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    ENOPH1 enolase-phosphatase 1 [ Homo sapiens (human) ]

    Gene ID: 58478, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ENOPH1provided by HGNC
    Official Full Name
    enolase-phosphatase 1provided by HGNC
    Primary source
    HGNC:HGNC:24599
    See related
    Ensembl:ENSG00000145293 AllianceGenome:HGNC:24599
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    E1; MASA; mtnC; MST145
    Summary
    Enables acireductone synthase activity. Involved in L-methionine salvage from methylthioadenosine. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 34.5), thyroid (RPKM 16.6) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See ENOPH1 in Genome Data Viewer
    Location:
    4q21.22
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (82430590..82461177)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (85760198..85790791)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (83351743..83382330)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORD42 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:83332215-83333169 Neighboring gene NANOG hESC enhancer GRCh37_chr4:83337083-83337615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15529 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:83350279-83351074 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:83351075-83351870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21664 Neighboring gene heterogeneous nuclear ribonucleoprotein D like Neighboring gene uncharacterized LOC105377310 Neighboring gene transmembrane protein 150C Neighboring gene ribosomal protein L7a pseudogene 26

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Tumor-promoting properties of enolase-phosphatase 1 in breast cancer via activating the NF-κB signaling pathway. Bu Y, et al. Mol Biol Rep, 2023 Feb. PMID 36378417
    2. Integration of metabolomics and expression of enolase-phosphatase 1 links to hepatocellular carcinoma progression. Zhuang H, et al. Theranostics, 2019. PMID 31281503, Free PMC Article
    3. Enolase-phosphatase 1 acts as an oncogenic driver in glioma. Wang B, et al. J Cell Physiol, 2021 Feb. PMID 32654229
    4. Enolase-phosphatase 1 as a novel potential malignant glioma indicator promotes cell proliferation and migration. Su L, et al. Oncol Rep, 2018 Oct. PMID 30066900
    5. Crystal structure of human E1 enzyme and its complex with a substrate analog reveals the mechanism of its phosphatase/enolase activity. Wang H, et al. J Mol Biol, 2005 May 13. PMID 15843022

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Tumor-promoting properties of enolase-phosphatase 1 in breast cancer via activating the NF-kappaB signaling pathway.
      Title: Tumor-promoting properties of enolase-phosphatase 1 in breast cancer via activating the NF-κB signaling pathway.
    2. Enolase-phosphatase 1 acts as an oncogenic driver in glioma.
      Title: Enolase-phosphatase 1 acts as an oncogenic driver in glioma.
    3. Taken together, these findings illustrate that ENOPH1 promotes hepatocellular carcinoma progression.
      Title: Integration of metabolomics and expression of enolase-phosphatase 1 links to hepatocellular carcinoma progression.
    4. High ENOPH1 expression is associated with malignant glioma.
      Title: Enolase-phosphatase 1 as a novel potential malignant glioma indicator promotes cell proliferation and migration.
    5. the crystal structure of MASA and its complex with a substrate analog
      Title: Crystal structure of human E1 enzyme and its complex with a substrate analog reveals the mechanism of its phosphatase/enolase activity.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12594, DKFZp586M0524

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables acireductone synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables acireductone synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-methionine salvage from S-adenosylmethionine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-methionine salvage from methylthioadenosine IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-methionine salvage from methylthioadenosine IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in L-methionine salvage from methylthioadenosine IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    enolase-phosphatase E1
    Names
    2,3-diketo-5-methylthio-1-phosphopentane phosphatase
    acireductone synthase
    NP_001278946.1
    NP_067027.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001292017.2 → NP_001278946.1  enolase-phosphatase E1 isoform 2

      See identical proteins and their annotated locations for NP_001278946.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' terminal exon and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC067942, AL518796, AW470971, BC065815, CN335976, DA067292
      Consensus CDS
      CCDS75154.1
      UniProtKB/TrEMBL
      D6RA00
      Related
      ENSP00000422005.1, ENST00000509635.5
      Conserved Domains (1) summary
      cd01629
      Location:1 → 146
      HAD_EP; Enolase-phosphatase similar to human enolase-phosphatase E1 and and Xanthomonas oryzae pv. Oryzae enolase-phosphatase Xep

    2. NM_021204.5 → NP_067027.1  enolase-phosphatase E1 isoform 1

      See identical proteins and their annotated locations for NP_067027.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC067942, AW470971, BC065815, DA067292
      Consensus CDS
      CCDS3594.1
      UniProtKB/Swiss-Prot
      Q7Z4C5, Q9BVC2, Q9UHY7
      Related
      ENSP00000273920.3, ENST00000273920.8
      Conserved Domains (1) summary
      cd01629
      Location:12 → 234
      HAD_EP; Enolase-phosphatase similar to human enolase-phosphatase E1 and and Xanthomonas oryzae pv. Oryzae enolase-phosphatase Xep

    RNA

    1. NR_120457.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' terminal exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC067942, AW470971, BC001317, DA067292
      Related
      ENST00000505846.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      82430590..82461177
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      85760198..85790791
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UHY7.1 GenPept UniProtKB/Swiss-Prot:Q9UHY7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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