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ENO3 enolase 3 [ Homo sapiens (human) ]

Gene ID: 2027, updated on 7-Jun-2020

Summary

Official Symbol
ENO3provided by HGNC
Official Full Name
enolase 3provided by HGNC
Primary source
HGNC:HGNC:3354
See related
Ensembl:ENSG00000108515 MIM:131370
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

Genomic context

See ENO3 in Genome Data Viewer
Location:
17p13.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (4949182..4957131)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4853404..4860426)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 11 Neighboring gene ring finger protein 167 Neighboring gene profilin 1 Neighboring gene sperm associated antigen 7 Neighboring gene calmodulin binding transcription activator 2 Neighboring gene microRNA 6864

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphopyruvate hydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphopyruvate hydratase activity IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
canonical glycolysis TAS
Traceable Author Statement
more info
 
gluconeogenesis TAS
Traceable Author Statement
more info
 
glycolytic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of vacuole fusion, non-autophagic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to drug IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular space HDA PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
phosphopyruvate hydratase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphopyruvate hydratase complex IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

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)

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_001193503.2NP_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
    UniProtKB/Swiss-Prot
    P13929
    Related
    ENSP00000430636.1, ENST00000519584.5
    Conserved Domains (1) summary
    PLN00191
    Location:2388
    PLN00191; enolase
  2. NM_001374523.1NP_001361452.1  beta-enolase isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC004771
  3. NM_001374524.1NP_001361453.1  beta-enolase isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC004771
  4. NM_001976.5NP_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
    P13929
    Related
    ENSP00000324105.6, ENST00000323997.10
    Conserved Domains (1) summary
    PLN00191
    Location:2431
    PLN00191; enolase
  5. NM_053013.4NP_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
    P13929
    Related
    ENSP00000430055.2, ENST00000519602.6
    Conserved Domains (1) summary
    PLN00191
    Location:2431
    PLN00191; enolase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    4949182..4957131
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523729.1XP_011522031.1  beta-enolase isoform X2

    See identical proteins and their annotated locations for XP_011522031.1

    UniProtKB/Swiss-Prot
    P13929
    Conserved Domains (1) summary
    PLN00191
    Location:2431
    PLN00191; enolase
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