Human Gene ENO1 (ENST00000234590.10_11) from GENCODE V47lift37
  Description: enolase 1, transcript variant 1 (from RefSeq NM_001428.5)
Gencode Transcript: ENST00000234590.10_11
Gencode Gene: ENSG00000074800.16_16
Transcript (Including UTRs)
   Position: hg19 chr1:8,921,059-8,938,745 Size: 17,687 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr1:8,921,419-8,934,967 Size: 13,549 Coding Exon Count: 11 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:8,921,059-8,938,745)mRNA (may differ from genome)Protein (434 aa)
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-  Comments and Description Text from UniProtKB
  ID: ENOA_HUMAN
DESCRIPTION: RecName: Full=Alpha-enolase; EC=4.2.1.11; AltName: Full=2-phospho-D-glycerate hydro-lyase; AltName: Full=C-myc promoter-binding protein; AltName: Full=Enolase 1; AltName: Full=MBP-1; AltName: Full=MPB-1; AltName: Full=Non-neural enolase; Short=NNE; AltName: Full=Phosphopyruvate hydratase; AltName: Full=Plasminogen-binding protein;
FUNCTION: Multifunctional enzyme that, as well as its role in glycolysis, plays a part in various processes such as growth control, hypoxia tolerance and allergic responses. May also function in the intravascular and pericellular fibrinolytic system due to its ability to serve as a receptor and activator of plasminogen on the cell surface of several cell-types such as leukocytes and neurons. Stimulates immunoglobulin production.
FUNCTION: MBP1 binds to the myc promoter and acts as a transcriptional repressor. May be a tumor suppressor.
CATALYTIC ACTIVITY: 2-phospho-D-glycerate = phosphoenolpyruvate + H(2)O.
COFACTOR: Magnesium. Required for catalysis and for stabilizing the dimer.
BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Enolase activity is lost above pH 9.0. Immunoglobulin production stimulating activity is retained at pH 13.0;
PATHWAY: Carbohydrate degradation; glycolysis; pyruvate from D- glyceraldehyde 3-phosphate: step 4/5.
SUBUNIT: 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. ENO1 interacts with PLG in the neuronal plasma membrane and promotes its activation. The C-terminal lysine is required for this binding (By similarity).
INTERACTION: P22303:ACHE; NbExp=2; IntAct=EBI-353877, EBI-1637793; Q8WZ42:TTN; NbExp=3; IntAct=EBI-353877, EBI-681210;
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane. Cytoplasm, myofibril, sarcomere, M line. Note=Can translocate to the plasma membrane in either the homodimeric (alpha/alpha) or heterodimeric (alpha/gamma) form. ENO1 is localized to the M line.
SUBCELLULAR LOCATION: Isoform MBP-1: Nucleus.
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.
INDUCTION: Induced in diffuse large cell lymphoma (DLCL) after treatment with the natural biological agent, Bryo1. Up-regulated in response to enterovirus 71 (EV71) infection (at protein level).
PTM: ISGylated.
MISCELLANEOUS: Used as a diagnostic marker for many tumors and, in the heterodimeric form, alpha/gamma, as a marker for hypoxic brain injury after cardiac arrest. Also marker for endometriosis. Antibodies against alpha-enolase are present in sera from patients with cancer-associated retinopathy syndrome (CAR), a progressive blinding disease which occurs in the presence of systemic tumor growth, primarily small-cell carcinoma of the lung and other malignancies. Is identified as an autoantigen in Hashimoto encephalopathy (HE) a rare autoimmune disease associated with Hashimoto thyroiditis (HT). HT is a disorder in which destructive processes overcome the potential capacity of thyroid replacement leading to hypothyroidism.
SIMILARITY: Belongs to the enolase family.
SEQUENCE CAUTION: Sequence=AAA35698.1; Type=Frameshift; Positions=Several; Sequence=AAA35698.1; Type=Miscellaneous discrepancy; Note=Sequencing errors;
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/eno1/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ENO1
Diseases sorted by gene-association score: cancer-associated retinopathy (19), non-herpetic acute limbic encephalitis (18), lymphocytic hypophysitis (18), autoimmune retinopathy (18), encephalopathy (10), giardiasis (9), relapsing polychondritis (8), keratoconus (7), retinitis pigmentosa 14 (6), cryoglobulinemia, familial mixed (6), cholangitis, primary sclerosing (5), limbic encephalitis (5), brain injury (5), endometriosis (4), behcet syndrome (4), lung cancer (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1485.25 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 13510.23 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -28.50116-0.246 Picture PostScript Text
3' UTR -114.10360-0.317 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000941 - Enolase
IPR020810 - Enolase_C
IPR020809 - Enolase_CS
IPR020811 - Enolase_N

Pfam Domains:
PF00113 - Enolase, C-terminal TIM barrel domain
PF03952 - Enolase, N-terminal domain
PF13378 - Enolase C-terminal domain-like

SCOP Domains:
51604 - Enolase C-terminal domain-like
54826 - Enolase N-terminal domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2PSN - X-ray MuPIT 3B97 - X-ray


ModBase Predicted Comparative 3D Structure on P06733
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000287 magnesium ion binding
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003723 RNA binding
GO:0004634 phosphopyruvate hydratase activity
GO:0005515 protein binding
GO:0016829 lyase activity
GO:0042803 protein homodimerization activity
GO:0045296 cadherin binding
GO:0046872 metal ion binding
GO:0051020 GTPase binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006094 gluconeogenesis
GO:0006096 glycolytic process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0009615 response to virus
GO:0010756 positive regulation of plasminogen activation
GO:0030308 negative regulation of cell growth
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045933 positive regulation of muscle contraction
GO:0061621 canonical glycolysis
GO:1903298 negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway
GO:2001171 positive regulation of ATP biosynthetic process

Cellular Component:
GO:0000015 phosphopyruvate hydratase complex
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0031430 M band
GO:0070062 extracellular exosome
GO:0099738 cell cortex region


-  Descriptions from all associated GenBank mRNAs
  BC050642 - Homo sapiens enolase 1, (alpha), mRNA (cDNA clone MGC:60133 IMAGE:6063437), complete cds.
BC021166 - Homo sapiens enolase 1, (alpha), mRNA (cDNA clone IMAGE:3835655), partial cds.
BC004325 - Homo sapiens enolase 1, (alpha), mRNA (cDNA clone IMAGE:3629132), partial cds.
AF035286 - Homo sapiens clone 23942 alpha enolase mRNA, partial cds.
BC001810 - Homo sapiens enolase 1, (alpha), mRNA (cDNA clone MGC:2414 IMAGE:2906988), complete cds.
BC027725 - Homo sapiens enolase 1, (alpha), mRNA (cDNA clone MGC:23185 IMAGE:4843306), complete cds.
BC022545 - Homo sapiens enolase 1, (alpha), mRNA (cDNA clone MGC:26814 IMAGE:4799584), complete cds.
BX537400 - Homo sapiens mRNA; cDNA DKFZp686B0286 (from clone DKFZp686B0286); complete cds.
U88968 - Human alpha enolase like 1 (ENO1L1) mRNA, partial cds.
AK298600 - Homo sapiens cDNA FLJ51273 complete cds, highly similar to Transmembrane protein 11.
AK098420 - Homo sapiens cDNA FLJ25554 fis, clone JTH02504, highly similar to ALPHA ENOLASE (EC 4.2.1.11).
M14328 - Human alpha enolase mRNA, complete cds.
AK090592 - Homo sapiens cDNA FLJ33273 fis, clone ASTRO2007956, highly similar to ALPHA ENOLASE (EC 4.2.1.11).
BC009218 - Homo sapiens enolase 1, (alpha), mRNA (cDNA clone IMAGE:3927406), partial cds.
M55914 - Homo sapiens c-myc binding protein (MBP-1) mRNA, complete cds.
BC073991 - Homo sapiens enolase 1, (alpha), mRNA (cDNA clone IMAGE:6060977), **** WARNING: chimeric clone ****.
AL833741 - Homo sapiens mRNA; cDNA DKFZp666C036 (from clone DKFZp666C036).
GU170215 - Homo sapiens c-myc promoter-binding protein 1 mRNA, complete cds.
BC011130 - Homo sapiens enolase 1, (alpha), mRNA (cDNA clone MGC:17252 IMAGE:3447583), complete cds.
BC015641 - Homo sapiens enolase 1, (alpha), mRNA (cDNA clone MGC:23319 IMAGE:4643088), complete cds.
GQ472226 - Homo sapiens epididymis secretory protein Li 17 (HEL-S-17) mRNA, complete cds.
BC004458 - Homo sapiens enolase 1, (alpha), mRNA (cDNA clone MGC:4315 IMAGE:2820106), complete cds.
BC009912 - Homo sapiens enolase 1, (alpha), mRNA (cDNA clone MGC:2689 IMAGE:2820106), complete cds.
AK222517 - Homo sapiens mRNA for enolase 1 variant, clone: adSE00169.
AK223192 - Homo sapiens mRNA for enolase 1 variant, clone: REC00347.
JD275837 - Sequence 256861 from Patent EP1572962.
JD492940 - Sequence 473964 from Patent EP1572962.
JD399449 - Sequence 380473 from Patent EP1572962.
JD188795 - Sequence 169819 from Patent EP1572962.
BC113034 - Homo sapiens enolase 1, (alpha), mRNA (cDNA clone IMAGE:40021845), partial cds.
JD459314 - Sequence 440338 from Patent EP1572962.
JD106733 - Sequence 87757 from Patent EP1572962.
JD397673 - Sequence 378697 from Patent EP1572962.
JD054850 - Sequence 35874 from Patent EP1572962.
JD439665 - Sequence 420689 from Patent EP1572962.
JD560510 - Sequence 541534 from Patent EP1572962.
X84907 - H.sapiens mRNA for 2-phosphopyruvate-hydratase-alpha-enolase.
AK315417 - Homo sapiens cDNA, FLJ96469, Homo sapiens enolase 1, (alpha) (ENO1), mRNA.
BT007163 - Homo sapiens enolase 1, (alpha) mRNA, complete cds.
DQ891441 - Synthetic construct clone IMAGE:100004071; FLH176984.01X; RZPDo839B09124D enolase 1, (alpha) (ENO1) gene, encodes complete protein.
KJ896766 - Synthetic construct Homo sapiens clone ccsbBroadEn_06160 ENO1 gene, encodes complete protein.
DQ894619 - Synthetic construct Homo sapiens clone IMAGE:100009079; FLH176981.01L; RZPDo839B09123D enolase 1, (alpha) (ENO1) gene, encodes complete protein.
AB463027 - Synthetic construct DNA, clone: pF1KB5420, Homo sapiens ENO1 gene for enolase 1, without stop codon, in Flexi system.
AM393606 - Synthetic construct Homo sapiens clone IMAGE:100002332 for hypothetical protein (ENO1 gene).
LF351741 - JP 2014500723-A/159244: Polycomb-Associated Non-Coding RNAs.
AK309177 - Homo sapiens cDNA, FLJ99218.
CU679888 - Synthetic construct Homo sapiens gateway clone IMAGE:100017260 5' read ENO1 mRNA.
EF036495 - Homo sapiens enolase 1 mRNA, partial cds.
JD019438 - Sequence 462 from Patent EP1572962.
JD025689 - Sequence 6713 from Patent EP1572962.
JD023539 - Sequence 4563 from Patent EP1572962.
JD026807 - Sequence 7831 from Patent EP1572962.
AK309291 - Homo sapiens cDNA, FLJ99332.
JD033040 - Sequence 14064 from Patent EP1572962.
JD270578 - Sequence 251602 from Patent EP1572962.
D28437 - Homo sapiens mRNA for enolase-alpha, 5'UTR region.
JD398243 - Sequence 379267 from Patent EP1572962.
JD127197 - Sequence 108221 from Patent EP1572962.
JD257350 - Sequence 238374 from Patent EP1572962.
MA587318 - JP 2018138019-A/159244: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY66-399 - gluconeogenesis
PWY66-400 - glycolysis
PWY66-407 - superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle

Reactome (by CSHL, EBI, and GO)

Protein P06733 (Reactome details) participates in the following event(s):

R-HSA-70494 Phosphoenolpyruvate + H2O <=> 2-Phospho-D-glycerate
R-HSA-71660 2-Phospho-D-glycerate <=> Phosphoenolpyruvate + H2O
R-HSA-70263 Gluconeogenesis
R-HSA-70171 Glycolysis
R-HSA-70326 Glucose metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2RD59, ENO1L1, ENOA_HUMAN, ENST00000234590.1, ENST00000234590.2, ENST00000234590.3, ENST00000234590.4, ENST00000234590.5, ENST00000234590.6, ENST00000234590.7, ENST00000234590.8, ENST00000234590.9, MBPB1, MPB1, NM_001428, P06733, P22712, Q16704, Q4TUS4, Q53FT9, Q53HR3, Q658M5, Q6GMP2, Q71V37, Q7Z3V6, Q8WU71, Q96GV1, Q9BT62, Q9UCH6, Q9UM55, uc317dzj.1, uc317dzj.2
UCSC ID: ENST00000234590.10_11
RefSeq Accession: NM_001428.5
Protein: P06733 (aka ENOA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.