InnateDB Protein
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IDBP-51796.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PHEX
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Protein Name
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phosphate regulating endopeptidase homolog, X-linked
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Synonyms
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HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000368682
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InnateDB Gene
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IDBG-51794 (PHEX)
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Protein Structure
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Function |
Probably involved in bone and dentin mineralization and renal phosphate reabsorption.
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Subcellular Localization |
Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
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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.
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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.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR008753
Peptidase M13, N-terminal domain
IPR018497
Peptidase M13, C-terminal domain
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PFAM |
PF05649
PF01431
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PRINTS |
PR00786
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P78562
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PhosphoSite |
PhosphoSite-P78562
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TrEMBL |
D1LZJ7
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UniProt Splice Variant |
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Entrez Gene |
5251
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UniGene |
Hs.662752
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RefSeq |
NP_001269683
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HUGO |
HGNC:8918
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OMIM |
300550
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CCDS |
CCDS14204
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HPRD |
02387
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IMGT |
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EMBL |
AD000712
AH004966
AK301528
BC105057
BC105059
GU111712
U60475
U73024
U75645
U82970
U87284
Y08111
Y08112
Y08113
Y08114
Y08115
Y08116
Y08117
Y08118
Y08119
Y08120
Y08121
Y08122
Y08123
Y08124
Y08125
Y08126
Y08127
Y08128
Y08129
Y08130
Y08131
Y08132
Y10196
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GenPept |
AAB42219
AAB47562
AAB47749
AAB51604
AAC24487
AAC50552
AAD08630
AAI05058
AAI05060
ACZ05046
BAG63030
CAA69326
CAA71258
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