Aliases for ENOPH1 Gene

Aliases for ENOPH1 Gene

  • Enolase-Phosphatase 1 2 3 5
  • Enolase-Phosphatase E1 2 3 4
  • MASA 2 3 4
  • 2,3-Diketo-5-Methylthio-1-Phosphopentane Phosphatase 3 4
  • Acireductone Synthase 2 3
  • EC 3.1.3.77 4 51
  • MtnC 2 3
  • E1 2 3
  • MASA Homolog 4
  • MST145 3
  • ENOPH1 5

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 and Malignant Hemangioma. Among its related pathways are S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include hydrolase activity and acireductone synthase activity.

UniProtKB/Swiss-Prot Summary 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).

Additional gene information for ENOPH1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENOPH1 Gene

Genomics for ENOPH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ENOPH1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENOPH1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ENOPH1

Top Transcription factor binding sites by QIAGEN in the ENOPH1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • HFH-3

Genomic Locations for ENOPH1 Gene

Genomic Locations for ENOPH1 Gene
chr4:82,430,590-82,461,177
(GRCh38/hg38)
Size:
30,588 bases
Orientation:
Plus strand
chr4:83,351,715-83,382,244
(GRCh37/hg19)
Size:
30,530 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; 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

Selected DME Specific Peptides for ENOPH1 Gene

Q9UHY7:
  • DIEGTTTPI
  • IGHKVES
  • NILFLTDV
  • HWEEEECQQDV
  • LKQLQGHMW
  • HVAVVVRPGNA
  • YLQTHWEEE
  • LLDIEGT
  • LLRKQAEED
  • SSGSVEAQ

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

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ENOPH1 Gene

Suggested Antigen Peptide Sequences for ENOPH1 Gene

GenScript: Design optimal peptide antigens:
  • MASA homolog (ENOPH_HUMAN)

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 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5-methylsulfanyl-2,3-dioxopentyl phosphate + H2O = 1,2-dihydroxy-5-(methylsulfanyl)pent-1-en-3-one + phosphate; Xref=Rhea:RHEA:21700, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:49252, ChEBI:CHEBI:58828; EC=3.1.3.77; Evidence={ECO:0000255|HAMAP-Rule:MF_03117};.

Enzyme Numbers (IUBMB) for ENOPH1 Gene

Phenotypes From GWAS Catalog 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:0005515 protein binding IPI 28514442
GO:0016787 hydrolase activity IEA --
GO:0043715 2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity IEA --
GO:0043716 2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity 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

CRISPR Products

miRNA for ENOPH1 Gene

miRTarBase miRNAs that target ENOPH1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENOPH1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ENOPH1 gene
Compartment Confidence
cytosol 5
nucleus 4
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

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 --
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:0008652 cellular amino acid biosynthetic process IEA --
GO:0009086 methionine biosynthetic process IEA --
GO:0016311 dephosphorylation IEA --
GO:0019284 L-methionine salvage from S-adenosylmethionine IEA --
GO:0019509 L-methionine salvage 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
sodium fluoride Approved Pharma Enzyme, inhibitor 299
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
2-OXOHEPTYLPHOSPHONIC ACID Experimental Pharma Target 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
  • Acireductone
  • 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
  • 1-Phospho-2,3-diketo-5-S-methylthiopentane
  • 2,3-Diketo-5-methylthio-1-phosphopentane
  • 2,3-Diketo-5-methylthiopentyl-1-phosphate
  • 5-Methylthio-1-(phosphonooxy)pentane-2,3-dione
  • 2,3-Diketo-5-methylthiopentyl-1-phosphoric acid
115974-73-7
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with ENOPH1: view

Transcripts for ENOPH1 Gene

mRNA/cDNA for ENOPH1 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENOPH1

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

Expression for ENOPH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ENOPH1 Gene



Protein tissue co-expression partners for ENOPH1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ENOPH1

SOURCE GeneReport for Unigene cluster for ENOPH1 Gene:

Hs.18442

Evidence on tissue expression from TISSUES for ENOPH1 Gene

  • Nervous system(5)
genes like me logo Genes that share expression patterns with ENOPH1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ENOPH1 30 31
  • 92.31 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ENOPH1 30 31
  • 89.27 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Enoph1 30
  • 85.47 (n)
Mouse
(Mus musculus)
Mammalia Enoph1 30 17 31
  • 85.34 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ENOPH1 31
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ENOPH1 31
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ENOPH1 30 31
  • 72.8 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ENOPH1 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia enoph1 30
  • 69.65 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13590 30
Zebrafish
(Danio rerio)
Actinopterygii enoph1 30 31
  • 65.24 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ENOPH_ANOGA 30
  • 56.24 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG12173 30 31
  • 52.79 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F58H1.3 30 31
  • 51.18 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTR4 31 33
  • 35 (a)
OneToOne
Rice
(Oryza sativa)
Liliopsida Os01g0101200 30
  • 51.9 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 45 (a)
OneToOne
Species where no ortholog for ENOPH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ENOPH1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ENOPH1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
752997 Likely Benign: not provided 82,451,186(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ENOPH1 Gene

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
chromosome 4q21 deletion syndrome
  • 4q21 microdeletion syndrome
malignant hemangioma
pancreatic serous cystadenoma
- elite association - COSMIC cancer census association via MalaCards
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 (Journal of molecular biology 2005) 2 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu RM … Chen JL (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for ENOPH1 Gene

Sources for ENOPH1 Gene