Human Gene PHEX (ENST00000379374.5) from GENCODE V44
Description: Homo sapiens phosphate regulating endopeptidase homolog X-linked (PHEX), transcript variant 2, mRNA. (from RefSeq NM_001282754) RefSeq Summary (NM_000444): The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. Gencode Transcript: ENST00000379374.5 Gencode Gene: ENSG00000102174.10 Transcript (Including UTRs) Position: hg38 chrX:22,032,325-22,251,310 Size: 218,986 Total Exon Count: 22 Strand: + Coding Region Position: hg38 chrX:22,033,006-22,247,953 Size: 214,948 Coding Exon Count: 22
ID:PHEX_HUMAN DESCRIPTION: RecName: Full=Phosphate-regulating neutral endopeptidase; EC=3.4.24.-; AltName: Full=Metalloendopeptidase homolog PEX; AltName: Full=Vitamin D-resistant hypophosphatemic rickets protein; AltName: Full=X-linked hypophosphatemia protein; Short=HYP; FUNCTION: Probably involved in bone and dentin mineralization and renal phosphate reabsorption. COFACTOR: Binds 1 zinc ion per subunit (By similarity). SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein (Potential). 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. DISEASE: Defects in PHEX are a cause of hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]. XLHR is an X-linked dominant 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. SIMILARITY: Belongs to the peptidase M13 family. WEB RESOURCE: Name=PHEXdb; URL="http://www.phexdb.mcgill.ca/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHEX";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01431 - Peptidase family M13 PF05649 - Peptidase family M13
ModBase Predicted Comparative 3D Structure on P78562
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
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 GO:0030324 lung development GO:0031214 biomineral tissue development GO:0033280 response to vitamin D GO:0060348 bone development GO:0060416 response to growth hormone GO:0071305 cellular response to vitamin D GO:0071374 cellular response to parathyroid hormone stimulus GO:1904383 response to sodium phosphate GO:1990418 response to insulin-like growth factor stimulus
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