Reviewed,
UniProtKB/Swiss-Prot P13929 (ENOB_HUMAN)
Last modified
February 9, 2010.
Version 114.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Beta-enolase EC=4.2.1.11 Alternative name(s): 2-phospho-D-glycerate hydro-lyase Muscle-specific enolase Short name=MSE Skeletal muscle enolase Enolase 3 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Complete proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 434 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Appears to have a function in striated muscle development and regeneration. |
| Catalytic activity | 2-phospho-D-glycerate = phosphoenolpyruvate + H2O. |
| Cofactor | Magnesium. Required for catalysis and for stabilizing the dimer. |
| Pathway | Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 4/5. |
| Subunit structure | Mammalian enolase is composed of 3 isozyme subunits, alpha, beta and gamma, which can form homodimers or heterodimers which are cell-type and development-specific. Interacts with PNKD. Ref.8 |
| Subcellular location | Cytoplasm. Note: Localized to the Z line. Some colocalization with CKM at M-band By similarity. |
| Tissue specificity | The alpha/alpha homodimer is expressed in embryo and in most adult tissues. The alpha/beta heterodimer and the beta/beta homodimer are found in striated muscle, and the alpha/gamma heterodimer and the gamma/gamma homodimer in neurons. |
| Developmental stage | During ontogenesis, there is a transition from the alpha/alpha homodimer to the alpha/beta heterodimer in striated muscle cells, and to the alpha/gamma heterodimer in nerve cells. |
| Involvement in disease | Defects in ENO3 are the cause of glycogen storage disease type 13 (GSD13) [MIM:612932]. A metabolic disorder that results in exercise-induced myalgias, generalized muscle weakness and fatigability. It is characterized by increased serum creatine kinase and decreased enolase 3 activity. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen-beta particles are detected on ultrastructural analysis. |
| Sequence similarities | Belongs to the enolase family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Glycolysis |
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation Glycogen storage disease |
| Ligand | Magnesium Metal-binding |
| Molecular function | Lyase |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | glycolysis Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | phosphopyruvate hydratase complex Inferred from electronic annotation. Source: InterPro |
| Molecular function | magnesium ion binding Inferred from electronic annotation. Source: UniProtKB-KW phosphopyruvate hydratase activity Ref.4Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P13929-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: P13929-2) The sequence of this isoform differs from the canonical sequence as follows: 150-177: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: P13929-3) The sequence of this isoform differs from the canonical sequence as follows: 61-104: GVLKAVENINSTLGPALLQKKLSVADQEKVDKFMIELDGTENKS → A | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed By similarity | ||||||
| Chain | 2 – 434 | 433 | Beta-enolase | PRO_0000134107 | |||||
Regions | |||||||||
| Region | 370 – 373 | 4 | Substrate binding By similarity | ||||||
Sites | |||||||||
| Active site | 210 | 1 | Proton donor By similarity | ||||||
| Active site | 343 | 1 | Proton acceptor By similarity | ||||||
| Metal binding | 245 | 1 | Magnesium By similarity | ||||||
| Metal binding | 293 | 1 | Magnesium By similarity | ||||||
| Metal binding | 318 | 1 | Magnesium By similarity | ||||||
| Binding site | 158 | 1 | Substrate By similarity | ||||||
| Binding site | 167 | 1 | Substrate By similarity | ||||||
| Binding site | 293 | 1 | Substrate By similarity | ||||||
| Binding site | 318 | 1 | Substrate By similarity | ||||||
| Binding site | 394 | 1 | Substrate By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 61 – 104 | 44 | GVLKA…TENKS → A in isoform 3. | VSP_037752 | |||||
| Alternative sequence | 150 – 177 | 28 | Missing in isoform 2. | VSP_037753 | |||||
| Natural variant | 71 | 1 | S → N: dbSNP rs238238. Ref.1 Ref.2 Ref.3 | VAR_020618 | |||||
| Natural variant | 85 | 1 | A → V: dbSNP rs238239. Ref.1 Ref.3 | VAR_020619 | |||||
| Natural variant | 156 | 1 | G → D in GSD13; when associated with E-374. | VAR_020620 | |||||
| Natural variant | 374 | 1 | G → E in GSD13; when associated with D-156. | VAR_020621 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Structure of human muscle (beta) enolase mRNA and protein deduced from a genomic clone." Peshavaria M., Hinks L.J., Day I.N.M. Nucleic Acids Res. 17:8862-8862(1989) [PubMed: 2587223] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ASN-71 AND VAL-85. |
| [2] | "Nucleotide sequence of a cDNA encoding the human muscle-specific enolase (MSE)." Cali L., Feo S., Oliva D., Giallongo A. Nucleic Acids Res. 18:1893-1893(1990) [PubMed: 2336366] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ASN-71. |
| [3] | "Molecular structure of the human muscle-specific enolase gene (ENO3)." Peshavaria M., Day I.N.M. Biochem. J. 275:427-433(1991) [PubMed: 1840492] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANTS ASN-71 AND VAL-85. |
| [4] | "Structural features of the human gene for muscle-specific enolase. Differential splicing in the 5'-untranslated sequence generates two forms of mRNA." Giallongo A., Venturella S., Oliva D., Barbieri G., Rubino P., Feo S. Eur. J. Biochem. 214:367-374(1993) [PubMed: 8513787] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1). |
| [5] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3). Tissue: Skeletal muscle. |
| [6] | "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. Nusbaum C.Nature 440:1045-1049(2006) [PubMed: 16625196] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Muscle. |
| [8] | "Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle." Li T.-B., Liu X.-H., Feng S., Hu Y., Yang W.-X., Han Y., Wang Y.-G., Gong L.-M. Acta Biochim. Biophys. Sin. 36:412-418(2004) [PubMed: 15188056] [Abstract] Cited for: INTERACTION WITH PNKD. |
| [9] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [10] | "Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis." Comi G.P., Fortunato F., Lucchiari S., Bordoni A., Prelle A., Jann S., Keller A., Ciscato P., Galbiati S., Chiveri L., Torrente Y., Scarlato G., Bresolin N. Ann. Neurol. 50:202-207(2001) [PubMed: 11506403] [Abstract] Cited for: VARIANTS GSD13 ASP-156 AND GLU-374. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | X16504 mRNA. Translation: CAA34513.1. X51957 mRNA. Translation: CAA36216.1. X55976 Genomic DNA. Translation: CAA39446.1. X56832 Genomic DNA. Translation: CAA40163.1. AK300662 mRNA. Translation: BAG62348.1. AK300709 mRNA. Translation: BAG62388.1. AC109333 Genomic DNA. No translation available. BC017249 mRNA. Translation: AAH17249.1. |
| IPI | IPI00218474. IPI00909949. IPI00942494. |
| PIR | S06756. |
| RefSeq | NP_001967.2. NP_443739.2. |
| UniGene | Hs.224171 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | P13929. |
PTM databases | |
| PhosphoSite | P13929. |
Proteomic databases | |
| PRIDE | P13929. |
Genome annotation databases | |
| Ensembl | ENST00000323997; ENSP00000324105; ENSG00000108515; Homo sapiens. [Genome view] ENST00000381335; ENSP00000370739; ENSG00000108515; Homo sapiens. [Genome view] |
| GeneID | 2027. |
| KEGG | hsa:2027. |
| UCSC | uc002gab.2. human. |
Organism-specific databases | |
| CTD | 2027. |
| GeneCards | GC17P004795. |
| HGNC | HGNC:3354. ENO3. |
| HPA | HPA000793. |
| MIM | 131370. gene. 612932. phenotype. |
| Orphanet | 299. Enolase deficiency. |
| PharmGKB | PA27789. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG08456. |
| HOGENOM | HBG726599. |
| HOVERGEN | P13929. |
| InParanoid | P13929. |
| OrthoDB | EOG9B5RQC. |
| PhylomeDB | P13929. |
Enzyme and pathway databases | |
| BRENDA | 4.2.1.11. 247. |
| Reactome | REACT_1505. Integration of energy metabolism. REACT_15380. Diabetes pathways. REACT_474. Metabolism of carbohydrates. |
Gene expression databases | |
| ArrayExpress | P13929. |
| Bgee | P13929. |
| CleanEx | HS_ENO3. |
| Genevestigator | P13929. |
| GermOnline | ENSG00000108515. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000941. Enolase. IPR020810. Enolase_C. IPR020809. Enolase_CS. IPR020811. Enolase_N. [Graphical view] |
| Pfam | PF00113. Enolase_C. 1 hit. PF03952. Enolase_N. 1 hit. [Graphical view] |
| PIRSF | PIRSF001400. Enolase. 1 hit. |
| PRINTS | PR00148. ENOLASE. |
| TIGRFAMs | TIGR01060. eno. 1 hit. |
| PROSITE | PS00164. ENOLASE. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 8207. |
| SOURCE | Search... |
Entry information
| Entry name | ENOB_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P13929 Secondary accession number(s): B4DUI6, B4DUM6, Q96AE2 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 17 Human chromosome 17: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with


