phex phosphate regulating endopeptidase homolog, X-linked [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: phexprovided by ZNC
Official Full Name: phosphate regulating endopeptidase homolog, X-linkedprovided by ZNC
Primary source: ZFIN:ZDB-GENE-030103-2
See related: Ensembl:ENSDARG00000062363 AllianceGenome:ZFIN:ZDB-GENE-030103-2
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: wu:fx03e08
Summary: Predicted to enable metalloendopeptidase activity. Predicted to be involved in protein processing. Predicted to act upstream of or within proteolysis. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in lapillus. 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]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 24

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	24	NC_007135.7 (25404358..25442342, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	24	NC_007135.6 (25259407..25297391, complement)

Chromosome 24 - NC_007135.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Gene Ontology Provided by ZFIN

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 metalloendopeptidase activity	IEA Inferred from Electronic Annotation 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
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation 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 gene with homologues to endopeptidases on the X chromosome

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_001089349.2 → NP_001082818.2 phosphate-regulating neutral endopeptidase PHEX isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region which results in the use of an alternate start codon compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1.

Source sequence(s)

BX537285, EH497767, EH524048, EH553890

UniProtKB/TrEMBL

A0A286Y855, A0A8M1NCV3

Related

ENSDARP00000143323.1, ENSDART00000177140.2

Conserved Domains (2) summary

cd08662
Location:54 → 725

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

COG3590
Location:43 → 726

PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
NM_001320330.1 → NP_001307259.1 phosphate-regulating neutral endopeptidase PHEX isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BX537285

UniProtKB/TrEMBL

A0A8M1P7M9, F1R6K1

Related

ENSDARP00000084443.3, ENSDART00000090010.5

Conserved Domains (2) summary

cd08662
Location:72 → 743

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

COG3590
Location:61 → 744

PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]