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Protein Page:
PHEX (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

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: Protease; EC 3.4.24.-; Membrane protein, integral
Chromosomal Location of Human Ortholog: Xp22.2-p22.1
Cellular Component: Golgi apparatus; perinuclear region of cytoplasm; endoplasmic reticulum; integral to plasma membrane; 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 Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

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 1 T5-p ___MEAEtGssVEtG
0 1 S7-p _MEAEtGssVEtGKK
0 1 S8-p MEAEtGssVEtGKKA
0 1 T11-p EtGssVEtGKKANRG
0 1 T129-p SISRRRDtEAIQKAK
0 1 S140-p QKAKILYssCMNEKA
0 1 S141-p KAKILYssCMNEKAI
0 1 S186-p VWSERKFsLLQtLAt
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
0 1 Y346-p VVVRVPQyFKDLFRI
0 1 K475 KARAVLAKVGYPEFI
0 1 K496 NEDLKAIKFSEADYF
0 1 T639-p LNVKGKRtLGENIAD
0 1 S722 FRVNGAISNFEEFQK
  mouse

 
T5 ___MEAETGSTMETG
S7 _MEAETGSTMETGKG
T8 MEAETGSTMETGKGT
T11 ETGSTMETGKGTNRG
T129 SVSRRRDTEAVQKAK
S140 QKAKILYSSCMNEKA
S141 KAKILYSSCMNEKAI
S186 VWSERKFSLLQTLAT
T190 RKFSLLQTLATFRGQ
T193 SLLQTLATFRGQYSN
S244 DNTTEAKSYRDALYK
Y250 KSYRDALYKFMVDTA
T256 LYKFMVDTAVLLGAN
S264 AVLLGANSSRAEHDM
S265 VLLGANSSRAEHDMK
Y346 VVVRVPQYFKDLFRI
K475-ub KARAVLAkVGYPEFI
K496-ub NEDLKAIkFSESDYF
T639 LNVKGKRTLGENIAD
S722-p FRVNGAIsNFEEFQK
  rat

 
A5 ___MEAEAGsTMETG
S7-p _MEAEAGsTMETGKG
T8 MEAEAGsTMETGKGT
T11 EAGsTMETGKGTNRG
T129 SVSRRRDTEAVQKAK
S140 QKAKILYSSCMNEKA
S141 KAKILYSSCMNEKAI
S186 VWSERKFSLLQtLAt
T190-p RKFSLLQtLAtFRGQ
T193-p SLLQtLAtFRGQYSN
S244-p DNTTEAKsYRDALyK
Y250-p KsYRDALyKFMVDtA
T256-p LyKFMVDtAVLLGAN
S264-p AVLLGANssRAEHDM
S265-p VLLGANssRAEHDMK
Y346 VVVRVPQYFKDLFRI
K475 KARAVLAKVGYPEFI
K496 NEDLKAIKFSESDYF
T639 LNVKGKRTLGENIAD
S722 FRVNGAISNFEEFQK
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