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PHOSPHO1 phosphoethanolamine/phosphocholine phosphatase 1 [ Homo sapiens (human) ]

Gene ID: 162466, updated on 22-May-2022

Summary

Official Symbol
PHOSPHO1provided by HGNC
Official Full Name
phosphoethanolamine/phosphocholine phosphatase 1provided by HGNC
Primary source
HGNC:HGNC:16815
See related
Ensembl:ENSG00000173868 AllianceGenome:HGNC:16815
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
Summary
Enables pyrophosphatase activity. Predicted to be involved in bone mineralization involved in bone maturation. Predicted to act upstream of or within endochondral ossification. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 17.3), bone marrow (RPKM 8.3) and 3 other tissues See more
Orthologs
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Genomic context

See PHOSPHO1 in Genome Data Viewer
Location:
17q21.32
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (49223366..49230787, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (50086450..50093871, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (47300728..47308149, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene G protein subunit gamma transducin 2 Neighboring gene ABI family member 3 Neighboring gene uncharacterized LOC124904022 Neighboring gene uncharacterized FLJ40194

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phosphocholine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphoethanolamine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables pyrophosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in bone mineralization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in bone mineralization involved in bone maturation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in endochondral ossification IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of bone mineralization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
is_active_in extracellular membrane-bounded organelle ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
phosphoethanolamine/phosphocholine phosphatase
Names
phosphatase, orphan 1
NP_001137276.1
NP_848595.1
XP_047291460.1
XP_047291461.1
XP_047291462.1

NCBI Reference Sequences (RefSeq)

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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_001143804.2NP_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)
    AC004797, 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_178500.4NP_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)
    AC004797, AJ457189
    Consensus CDS
    CCDS11547.1
    UniProtKB/Swiss-Prot
    Q8TCT1
    Related
    ENSP00000311925.4, ENST00000310544.9
    Conserved Domains (1) summary
    pfam06888
    Location:27264
    Put_Phosphatase; Putative Phosphatase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    49223366..49230787 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435506.1XP_047291462.1  phosphoethanolamine/phosphocholine phosphatase isoform X2

  2. XM_047435505.1XP_047291461.1  phosphoethanolamine/phosphocholine phosphatase isoform X1

  3. XM_047435504.1XP_047291460.1  phosphoethanolamine/phosphocholine phosphatase isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    50086450..50093871 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)