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

Gene ID: 58478, updated on 14-Nov-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, Nov 2024]
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_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (82430590..82461177)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (85760198..85790791)
RS_2024_09 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 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. 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
  4. Enolase-phosphatase 1 acts as an oncogenic driver in glioma. Wang B, et al. J Cell Physiol, 2021 Feb. PMID 32654229
  5. 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

See all (31) 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)

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 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_2024_08

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

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