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

Gene ID: 18675, updated on 17-Aug-2021

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
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; HPD; Hyp; PEX; HPDR; HPDR1
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

See Phex in Genome Data Viewer
Location:
X F4; X 72.38 cM
Exon count:
22
Annotation release Status Assembly Chr Location
109 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)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) X NC_000086.6 (153596618..153853218, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene U2 spliceosomal RNA Neighboring gene succinate-Coenzyme A ligase, GDP-forming, beta subunit pseudogene Neighboring gene predicted gene, 54064 Neighboring gene predicted gene, 52451 Neighboring gene predicted gene, 25795 Neighboring gene aldolase B, fructose-bisphosphate pseudogene Neighboring gene predicted gene, 24281 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

Homology

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
PubMed 
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
PubMed 
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 integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 

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
    UniProtKB/TrEMBL
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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)
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