| URN | urn:agi-llid:5251 |
|---|---|
| Connectivity | 62 |
| Name | PHEX |
| Description | phosphate regulating endopeptidase homolog, X-linked |
| Notes | 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. [provided by RefSeq] |
| Pathway | VDR Targets |
|---|---|
| ERA Pathway | |
| GR Targets |
| GO Molecular Function | metal ion binding |
|---|---|
| zinc ion binding | |
| hydrolase activity | |
| peptidase activity | |
| endopeptidase activity | |
| metallopeptidase activity | |
| metalloendopeptidase activity | |
| aminopeptidase activity |
| GO Cellular Component | membrane |
|---|---|
| plasma membrane | |
| integral to membrane | |
| integral to plasma membrane |
| GO Biological Process | cell-cell signaling |
|---|---|
| protein modification process | |
| ossification | |
| skeletal system development | |
| proteolysis |
| Group | membrane |
|---|---|
| plasma membrane | |
| integral to membrane | |
| integral to plasma membrane | |
| metal ion binding | |
| zinc ion binding | |
| hydrolase activity | |
| peptidase activity | |
| endopeptidase activity | |
| metallopeptidase activity | |
| metalloendopeptidase activity | |
| aminopeptidase activity | |
| cell-cell signaling | |
| protein modification process | |
| ossification | |
| skeletal system development | |
| proteolysis |
| Hugo ID | 8918 |
|---|
| Human chromosome position | Xp22.2-p22.1 |
|---|
| LocusLink ID | 5251 |
|---|---|
| 18675 | |
| 25512 |
| Alias | HYP |
|---|---|
| PEX | |
| XLH | |
| HPDR | |
| HYP1 | |
| HPDR1 | |
| phosphate-regulating neutral endopeptidase | |
| OTTHUMP00000023051 | |
| phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets) | |
| Gy | |
| RP23-473B8.1 | |
| X-linked phosphate regulating endopeptidase | |
| Metalloendopeptidase homolog PEX (Phosphate regulating neutral endopeptidase) (X-linked hypophosphatemia protein) (HYP) (Vitamin D-resistant hypophosphatemic rickets protein) | |
| phosphate regulating endopeptidase homolog, X-linked | |
| Phosphate regulating neutral endopeptidase on the X chromosome (X-linked hypophosphatemia XLH) | |
| PHEX | |
| Phosphate regulating gene with homologies to endopeptidases on the X | |
| phosphate regulating gene with homologies to endopeptidases on the X chromo | |
| Phosphate regulating neutral endopeptidase | |
| phosphate regulating neutral endopeptidases on the X chromosome | |
| HYP I | |
| Metalloendopeptidase homolog PEX | |
| Vitamin D-resistant hypophosphatemic rickets protein | |
| X-linked phosphate regulating endopeptidase homolog | |
| phosphate regulating neutral endopeptidase on the x chromosome | |
| X-linked hypophosphatemia gene | |
| gyro protein | |
| X-linked hypophosphatemia protein | |
| hypophosphatemia gene | |
| hypophosphatemia protein | |
| HPDR I | |
| Vitamin D-resistant hypophosphatemic rickets gene | |
| LOC237149 | |
| phosphate regulating gene with homologies to endopeptidases on the X chromosome |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 300550 |
|---|---|
| 307800 |
| Swiss-Prot Accession | P78562 |
|---|---|
| P70669 | |
| Q3TYM9 | |
| Q9ERK6 | |
| O35812 |
| Unigene ID | Hs.495834 |
|---|---|
| Mm.2529 | |
| Rn.37861 |
| KEGG ID | hsa:5251 |
|---|---|
| mmu:18675 | |
| rno:25512 |
| Swiss-Prot ID | PHEX_HUMAN |
|---|---|
| PHEX_MOUSE | |
| O35812_RAT | |
| Q3TYM9_MOUSE |
| GO ID | 0004177 |
|---|---|
| 0046872 | |
| 0004222 | |
| 0008233 | |
| 0008270 | |
| 0007267 | |
| 0001503 | |
| 0006464 | |
| 0006508 | |
| 0001501 | |
| 0005887 | |
| 0005886 | |
| 0016787 | |
| 0008237 | |
| 0016021 | |
| 0016020 | |
| 0004175 |
| IPI ID | IPI00020366 |
|---|---|
| IPI00111796 | |
| IPI00831297 | |
| IPI00476290 |
| Mouse chromosome position | X 65.4 cM |
|---|
| Homologene ID | 37310 |
|---|
| MGI ID | 107489 |
|---|
| Rat chromosome position | Xq21 |
|---|
| RGD ID | 3323 |
|---|