PTCH1
entrez
5727
canonical
uniprot
Q13635
canonical
ensembl
ENSG00000185920
resolver
ensp
ENSP00000332353
resolver
ensp
ENSP00000389744
resolver
ensp
ENSP00000414823
resolver
ensp
ENSP00000449745
resolver
ensp
ENSP00000510238
resolver
ensp
ENSP00000518556
resolver
enst
ENST00000468211
resolver
genesymbol
PTCH1
resolver
genesymbol_syn
PTCH
resolver
hgnc
HGNC:9585
resolver
uniprot
A0A0C4DGJ5
resolver
uniprot
A0A1W5YLI7
resolver
uniprot
A3KBI9
resolver
uniprot
E9PEJ8
resolver
uniprot
Q13463
resolver
uniprot
Q5R1U7
resolver
uniprot
Q5R1U9
resolver
uniprot
Q5R1V0
resolver
uniprot
Q5VZC0
resolver
uniprot
Q5VZC2
resolver
uniprot
Q86XG7
resolver
uniprot_entry
A0A0C4DGJ5_HUMAN
resolver
uniprot_entry
A0A1W5YLI7_HUMAN
resolver
uniprot_entry
PTC1_HUMAN
resolver
uniprot_sec
A3KBI9
resolver
uniprot_sec
E9PEJ8
resolver
uniprot_sec
Q13463
resolver
uniprot_sec
Q5R1U7
resolver
uniprot_sec
Q5R1U9
resolver
uniprot_sec
Q5R1V0
resolver
uniprot_sec
Q5VZC0
resolver
uniprot_sec
Q5VZC2
resolver
uniprot_sec
Q86XG7
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by monoclonal antibodies 4G8, 4H2, and 6H3. {ECO:0000269|PubMed:40128518}.
uniprot
proteins
amino_acid_sequence
MASAGNAAEPQDRGGGGSGCIGAPGRPAGGGRRRRTGGLRRAAAPDRDYLHRPSYCDAAFALEQISKGKATGRKAPLWLRAKFQRLLFKLGCYIQKNCGKFLVVGLLIFGAFAVGLKAANLETNVEELWVEVGGRVSRELNYTRQKIGEEAMFNPQLMIQTPKEEGANVLTTEALLQHLDSALQASRVHVYMYNRQWKLEHLCYKSGELITETGYMDQIIEYLYPCLIITPLDCFWEGAKLQSGTAYLLGKPPLRWTNFDPLEFLEELKKINYQVDSWEEMLNKAEVGHGYMDRPCLNPADPDCPATAPNKNSTKPLDMALVLNGGCHGLSRKYMHWQEELIVGGTVKNSTGKLVSAHALQTMFQLMTPKQMYEHFKGYEYVSHINWNEDKAAAILEAWQRTYVEVVHQSVAQNSTQKVLSFTTTTLDDILKSFSDVSVIRVASGYLLMLAYACLTMLRWDCSKSQGAVGLAGVLLVALSVAAGLGLCSLIGISFNAATTQVLPFLALGVGVDDVFLLAHAFSETGQNKRIPFEDRTGECLKRTGASVALTSISNVTAFFMAALIPIPALRAFSLQAAVVVVFNFAMVLLIFPAILSMDLYRREDRRLDIFCCFTSPCVSRVIQVEPQAYTDTHDNTRYSPPPPYSSHSFAHETQITMQSTVQLRTEYDPHTHVYYTTAEPRSEISVQPVTVTQDTLSCQSPESTSSTRDLLSQFSDSSLHCLEPPCTKWTLSSFAEKHYAPFLLKPKAKVVVIFLFLGLLGVSLYGTTRVRDGLDLTDIVPRETREYDFIAAQFKYFSFYNMYIVTQKADYPNIQHLLYDLHRSFSNVKYVMLEENKQLPKMWLHYFRDWLQGLQDAFDSDWETGKIMPNNYKNGSDDGVLAYKLLVQTGSRDKPIDISQLTKQRLVDADGIINPSAFYIYLTAWVSNDPVAYAASQANIRPHRPEWVHDKADYMPETRLRIPAAEPIEYAQFPFYLNGLRDTSDFVEAIEKVRTICSNYTSLGLSSYPNGYPFLFWEQYIGLRHWLLLFISVVLACTFLVCAVFLLNPWTAGIIVMVLALMTVELFGMMGLIGIKLSAVPVVILIASVGIGVEFTVHVALAFLTAIGDKNRRAVLALEHMFAPVLDGAVSTLLGVLMLAGSEFDFIVRYFFAVLAILTILGVLNGLVLLPVLLSFFGPYPEVSPANGLNRLPTPSPEPPPSVVRFAMPPGHTHSGSDSSDSEYSSQTTVSGLSEELRHYEAQQGAGGPAHQVIVEATENPVFAHSTVVHPESRHHPPSNPRQQPHLDSGSLPPGRQGQQPRRDPPREGLWPPPYRPRRDAFEISTEGHSGPSNRARWGPRGARSHNPRNPASTAMGSSVPGYCQPITTVTASASVTVAVHPPPVPGPGRNPRGGLCPGYPETDHGLFEDPHVPFHVRCERRDSKVEVIELQDVECEERPRGSSSN
uniprot
proteins
disease_involvement
DISEASE: Basal cell nevus syndrome 1 (BCNS1) [MIM:109400]: A form of basal cell nevus syndrome, a disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. BCNS1 inheritance is autosomal dominant. {ECO:0000269|PubMed:11231326, ECO:0000269|PubMed:15459969, ECO:0000269|PubMed:29954986, ECO:0000269|PubMed:37611095, ECO:0000269|PubMed:8658145, ECO:0000269|PubMed:8840969, ECO:0000269|PubMed:8981943, ECO:0000269|PubMed:9341860, ECO:0000269|PubMed:9620294}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Basal cell carcinoma (BCC) [MIM:605462]: A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. {ECO:0000269|PubMed:8658145, ECO:0000269|PubMed:9620294}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Holoprosencephaly 7 (HPE7) [MIM:610828]: A form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. HPE7 inheritance is autosomal dominant. {ECO:0000269|PubMed:11941477, ECO:0000269|PubMed:17001668, ECO:0000269|PubMed:17096318}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Negative regulator of the smoothened signaling pathway, which acts as a receptor for hedgehog (SHH, IHH and DHH) morphogens (PubMed:21537345, PubMed:29954986, PubMed:29995851, PubMed:30139912, PubMed:31127104, PubMed:31555730, PubMed:37611095, PubMed:40128518, PubMed:9811851). In absence of hedgehog, acts as an inhibitor of smoothened protein (SMO) by preventing SMO access to cholesterol: mechanistically, acts as a cholesterol transporter, which depeletes cholesterol from the outer leaflet of plasma membrane, thereby preventing cholesterol-binding to the extracellular CRD region of SMO (PubMed:31555730, PubMed:37611095). Hedgehog-binding inhibits PTCH1 cholesterol transporter activity, promoting SMO activation by cholesterol and transduction of the smoothened signaling pathway (PubMed:31548691). Molecular mechanism governing cholesterol transport are still unclear: may move cholesterol from the outer to the inner leaflet of the membrane in exchange for potassium or sodium ion export in the opposite direction (PubMed:37611095). Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis (PubMed:8658145). {ECO:0000269|PubMed:21537345, ECO:0000269|PubMed:29954986, ECO:0000269|PubMed:29995851, ECO:0000269|PubMed:30139912, ECO:0000269|PubMed:31127104, ECO:0000269|PubMed:31548691, ECO:0000269|PubMed:31555730, ECO:0000269|PubMed:37611095, ECO:0000269|PubMed:40128518, ECO:0000269|PubMed:8658145, ECO:0000269|PubMed:9811851}.
uniprot
proteins
mass_dalton
160545
uniprot
proteins
mutagenesis
MUTAGEN 208; /note="E->R: Impaired binding to SHH."; /evidence="ECO:0000269|PubMed:29954986"; MUTAGEN 212; /note="E->R: Impaired binding to SHH."; /evidence="ECO:0000269|PubMed:29954986"; MUTAGEN 217..221; /note="DQIIE->AQIIA: Impaired binding to SHH."; /evidence="ECO:0000269|PubMed:29954986"; MUTAGEN 221..224; /note="EYLY->AAAA: In AAAA mutant; decreased binding to SSH."; /evidence="ECO:0000269|PubMed:29995851"; MUTAGEN 282; /note="L->Q: Impaired binding to SHH."; /evidence="ECO:0000269|PubMed:29954986"; MUTAGEN 427; /note="L->R: Abolished abilityto inhibit the smoothened signaling pathway."; /evidence="ECO:0000269|PubMed:30139912"; MUTAGEN 500; /note="T->F: Impaired binding to SHH."; /evidence="ECO:0000269|PubMed:29954986"; MUTAGEN 504; /note="P->L: Impaired binding to SHH."; /evidence="ECO:0000269|PubMed:29954986"; MUTAGEN 510; /note="V->F: Impaired ability to inhibit smoothened signaling pathway."; /evidence="ECO:0000269|PubMed:37611095"; MUTAGEN 940; /note="N->R: Impaired binding to SHH."; /evidence="ECO:0000269|PubMed:30139912"; MUTAGEN 947..951; /note="EWVHD->RWVHR: Impaired binding to SHH."; /evidence="ECO:0000269|PubMed:30139912"; MUTAGEN 947; /note="E->R: Impaired binding to SHH."; /evidence="ECO:0000269|PubMed:29954986"; MUTAGEN 954; /note="D->R: Impaired binding to SHH."; /evidence="ECO:0000269|PubMed:29954986"; MUTAGEN 1017; /note="F->E: Abolished abilityto inhibit the smoothened signaling pathway."; /evidence="ECO:0000269|PubMed:30139912
uniprot
proteins
post_translational_modification
PTM: In the absence of hedgehog (SHH, IHH and DHH) ligands, ubiquitination by ITCH at Lys-1426 promotes endocytosis and both proteasomal and lysosomal degradation (By similarity). Ubiquitinated by SMURF1 and/or SMURF2 in response to SHH, promoting endocytosis and lysosomal degradation; degradation is essential for PTCH1 clearance from the primary cilium and smoothened pathway activation (By similarity). {ECO:0000250|UniProtKB:Q61115}.
uniprot
proteins
protein_family
Patched family
uniprot
proteins
pubmed
10200051
uniprot
proteins
pubmed
10874314
uniprot
proteins
pubmed
11231326
uniprot
proteins
pubmed
11278759
uniprot
proteins
pubmed
11286632
uniprot
proteins
pubmed
11941477
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15459969
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15769472
uniprot
proteins
pubmed
15780749
uniprot
proteins
pubmed
17001668
uniprot
proteins
pubmed
17096318
uniprot
proteins
pubmed
17310997
uniprot
proteins
pubmed
21537345
uniprot
proteins
pubmed
29954986
uniprot
proteins
pubmed
29995851
uniprot
proteins
pubmed
30139912
uniprot
proteins
pubmed
31127104
uniprot
proteins
pubmed
31548691
uniprot
proteins
pubmed
31555730
uniprot
proteins
pubmed
37611095
uniprot
proteins
pubmed
38529886
uniprot
proteins
pubmed
40128518
uniprot
proteins
pubmed
8647801
uniprot
proteins
pubmed
8658145
uniprot
proteins
pubmed
8840969
uniprot
proteins
pubmed
8981943
uniprot
proteins
pubmed
9341860
uniprot
proteins
pubmed
9620294
uniprot
proteins
pubmed
9811851
uniprot
proteins
sequence_length
1447
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11278759}; Multi-pass membrane protein {ECO:0000269|PubMed:29954986, ECO:0000269|PubMed:29995851, ECO:0000269|PubMed:30139912, ECO:0000269|PubMed:31127104, ECO:0000269|PubMed:31555730}. Cell projection, cilium membrane {ECO:0000250|UniProtKB:Q61115}; Multi-pass membrane protein {ECO:0000269|PubMed:29954986, ECO:0000269|PubMed:29995851, ECO:0000269|PubMed:30139912, ECO:0000269|PubMed:31127104, ECO:0000269|PubMed:31555730}. Note=Localizes to primary cilium and prevents cilium localization of SMO (PubMed:29954986, PubMed:29995851, PubMed:30139912, PubMed:31127104, PubMed:31555730). Delocalizes from primary cilium following hedgehog-binding (By similarity). {ECO:0000250|UniProtKB:Q61115, ECO:0000269|PubMed:29954986, ECO:0000269|PubMed:29995851, ECO:0000269|PubMed:30139912, ECO:0000269|PubMed:31127104, ECO:0000269|PubMed:31555730}.
uniprot
proteins
transmembrane_region
TRANSMEM 100..117; /note="Helical; Name=TM1"; /evidence="ECO:0000269|PubMed:29954986, ECO:0000269|PubMed:29995851, ECO:0000269|PubMed:30139912, ECO:0000269|PubMed:31127104, ECO:0000269|PubMed:31555730, ECO:0007744|PDB:6DMB, ECO:0007744|PDB:6DMO, ECO:0007744|PDB:6DMY, ECO:0007744|PDB:6E1H, ECO:0007744|PDB:6N7G, ECO:0007744|PDB:6N7H, ECO:0007744|PDB:6N7K, ECO:0007744|PDB:6OEU, ECO:0007744|PDB:6OEV, ECO:0007744|PDB:6RMG"; TRANSMEM 438..457; /note="Helical; Name=TM2"; /evidence="ECO:0000269|PubMed:29954986, ECO:0000269|PubMed:29995851, ECO:0000269|PubMed:30139912, ECO:0000269|PubMed:31127104, ECO:0000269|PubMed:31555730, ECO:0007744|PDB:6DMB, ECO:0007744|PDB:6DMO, ECO:0007744|PDB:6DMY, ECO:0007744|PDB:6E1H, ECO:0007744|PDB:6N7G, ECO:0007744|PDB:6N7H, ECO:0007744|PDB:6N7K, ECO:0007744|PDB:6OEU, ECO:0007744|PDB:6OEV, ECO:0007744|PDB:6RMG"; TRANSMEM 469..491; /note="Helical; Name=TM3"; /evidence="ECO:0000269|PubMed:29954986, ECO:0000269|PubMed:29995851, ECO:0000269|PubMed:30139912, ECO:0000269|PubMed:31127104, ECO:0000269|PubMed:31555730, ECO:0007744|PDB:6DMB, ECO:0007744|PDB:6DMO, ECO:0007744|PDB:6DMY, ECO:0007744|PDB:6E1H, ECO:0007744|PDB:6N7G, ECO:0007744|PDB:6N7H, ECO:0007744|PDB:6N7K, ECO:0007744|PDB:6OEU, ECO:0007744|PDB:6OEV, ECO:0007744|PDB:6RMG"; TRANSMEM 501..519; /note="Helical; Name=TM4"; /evidence="ECO:0000269|PubMed:29954986, ECO:0000269|PubMed:29995851, ECO:0000269|PubMed:30139912, ECO:0000269|PubMed:31127104, ECO:0000269|PubMed:31555730, ECO:0007744|PDB:6DMB, ECO:0007744|PDB:6DMO, ECO:0007744|PDB:6DMY, ECO:0007744|PDB:6E1H, ECO:0007744|PDB:6N7G, ECO:0007744|PDB:6N7H, ECO:0007744|PDB:6N7K, ECO:0007744|PDB:6OEU, ECO:0007744|PDB:6OEV, ECO:0007744|PDB:6RMG"; TRANSMEM 544..564; /note="Helical; Name=TM5"; /evidence="ECO:0000269|PubMed:29954986, ECO:0000269|PubMed:29995851, ECO:0000269|PubMed:30139912, ECO:0000269|PubMed:31127104, ECO:0000269|PubMed:31555730, ECO:0007744|PDB:6DMB, ECO:0007744|PDB:6DMO, ECO:0007744|PDB:6DMY, ECO:0007744|PDB:6E1H, ECO:0007744|PDB:6N7G, ECO:0007744|PDB:6N7H, ECO:0007744|PDB:6N7K, ECO:0007744|PDB:6OEU, ECO:0007744|PDB:6OEV, ECO:0007744|PDB:6RMG"; TRANSMEM 573..595; /note="Helical; Name=TM6"; /evidence="ECO:0000269|PubMed:29954986, ECO:0000269|PubMed:29995851, ECO:0000269|PubMed:30139912, ECO:0000269|PubMed:31127104, ECO:0000269|PubMed:31555730, ECO:0007744|PDB:6DMB, ECO:0007744|PDB:6DMO, ECO:0007744|PDB:6DMY, ECO:0007744|PDB:6E1H, ECO:0007744|PDB:6N7G, ECO:0007744|PDB:6N7H, ECO:0007744|PDB:6N7K, ECO:0007744|PDB:6OEU, ECO:0007744|PDB:6OEV, ECO:0007744|PDB:6RMG"; TRANSMEM 748..769; /note="Helical; Name=TM7"; /evidence="ECO:0000269|PubMed:29954986, ECO:0000269|PubMed:29995851, ECO:0000269|PubMed:30139912, ECO:0000269|PubMed:31127104, ECO:0000269|PubMed:31555730, ECO:0007744|PDB:6DMB, ECO:0007744|PDB:6DMO, ECO:0007744|PDB:6DMY, ECO:0007744|PDB:6E1H, ECO:0007744|PDB:6N7G, ECO:0007744|PDB:6N7H, ECO:0007744|PDB:6N7K, ECO:0007744|PDB:6OEU, ECO:0007744|PDB:6OEV, ECO:0007744|PDB:6RMG"; TRANSMEM 1028..1047; /note="Helical; Name=TM8"; /evidence="ECO:0000269|PubMed:29954986, ECO:0000269|PubMed:29995851, ECO:0000269|PubMed:30139912, ECO:0000269|PubMed:31127104, ECO:0000269|PubMed:31555730, ECO:0007744|PDB:6DMB, ECO:0007744|PDB:6DMO, ECO:0007744|PDB:6DMY, ECO:0007744|PDB:6E1H, ECO:0007744|PDB:6N7G, ECO:0007744|PDB:6N7H, ECO:0007744|PDB:6N7K, ECO:0007744|PDB:6OEU, ECO:0007744|PDB:6OEV, ECO:0007744|PDB:6RMG"; TRANSMEM 1050..1074; /note="Helical; Name=TM9"; /evidence="ECO:0000269|PubMed:29954986, ECO:0000269|PubMed:29995851, ECO:0000269|PubMed:30139912, ECO:0000269|PubMed:31127104, ECO:0000269|PubMed:31555730, ECO:0007744|PDB:6DMB, ECO:0007744|PDB:6DMO, ECO:0007744|PDB:6DMY, ECO:0007744|PDB:6E1H, ECO:0007744|PDB:6N7G, ECO:0007744|PDB:6N7H, ECO:0007744|PDB:6N7K, ECO:0007744|PDB:6OEU, ECO:0007744|PDB:6OEV, ECO:0007744|PDB:6RMG"; TRANSMEM 1084..1102; /note="Helical; Name=TM10"; /evidence="ECO:0000269|PubMed:29954986, ECO:0000269|PubMed:29995851, ECO:0000269|PubMed:30139912, ECO:0000269|PubMed:31127104, ECO:0000269|PubMed:31555730, ECO:0007744|PDB:6DMB, ECO:0007744|PDB:6DMO, ECO:0007744|PDB:6DMY, ECO:0007744|PDB:6E1H, ECO:0007744|PDB:6N7G, ECO:0007744|PDB:6N7H, ECO:0007744|PDB:6N7K, ECO:0007744|PDB:6OEU, ECO:0007744|PDB:6OEV, ECO:0007744|PDB:6RMG"; TRANSMEM 1122..1142; /note="Helical; Name=TM11"; /evidence="ECO:0000269|PubMed:29954986, ECO:0000269|PubMed:29995851, ECO:0000269|PubMed:30139912, ECO:0000269|PubMed:31127104, ECO:0000269|PubMed:31555730, ECO:0007744|PDB:6DMB, ECO:0007744|PDB:6DMO, ECO:0007744|PDB:6DMY, ECO:0007744|PDB:6E1H, ECO:0007744|PDB:6N7G, ECO:0007744|PDB:6N7H, ECO:0007744|PDB:6N7K, ECO:0007744|PDB:6OEU, ECO:0007744|PDB:6OEV, ECO:0007744|PDB:6RMG"; TRANSMEM 1152..1174; /note="Helical; Name=TM12"; /evidence="ECO:0000269|PubMed:29954986, ECO:0000269|PubMed:29995851, ECO:0000269|PubMed:30139912, ECO:0000269|PubMed:31127104, ECO:0000269|PubMed:31555730, ECO:0007744|PDB:6DMB, ECO:0007744|PDB:6DMO, ECO:0007744|PDB:6DMY, ECO:0007744|PDB:6E1H, ECO:0007744|PDB:6N7G, ECO:0007744|PDB:6N7H, ECO:0007744|PDB:6N7K, ECO:0007744|PDB:6OEU, ECO:0007744|PDB:6OEV, ECO:0007744|PDB:6RMG
uniprot
proteins