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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. Gene Ontology (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.

Additional gene information for PHOSPHO1 Gene

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

Genomics for PHOSPHO1 Gene

GeneHancer (GH) Regulatory Elements for PHOSPHO1 Gene

Promoters and enhancers for PHOSPHO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I049230 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 556.1 +1.0 978 1.4 ATF1 ZBTB7B RFX5 ZNF335 EGR1 ZNF143 ZNF391 IKZF2 RUNX3 CREM PHOSPHO1 ABI3 LOC105371816
GH17I049190 Enhancer 1.7 FANTOM5 Ensembl ENCODE 12.6 +39.0 38953 4 CLOCK MLX DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 ZNF548 TRQ-TTG1-1 ENSG00000262837 UBE2Z FAM117A FLJ45513 ENSG00000230532 KAT7 TAC4 PICART1 CALCOCO2
GH17I049259 Enhancer 1.3 FANTOM5 Ensembl ENCODE 13 -28.8 -28797 1.9 ZFP64 SIN3A ZNF2 FOS YY2 ZNF518A ZNF592 ZNF585B KDM1A CTCF PHOSPHO1 ENSG00000250186 RPL21P124 PHB ZNF652 UBE2Z CALCOCO2 GC17P049267 FLJ40194
GH17I049387 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -157.9 -157923 4.5 ATF1 PKNOX1 ZNF133 FEZF1 DMAP1 GTF3C2 TCF12 GATA2 FOS ATF7 ZNF652 SPOP LOC102724596 ENSG00000207127 PHB ABI3 SNF8 PHOSPHO1 UBE2Z GNGT2
GH17I049251 Enhancer 1.1 Ensembl ENCODE 12.4 -20.6 -20617 1.9 HDAC1 HDGF PKNOX1 NFIB NFXL1 BMI1 FOS ATF7 ZNF263 CEBPB PHOSPHO1 GNGT2 ABI3 ZNF652 FLJ40194 GC17P049267
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PHOSPHO1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PHOSPHO1 gene promoter:

Genomic Locations for PHOSPHO1 Gene

Genomic Locations for PHOSPHO1 Gene
chr17:49,223,362-49,231,692
(GRCh38/hg38)
Size:
8,331 bases
Orientation:
Minus strand
chr17:47,300,724-47,308,128
(GRCh37/hg19)

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

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

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

Phenotypes From GWAS Catalog 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

Clone Products

No data available for Human Phenotype Ontology , Animal Models , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Plasma membrane (2)
See all subcellular structures

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

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:0016311 dephosphorylation IEA --
GO:0030500 regulation of bone mineralization 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 176
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Magnesium Approved Nutra 0
Ethanolamine 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:

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for PHOSPHO1 Gene

  • Nervous system(4.1)
  • Intestine(4)
genes like me logo Genes that share expression patterns with PHOSPHO1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PHOSPHO1 Gene

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 33 34
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia PHOSPHO1 33 34
  • 92.78 (n)
cow
(Bos Taurus)
Mammalia PHOSPHO1 33 34
  • 91.21 (n)
mouse
(Mus musculus)
Mammalia Phospho1 33 16 34
  • 88.14 (n)
rat
(Rattus norvegicus)
Mammalia Phospho1 33
  • 87.77 (n)
oppossum
(Monodelphis domestica)
Mammalia PHOSPHO1 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHOSPHO1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHOSPHO1 33 34
  • 65.86 (n)
lizard
(Anolis carolinensis)
Reptilia PHOSPHO1 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phospho1 33
  • 56.82 (n)
zebrafish
(Danio rerio)
Actinopterygii phospho1 33 34
  • 60.03 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14212 34
  • 27 (a)
ManyToMany
CG12237 34
  • 24 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PS2 33
  • 41.22 (n)
rice
(Oryza sativa)
Liliopsida Os01g0720400 33
  • 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 Variation AA Info Type
rs1000302715 -- 49,227,064(-) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000546890 -- 49,225,862(-) G/T intron_variant
rs1000641747 -- 49,225,651(-) C/T intron_variant
rs1001045272 -- 49,232,516(-) CCCC/CCC upstream_transcript_variant
rs1001046806 -- 49,231,027(-) C/G upstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for PHOSPHO1

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

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 58
  2. Chromosomal localization of the chicken and mammalian orthologues of the orphan phosphatase PHOSPHO1 gene. (PMID: 12464021) Houston B … Farquharson C (Animal genetics 2002) 2 3 4 58
  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 LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 44 58
  4. Identification of a novel splice variant of the haloacid dehalogenase: PHOSPHO1. (PMID: 18471996) Roberts SJ … Farquharson C (Biochemical and biophysical research communications 2008) 3 4 58
  5. Probing the substrate specificities of human PHOSPHO1 and PHOSPHO2. (PMID: 16054448) Roberts SJ … Farquharson C (Biochimica et biophysica acta 2005) 3 4 58

Products for PHOSPHO1 Gene

Sources for PHOSPHO1 Gene

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