ENO3 enolase 3 (beta, muscle) [Homo sapiens] - Gene

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Summary

Official Symbol: ENO3provided by HGNC
Official Full Name: enolase 3 (beta, muscle)provided by HGNC
Primary source: HGNC:3354
See related: Ensembl:ENSG00000108515; HPRD:11746; MIM:131370; Vega:OTTHUMG00000099394
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]

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Genomic context

Location :: 17pter-p11

Sequence :: Chromosome: 17; NC_000017.10 (4854384..4860426)

See ENO3 in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
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

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
P13929	Q8N490	PNKD	HPRD	PubMed
BioGRID:108341	BioGRID:124195	TRIM63	BioGRID	PubMed	Two-hybrid
BioGRID:108341	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
lyase activity	IEA Inferred from Electronic Annotation more info
magnesium ion binding	IEA Inferred from Electronic Annotation more info
phosphopyruvate hydratase activity	IEA Inferred from Electronic Annotation more info
protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
protein homodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
aging	IEA Inferred from Electronic Annotation more info
carbohydrate metabolic process	TAS Traceable Author Statement more info
gluconeogenesis	TAS Traceable Author Statement more info
glucose metabolic process	TAS Traceable Author Statement more info
glycolysis	TAS Traceable Author Statement more info
response to drug	IEA Inferred from Electronic Annotation more info
skeletal muscle tissue regeneration	IEA Inferred from Electronic Annotation more info
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
membrane fraction	IEA Inferred from Electronic Annotation more info
phosphopyruvate hydratase complex	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: beta-enolase

Names: beta-enolase; muscle-specific enolase; skeletal muscle enolase; 2-phospho-D-glycerate hydrolyase

NP_001180432.1

EC 4.2.1.11

NP_001967.3

EC 4.2.1.11

NP_443739.3

EC 4.2.1.11

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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

NG_012063.2 RefSeqGene

Range

9999..16041

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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, DA082822, F26358

Consensus CDS

CCDS54070.1

UniProtKB/Swiss-Prot

P13929

Related

ENSP00000430636, OTTHUMP00000227666, ENST00000519584, OTTHUMT00000380511

Conserved Domains (2) summary

cd03313
Location:5 – 372
Blast Score: 1509

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.

PLN00191
Location:2 – 388
Blast Score: 1801

PLN00191; enolase
NM_001976.4 → NP_001967.3 beta-enolase isoform 1

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)

AC004771, AU143784, BC017249, BJ995304, F26358

Consensus CDS

CCDS11062.1

UniProtKB/TrEMBL

D3DTL2

UniProtKB/Swiss-Prot

P13929

Related

ENSP00000324105, OTTHUMP00000125242, ENST00000323997, OTTHUMT00000216851

Conserved Domains (2) summary

cd03313
Location:5 – 415
Blast Score: 1719

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.

PLN00191
Location:2 – 431
Blast Score: 1995

PLN00191; enolase
NM_053013.3 → NP_443739.3 beta-enolase isoform 1

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, F26358

Consensus CDS

CCDS11062.1

UniProtKB/TrEMBL

D3DTL2

UniProtKB/Swiss-Prot

P13929

Related

ENSP00000431087, OTTHUMP00000227667, ENST00000518175, OTTHUMT00000380513

Conserved Domains (2) summary

cd03313
Location:5 – 415
Blast Score: 1719

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.

PLN00191
Location:2 – 431
Blast Score: 1995

PLN00191; enolase

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

4854384..4860426

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

4741974..4747994

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC004771.1 (20750..26790)	None
genomic	AC109333.28 (166459..172447)	None
genomic	CH471108.2	EAW90375.1
		EAW90376.1
		EAW90377.1
		EAW90378.1
		EAW90379.1
		EAW90380.1
genomic	X55976.1	CAA39446.1
genomic	X56832.1	CAA40163.1
mRNA	AK300662.1	BAG62348.1
mRNA	AK300673.1	BAG62358.1
mRNA	AK300709.1	BAG62388.1
mRNA	AK309864.1	None
mRNA	AL359213.1	CAB94588.1
mRNA	AU143784.1	None
mRNA	BC017249.2	AAH17249.1
mRNA	BJ995304.1	None
mRNA	DA082822.1	None
mRNA	DA566866.1	None
mRNA	F26358.1	None
mRNA	X16504.1	CAA34513.1
mRNA	X51957.1	CAA36216.1
other-genetic	DQ892622.2	ABM83548.1
other-genetic	DQ895862.2	ABM86788.1