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ENO3 enolase 3 [ Homo sapiens (human) ]

Gene ID: 2027, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4948710..4957129)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4840899..4847443)
105.20220307 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
  • 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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Related articles in PubMed

  1. ENO3 promotes colorectal cancer progression by enhancing cell glycolysis. Chen J, et al. Med Oncol, 2022 Apr 28. PMID 35477821
  2. Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated? Musumeci O, et al. J Neurol, 2014 Dec. PMID 25267339
  3. Structural features of the human gene for muscle-specific enolase. Differential splicing in the 5'-untranslated sequence generates two forms of mRNA. Giallongo A, et al. Eur J Biochem, 1993 Jun 1. PMID 8513787
  4. Structure of human muscle (beta) enolase mRNA and protein deduced from a genomic clone. Peshavaria M, et al. Nucleic Acids Res, 1989 Nov 11. PMID 2587223, Free PMC Article
  5. Nucleotide sequence of a cDNA encoding the human muscle-specific enolase (MSE). Calì L, et al. Nucleic Acids Res, 1990 Apr 11. PMID 2336366, Free PMC Article

See all (56) citations in PubMed

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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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
  
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_2023_10

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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