InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PHEX

Summary

InnateDB Protein

IDBP-51796.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PHEX

Protein Name

phosphate regulating endopeptidase homolog, X-linked

Synonyms

HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH;

Species

Homo sapiens

Ensembl Protein

ENSP00000368682

InnateDB Gene

IDBG-51794 (PHEX)

Protein Structure

UniProt Annotation

Function

Probably involved in bone and dentin mineralization and renal phosphate reabsorption.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.

Disease Associations

Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]: A disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in 20000. {ECO:0000269PubMed:10439971, ECO:0000269PubMed:10737991, ECO:0000269PubMed:11004247, ECO:0000269PubMed:9097956, ECO:0000269PubMed:9106524, ECO:0000269PubMed:9199930, ECO:0000269PubMed:9768646, ECO:0000269PubMed:9768674}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Lymphocytes and fetal brain; not in adult brain, placenta, skeletal muscle and pancreas; not in adult and fetal heart, lung, liver and kidney.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004177	aminopeptidase activity
GO:0004222	metalloendopeptidase activity
GO:0008270	zinc ion binding

Biological Process

GO:0001501	skeletal system development
GO:0006464	cellular protein modification process
GO:0006508	proteolysis
GO:0007267	cell-cell signaling
GO:0019637	organophosphate metabolic process
GO:0030282	bone mineralization

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0048471	perinuclear region of cytoplasm