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Aliases for PHOSPHO1 Gene

Aliases for PHOSPHO1 Gene

  • Phosphoethanolamine/Phosphocholine Phosphatase 2 3 5
  • Phosphatase, Orphan 1 2
  • EC 3.1.3.75 4

External Ids for PHOSPHO1 Gene

Previous GeneCards Identifiers for PHOSPHO1 Gene

  • GC00U991115
  • GC17M049780
  • GC17M047642
  • GC17M047775
  • GC17M044655
  • GC17M047300
  • GC17M042668

Summaries for PHOSPHO1 Gene

GeneCards Summary for PHOSPHO1 Gene

PHOSPHO1 (Phosphoethanolamine/Phosphocholine Phosphatase) is a Protein Coding gene. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include phosphatase activity and phosphocholine phosphatase activity. An important paralog of this gene is PHOSPHO2.

UniProtKB/Swiss-Prot for PHOSPHO1 Gene

  • Phosphatase that has a high activity toward phosphoethanolamine (PEA) and phosphocholine (PCho). Involved in the generation of inorganic phosphate for bone mineralization.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHOSPHO1 Gene

Genomics for PHOSPHO1 Gene

Regulatory Elements for PHOSPHO1 Gene

Enhancers for PHOSPHO1 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
GH17F049190 1.9 FANTOM5 Ensembl ENCODE 12.6 +39.0 38992 4.2 CREB3L1 MLX DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 ENSG00000262837 FLJ45513 ENSG00000251461 LOC105371815 GIP LINC02075 RN7SL125P B4GALNT2 PHOSPHO1 ENSG00000236472
GH17F049259 1.5 FANTOM5 Ensembl ENCODE 13 -28.7 -28728 2.0 TBP ZFP64 INSM2 ZNF76 KLF17 SIN3A ZNF2 ZEB1 ZNF391 FOS PHOSPHO1 ENSG00000250186 RPL21P124 PHB ZNF652 UBE2Z CALCOCO2 GC17P049267 FLJ40194
GH17F049387 1.6 FANTOM5 Ensembl ENCODE 10.1 -158.1 -158109 5.2 PKNOX1 ATF1 ZNF133 FEZF1 DMAP1 GTF3C2 GATA2 FOS KAT8 HMBOX1 ZNF652 ENSG00000262837 LOC102724596 PHB ENSG00000207127 FLJ45513 ABI3 SNF8 PHOSPHO1 GNGT2
GH17F049251 1.1 Ensembl ENCODE 12.4 -20.6 -20618 1.9 HDAC1 PKNOX1 NFXL1 GATA2 FOS ZNF263 CEBPB ZEB2 SMARCA4 PBX2 PHOSPHO1 ABI3 GNGT2 ZNF652 FLJ40194 GC17P049267
GH17F049235 0.9 FANTOM5 Ensembl 13.3 -4.5 -4543 1.9 BCOR CTCF ZNF316 PKNOX1 IKZF1 ZBTB33 MAFK PHOSPHO1 ABI3 GNGT2 ENSG00000238804 RNU1-42P ENSG00000230532 SNF8 LOC105371811 HOXB13 ZNF652
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PHOSPHO1 on UCSC Golden Path with GeneCards custom track

Promoters for PHOSPHO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001348408 1092 1601 ATF1 SIN3A NFXL1 RFX5 ZNF143 FOS ZNF391 CREM EGR2 ZNF263

Genomic Location for PHOSPHO1 Gene

Chromosome:
17
Start:
49,223,362 bp from pter
End:
49,231,692 bp from pter
Size:
8,331 bases
Orientation:
Minus strand

Genomic View for PHOSPHO1 Gene

Genes around PHOSPHO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHOSPHO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHOSPHO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHOSPHO1 Gene

Proteins for PHOSPHO1 Gene

  • Protein details for PHOSPHO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TCT1-PHOP1_HUMAN
    Recommended name:
    Phosphoethanolamine/phosphocholine phosphatase
    Protein Accession:
    Q8TCT1
    Secondary Accessions:
    • E9PAM0
    • Q17RU6

    Protein attributes for PHOSPHO1 Gene

    Size:
    267 amino acids
    Molecular mass:
    29713 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PHOSPHO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHOSPHO1 Gene

Post-translational modifications for PHOSPHO1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PHOSPHO1 Gene

Domains & Families for PHOSPHO1 Gene

Gene Families for PHOSPHO1 Gene

Protein Domains for PHOSPHO1 Gene

Suggested Antigen Peptide Sequences for PHOSPHO1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TCT1

UniProtKB/Swiss-Prot:

PHOP1_HUMAN :
  • Belongs to the HAD-like hydrolase superfamily. PHOSPHO family.
Family:
  • Belongs to the HAD-like hydrolase superfamily. PHOSPHO family.
genes like me logo Genes that share domains with PHOSPHO1: view

Function for PHOSPHO1 Gene

Molecular function for PHOSPHO1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3 uM for PEA {ECO:0000269 PubMed:15175005}; KM=11.4 uM for PCho {ECO:0000269 PubMed:15175005}; pH dependence: Optimum pH is 6.7. {ECO:0000269 PubMed:15175005};
UniProtKB/Swiss-Prot CatalyticActivity:
O-phosphoethanolamine + H(2)O = ethanolamine + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
Phosphocholine + H(2)O = choline + phosphate.
UniProtKB/Swiss-Prot Function:
Phosphatase that has a high activity toward phosphoethanolamine (PEA) and phosphocholine (PCho). Involved in the generation of inorganic phosphate for bone mineralization.

Enzyme Numbers (IUBMB) for PHOSPHO1 Gene

Gene Ontology (GO) - Molecular Function for PHOSPHO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016462 pyrophosphatase activity IDA 19874193
GO:0016787 hydrolase activity IEA --
GO:0016791 phosphatase activity IBA --
GO:0046872 metal ion binding IEA --
GO:0052731 phosphocholine phosphatase activity EXP 15175005
genes like me logo Genes that share ontologies with PHOSPHO1: view
genes like me logo Genes that share phenotypes with PHOSPHO1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PHOSPHO1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PHOSPHO1 Gene

Localization for PHOSPHO1 Gene

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 PHOSPHO1 gene
Compartment Confidence
cytosol 5
extracellular 3
mitochondrion 2
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PHOSPHO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005829 cytosol TAS --
GO:0065010 extracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with PHOSPHO1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PHOSPHO1 Gene

Pathways & Interactions for PHOSPHO1 Gene

genes like me logo Genes that share pathways with PHOSPHO1: view

Pathways by source for PHOSPHO1 Gene

Interacting Proteins for PHOSPHO1 Gene

Gene Ontology (GO) - Biological Process for PHOSPHO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001958 endochondral ossification IEA --
GO:0006646 phosphatidylethanolamine biosynthetic process TAS --
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0008152 metabolic process IEA --
GO:0016311 dephosphorylation IEA --
genes like me logo Genes that share ontologies with PHOSPHO1: view

No data available for SIGNOR curated interactions for PHOSPHO1 Gene

Drugs & Compounds for PHOSPHO1 Gene

(6) Drugs for PHOSPHO1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Choline Approved Nutra Target, product of 148
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Ethanolamine Experimental Pharma 0
O-Phosphoethanolamine Experimental Pharma 0

(2) Additional Compounds for PHOSPHO1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphorylcholine
  • Choline phosphate
  • N-Trimethyl-2-aminoethylphosphonate
  • O-Phosphocholine
  • Phosphocholine
  • Phosphoryl-choline
3616-04-4
genes like me logo Genes that share compounds with PHOSPHO1: view

Transcripts for PHOSPHO1 Gene

Unigene Clusters for PHOSPHO1 Gene

Phosphatase, orphan 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PHOSPHO1 Gene

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

Relevant External Links for PHOSPHO1 Gene

GeneLoc Exon Structure for
PHOSPHO1
ECgene alternative splicing isoforms for
PHOSPHO1

Expression for PHOSPHO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PHOSPHO1 Gene

mRNA differential expression in normal tissues according to GTEx for PHOSPHO1 Gene

This gene is overexpressed in Whole Blood (x38.3) and Testis (x8.9).

Protein differential expression in normal tissues from HIPED for PHOSPHO1 Gene

This gene is overexpressed in Liver, secretome (40.6) and Heart (27.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PHOSPHO1 Gene



Protein tissue co-expression partners for PHOSPHO1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PHOSPHO1 Gene:

PHOSPHO1

SOURCE GeneReport for Unigene cluster for PHOSPHO1 Gene:

Hs.405607

mRNA Expression by UniProt/SwissProt for PHOSPHO1 Gene:

Q8TCT1-PHOP1_HUMAN
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.
genes like me logo Genes that share expression patterns with PHOSPHO1: view

Primer Products

Orthologs for PHOSPHO1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PHOSPHO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHOSPHO1 34 35
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia PHOSPHO1 34 35
  • 92.78 (n)
cow
(Bos Taurus)
Mammalia PHOSPHO1 34 35
  • 91.21 (n)
mouse
(Mus musculus)
Mammalia Phospho1 34 16 35
  • 88.14 (n)
rat
(Rattus norvegicus)
Mammalia Phospho1 34
  • 87.77 (n)
oppossum
(Monodelphis domestica)
Mammalia PHOSPHO1 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHOSPHO1 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHOSPHO1 34 35
  • 65.86 (n)
lizard
(Anolis carolinensis)
Reptilia PHOSPHO1 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phospho1 34
  • 56.82 (n)
zebrafish
(Danio rerio)
Actinopterygii phospho1 34 35
  • 60.03 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14212 35
  • 27 (a)
ManyToMany
CG12237 35
  • 24 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PS2 34
  • 41.22 (n)
rice
(Oryza sativa)
Liliopsida Os01g0720400 34
  • 52.25 (n)
Species where no ortholog for PHOSPHO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PHOSPHO1 Gene

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

Paralogs for PHOSPHO1 Gene

Paralogs for PHOSPHO1 Gene

(1) SIMAP similar genes for PHOSPHO1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for PHOSPHO1 Gene

genes like me logo Genes that share paralogs with PHOSPHO1: view

Variants for PHOSPHO1 Gene

Sequence variations from dbSNP and Humsavar for PHOSPHO1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs111292948 -- 49,226,579(+) GCCCT(A/G)TGGAA intron-variant, nc-transcript-variant
rs111769818 -- 49,228,739(+) GAGCC(A/G)AGATT intron-variant, nc-transcript-variant
rs112076708 -- 49,232,100(+) GTGAG(A/G)CCAGG upstream-variant-2KB
rs112629398 -- 49,232,716(+) GAGAC(A/G)GGGTT upstream-variant-2KB
rs113465032 -- 49,231,044(+) GCCTA(C/T)ACACC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PHOSPHO1 Gene

Variant ID Type Subtype PubMed ID
nsv2074 CNV insertion 18451855
nsv953924 CNV deletion 24416366

Variation tolerance for PHOSPHO1 Gene

Gene Damage Index Score: 1.69; 32.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHOSPHO1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHOSPHO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHOSPHO1 Gene

Disorders for PHOSPHO1 Gene

Relevant External Links for PHOSPHO1

Genetic Association Database (GAD)
PHOSPHO1
Human Genome Epidemiology (HuGE) Navigator
PHOSPHO1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHOSPHO1

No disorders were found for PHOSPHO1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PHOSPHO1 Gene

Publications for PHOSPHO1 Gene

  1. PHOSPHO1 -- a novel phosphatase specifically expressed at sites of mineralisation in bone and cartilage. (PMID: 15050893) Houston B. … Farquharson C. (Bone 2004) 3 4 22 64
  2. Chromosomal localization of the chicken and mammalian orthologues of the orphan phosphatase PHOSPHO1 gene. (PMID: 12464021) Houston B. … Farquharson C. (Anim. Genet. 2002) 2 3 4 64
  3. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges L.M. … Zmuda J.M. (J. Bone Miner. Res. 2009) 3 46 64
  4. Identification of a novel splice variant of the haloacid dehalogenase: PHOSPHO1. (PMID: 18471996) Roberts S.J. … Farquharson C. (Biochem. Biophys. Res. Commun. 2008) 3 4 64
  5. Probing the substrate specificities of human PHOSPHO1 and PHOSPHO2. (PMID: 16054448) Roberts S.J. … Farquharson C. (Biochim. Biophys. Acta 2005) 3 4 64

Products for PHOSPHO1 Gene

Sources for PHOSPHO1 Gene

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