primary source
    HGNC:HGNC:3354
    See related
    Ensembl:ENSG00000108515 MIM:131370; AllianceGenome:HGNC:3354
    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
    MSE; GSD13
    Summary
    This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010]
    Expression
    Biased expression in heart (RPKM 88.5), esophagus (RPKM 45.6) and 2 other tissues See more
    Orthologs
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    Genomic context

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    See ENO3 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4948710..4957129)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4840899..4847443)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4853847..4860424)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11555 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:4843813-4844007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11556 Neighboring gene ring finger protein 167 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4847507-4848050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8057 Neighboring gene profilin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4854946-4855680 Neighboring gene sperm associated antigen 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4868801-4869478 Neighboring gene uncharacterized LOC124900387 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:4870157-4870834 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:4870835-4871511 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:4872157-4873356 Neighboring gene calmodulin binding transcription activator 2 Neighboring gene microRNA 6864

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ENO3 promotes colorectal cancer progression by enhancing cell glycolysis.
      Title: ENO3 promotes colorectal cancer progression by enhancing cell glycolysis.
    2. Enolase 3 (ENO3) overexpression under serine/threonine kinase 11 (STK11) loss-of-function mutations implies that ENO3 might be a selective anticancer target in STK11-mutant cancer.
      Title: Overexpression and Selective Anticancer Efficacy of ENO3 in STK11 Mutant Lung Cancers.
    3. tRK1 forms a complex with human enolases and interacts with tRK1 and human pre-lysyl-tRNA synthetase (preKARS2)
      Title: A Moonlighting Human Protein Is Involved in Mitochondrial Import of tRNA.
    4. Molecular genetic analysis of ENO3 gene revealed two novel homozygous missense mutations, (p.Asn151Ser and p.Glu187Lys)in patients presenting with recurrent rhabdomyolysis.
      Title: Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?
    5. Pyridoxamine and carnosine protected enolase against the total loss of catalytic activity.
      Title: Glycation of the muscle-specific enolase by reactive carbonyls: effect of temperature and the protection role of carnosine, pyridoxamine and phosphatidylserine.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Glycogen storage disease due to muscle beta-enolase deficiency
    MedGen: C2752027 OMIM: 612932 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphopyruvate hydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphopyruvate hydratase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of phosphopyruvate hydratase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    beta-enolase
    Names
    2-phospho-D-glycerate hydrolyase
    enolase 3 (beta, muscle)
    muscle enriched enolase
    muscle-specific enolase
    skeletal muscle enolase
    NP_001180432.1
    NP_001361452.1
    NP_001361453.1
    NP_001967.3
    NP_443739.3
    XP_011522031.1

    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_012063.2 RefSeqGene

      Range
      10029..16039
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193503.2 → NP_001180432.1  beta-enolase isoform 2

      See identical proteins and their annotated locations for NP_001180432.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks two exons in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AK300709, F26358
      Consensus CDS
      CCDS54070.1
      Related
      ENSP00000430636.1, ENST00000519584.5
      Conserved Domains (1) summary
      PLN00191
      Location:2 → 388
      PLN00191; enolase

    2. NM_001374523.1 → NP_001361452.1  beta-enolase isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC004771
      Consensus CDS
      CCDS11062.1
      UniProtKB/Swiss-Prot
      B4DUI6, B4DUM6, D3DTL2, E7ENK8, P13929, Q96AE2
      Conserved Domains (1) summary
      PLN00191
      Location:2 → 431
      PLN00191; enolase

    3. NM_001374524.1 → NP_001361453.1  beta-enolase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC004771
      Conserved Domains (1) summary
      PLN00191
      Location:4 → 440
      PLN00191; enolase

    4. NM_001976.5 → NP_001967.3  beta-enolase isoform 1

      See identical proteins and their annotated locations for NP_001967.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AU143784, BC017249, BJ995304
      Consensus CDS
      CCDS11062.1
      UniProtKB/Swiss-Prot
      B4DUI6, B4DUM6, D3DTL2, E7ENK8, P13929, Q96AE2
      Related
      ENSP00000324105.6, ENST00000323997.10
      Conserved Domains (1) summary
      PLN00191
      Location:2 → 431
      PLN00191; enolase

    5. NM_053013.4 → NP_443739.3  beta-enolase isoform 1

      See identical proteins and their annotated locations for NP_443739.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      BC017249, DA082822
      Consensus CDS
      CCDS11062.1
      UniProtKB/Swiss-Prot
      B4DUI6, B4DUM6, D3DTL2, E7ENK8, P13929, Q96AE2
      Related
      ENSP00000430055.2, ENST00000519602.6
      Conserved Domains (1) summary
      PLN00191
      Location:2 → 431
      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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      4948710..4957129
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523729.2 → XP_011522031.1  beta-enolase isoform X1

      See identical proteins and their annotated locations for XP_011522031.1

      UniProtKB/Swiss-Prot
      B4DUI6, B4DUM6, D3DTL2, E7ENK8, P13929, Q96AE2
      Conserved Domains (1) summary
      PLN00191
      Location:2 → 431
      PLN00191; enolase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      4840899..4847443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P13929.5 GenPept UniProtKB/Swiss-Prot:P13929

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