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PHOSPHO1 Gene

protein-coding   GIFtS: 55
GCID: GC17M047300

Phosphatase, Orphan 1

  Search for PHOSPHO1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phosphatase, Orphan 11 2
Phosphoethanolamine/Phosphocholine Phosphatase2
EC 3.1.3.753

External Ids:    HGNC: 168151   Entrez Gene: 1624662   Ensembl: ENSG000001738687   UniProtKB: Q8TCT13   

Export aliases for PHOSPHO1 gene to outside databases

Previous GC identifers: GC00U991115 GC17M049780 GC17M047642 GC17M047775 GC17M044655 GC17M042668


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PHOSPHO1 Gene:
PHOSPHO1 (phosphatase, orphan 1) is a protein-coding gene. GO annotations related to this gene include pyrophosphatase activity. An important paralog of this gene is PHOSPHO2.

UniProtKB/Swiss-Prot: PHOP1_HUMAN, Q8TCT1
Function: Phosphatase that has a high activity toward phosphoethanolamine (PEA) and phosphocholine (PCho).
Involved in the generation of inorganic phosphate for bone mineralization




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PHOSPHO1 gene promoter:
         AREB6   PPAR-gamma1   Nkx2-2   Pax-2   Lmo2   Pax-2a   Nkx2-5   PPAR-gamma2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPHOSPHO1 promoter sequence
   Search Chromatin IP Primers for PHOSPHO1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PHOSPHO1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21.32   Ensembl cytogenetic band:  17q21.32   HGNC cytogenetic band: 17q21.32

PHOSPHO1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHOSPHO1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M047300:  view genomic region     (about GC identifiers)

Start:
47,300,724 bp from pter      End:
47,308,128 bp from pter
Size:
7,405 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PHOP1_HUMAN, Q8TCT1 (See protein sequence)
Recommended Name: Phosphoethanolamine/phosphocholine phosphatase  
Size: 267 amino acids; 29713 Da
Cofactor: Magnesium
Secondary accessions: E9PAM0 Q17RU6
Alternative splicing: 3 isoforms:  Q8TCT1-1   Q8TCT1-2   Q8TCT1-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PHOSPHO1: NX_Q8TCT1

Explore proteomics data for PHOSPHO1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PHOSPHO1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001137276.1  NP_848595.1  

    ENSEMBL proteins: 
     ENSP00000311925   ENSP00000427694   ENSP00000426095   ENSP00000461392   ENSP00000427397  
     ENSP00000424406   ENSP00000406909  
    Reactome Protein details: Q8TCT1

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    Novus Biologicals PHOSPHO1 Lysate
    Sino Biological Recombinant Protein for PHOSPHO1
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for PHOSPHO1
    Cloud-Clone Corp. Proteins for PHOSPHO1

     
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    Cloud-Clone Corp. ELISAs for PHOSPHO1
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    Search eBioscience for ELISAs for PHOSPHO1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR016965 Pase_PHOSPHO-typ
     IPR006383 HAD-SF_hydro_IB_PSP-like
     IPR006384 PyrdxlP_Pase-rel
     IPR023214 HAD-like_dom

    Graphical View of Domain Structure for InterPro Entry Q8TCT1

    ProtoNet protein and cluster: Q8TCT1

    UniProtKB/Swiss-Prot: PHOP1_HUMAN, Q8TCT1
    Similarity: Belongs to the HAD-like hydrolase superfamily. PHOSPHO family


    Find genes that share domains with PHOSPHO1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PHOP1_HUMAN, Q8TCT1
    Function: Phosphatase that has a high activity toward phosphoethanolamine (PEA) and phosphocholine (PCho).
    Involved in the generation of inorganic phosphate for bone mineralization
    Catalytic activity: O-phosphoethanolamine + H(2)O = ethanolamine + phosphate
    Catalytic activity: Phosphocholine + H(2)O = choline + phosphate
    Biophysicochemical properties: Kinetic parameters: KM=3 uM for PEA; KM=11.4 uM for PCho; pH dependence: Optimum pH
    is 6.7;

         Enzyme Number (IUBMB): EC 3.1.3.751

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016462pyrophosphatase activity IDA19874193
    GO:0016791phosphatase activity ----
    GO:0046872metal ion binding IEA--
    GO:0052731phosphocholine phosphatase activity EXP--
    GO:0052732phosphoethanolamine phosphatase activity EXP--
         
    Find genes that share ontologies with PHOSPHO1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PHOSPHO1:
     Decreased cilium length after  

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Phospho1):
     behavior/neurological  growth/size/body  homeostasis/metabolism  limbs/digits/tail  mortality/aging 
     skeleton 

    Find genes that share phenotypes with PHOSPHO1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PHOSPHO1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PHOSPHO1
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PHOSPHO1 (see all 12):
    hsa-miR-2114 hsa-miR-4297 hsa-miR-1205 hsa-miR-153 hsa-miR-135b hsa-miR-9 hsa-miR-149 hsa-miR-3119
    SwitchGear 3'UTR luciferase reporter plasmidPHOSPHO1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PHOSPHO1
    Predesigned siRNA for gene silencing in human, mouse, rat PHOSPHO1

    Gene Editing
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    OriGene ORF clones in mouse, rat for PHOSPHO1
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    GenScript: all cDNA clones in your preferred vector (see all 2): PHOSPHO1 (NM_178500)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHOSPHO1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHOSPHO1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHOSPHO1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    extracellular1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    Find genes that share ontologies with PHOSPHO1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PHOSPHO1 About    
    See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Synthesis of PC0.00
    Phospholipid metabolism0.64
    Synthesis of PE0.00
    Glycerophospholipid metabolism0.62
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38


    Find genes that share SuperPaths with PHOSPHO1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for PHOSPHO1
        Synthesis of PE
    Synthesis of PC


    2 Kegg Pathways  (Kegg details for PHOSPHO1):
        Glycerophospholipid metabolism
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PHOSPHO1
    Interactions:

        Search GeneGlobe Interaction Network for PHOSPHO1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for PHOSPHO1 (ENSP000004069094) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACHEENSP000003032114STRING: ENSP00000303211
    CHATENSP000003371034STRING: ENSP00000337103
    ETNK1ENSP000002665174STRING: ENSP00000266517
    ETNK2ENSP000003561704STRING: ENSP00000356170
    PCYT1AENSP000002928234STRING: ENSP00000292823
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001958endochondral ossification IEA--
    GO:0006644phospholipid metabolic process TAS--
    GO:0006646phosphatidylethanolamine biosynthetic process TAS--
    GO:0006656phosphatidylcholine biosynthetic process TAS--
    GO:0008152metabolic process ----

    Find genes that share ontologies with PHOSPHO1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PHOSPHO1 (PHOP1)

    7 HMDB Compounds for PHOSPHO1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Choline(2-Hydroxyethyl)trimethyl ammonium (see all 19)62-49-7--
    Ethanolamine1-Amino-2-hydroxyethane (see all 28)141-43-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    O-PhosphoethanolaminePhosphoryethanolamine (see all 28)1071-23-4--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    PhosphorylcholineCholine phosphate (see all 5)3616-04-4--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for PHOSPHO1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CholineBilineurine (see all 7)62-49-7targetproduct of17139284 17016423



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PHOSPHO1 gene (2 alternative transcripts): 
    NM_001143804.1  NM_178500.3  

    Unigene Cluster for PHOSPHO1:

    Phosphatase, orphan 1
    Hs.405607  [show with all ESTs]
    Unigene Representative Sequence: NM_001143804
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000310544 ENST00000514112 ENST00000511066 ENST00000574638 ENST00000512250
    ENST00000503902 ENST00000413580(uc010wlv.1 uc002ios.2)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PHOSPHO1 (see all 12):
    hsa-miR-2114 hsa-miR-4297 hsa-miR-1205 hsa-miR-153 hsa-miR-135b hsa-miR-9 hsa-miR-149 hsa-miR-3119
    SwitchGear 3'UTR luciferase reporter plasmidPHOSPHO1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat PHOSPHO1
      QuantiFast Probe-based Assays in human, mouse, rat PHOSPHO1

    Additional mRNA sequence: 

    AJ457189.1 BC029931.1 BC117187.1 BC143884.1 

    4 DOTS entries:

    DT.75183253  DT.208069  DT.100749408  DT.100749407 

    Selected AceView cDNA sequences (see all 35):

    AW104523 BI825489 BM554336 AI376647 AW269906 AW665274 AI968404 BF515819 
    AI809978 AI056863 AI219140 AW236872 NM_178500 AI572300 AI040969 BI827569 
    AI078017 AI971889 AI208020 BC029931 AJ457189 BX090191 BF115441 AW002858 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PHOSPHO1    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5
    SP1:                                                
    SP2:                    -           -     -         
    SP3:                                -               


    ECgene alternative splicing isoforms for PHOSPHO1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PHOSPHO1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTTAAGCA
    PHOSPHO1 Expression
    About this image


    PHOSPHO1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 8 entries
             Endochondral Facial Bones
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Interscapular Brown Adipose Depot
     
     Limb (Muscoskeletal System)
             Pelvic Girdle
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    PHOSPHO1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PHOSPHO1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.405607

    UniProtKB/Swiss-Prot: PHOP1_HUMAN, Q8TCT1
    Tissue specificity: Expressed at sites of mineralization in bone and cartilage. Highly expressed in osteoblast
    cell line SaOS-2 which produces a mineralized matrix, but not in MG-63 cell line, which do not mineralize

        Custom PCR Arrays for PHOSPHO1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHOSPHO1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PHOSPHO1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Phospho11 , 5 phosphatase, orphan 11, 5 88.14(n)1
    92.89(a)1
      11 (59.01 cM)5
    2379281  NM_153104.31  NP_694744.11 
     958244995 
    chicken
    (Gallus gallus)
    Aves PHOSPHO11 phosphatase, orphan 1 65.86(n)
    61.69(a)
      395650  NM_204845.2  NP_990176.1 
    lizard
    (Anolis carolinensis)
    Reptilia PHOSPHO16
    phosphatase, orphan 1
    60(a)
    1 ↔ 1
    6(76222734-76225196)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia phospho11 phosphatase, orphan 1 56.82(n)
    56.12(a)
      100492656  XM_004918611.1  XP_004918668.1 
    zebrafish
    (Danio rerio)
    Actinopterygii phospho11 phosphatase, orphan 1 60.03(n)
    53.25(a)
      100002812  NM_001003461.1  NP_001003461.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG142126
    CG122376
    --
    27(a)
    24(a)
    many ↔ many
    many ↔ many
    X(19519767-19520638)
    X(19535223-19536899)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PS21 PS2 41.22(n)
    32.14(a)
      843632  NM_105959.2  NP_565052.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g07204001 Os01g0720400 52.25(n)
    36.94(a)
      4324704  NM_001050624.1  NP_001044089.1 


    ENSEMBL Gene Tree for PHOSPHO1 (if available)
    TreeFam Gene Tree for PHOSPHO1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PHOSPHO1 gene
    PHOSPHO22  
    1 SIMAP similar gene for PHOSPHO1 using alignment to 5 protein entries:     PHOP1_HUMAN (see all proteins):
    PHOSPHO2

    Find genes that share paralogs with PHOSPHO1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for PHOSPHO1
    PGOHUM00000243736


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PHOSPHO1 (see all 144)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1908342301,2
    --42675977(+) GGCGCA/GATCTC 2 -- us2k10--------
    rs756551881,2
    F--42676223(+) AAGAAA/GTTGAG 2 -- us2k11Minor allele frequency- G:0.05WA 118
    rs713793421,2
    C--42676270(+) GTGCCC/TTGGAG 2 -- us2k14Minor allele frequency- T:0.04NA WA 242
    rs345802971,2
    C,F--42676373(+) ATAACT/CTCCTT 2 -- us2k15Minor allele frequency- C:0.05NA WA 244
    rs116547761,2
    C,H--42676449(+) AAGCTC/TGTGGG 2 -- us2k15Minor allele frequency- T:0.14NA WA EA 362
    rs1925182021,2
    C--47301165(+) GGGGAC/GTTCTT 2 -- ut310--------
    rs98899941,2
    C--47301268(+) GGAGAT/AGTTCC 2 -- ut315Minor allele frequency- A:0.21NA WA 244
    rs1172839091,2
    F--47301362(+) CCGCGA/GTGGGT 2 -- ut311Minor allele frequency- G:0.01NA 120
    rs1447810921,2
    C,F--47302083(+) GTTTTG/TCCACA 4 E A mis11Minor allele frequency- T:0.00NA 3982
    rs2021933371,2
    --47302191(+) AGACGC/TGCTGC 4 H R mis10--------

    HapMap Linkage Disequilibrium report for PHOSPHO1 (47300724 - 47308128 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PHOSPHO1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2074CNV Insertion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PHOSPHO1
    DNA2.0 Custom Variant and Variant Library Synthesis for PHOSPHO1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with PHOSPHO1           About GenesLikeMe

    Genetic Association Database (GAD): PHOSPHO1
    Human Genome Epidemiology (HuGE) Navigator: PHOSPHO1 (2 documents)

    Export disorders for PHOSPHO1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PHOSPHO1 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with PHOSPHO1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal localization of the chicken and mammalian orthologues of the orphan phosphatase PHOSPHO1 gene. (PubMed id 12464021)1, 2, 3 Houston B.... Farquharson C. (Anim. Genet. 2002)
    2. PHOSPHO1 -- a novel phosphatase specifically expressed at sites of mineralisation in bone and cartilage. (PubMed id 15050893)1, 2, 9 Houston B.... Farquharson C. (Bone 2004)
    3. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    4. Identification of a novel splice variant of the haloacid dehalogenase: PHOSPHO1. (PubMed id 18471996)1, 2 Roberts S.J.... Farquharson C. (Biochem. Biophys. Res. Commun. 2008)
    5. Probing the substrate specificities of human PHOSPHO1 and PHOSPHO2. (PubMed id 16054448)1, 2 Roberts S.J.... Farquharson C. (Biochim. Biophys. Acta 2005)
    6. Human PHOSPHO1 exhibits high specific phosphoethanolamine and phosphocholine phosphatase activities. (PubMed id 15175005)1, 2 Roberts S.J.... Farquharson C. (Biochem. J. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Comparative modelling of human PHOSPHO1 reveals a new group of phosphatases within the haloacid dehalogenase superfamily. (PubMed id 14983068)1, 2 Stewart A.J.... Farquharson C. (Protein Eng. 2003)
    9. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PubMed id 23535732)1 Eeles R.A....Easton D.F. (Nat. Genet. 2013)
    10. Kinetic analysis of substrate utilization by native and TNAP-, NPP1-, or PHOSPHO1-deficient matrix vesicles. (PubMed id 19874193)1 Ciancaglini P....MillA!n J.L. (J. Bone Miner. Res. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 162466 HGNC: 16815 AceView: PHOSPHO1 Ensembl:ENSG00000173868 euGenes: HUgn162466
    ECgene: PHOSPHO1 Kegg: 162466 H-InvDB: PHOSPHO1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PHOSPHO1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PHOSPHO1 gene:
    Search GeneIP for patents involving PHOSPHO1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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