| UniProt ID | PTC1_HUMAN | |
|---|---|---|
| UniProt AC | Q13635 | |
| Protein Name | Protein patched homolog 1 | |
| Gene Name | PTCH1 | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 1447 | |
| Subcellular Localization |
Membrane Multi-pass membrane protein. |
|
| Protein Description | Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis.. | |
| Protein Sequence | MASAGNAAEPQDRGGGGSGCIGAPGRPAGGGRRRRTGGLRRAAAPDRDYLHRPSYCDAAFALEQISKGKATGRKAPLWLRAKFQRLLFKLGCYIQKNCGKFLVVGLLIFGAFAVGLKAANLETNVEELWVEVGGRVSRELNYTRQKIGEEAMFNPQLMIQTPKEEGANVLTTEALLQHLDSALQASRVHVYMYNRQWKLEHLCYKSGELITETGYMDQIIEYLYPCLIITPLDCFWEGAKLQSGTAYLLGKPPLRWTNFDPLEFLEELKKINYQVDSWEEMLNKAEVGHGYMDRPCLNPADPDCPATAPNKNSTKPLDMALVLNGGCHGLSRKYMHWQEELIVGGTVKNSTGKLVSAHALQTMFQLMTPKQMYEHFKGYEYVSHINWNEDKAAAILEAWQRTYVEVVHQSVAQNSTQKVLSFTTTTLDDILKSFSDVSVIRVASGYLLMLAYACLTMLRWDCSKSQGAVGLAGVLLVALSVAAGLGLCSLIGISFNAATTQVLPFLALGVGVDDVFLLAHAFSETGQNKRIPFEDRTGECLKRTGASVALTSISNVTAFFMAALIPIPALRAFSLQAAVVVVFNFAMVLLIFPAILSMDLYRREDRRLDIFCCFTSPCVSRVIQVEPQAYTDTHDNTRYSPPPPYSSHSFAHETQITMQSTVQLRTEYDPHTHVYYTTAEPRSEISVQPVTVTQDTLSCQSPESTSSTRDLLSQFSDSSLHCLEPPCTKWTLSSFAEKHYAPFLLKPKAKVVVIFLFLGLLGVSLYGTTRVRDGLDLTDIVPRETREYDFIAAQFKYFSFYNMYIVTQKADYPNIQHLLYDLHRSFSNVKYVMLEENKQLPKMWLHYFRDWLQGLQDAFDSDWETGKIMPNNYKNGSDDGVLAYKLLVQTGSRDKPIDISQLTKQRLVDADGIINPSAFYIYLTAWVSNDPVAYAASQANIRPHRPEWVHDKADYMPETRLRIPAAEPIEYAQFPFYLNGLRDTSDFVEAIEKVRTICSNYTSLGLSSYPNGYPFLFWEQYIGLRHWLLLFISVVLACTFLVCAVFLLNPWTAGIIVMVLALMTVELFGMMGLIGIKLSAVPVVILIASVGIGVEFTVHVALAFLTAIGDKNRRAVLALEHMFAPVLDGAVSTLLGVLMLAGSEFDFIVRYFFAVLAILTILGVLNGLVLLPVLLSFFGPYPEVSPANGLNRLPTPSPEPPPSVVRFAMPPGHTHSGSDSSDSEYSSQTTVSGLSEELRHYEAQQGAGGPAHQVIVEATENPVFAHSTVVHPESRHHPPSNPRQQPHLDSGSLPPGRQGQQPRRDPPREGLWPPPYRPRRDAFEISTEGHSGPSNRARWGPRGARSHNPRNPASTAMGSSVPGYCQPITTVTASASVTVAVHPPPVPGPGRNPRGGLCPGYPETDHGLFEDPHVPFHVRCERRDSKVEVIELQDVECEERPRGSSSN | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
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* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 12 | Ubiquitination | GNAAEPQDRGGGGSG CCCCCCCCCCCCCCC | 63.00 | 22817900 | |
| 13 (in isoform 2) | Phosphorylation | - | 40.17 | 25921289 | |
| 97 | Ubiquitination | LGCYIQKNCGKFLVV HCHHHHHCCCCHHHH | 24.33 | 22817900 | |
| 100 | Ubiquitination | YIQKNCGKFLVVGLL HHHHCCCCHHHHHHH | 37.41 | 16196087 | |
| 141 | N-linked_Glycosylation | GRVSRELNYTRQKIG HHHHHHHCCCCHHHC | 31.23 | UniProtKB CARBOHYD | |
| 162 | Ubiquitination | PQLMIQTPKEEGANV CCEEEECCHHHCCCE | 26.19 | 22817900 | |
| 163 | Ubiquitination | QLMIQTPKEEGANVL CEEEECCHHHCCCEE | 72.31 | 22817900 | |
| 185 | Ubiquitination | HLDSALQASRVHVYM HHHHHHHHHCEEEEE | 10.51 | 16196087 | |
| 202 | Ubiquitination | RQWKLEHLCYKSGEL CCEEHHHHHHHCCCE | 2.20 | 30230243 | |
| 250 | Ubiquitination | SGTAYLLGKPPLRWT CCCEECCCCCCCCCC | 37.52 | 16196087 | |
| 251 | Ubiquitination | GTAYLLGKPPLRWTN CCEECCCCCCCCCCC | 43.35 | 16196087 | |
| 287 | Ubiquitination | EMLNKAEVGHGYMDR HHHHHHHCCCCCCCC | 9.07 | 30230243 | |
| 312 | N-linked_Glycosylation | PATAPNKNSTKPLDM CCCCCCCCCCCCCCE | 62.64 | UniProtKB CARBOHYD | |
| 349 | N-linked_Glycosylation | IVGGTVKNSTGKLVS ECCCEEECCCCCCCH | 40.23 | UniProtKB CARBOHYD | |
| 352 | Ubiquitination | GTVKNSTGKLVSAHA CEEECCCCCCCHHHH | 22.56 | 30230243 | |
| 353 | Ubiquitination | TVKNSTGKLVSAHAL EEECCCCCCCHHHHH | 45.89 | 30230243 | |
| 362 | Phosphorylation | VSAHALQTMFQLMTP CHHHHHHHHHHHCCH | 22.32 | 25332170 | |
| 368 | Phosphorylation | QTMFQLMTPKQMYEH HHHHHHCCHHHHHHH | 35.61 | 25332170 | |
| 402 | Phosphorylation | ILEAWQRTYVEVVHQ HHHHHHHHHHHHHHH | 19.47 | 24043423 | |
| 403 | Phosphorylation | LEAWQRTYVEVVHQS HHHHHHHHHHHHHHH | 9.23 | 24043423 | |
| 410 | Phosphorylation | YVEVVHQSVAQNSTQ HHHHHHHHHHCCCCC | 12.44 | 24043423 | |
| 414 | N-linked_Glycosylation | VHQSVAQNSTQKVLS HHHHHHCCCCCHHHE | 36.97 | UniProtKB CARBOHYD | |
| 415 | Phosphorylation | HQSVAQNSTQKVLSF HHHHHCCCCCHHHEE | 21.82 | 24043423 | |
| 416 | Phosphorylation | QSVAQNSTQKVLSFT HHHHCCCCCHHHEEE | 39.70 | 24043423 | |
| 435 | Phosphorylation | DDILKSFSDVSVIRV HHHHHHCCCCHHHHH | 44.16 | - | |
| 463 | Phosphorylation | TMLRWDCSKSQGAVG HHHHHHCCCCCCCHH | 32.63 | - | |
| 675 | Phosphorylation | YDPHTHVYYTTAEPR CCCCCEEEEEECCCC | 6.36 | 27642862 | |
| 676 | Phosphorylation | DPHTHVYYTTAEPRS CCCCEEEEEECCCCC | 9.13 | 27642862 | |
| 677 | Phosphorylation | PHTHVYYTTAEPRSE CCCEEEEEECCCCCC | 11.22 | 27642862 | |
| 683 | Phosphorylation | YTTAEPRSEISVQPV EEECCCCCCCEEECE | 50.42 | 28787133 | |
| 686 | Phosphorylation | AEPRSEISVQPVTVT CCCCCCCEEECEEEE | 15.62 | 28787133 | |
| 691 | Phosphorylation | EISVQPVTVTQDTLS CCEEECEEEEECCCC | 25.23 | 28787133 | |
| 693 | Phosphorylation | SVQPVTVTQDTLSCQ EEECEEEEECCCCCC | 16.03 | 28787133 | |
| 696 | Phosphorylation | PVTVTQDTLSCQSPE CEEEEECCCCCCCCC | 15.68 | 28787133 | |
| 698 | Phosphorylation | TVTQDTLSCQSPEST EEEECCCCCCCCCCC | 16.53 | 28787133 | |
| 701 | Phosphorylation | QDTLSCQSPESTSST ECCCCCCCCCCCCCH | 34.66 | 28787133 | |
| 704 | Phosphorylation | LSCQSPESTSSTRDL CCCCCCCCCCCHHHH | 36.65 | 28787133 | |
| 705 | Phosphorylation | SCQSPESTSSTRDLL CCCCCCCCCCHHHHH | 25.65 | 28787133 | |
| 706 | Phosphorylation | CQSPESTSSTRDLLS CCCCCCCCCHHHHHH | 38.70 | 28787133 | |
| 707 | Phosphorylation | QSPESTSSTRDLLSQ CCCCCCCCHHHHHHH | 27.79 | 28787133 | |
| 713 | Phosphorylation | SSTRDLLSQFSDSSL CCHHHHHHHCCCCCC | 36.15 | 27732954 | |
| 716 | Phosphorylation | RDLLSQFSDSSLHCL HHHHHHCCCCCCCCC | 29.01 | 27732954 | |
| 718 | Phosphorylation | LLSQFSDSSLHCLEP HHHHCCCCCCCCCCC | 33.33 | 27732954 | |
| 719 | Phosphorylation | LSQFSDSSLHCLEPP HHHCCCCCCCCCCCC | 27.42 | 27732954 | |
| 728 | Phosphorylation | HCLEPPCTKWTLSSF CCCCCCCCCCCHHHH | 35.08 | 27732954 | |
| 734 | Phosphorylation | CTKWTLSSFAEKHYA CCCCCHHHHHHHHCH | 31.43 | 24719451 | |
| 797 | Phosphorylation | FIAAQFKYFSFYNMY CHHEECCEEEEEEEE | 13.02 | 24043423 | |
| 799 | Phosphorylation | AAQFKYFSFYNMYIV HEECCEEEEEEEEEE | 24.59 | 24043423 | |
| 801 | Phosphorylation | QFKYFSFYNMYIVTQ ECCEEEEEEEEEEEE | 9.60 | 24043423 | |
| 804 | Phosphorylation | YFSFYNMYIVTQKAD EEEEEEEEEEEECCC | 6.65 | 24043423 | |
| 807 | Phosphorylation | FYNMYIVTQKADYPN EEEEEEEEECCCCCC | 18.13 | 24043423 | |
| 873 | Phosphorylation | GKIMPNNYKNGSDDG CCCCCCCCCCCCCCC | 16.69 | 22817900 | |
| 875 | N-linked_Glycosylation | IMPNNYKNGSDDGVL CCCCCCCCCCCCCCH | 44.86 | UniProtKB CARBOHYD | |
| 884 | Phosphorylation | SDDGVLAYKLLVQTG CCCCCHHHHHHHHCC | 9.67 | 22817900 | |
| 892 | Phosphorylation | KLLVQTGSRDKPIDI HHHHHCCCCCCCCCH | 40.47 | 22985185 | |
| 900 | Phosphorylation | RDKPIDISQLTKQRL CCCCCCHHHHHHHCC | 18.52 | 28258704 | |
| 903 | Phosphorylation | PIDISQLTKQRLVDA CCCHHHHHHHCCCCC | 19.93 | 28258704 | |
| 904 | Ubiquitination | IDISQLTKQRLVDAD CCHHHHHHHCCCCCC | 41.85 | - | |
| 955 | Phosphorylation | WVHDKADYMPETRLR CCCCCCCCCCCCCCC | 21.30 | 28509920 | |
| 993 | Ubiquitination | DFVEAIEKVRTICSN HHHHHHHHHHHHHHC | 30.79 | - | |
| 1000 | N-linked_Glycosylation | KVRTICSNYTSLGLS HHHHHHHCCCCCCCC | 39.42 | UniProtKB CARBOHYD | |
| 1195 | Phosphorylation | NGLNRLPTPSPEPPP CCCCCCCCCCCCCCC | 40.78 | 30266825 | |
| 1197 | Phosphorylation | LNRLPTPSPEPPPSV CCCCCCCCCCCCCCE | 44.36 | 30266825 | |
| 1203 | Phosphorylation | PSPEPPPSVVRFAMP CCCCCCCCEEEEECC | 38.73 | 30266825 | |
| 1331 | Phosphorylation | EISTEGHSGPSNRAR EECCCCCCCCCCCCC | 64.35 | - | |
| 1394 | Methylation | PGPGRNPRGGLCPGY CCCCCCCCCCCCCCC | 56.19 | 115489553 | |
| 1424 | Phosphorylation | HVRCERRDSKVEVIE EEEECCCCCCEEEEE | 60.06 | 24719451 | |
| 1425 | Phosphorylation | VRCERRDSKVEVIEL EEECCCCCCEEEEEE | 36.47 | 24719451 |
| Modified Location | Modified Residue | Modification | Function | Reference |
|---|---|---|---|---|
| 1426 | K | ubiquitylation |
| - |
* Distance = the distance between SAP position and PTM sites.
| Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
|---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of PTC1_HUMAN !! | ||||||
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| H00039 | Basal cell carcinoma | |||||
| H00267 | Holoprosencephaly (HPE) | |||||
| H00895 | Basal cell nevus syndrome; Nevoid basal cell carcinoma syndrome; Gorlin syndrome | |||||
| OMIM Disease | ||||||
| 109400 | Basal cell nevus syndrome (BCNS) | |||||
| 605462 | Basal cell carcinoma (BCC) | |||||
| 610828 | Holoprosencephaly 7 (HPE7) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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