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Aliases for ENOPH1 Gene

Aliases for ENOPH1 Gene

  • Enolase-Phosphatase 1 2 3 5
  • 2,3-Diketo-5-Methylthio-1-Phosphopentane Phosphatase 3 4
  • Enolase-Phosphatase E1 2 3
  • Acireductone Synthase 2 3
  • EC 3.1.3.77 4 61
  • MASA 3 4
  • MASA Homolog 4
  • MST145 3
  • MtnC 3
  • E1 3

External Ids for ENOPH1 Gene

Previous GeneCards Identifiers for ENOPH1 Gene

  • GC04P083570
  • GC04P083351
  • GC04P079093

Summaries for ENOPH1 Gene

GeneCards Summary for ENOPH1 Gene

ENOPH1 (Enolase-Phosphatase 1) is a Protein Coding gene. Diseases associated with ENOPH1 include Chromosome 4Q21 Deletion Syndrome. Among its related pathways are Metabolism and Sulfur amino acid metabolism. GO annotations related to this gene include hydrolase activity and acireductone synthase activity.

UniProtKB/Swiss-Prot for ENOPH1 Gene

  • Bifunctional enzyme that catalyzes the enolization of 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P) into the intermediate 2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate (HK-MTPenyl-1-P), which is then dephosphorylated to form the acireductone 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENOPH1 Gene

Genomics for ENOPH1 Gene

Regulatory Elements for ENOPH1 Gene

Enhancers for ENOPH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F082394 0.2 ENCODE 11.7 -35.5 -35457 1.1 TFE3 RAD51 SAP130 HLF FOS FOSL2 PRDM1 ENOPH1 HNRNPDL HNRNPD TMEM150C IGBP1P4
GH04F082359 1.1 Ensembl ENCODE 11.7 -69.9 -69880 2.0 CTCF ZNF654 PKNOX1 SAP130 TRIM22 REST RAD21 ZNF335 ZNF664 MEF2D ENOPH1 HNRNPDL ENSG00000273156 PIR50483
GH04F082362 0.4 Ensembl 11.7 -67.6 -67580 0.6 ELF3 HDAC1 ARID4B SIN3A DMAP1 THRB ZNF48 ZNF335 GLIS2 MIXL1 ENOPH1 HNRNPDL ENSG00000273156 PIR50483
GH04F082370 1.1 ENCODE 11.7 -57.0 -57026 5.0 HDGF PKNOX1 ARNT MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ENSG00000199530 ENOPH1 HNRNPDL LINC00575 LOC101928963 TMEM150C PIR50483
GH04F082380 1.1 Ensembl ENCODE 11.4 -50.0 -49966 0.6 CTCF ZNF687 MAX USF2 SIN3A MNT RAD21 ZNF592 CBX1 KLF9 ENOPH1 HNRNPDL HNRNPD IGBP1P4
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ENOPH1 on UCSC Golden Path with GeneCards custom track

Promoters for ENOPH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001244188 -979 5000 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for ENOPH1 Gene

Chromosome:
4
Start:
82,430,480 bp from pter
End:
82,461,175 bp from pter
Size:
30,696 bases
Orientation:
Plus strand

Genomic View for ENOPH1 Gene

Genes around ENOPH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENOPH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENOPH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENOPH1 Gene

Proteins for ENOPH1 Gene

  • Protein details for ENOPH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHY7-ENOPH_HUMAN
    Recommended name:
    Enolase-phosphatase E1
    Protein Accession:
    Q9UHY7
    Secondary Accessions:
    • Q7Z4C5
    • Q9BVC2

    Protein attributes for ENOPH1 Gene

    Size:
    261 amino acids
    Molecular mass:
    28933 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAQ13671.1; Type=Frameshift; Positions=235; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ENOPH1 Gene

    Alternative splice isoforms for ENOPH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ENOPH1 Gene

Post-translational modifications for ENOPH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ENOPH1 Gene

Domains & Families for ENOPH1 Gene

Gene Families for ENOPH1 Gene

Protein Domains for ENOPH1 Gene

Suggested Antigen Peptide Sequences for ENOPH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHY7

UniProtKB/Swiss-Prot:

ENOPH_HUMAN :
  • Belongs to the HAD-like hydrolase superfamily. MasA/MtnC family.
Family:
  • Belongs to the HAD-like hydrolase superfamily. MasA/MtnC family.
genes like me logo Genes that share domains with ENOPH1: view

Function for ENOPH1 Gene

Molecular function for ENOPH1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
5-(methylthio)-2,3-dioxopentyl phosphate + H(2)O = 1,2-dihydroxy-5-(methylthio)pent-1-en-3-one + phosphate.
UniProtKB/Swiss-Prot Function:
Bifunctional enzyme that catalyzes the enolization of 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P) into the intermediate 2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate (HK-MTPenyl-1-P), which is then dephosphorylated to form the acireductone 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene).

Enzyme Numbers (IUBMB) for ENOPH1 Gene

Gene Ontology (GO) - Molecular Function for ENOPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0043874 acireductone synthase activity IEA,TAS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ENOPH1: view
genes like me logo Genes that share phenotypes with ENOPH1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ENOPH1

miRNA for ENOPH1 Gene

miRTarBase miRNAs that target ENOPH1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ENOPH1 Gene

Localization for ENOPH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENOPH1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ENOPH1 Gene COMPARTMENTS Subcellular localization image for ENOPH1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 4
mitochondrion 2
endoplasmic reticulum 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ENOPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ENOPH1: view

Pathways & Interactions for ENOPH1 Gene

genes like me logo Genes that share pathways with ENOPH1: view

UniProtKB/Swiss-Prot Q9UHY7-ENOPH_HUMAN

  • Pathway: Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; L-methionine from S-methyl-5-thio-alpha-D-ribose 1-phosphate: step 3/6.
  • Pathway: Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; L-methionine from S-methyl-5-thio-alpha-D-ribose 1-phosphate: step 4/6.

Gene Ontology (GO) - Biological Process for ENOPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0008652 cellular amino acid biosynthetic process IEA --
GO:0009086 methionine biosynthetic process IEA --
GO:0016311 dephosphorylation IEA --
GO:0019509 L-methionine biosynthetic process from methylthioadenosine IEA,TAS --
genes like me logo Genes that share ontologies with ENOPH1: view

No data available for SIGNOR curated interactions for ENOPH1 Gene

Drugs & Compounds for ENOPH1 Gene

(7) Drugs for ENOPH1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
2-OXOHEPTYLPHOSPHONIC ACID Experimental Pharma Target 0
Magnesium Nutra 0

(3) Additional Compounds for ENOPH1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,2-Dihydroxy-3-keto-5-methylthiopentene
  • 1,2-Dihydroxy-3-keto-5-methylthiopentane
  • 1,2-Dihydroxy-3-keto-5-methylthiopentene anion
  • 1,2-Dihydroxy-5-(methylsulfanyl)pent-1-en-3-one
  • 1,2-Dihydroxy-5-(methylthio)pent-1-en-3-one
746507-19-7
5-(methylthio)-2,3-Dioxopentyl phosphate
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with ENOPH1: view

Transcripts for ENOPH1 Gene

Unigene Clusters for ENOPH1 Gene

Enolase-phosphatase 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ENOPH1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c · 10d · 10e
SP1: - - - - - - - -
SP2: - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: -
SP6: - - - - - - - -
SP7: -
SP8: - - - - -
SP9: - - - - - - - - - - - -
SP10:

Relevant External Links for ENOPH1 Gene

GeneLoc Exon Structure for
ENOPH1
ECgene alternative splicing isoforms for
ENOPH1

Expression for ENOPH1 Gene

mRNA expression in normal human tissues for ENOPH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ENOPH1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.3).

Protein differential expression in normal tissues from HIPED for ENOPH1 Gene

This gene is overexpressed in Brain (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ENOPH1 Gene



Protein tissue co-expression partners for ENOPH1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ENOPH1 Gene:

ENOPH1

SOURCE GeneReport for Unigene cluster for ENOPH1 Gene:

Hs.18442
genes like me logo Genes that share expression patterns with ENOPH1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ENOPH1 Gene

Orthologs for ENOPH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ENOPH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENOPH1 34 35
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia ENOPH1 34 35
  • 92.31 (n)
cow
(Bos Taurus)
Mammalia ENOPH1 34 35
  • 89.27 (n)
rat
(Rattus norvegicus)
Mammalia Enoph1 34
  • 85.47 (n)
mouse
(Mus musculus)
Mammalia Enoph1 34 16 35
  • 85.34 (n)
oppossum
(Monodelphis domestica)
Mammalia ENOPH1 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENOPH1 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENOPH1 34 35
  • 72.8 (n)
lizard
(Anolis carolinensis)
Reptilia ENOPH1 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia enoph1 34
  • 69.65 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13590 34
zebrafish
(Danio rerio)
Actinopterygii enoph1 34 35
  • 65.24 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta ENOPH_ANOGA 34
  • 56.24 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12173 34 35
  • 52.79 (n)
worm
(Caenorhabditis elegans)
Secernentea F58H1.3 34 35
  • 51.18 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTR4 35 37
  • 35 (a)
OneToOne
rice
(Oryza sativa)
Liliopsida Os01g0101200 34
  • 51.9 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToOne
Species where no ortholog for ENOPH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ENOPH1 Gene

ENSEMBL:
Gene Tree for ENOPH1 (if available)
TreeFam:
Gene Tree for ENOPH1 (if available)

Paralogs for ENOPH1 Gene

Pseudogenes.org Pseudogenes for ENOPH1 Gene

genes like me logo Genes that share paralogs with ENOPH1: view

No data available for Paralogs for ENOPH1 Gene

Variants for ENOPH1 Gene

Sequence variations from dbSNP and Humsavar for ENOPH1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10002169 -- 82,429,944(+) GCGGC(A/G)GCCGC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs10024950 -- 82,429,576(+) CGGGG(C/T)TAGCT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs10032787 -- 82,458,249(+) CACCT(A/G)TAATC intron-variant
rs1045250 -- 82,430,692(+) CGGCG(G/T)GCTGC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs10516674 -- 82,437,609(-) CCTTT(A/G)CAAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ENOPH1 Gene

Variant ID Type Subtype PubMed ID
nsv829988 CNV loss 17160897
nsv829989 CNV loss 17160897

Variation tolerance for ENOPH1 Gene

Residual Variation Intolerance Score: 28.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.42; 9.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ENOPH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENOPH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENOPH1 Gene

Disorders for ENOPH1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ENOPH1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 4q21 deletion syndrome
  • 4q21 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ENOPH1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENOPH1
genes like me logo Genes that share disorders with ENOPH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ENOPH1 Gene

Publications for ENOPH1 Gene

  1. Crystal structure of human E1 enzyme and its complex with a substrate analog reveals the mechanism of its phosphatase/enolase activity. (PMID: 15843022) Wang H. … Rao Z. (J. Mol. Biol. 2005) 2 3 4 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu R.-M. … Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4 64
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64

Products for ENOPH1 Gene

Sources for ENOPH1 Gene

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