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Phex phosphate regulating endopeptidase homolog, X-linked [ Mus musculus (house mouse) ]

Gene ID: 18675, updated on 21-Apr-2024

Summary

Official Symbol
Phexprovided by MGI
Official Full Name
phosphate regulating endopeptidase homolog, X-linkedprovided by MGI
Primary source
MGI:MGI:107489
See related
Ensembl:ENSMUSG00000057457 AllianceGenome:MGI:107489
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
Gy; Hyp; PEX; HPDR; HPDR1
Summary
Predicted to enable metalloendopeptidase activity. Acts upstream of or within bone mineralization; odontogenesis; and organophosphate metabolic process. Located in Golgi apparatus; endoplasmic reticulum; and perinuclear region of cytoplasm. Is expressed in several structures, including chondrocranium; epidermis; limb; liver; and tooth. Used to study X-linked dominant hypophosphatemic rickets and otitis media. Human ortholog(s) of this gene implicated in X-linked dominant hypophosphatemic rickets. Orthologous to human PHEX (phosphate regulating endopeptidase homolog X-linked). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in limb E14.5 (RPKM 1.5), CNS E18 (RPKM 0.2) and 7 other tissues See more
Orthologs
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Genomic context

Location:
X F4; X 72.38 cM
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (155945071..156198282, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (157162075..157415286, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 57682 Neighboring gene STARR-seq mESC enhancer starr_48147 Neighboring gene STARR-seq mESC enhancer starr_48148 Neighboring gene succinate-Coenzyme A ligase, GDP-forming, beta subunit pseudogene Neighboring gene STARR-seq mESC enhancer starr_48149 Neighboring gene predicted gene, 54064 Neighboring gene predicted gene, 52451 Neighboring gene STARR-seq mESC enhancer starr_48151 Neighboring gene predicted gene, 25795 Neighboring gene aldolase B, fructose-bisphosphate pseudogene Neighboring gene predicted gene, 24281 Neighboring gene STARR-seq mESC enhancer starr_48152 Neighboring gene spermine synthase

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables metallopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within biomineral tissue development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within odontogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within organophosphate metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein processing IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in proteolysis ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
phosphate-regulating neutral endopeptidase PHEX
Names
Metalloendopeptidase homolog PEX (Phosphate regulating neutral endopeptidase) (X-linked hypophosphatemia protein) (HYP) (Vitamin D-resistant hypophosphatemic rickets protein)
X-linked hypophosphatemia protein
X-linked phosphate regulating endopeptidase
phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)
phosphate regulating neutral endopeptidase
vitamin D-resistant hypophosphatemic rickets protein

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_011077.2NP_035207.1  phosphate-regulating neutral endopeptidase PHEX

    See identical proteins and their annotated locations for NP_035207.1

    Status: VALIDATED

    Source sequence(s)
    AK158481, CT572987, U49908
    Consensus CDS
    CCDS30497.1
    UniProtKB/Swiss-Prot
    P70669, P97439
    UniProtKB/TrEMBL
    A2ICR0, Q3TYM9
    Related
    ENSMUSP00000078863.5, ENSMUST00000079945.11
    Conserved Domains (2) summary
    cd08662
    Location:74747
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:67741
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    155945071..156198282 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)