P70669
PR
Gene name |
Phex (Hyp, Pex) |
Protein name |
Phosphate-regulating neutral endopeptidase PHEX |
Names |
Metalloendopeptidase homolog PEX, Phosphate regulating neutral endopeptidase, Vitamin D-resistant hypophosphatemic rickets protein, X-linked hypophosphatemia protein, HYP |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:18675 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P70669
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P70669-F1 | Predicted | AlphaFoldDB |
46 variants for P70669
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3389548563 | 28 | G>D | No | EVA | |
| rs3412026631 | 61 | E>G | No | EVA | |
| rs3389539107 | 61 | E>K | No | EVA | |
| rs3389537614 | 109 | H>Y | No | EVA | |
| rs3412348762 | 120 | E>* | No | EVA | |
| rs3412025135 | 121 | K>E | No | EVA | |
| rs3411637236 | 121 | K>N | No | EVA | |
| rs3411637202 | 121 | K>T | No | EVA | |
| rs3411637192 | 124 | S>R | No | EVA | |
| rs3412562379 | 127 | R>W | No | EVA | |
| rs3411138091 | 142 | C>F | No | EVA | |
| rs3412823259 | 144 | N>H | No | EVA | |
| rs3412442478 | 144 | N>K | No | EVA | |
| rs3411138086 | 165 | F>L | No | EVA | |
| rs3412383248 | 180 | W>C | No | EVA | |
| rs3412823161 | 180 | W>L | No | EVA | |
| rs3412025165 | 182 | E>Q | No | EVA | |
| rs3411138060 | 182 | E>V | No | EVA | |
| rs3412383272 | 183 | R>S | No | EVA | |
| rs3412823065 | 183 | R>T | No | EVA | |
| rs3412383187 | 317 | Y>D | No | EVA | |
| rs3412555410 | 330 | L>M | No | EVA | |
| rs3389537612 | 353 | I>T | No | EVA | |
| rs3389532543 | 354 | L>I | No | EVA | |
| rs3389532519 | 360 | K>I | No | EVA | |
| rs3412025054 | 371 | V>D | No | EVA | |
| rs3389574678 | 441 | G>D | No | EVA | |
| rs3389581725 | 464 | K>N | No | EVA | |
| rs3389537676 | 481 | F>Y | No | EVA | |
| rs3389581354 | 482 | I>V | No | EVA | |
| rs3389579702 | 498 | S>L | No | EVA | |
| rs3389548596 | 523 | K>T | No | EVA | |
| rs3413091495 | 589 | N>I | No | EVA | |
| rs3389537615 | 589 | N>K | No | EVA | |
| rs3412552188 | 600 | D>V | No | EVA | |
| rs3389592958 | 618 | M>I | No | EVA | |
| rs3389589544 | 621 | Q>H | No | EVA | |
| rs3412820145 | 659 | K>* | No | EVA | |
| rs3412379614 | 662 | N>H | No | EVA | |
| rs3412463902 | 675 | G>V | No | EVA | |
| rs3412463826 | 678 | F>C | No | EVA | |
| rs3389592843 | 709 | A>D | No | EVA | |
| rs3389589482 | 710 | H>Y | No | EVA | |
| rs3389579634 | 714 | Q>* | No | EVA | |
| rs3389581276 | 720 | A>G | No | EVA | |
| rs248861362 | 732 | N>K | No | EVA |
No associated diseases with P70669
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| metalloendopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| bone development | The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. |
| bone mineralization | The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue. |
| cellular response to parathyroid hormone stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a parathyroid hormone stimulus. |
| cellular response to vitamin D | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus. |
| lung development | The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. |
| odontogenesis | The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. |
| organophosphate metabolic process | The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. |
| protein processing | Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| response to growth hormone | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth hormone stimulus. Growth hormone is a peptide hormone that binds to the growth hormone receptor and stimulates growth. |
| response to insulin-like growth factor stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin-like growth factor stimulus. |
| response to sodium phosphate | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sodium phosphate stimulus. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P42892 | ECE1 | Endothelin-converting enzyme 1 | Homo sapiens (Human) | PR |
| P78562 | PHEX | Phosphate-regulating neutral endopeptidase PHEX | Homo sapiens (Human) | PR |
| P0C1T0 | Mmel1 | Membrane metallo-endopeptidase-like 1 | Rattus norvegicus (Rat) | PR |
| Q22523 | nep-21 | Neprilysin-21 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAETGSTME | TGKGTNRGIR | IALALFIGGT | LVLGTLLFLV | SQGLLSFQAK | QEYCLKPECI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EAAAAIMSKV | NLSVDPCENF | FRFACDGWIS | NNPIPEDMPS | YGVYPWLRHN | VDLKLKALLE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KSVSRRRDTE | AVQKAKILYS | SCMNEKAIEK | ADAKPLLHIL | RHSPFRWPVL | EANIGPEGVW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SERKFSLLQT | LATFRGQYSN | SVFIRLYVSP | DDKASNEHIL | KLDQATLSLA | VREDFLDNTT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EAKSYRDALY | KFMVDTAVLL | GANSSRAEHD | MKSVLRLEIK | IAEIMIPHEN | RTSEAMYNKM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NISELSAMIP | QFDWLGYIKK | VIDTRLYPHL | KDIGPSENVV | VRVPQYFKDL | FRILGAERKK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TIANYLVWRM | VYSRIPNLSR | RFQYRWLEFS | RVIQGTTTLL | PQWDKCVNFI | ESALPYVVGK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MFVNVHFQED | KKEMMEELIE | GVRWAFIDML | EKENEWMDAG | TKRKAQEKAR | AVLAKVGYPE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FIMNDTYVNE | DLKAIKFSES | DYFGNVLQTR | KYLAQSDFFW | LRKAVPKTEW | FTNPTTVNAF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YSASTNQIRF | PAGELQKPFF | WGTEYPRSLS | YGAIGVIVGH | EFTHGFDNNG | RKYDKNGNLD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PWWSVESEEK | FKEKTKCMIN | QYSNYYWKKA | GLNVKGKRTL | GENIADNGGL | REAFRAYRKW |
| 670 | 680 | 690 | 700 | 710 | 720 |
| INDRRQGVEE | PLLPGITFTN | NQLFFLSYAH | VRCNSYRPEA | AREQVQIGAH | SPPQFRVNGA |
| 730 | 740 | ||||
| ISNFEEFQKA | FNCPRNSTMN | RGADSCRLW |