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    PHOSPHO1 phosphoethanolamine/phosphocholine phosphatase [ Homo sapiens (human) ]

    Gene ID: 162466, updated on 7-Oct-2018

    Summary

    Official Symbol
    PHOSPHO1provided by HGNC
    Official Full Name
    phosphoethanolamine/phosphocholine phosphataseprovided by HGNC
    Primary source
    HGNC:HGNC:16815
    See related
    Ensembl:ENSG00000173868 Vega:OTTHUMG00000161305
    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
    Expression
    Biased expression in testis (RPKM 17.3), bone marrow (RPKM 8.3) and 3 other tissues See more
    Orthologs

    Genomic context

    See PHOSPHO1 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (49223369..49230766, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (47300728..47309009, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene transfer RNA-Gln (TTG) 1-1 Neighboring gene G protein subunit gamma transducin 2 Neighboring gene ABI family member 3 Neighboring gene uncharacterized LOC105371816 Neighboring gene uncharacterized FLJ40194 Neighboring gene microRNA 6129

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
      Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
    • Glycerophospholipid metabolism, organism-specific biosystem (from KEGG)
      Glycerophospholipid metabolism, organism-specific biosystem
      Glycerophospholipid metabolism
    • Glycerophospholipid metabolism, conserved biosystem (from KEGG)
      Glycerophospholipid metabolism, conserved biosystem
      Glycerophospholipid metabolism
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
      Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
    • Synthesis of PC, organism-specific biosystem (from REACTOME)
      Synthesis of PC, organism-specific biosystemDe novo (Kennedy pathway) synthesis of phosphatidylcholine (PC) involves phosphorylation of choline (Cho) to phosphocholine (PCho) followed by condensing with cytidine triphosphate (CTP) to form CDP-...
    • Synthesis of PE, organism-specific biosystem (from REACTOME)
      Synthesis of PE, organism-specific biosystemDe novo (Kennedy pathway) synthesis of phosphatidylethanolamine (PE) involves phosphorylation of ethanolamine (ETA) to phosphoethanolamine (PETA) followed by condensing with cytidine triphosphate (CT...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphocholine phosphatase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    phosphoethanolamine phosphatase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    pyrophosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    bone mineralization involved in bone maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    endochondral ossification IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylcholine biosynthetic process TAS
    Traceable Author Statement
    more info
     
    phosphatidylethanolamine biosynthetic process TAS
    Traceable Author Statement
    more info
     
    regulation of bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular membrane-bounded organelle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    phosphoethanolamine/phosphocholine phosphatase
    Names
    phosphatase, orphan 1
    NP_001137276.1
    NP_848595.1
    XP_016879760.1

    NCBI Reference Sequences (RefSeq)

    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_001143804.1NP_001137276.1  phosphoethanolamine/phosphocholine phosphatase isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
      Source sequence(s)
      AJ457189, BC029931
      Consensus CDS
      CCDS45726.1
      UniProtKB/Swiss-Prot
      Q8TCT1
      Related
      ENSP00000406909.1, ENST00000413580.5
      Conserved Domains (2) summary
      pfam00702
      Location:53241
      Hydrolase; haloacid dehalogenase-like hydrolase
      pfam06888
      Location:52289
      Put_Phosphatase; Putative Phosphatase
    2. NM_178500.3NP_848595.1  phosphoethanolamine/phosphocholine phosphatase isoform 2

      See identical proteins and their annotated locations for NP_848595.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a different splice site, compared to variant 1, that results in the use of an upstream start codon. The resulting protein (isoform 2) has a shorter and distinct N-terminus when it is compared to isoform 1.
      Source sequence(s)
      AJ457189
      Consensus CDS
      CCDS11547.1
      UniProtKB/Swiss-Prot
      Q8TCT1
      Related
      ENSP00000311925.4, OTTHUMP00000220006, ENST00000310544.8, OTTHUMT00000364467
      Conserved Domains (1) summary
      pfam06888
      Location:27264
      Put_Phosphatase; Putative Phosphatase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      49223369..49230766 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024271.1XP_016879760.1  phosphoethanolamine/phosphocholine phosphatase isoform X1

      Conserved Domains (2) summary
      pfam00702
      Location:111299
      Hydrolase; haloacid dehalogenase-like hydrolase
      pfam06888
      Location:110347
      Put_Phosphatase; Putative Phosphatase
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