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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 58
  • 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 S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation. 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).

Additional gene information for ENOPH1 Gene

No data available for Entrez Gene Summary , CIViC 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
GH04H082370 1.4 ENCODE dbSUPER 11.7 -57.0 -57026 5 MLX DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A SSRP1 ZNF610 GLIS1 HNRNPD HNRNPDL THAP9-AS1 SEC31A ENSG00000199530 LOC101928963 ENOPH1 TMEM150C PIR50483
GH04H082360 0.9 ENCODE dbSUPER 11.7 -69.8 -69756 1 ZNF664 SMARCE1 CTCF ZNF654 POLR2A TRIM22 PRDM1 RAD21 HNRNPDL ENOPH1 ENSG00000273156 PIR50483
GH04H082427 1.6 Ensembl ENCODE dbSUPER 5.7 -1.0 -1009 4 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 HNRNPD HNRNPDL ENOPH1 ENSG00000202440 GC04M082403
GH04H082380 0.7 ENCODE 11.4 -50.0 -49978 0 CTCF ZNF687 MAX SIN3A USF2 MNT ELF1 ZNF592 CREB1 KLF9 HNRNPDL ENOPH1 HNRNPD IGBP1P4
GH04H082394 0.6 ENCODE 11.7 -35.5 -35457 1 TFE3 FOXA2 SAP130 HLF RAD51 FOS FOSL2 PRDM1 HNRNPDL ENOPH1 HNRNPD TMEM150C IGBP1P4
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000169995 -879 4400 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9

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

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:

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 TAS,IEA --
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

CRISPR Products

miRNA for ENOPH1 Gene

miRTarBase miRNAs that target ENOPH1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ENOPH1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , 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
extracellular 5
cytosol 5
nucleus 4
mitochondrion 2
plasma membrane 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 --
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 TAS,IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ENOPH1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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, 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

Evidence on tissue expression from TISSUES for ENOPH1 Gene

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

Primer Products

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 33 34
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia ENOPH1 33 34
  • 92.31 (n)
cow
(Bos Taurus)
Mammalia ENOPH1 33 34
  • 89.27 (n)
rat
(Rattus norvegicus)
Mammalia Enoph1 33
  • 85.47 (n)
mouse
(Mus musculus)
Mammalia Enoph1 33 16 34
  • 85.34 (n)
oppossum
(Monodelphis domestica)
Mammalia ENOPH1 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENOPH1 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENOPH1 33 34
  • 72.8 (n)
lizard
(Anolis carolinensis)
Reptilia ENOPH1 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia enoph1 33
  • 69.65 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13590 33
zebrafish
(Danio rerio)
Actinopterygii enoph1 33 34
  • 65.24 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta ENOPH_ANOGA 33
  • 56.24 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12173 33 34
  • 52.79 (n)
worm
(Caenorhabditis elegans)
Secernentea F58H1.3 33 34
  • 51.18 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTR4 34 36
  • 35 (a)
OneToOne
rice
(Oryza sativa)
Liliopsida Os01g0101200 33
  • 51.9 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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
rs1057519138 Uncertain significance 82,429,578(-) CCGCG(-/GCCGCCGCGGCAGCT)AGCCC nc-transcript-variant, upstream-variant-2KB, cds-indel
rs1000102077 -- 82,433,770(+) AGAGA(A/G)TGACA intron-variant
rs1000134171 -- 82,443,584(+) TTGGC(C/T)GGGCG intron-variant
rs1000214211 -- 82,443,948(+) TCAGC(C/T)CACTA intron-variant
rs10002169 -- 82,429,944(+) GCGGC(A/G)GCCGC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

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 (Journal of molecular biology 2005) 2 3 4 22 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  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 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for ENOPH1 Gene

Sources for ENOPH1 Gene

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