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Protein Page:
PHEX (human)

Overview
PHEX Probably involved in bone and dentin mineralization and renal phosphate reabsorption. Defects in PHEX are a cause of hypophosphatemic rickets, X-linked dominant (XLHR). 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. Belongs to the peptidase M13 family. Note: This description may include information from UniProtKB.
Protein type: EC 3.4.24.-; Protease; Membrane protein, integral
Cellular Component: Golgi apparatus; perinuclear region of cytoplasm; integral to plasma membrane; endoplasmic reticulum; plasma membrane
Molecular Function: zinc ion binding; metalloendopeptidase activity; aminopeptidase activity
Biological Process: cell-cell signaling; protein modification process; organophosphate metabolic process; proteolysis; skeletal development; bone mineralization
Reference #:  P78562 (UniProtKB)
Alt. Names/Synonyms: HPDR; HPDR1; HYP; HYP1; Metalloendopeptidase homolog PEX; PEX; PHEX; 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; Vitamin D-resistant hypophosphatemic rickets protein; X-linked hypophosphatemia protein; XLH
Gene Symbols: PHEX
Molecular weight: 86,474 Da
Basal Isoelectric point: 8.91  Predict pI for various phosphorylation states
Select Structure to View Below

PHEX

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 3 T190-p RKFSLLQtLAtFRGQ
0 3 T193-p SLLQtLAtFRGQYSN
0 1 S244 DNSTEAKSYRDALYK
0 1 Y250 KSYRDALYKFMVDTA
0 1 T256 LYKFMVDTAVLLGAN
0 1 S264 AVLLGANSSRAEHDM
0 1 S265 VLLGANSSRAEHDMK
  mouse

 
T190 RKFSLLQTLATFRGQ
T193 SLLQTLATFRGQYSN
S244 DNTTEAKSYRDALYK
Y250 KSYRDALYKFMVDTA
T256 LYKFMVDTAVLLGAN
S264 AVLLGANSSRAEHDM
S265 VLLGANSSRAEHDMK
  rat

 
T190-p RKFSLLQtLAtFRGQ
T193-p SLLQtLAtFRGQYSN
S244-p DNTTEAKsYRDALyK
Y250-p KsYRDALyKFMVDtA
T256-p LyKFMVDtAVLLGAN
S264-p AVLLGANssRAEHDM
S265-p VLLGANssRAEHDMK
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