| URN | urn:agi-llid:51360 |
|---|---|
| Connectivity | 13 |
| Name | Mbtps2 |
| Description | membrane-bound transcription factor peptidase, site 2 |
| Notes | This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response. |
| Pathway | sterol regulatory element-binding protein signaling pathway |
|---|
| GO Molecular Function | metal ion binding |
|---|---|
| zinc ion binding | |
| peptidase activity | |
| metalloendopeptidase activity |
| GO Cellular Component | membrane |
|---|---|
| cytoplasm | |
| integral to membrane |
| GO Biological Process | proteolysis |
|---|---|
| steroid metabolic process | |
| cholesterol metabolic process |
| Group | proteolysis |
|---|---|
| steroid metabolic process | |
| cholesterol metabolic process | |
| metal ion binding | |
| zinc ion binding | |
| peptidase activity | |
| metalloendopeptidase activity | |
| membrane | |
| cytoplasm | |
| integral to membrane |
| MedScan ID | 51360 |
|---|
| Hugo ID | 15455 |
|---|
| Human chromosome position | Xp22.12-p22.11 |
|---|---|
| Xp22.13 | |
| Xp22.1-p22.2 |
| LocusLink ID | 51360 |
|---|---|
| 270669 | |
| 302705 |
| Alias | S2P |
|---|---|
| IFAP | |
| FLJ32174 | |
| membrane-bound transcription factor site-2 protease | |
| endopeptidase S2P | |
| OTTHUMP00000023047 | |
| SREBPs intramembrane protease | |
| membrane-bound transcription factor protease, site 2 | |
| sterol regulatory element-binding proteins intramembrane protease | |
| AI662535 | |
| MGC25655 | |
| 9630032G22Rik | |
| RP23-22J3.5 | |
| site-2 protease | |
| S2P endopeptidase | |
| OTTMUSP00000020911 | |
| LRRGT00063 | |
| 9630032G22 | |
| LOC203411 | |
| LOC675926 | |
| MBTPS2 | |
| membrane-bound transcription factor peptidase, site 2 | |
| membrane-bound transcription factor protease, site II | |
| OTTHUMP00000023046 | |
| rikemembrane-bound transcription factor protease, site 2 | |
| rikemembrane-bound transcription factor protease, site II | |
| S2P protein | |
| Sterol-regulatory element-binding proteins intramembrane protease | |
| RIKEN cDNA 9630032G22 gene | |
| MBTPS2s | |
| hypothetical protein MGC25655 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 300294 |
|---|---|
| 308205 |
| Mouse chromosome position | X |
|---|---|
| X F4 |
| GO ID | 0046872 |
|---|---|
| 0004222 | |
| 0008233 | |
| 0008203 | |
| 0006508 | |
| 0008202 | |
| 0005737 | |
| 0016021 | |
| 0016020 | |
| 0008270 | |
| 0006629 | |
| 0016787 | |
| 0008237 | |
| 0003677 | |
| 0003676 | |
| 0006355 | |
| 0006350 | |
| 0005622 | |
| 0005634 |
| Rat chromosome position | Xq21 |
|---|
| Swiss-Prot Accession | O43462 |
|---|---|
| Q8CHX6 | |
| Q8C5R6 | |
| Q4V8H3 | |
| A2AC85 | |
| Q9UM70 | |
| Q9UMD3 |
| Unigene ID | Hs.443490 |
|---|---|
| Mm.37577 | |
| Rn.212224 | |
| Hs.585245 |
| KEGG ID | hsa:51360 |
|---|---|
| mmu:270669 | |
| rno:302705 |
| EC Number | 3.4.24.85 |
|---|
| Swiss-Prot ID | MBTP2_MOUSE |
|---|---|
| MBTP2_HUMAN | |
| A2AC85_MOUSE |
| Cell Localization | Membrane |
|---|
| IPI ID | IPI00229772 |
|---|---|
| IPI00328263 | |
| IPI00642939 | |
| IPI00225988 | |
| IPI00830985 | |
| IPI00830893 | |
| IPI00391811 | |
| IPI00559067 |
| Homologene ID | 9287 |
|---|
| RGD ID | 1566171 |
|---|
| MGI ID | 2444506 |
|---|