Aliases for PHOSPHO1 Gene

Aliases for PHOSPHO1 Gene

  • Phosphoethanolamine/Phosphocholine Phosphatase 1 2 3
  • Phosphoethanolamine/Phosphocholine Phosphatase 2 3 4 5
  • Phosphatase, Orphan 1 2 3
  • 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 1) is a Protein Coding gene. Diseases associated with PHOSPHO1 include Hypophosphatasia, Childhood and Hypophosphatasia. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. 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 Summary 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 , Rfam classification and piRNA Summary for PHOSPHO1 Gene

Genomics for PHOSPHO1 Gene

GeneHancer (GH) Regulatory Elements for PHOSPHO1 Gene

Promoters and enhancers for PHOSPHO1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PHOSPHO1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PHOSPHO1

Top Transcription factor binding sites by QIAGEN in the PHOSPHO1 gene promoter:
  • AREB6
  • Lmo2
  • Nkx2-2
  • Nkx2-5
  • Pax-2
  • Pax-2a
  • Pax-4a
  • PPAR-gamma1
  • PPAR-gamma2

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)
Size:
7,405 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

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:
  • Phosphoethanolamine/phosphocholine phosphatase (PHOP1_HUMAN)

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 Function:
Phosphatase that has a high activity toward phosphoethanolamine (PEA) and phosphocholine (PCho). Involved in the generation of inorganic phosphate for bone mineralization.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + phosphoethanolamine = ethanolamine + phosphate; Xref=Rhea:RHEA:16089, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57603, ChEBI:CHEBI:58190; EC=3.1.3.75; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + phosphocholine = choline + phosphate; Xref=Rhea:RHEA:10492, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:295975; EC=3.1.3.75; Evidence=. ;.
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};

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 IEA --
GO:0046872 metal ion binding IEA --
GO:0052731 phosphocholine phosphatase activity IEA --
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 4
extracellular 3
mitochondrion 2
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 0

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:0005829 cytosol TAS --
GO:0031012 extracellular matrix IEA --
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

(7) 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 222
Choline salicylate Approved Nutra Target, product of 0
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
phosphorylcholine
  • Choline phosphate
  • CHOP
  • N-Trimethyl-2-aminoethylphosphonate
  • O-Phosphocholine
  • Phosphoryl-choline
3616-04-4
genes like me logo Genes that share compounds with PHOSPHO1: view

Transcripts for PHOSPHO1 Gene

mRNA/cDNA for PHOSPHO1 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

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 and MOPED for PHOSPHO1 Gene



Protein tissue co-expression partners for PHOSPHO1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PHOSPHO1 31 30
  • 92.78 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PHOSPHO1 31 30
  • 91.21 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Phospho1 17 31 30
  • 88.14 (n)
rat
(Rattus norvegicus)
Mammalia Phospho1 30
  • 87.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PHOSPHO1 31
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PHOSPHO1 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHOSPHO1 31 30
  • 65.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHOSPHO1 31
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phospho1 30
  • 56.82 (n)
zebrafish
(Danio rerio)
Actinopterygii phospho1 31 30
  • 60.03 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14212 31
  • 27 (a)
ManyToMany
CG12237 31
  • 24 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PS2 30
  • 41.22 (n)
rice
(Oryza sativa)
Liliopsida Os01g0720400 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PHOSPHO1: view image

Paralogs for PHOSPHO1 Gene

Paralogs for PHOSPHO1 Gene

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

  • PHOP1_HUMAN
  • D6RB58_HUMAN
  • D6RHH9_HUMAN
  • D6RIT6_HUMAN
  • I3L4N1_HUMAN

Pseudogenes.org Pseudogenes for PHOSPHO1 Gene

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

Variants for PHOSPHO1 Gene

Additional dbSNP identifiers (rs#s) for PHOSPHO1 Gene

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 and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PHOSPHO1 Gene

Disorders for PHOSPHO1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PHOSPHO1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypophosphatasia, childhood
  • childhood hypophosphatasia
hypophosphatasia
  • phosphoethanolaminuria
hypophosphatasia, adult
  • hypophosphatasia, mild
arterial calcification of infancy
  • gaci
periarthritis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PHOSPHO1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PHOSPHO1: view

No data available for 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 23 54
  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 54
  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 41 54
  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 54
  5. Probing the substrate specificities of human PHOSPHO1 and PHOSPHO2. (PMID: 16054448) Roberts SJ … Farquharson C (Biochimica et biophysica acta 2005) 3 4 54

Products for PHOSPHO1 Gene

Sources for PHOSPHO1 Gene