Phex phosphate regulating endopeptidase X-linked [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Phexprovided by RGD
Official Full Name: phosphate regulating endopeptidase X-linkedprovided by RGD
Primary source: RGD:3323
See related: EnsemblRapid:ENSRNOG00000023440 AllianceGenome:RGD:3323
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: PEX
Summary: Predicted to enable metalloendopeptidase activity. Involved in several processes, including cellular response to parathyroid hormone stimulus; cellular response to vitamin D; and response to insulin-like growth factor stimulus. Predicted to be located in Golgi apparatus; endoplasmic reticulum; and perinuclear region of cytoplasm. Predicted to be active in plasma membrane. Biomarker of kidney failure. Human ortholog(s) of this gene implicated in X-linked dominant hypophosphatemic rickets. Orthologous to human PHEX (phosphate regulating endopeptidase X-linked). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in Lung (RPKM 81.5), Brain (RPKM 4.7) and 1 other tissue See more
Orthologs: human mouse all
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Genomic context

Location:: Xq21

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	X	NC_086039.1 (41422561..41671226)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	X	NC_051356.1 (37607553..37856183)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	X	NC_005120.4 (40460047..40717982)

Chromosome X - NC_086039.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The contribution of a novel PHEX gene mutation to X-linked hypophosphatemic rickets: a case report and an analysis of the gene mutation dosage effect in a rat model.
Title: The contribution of a novel PHEX gene mutation to X-linked hypophosphatemic rickets: a case report and an analysis of the gene mutation dosage effect in a rat model.
PHEX expression in the tibia and parathyroid gland is increased by chronic renal insufficiency and decreased by 1,25(OH)2D3 administration and may be influenced by PTH status
Title: Differential regulation of PHEX expression in bone and parathyroid gland by chronic renal insufficiency and 1,25-dihydroxyvitamin D3.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in bone development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within bone mineralization	ISO Inferred from Sequence Orthology more info
involved_in cellular response to parathyroid hormone stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to vitamin D	IEP Inferred from Expression Pattern more info	PubMed
involved_in lung development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within odontogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within organophosphate metabolic process	ISO Inferred from Sequence Orthology more info
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	ISO Inferred from Sequence Orthology more info
involved_in response to growth hormone	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to insulin-like growth factor stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to sodium phosphate	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to vitamin D	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: phosphate-regulating neutral endopeptidase PHEX

Names: Phosphate regulating neutral endopeptidase on the X chromosome (X-linked hypophosphatemia XLH); metalloendopeptidase homolog PEX; metalloendopeptidase homolog PEX-like; phosphate regulating endopeptidase homolog, X-linked; phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets); phosphate-regulating neutral endopeptidase

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)

NM_013004.2 → NP_037136.2 phosphate-regulating neutral endopeptidase PHEX

Status: PROVISIONAL

Source sequence(s)

JAXUCZ010000021

UniProtKB/TrEMBL

A6IPQ1, G3V723, O35812

Related

ENSRNOP00000010970.7, ENSRNOT00000010970.9

Conserved Domains (1) summary

cd08662
Location:74 → 740

M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086039.1 Reference GRCr8

Range

41422561..41671226

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039099503.2 → XP_038955431.1 phosphate-regulating neutral endopeptidase PHEX isoform X1

UniProtKB/TrEMBL

A6IPQ1, G3V723, O35812

Conserved Domains (1) summary

cd08662
Location:74 → 740

M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I