Phospho1 phosphatase, orphan 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Phospho1provided by MGI
Official Full Name: phosphatase, orphan 1provided by MGI
Primary source: MGI:MGI:2447348
See related: Ensembl:ENSMUSG00000050860 AllianceGenome:MGI:2447348
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Phospo1; D11Moh36
Summary: Predicted to enable phosphocholine phosphatase activity; phosphoethanolamine phosphatase activity; and pyrophosphatase activity. Involved in bone mineralization. Acts upstream of or within bone mineralization involved in bone maturation and endochondral ossification. Located in extracellular matrix and extracellular membrane-bounded organelle. Is expressed in several structures, including jaw; limb; liver; skeleton; and spleen. Orthologous to human PHOSPHO1 (phosphoethanolamine/phosphocholine phosphatase 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in testis adult (RPKM 117.8), duodenum adult (RPKM 99.5) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 59.01 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (95715326..95722966)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (95824500..95832140)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Increased PHOSPHO1 and alkaline phosphatase expression during the anabolic bone response to intermittent parathyroid hormone delivery.
Title: Increased PHOSPHO1 and alkaline phosphatase expression during the anabolic bone response to intermittent parathyroid hormone delivery.
Increased PHOSPHO1 expression mediates cortical bone mineral density in renal osteodystrophy.
Title: Increased PHOSPHO1 expression mediates cortical bone mineral density in renal osteodystrophy.
Phosphatase orphan 1 inhibits myoblast proliferation and promotes myogenic differentiation.
Title: Phosphatase orphan 1 inhibits myoblast proliferation and promotes myogenic differentiation.
Phosphocholine accumulation and PHOSPHO1 depletion promote adipose tissue thermogenesis.
Title: Phosphocholine accumulation and PHOSPHO1 depletion promote adipose tissue thermogenesis.
Osteoclastic resorption of the uncalcified matrix in Phospho1 KO mice was attenuated compared with surrounding normally mineralised bone
Title: A distinctive patchy osteomalacia characterises Phospho1-deficient mice.
These data support the involvement of phosphate transporter 1, hereafter referred to as Pi T-1, in the initiation of skeletal mineralization and provide compelling evidence that PHOSPHO1 function is involved in MV biogenesis
Title: Skeletal Mineralization Deficits and Impaired Biogenesis and Function of Chondrocyte-Derived Matrix Vesicles in Phospho1(-/-) and Phospho1/Pi t1 Double-Knockout Mice.
role in mineralization of alveolar bone and cellular cementum
Title: Role of PHOSPHO1 in Periodontal Development and Function.
Deficiency in PHOSPHO1 exerts modifications in bone architecture that are transient and depend upon age.
Title: Phospho1 deficiency transiently modifies bone architecture yet produces consistent modification in osteocyte differentiation and vascular porosity with ageing.
ablation of the OPN gene, Spp1, leads to improvements in the skeletal phenotype in Phospho1(-/-) as they age
Title: Ablation of osteopontin improves the skeletal phenotype of phospho1(-/-) mice.
mineralization abnormalities of dentin; reduced overall mineralization with decreased matrix vesicle mineralization in the Phospho1(-/-) mice; almost complete absence of matrix vesicles in mice; further reduction in mineralization.
Title: Compounded PHOSPHO1/ALPL deficiencies reduce dentin mineralization.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:488471

G38028 (e-PCR)
- UniSTS:105016

NoName (e-PCR)
- UniSTS:494068

Gene Ontology Provided by MGI

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
enables phosphocholine phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphocholine phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphoethanolamine phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphoethanolamine phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables pyrophosphatase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone mineralization involved in bone maturation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within bone mineralization involved in bone maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endochondral ossification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of bone mineralization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular matrix	ISO Inferred from Sequence Orthology more info	PubMed
located_in extracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular membrane-bounded organelle	IMP Inferred from Mutant Phenotype more info	PubMed
located_in extracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: phosphoethanolamine/phosphocholine phosphatase

NP_694744.1

EC 3.1.3.75

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.