| Nomenclature | Genomic Location |
| Symbol | Ptch1 | Chromosome | 1 |
| Name | Patched homolog 1 | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | Chr1: 49 Mbp |
| Molecular Function |
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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 proteins' signal. Seems to
have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not
sufficient step for tumorigenesis.
Molecular Function Terms:
binding
protein binding
receptor binding
lipid binding
steroid binding
sterol binding
cholesterol binding
molecular transducer activity
signal transducer activity
receptor activity
transmembrane receptor activity
hedgehog receptor activity
receptor activity
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| Human Disease Association |
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Defects in PTCH1 are probably the cause of basal cell nevus syndrome (BCNS) [MIM:109400]; also
known as Gorlin syndrome or Gorlin-Goltz syndrome. BCNS is an autosomal dominant disease characterized
by nevoid basal cell carcinomas (NBCCS) 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 basal cell carcinomas (BCC), fibromas of the ovaries and heart, cysts of
the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. PTCH1 is also mutated
in squamous cell carcinoma (SCC). Could also be associated with large body size observed in BCNS patients.
Defects in PTCH1 are a cause of sporadic basal cell carcinoma (BCC) [MIM:605462].
Defects in PTCH1 are the cause of holoprosencephaly type 7 (HPE7) [MIM:610828]. Holoprosencephaly
(HPE) [MIM:236100] is the most common structural anomaly of the brain, in which the developing
forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is
genetically heterogeneous and associated with several distinct facies and phenotypic variability.
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1 CAGGTTGTCCATCAAAGTGTTGCACAAAACTCTACTCAGAAGGTGCTTTCCTTTACTACA
61 ACAACTCTAGAGGACATCCTAAAATCATTTTCTGATGTCAGCGTTATCAGGGTCGCCAGT
121 GGCTATCTTCTCATGCTTGCTTATGCCTGTTTAACCATGCTGCGATGGGACTGTGCTAAG
181 TCTCAGGGTGCCGTGGGTCTGGCCGGAGTCTTGTTGGTTGCACTGTCAGTAGCTGCAGGA
241 TTGGGGCTGTGCTCATTGATTGGGATTTCCTTTAATGCTGCAACAACTCAGGTTTTACCC
301 TTTCTTGCTCTAGGAGTTGGTGTGGATGATGTCTTTCTTTTGGCACATGCCTTTAGTGAA
361 ACTGGTCAAAACAAGAGAATTCCATTTGAGGATAGAACAGGGGAATGTTTGAAACGCACT
421 GGGGCAAGCGTGGCTCTTACATCCATCAGTAATGTCACCGCATTCTTCATGGCTGCCTTG
481 ATTCCTATTCCTGCTCTGCGGGCATTTTCCCTCCAAGCTGCTGTAGTTGTGGTTTTCAAC
541 TTTGCCATGGTTCTATTAATTTTTCCTGCTATTTTGAGCATGGATTTGTATCGCCGTGAA
601 GACCGAAGATTGGATATATTCTGCTGTTTTACAAGCCCTTGTGTCAGCAGAGTAATTCAG
661 ATTGAACCGCAAGCCTATGCAGAAGCTGGTGACAACACACGCTACAGCCCTCCACCTCCG
721 TACAGCAGCCACAGTTTTGCACATGAAACCCAAATCACAATGCAGTCCACAGTCCAGTTG
781 CGCACTGAATATGACCCTCACACCCAGGTGTATTATACCACAGCGGAACCTCGTTCAGAA
841 ATATCGGTGCAACCCGTCACAGTGACCCAAGATAACCTCAGCTGCCAAAGCCCAGAAAGC
901 ACAAGTTCAACTCGGGATCTCCTTTCACAGTTCTCAGAATCTACACTACATTGCCTTGAG
961 CCACCTTGTACTAAATGGACACTCTCCTCCTTTGCTGAAAAACAGTATGCGCCATTCTTG
1021 TTGAAGCCAAAAGCAAAGATCGTGGTCATTTTTCTTTTTCTTGCCTTACTTGGCCTCAGC
1081 CTATATGGAACCACCCGTGTAAGAGATGGACTGGATCTTACAGACATTGTGCCACGGGAA
1141 ACACGGGAATACGATTTCATTGCAGCCCAATTCAAGTATTTCTCATTCTACCACATGTAC
1201 ATCGTGACACAAAAAGCAGATTATCCCAACATCCAGCACTTGCTTTATGAACTTCACAAA
1261 AGTTTCAGCAGTGTTACATACGTTTTGTTGGAAGACAACAAGCAGCTTCCAAAAATGTGG
1321 TTGCACTACTTTAGAGACTGGCTGCAAGGACTTCAGGAGGCTTTTGACAATGACTGGAAA
1381 TCTGGGAAGATAACACTCAGCAGTTACAAAAATGGATCTGAAGATGCTGTTCTGGCTTAT
1441 AAACTCCTGGTTCAAACAATGTCAGGCATCCGAGAGAAACCCATTAATATTAGCCAGCTG
1501 GCTAAGCAGCGCCTGGTGGATGCAAATGGAATCATTAACCCAAAGGCTTTCTACATCTAC
1561 CTGACTGCCTGGGTTAGCAACGATCCCGTGGCTTACGCTGCCTCTCAAGCCAACATCCGT
1621 CCCCACCGTCCAGAGTGGGTCCATGACAAAGCCGACTATATGCCAGTAACCAGGCAAATC
1681 ATGTTAATCCCAGAGGCAGAGCCTATTGAATATGCTCAGTTTCCTTTCTACCTCAACGGA
1741 CTGCGTGATACTTCTGACTTTGTGGAAGCTATTGAGAAAGTGAGAGCAATATGCAACAAC
1801 TACACCAGCCTTGGAGTTCCCAGTTACCCAAATGGATATCCATTCCTCTTTTGGGAACAA
1861 TACATTGGCCTTCGTCATTGGCTTCTCTTATCCATTAGCGTGGTCCTGGCCTGCACGTTT
1921 CTGGTGTGTGCCCTCTTCCTTCTGAACCCCTGGACAGCTGGGATCATTGTTGTGGTGCTG
1981 GCTCTGATGACAGTGGAACTGTTTGGCATGATGGGTCTTATTGGAATAAAGCTGAGTGCT
2041 GTGCCTGTTGTCATCTTGATTGCTTCTGTTGGAATTGGAGTGGAGTTTACTGTTCATATT
2101 GCCTTGGCATTTCTGACTGCAATGGGAGACAAGAATCACAGGGCTGTCCTTGCTTTAGAG
2161 CACATGTTTGCACCTGTGTTGGATGGAGCTGTGTCTACACTGCTTGGTGTCTTAATGCTT
2221 GCAGGATCTGAGTTTGACTTTATTGTCAGATATTTCTTTGCTGTTTTGGCCATTTTAACC
2281 ATCTTGGGTGCTTTGAACGGACTGGTGCTACTTCCCATTCTACTTTCCCTGTTTGGACCA
2341 TATCCTGAGGTTTCTCCAGTCAATGGAAGGAGTACATTGCCAACTCCTACTTTTGAGCCA
2401 CCTCCAAGCACTGTGAGGTTTGCCATACCACCAACTCATATGCAAAATGGGTCAGATTCA
2461 TCTGATTCTGAGTACAGTTCTCAGACCACAGTATCAGGAATCAGCGAAGAGCTTCATCAG
2521 TATGAGGCCACGCAAAGAACGGGTGCTCCAGTCCGTCAAGTAATTGTTGAAGCAACTGAA
2581 AATCCAGTATTTGCCAGATCTTCAGTGATCCAGCCAGAGAAGCGGTATCATCAGACAAAT
2641 CCAGGATTGCAGATCAGCCAAGAGCCTGGATCACAACAAACGTGGCATCAAAACAAGAAA
2701 CCCAAAAGAGAACCAAGGGAAGGACTCCGGCCGCCCCCTTATCGGCCACGCAGGGATGCC
2761 TTTGAAGCTTCTACTGAAGGGCGTTCCTGCCCTAGTAATAGGGACTGCTGTGGCCAGAGG
2821 ACTCGTTCGCAGAATATCAGGAACCCAGCCTTTACTGCCGCTGGGGCTACAGTGCCACCA
2881 TGTTGCCAGCCTATCACTACTGTGACTGCCTCGGCTTCAGTTACTGTGGCTGTACATCCT
2941 GCTGCGCACAGCCACAGTACGCGTGGAGGAGGTTTTCCATCCTATGAGGGATACCATGAA
3001 ACCGATCACGGACAGTTTGAGGACCCTCATGTGCCTTTTAATGTCCGGTGTGAGAGGAGG
3061 AACTCTAAAGTAGAAGTAATAGAACTGCAAGATGTTGAATGTGAAGAAAGGACTCGTGGC
3121 AACAATGCAGATTAA
| Predicted Protein Product |
QVVHQSVAQNSTQKVLSFTTTTLEDILKSFSDVSVIRVASGYLLMLAYACLTMLRWDCAK
SQGAVGLAGVLLVALSVAAGLGLCSLIGISFNAATTQVLPFLALGVGVDDVFLLAHAFSE
TGQNKRIPFEDRTGECLKRTGASVALTSISNVTAFFMAALIPIPALRAFSLQAAVVVVFN
FAMVLLIFPAILSMDLYRREDRRLDIFCCFTSPCVSRVIQIEPQAYAEAGDNTRYSPPPP
YSSHSFAHETQITMQSTVQLRTEYDPHTQVYYTTAEPRSEISVQPVTVTQDNLSCQSPES
TSSTRDLLSQFSESTLHCLEPPCTKWTLSSFAEKQYAPFLLKPKAKIVVIFLFLALLGLS
LYGTTRVRDGLDLTDIVPRETREYDFIAAQFKYFSFYHMYIVTQKADYPNIQHLLYELHK
SFSSVTYVLLEDNKQLPKMWLHYFRDWLQGLQEAFDNDWKSGKITLSSYKNGSEDAVLAY
KLLVQTMSGIREKPINISQLAKQRLVDANGIINPKAFYIYLTAWVSNDPVAYAASQANIR
PHRPEWVHDKADYMPVTRQIMLIPEAEPIEYAQFPFYLNGLRDTSDFVEAIEKVRAICNN
YTSLGVPSYPNGYPFLFWEQYIGLRHWLLLSISVVLACTFLVCALFLLNPWTAGIIVVVL
ALMTVELFGMMGLIGIKLSAVPVVILIASVGIGVEFTVHIALAFLTAMGDKNHRAVLALE
HMFAPVLDGAVSTLLGVLMLAGSEFDFIVRYFFAVLAILTILGALNGLVLLPILLSLFGP
YPEVSPVNGRSTLPTPTFEPPPSTVRFAIPPTHMQNGSDSSDSEYSSQTTVSGISEELHQ
YEATQRTGAPVRQVIVEATENPVFARSSVIQPEKRYHQTNPGLQISQEPGSQQTWHQNKK
PKREPREGLRPPPYRPRRDAFEASTEGRSCPSNRDCCGQRTRSQNIRNPAFTAAGATVPP
CCQPITTVTASASVTVAVHPAAHSHSTRGGGFPSYEGYHETDHGQFEDPHVPFNVRCERR
NSKVEVIELQDVECEERTRGNNAD
| Protein Alignment to Mouse |
sp|Q61115|PTC1_MOUSE Protein patched homolog 1 OS=Mus musculus GN=Ptch1 PE=2
SV=1
MGI:105373 Ptch1 patched homolog 1 (Chr 13)
Length = 1434
Score = 4174 (1474.4 bits), Expect = 0., P = 0.
Identities = 824/1051 (78%), Positives = 876/1051 (83%)
Query: 1 QVVHQSVAQNSTQKVLSFTTTTLEDILKSFSDVSVIRVASGYLLMLAYACLTMLRWDCAK 60
+VVHQSVA NSTQKVL FTTTTL+DILKSFSDVSVIRVASGYLLMLAYACLTMLRWDC+K
Sbjct: 391 EVVHQSVAPNSTQKVLPFTTTTLDDILKSFSDVSVIRVASGYLLMLAYACLTMLRWDCSK 450
Query: 61 SQXXXXXXXXXXXXXXXXXXXXXCSLIGISFNAATTQVLPFLALGVGVDDVFLLAHAFSE 120
SQ CSLIGISFNAATTQVLPFLALGVGVDDVFLLAHAFSE
Sbjct: 451 SQGAVGLAGVLLVALSVAAGLGLCSLIGISFNAATTQVLPFLALGVGVDDVFLLAHAFSE 510
Query: 121 TGQNKRIPFEDRTGECLKRTGASVALTSISNVTAFFMAALIPIPALRAFSLQXXXXXXXX 180
TGQNKRIPFEDRTGECLKRTGASVALTSISNVTAFFMAALIPIPALRAFSLQ
Sbjct: 511 TGQNKRIPFEDRTGECLKRTGASVALTSISNVTAFFMAALIPIPALRAFSLQAAVVVVFN 570
Query: 181 XXXXLLIFPAILSMDLYRREDRRLDIFCCFTSPCVSRVIQIEPQAYAEAGDNTRXXXXXX 240
LLIFPAILSMDLYRREDRRLDIFCCFTSPCVSRVIQ+EPQAY E NTR
Sbjct: 571 FAMVLLIFPAILSMDLYRREDRRLDIFCCFTSPCVSRVIQVEPQAYTEPHSNTRYSPPPP 630
Query: 241 XXXXXFAHETQITMQSTVQLRTEYDPHTQVYYTTAEPRSEISVQPVTVTQDNLSCQSPES 300
FAHET ITMQSTVQLRTEYDPHT VYYTTAEPRSEISVQPVTVTQDNLSCQSPES
Sbjct: 631 YTSHSFAHETHITMQSTVQLRTEYDPHTHVYYTTAEPRSEISVQPVTVTQDNLSCQSPES 690
Query: 301 TSSTRDLLSQFSESTLHCLEPPCTKWTLSSFAEKQYAPFLLKPKAKIVVIFXXXXXXXXX 360
TSSTRDLLSQFS+S+LHCLEPPCTKWTLSSFAEK YAPFLLKPKAK+VVI
Sbjct: 691 TSSTRDLLSQFSDSSLHCLEPPCTKWTLSSFAEKHYAPFLLKPKAKVVVILLFLGLLGVS 750
Query: 361 XYGTTRVRDGLDLTDIVPRETREYDFIAAQFKYFSFYHMYIVTQKADYPNIQHLLYELHK 420
YGTTRVRDGLDLTDIVPRETREYDFIAAQFKYFSFY+MYIVTQKADYPNIQHLLY+LHK
Sbjct: 751 LYGTTRVRDGLDLTDIVPRETREYDFIAAQFKYFSFYNMYIVTQKADYPNIQHLLYDLHK 810
Query: 421 SFSSVTYVLLEDNKQLPKMWLHYFRDWLQGLQEAFDNDWKSGKITLSSYKNGSEDAVLAY 480
SFS+V YV+LE+NKQLP+MWLHYFRDWLQGLQ+AFD+DW++G+I ++YKNGS+D VLAY
Sbjct: 811 SFSNVKYVMLEENKQLPQMWLHYFRDWLQGLQDAFDSDWETGRIMPNNYKNGSDDGVLAY 870
Query: 481 KLLVQTMSGIREKPINISQLAKQRLVDANGIINPKAFYIYLTAWVSNDPVAYAASQANIR 540
KLLVQT G R+KPI+ISQL KQRLVDA+GIINP AFYIYLTAWVSNDPVAYAASQANIR
Sbjct: 871 KLLVQT--GSRDKPIDISQLTKQRLVDADGIINPSAFYIYLTAWVSNDPVAYAASQANIR 928
Query: 541 PHRPEWVHDKADYMPVTRQIMLIPEAEPIEYAQFPFYLNGLRDTSDFVEAIEKVRAICNN 600
PHRPEWVHDKADYMP TR + IP AEPIEYAQFPFYLNGLRDTSDFVEAIEKVR ICNN
Sbjct: 929 PHRPEWVHDKADYMPETR--LRIPAAEPIEYAQFPFYLNGLRDTSDFVEAIEKVRVICNN 986
Query: 601 YTSLGVPSYPNGYPFLFWEQYIGLRHWLLLSISVVLACTFLVCALFLLNPWTAGIIVVVL 660
YTSLG+ SYPNGYPFLFWEQYI LRHWLLLSISVVLACTFLVCA+FLLNPWTAGIIV+VL
Sbjct: 987 YTSLGLSSYPNGYPFLFWEQYISLRHWLLLSISVVLACTFLVCAVFLLNPWTAGIIVMVL 1046
Query: 661 ALMTVELFGMMGLIGIKLSAVPVVILIASVGIGVEFTVHIALAFLTAMGDKNHRAVLALE 720
ALMTVELFGMMGLIGIKLSAVPVVILIASVGIGVEFTVH+ALAFLTA+GDKNHRA+LALE
Sbjct: 1047 ALMTVELFGMMGLIGIKLSAVPVVILIASVGIGVEFTVHVALAFLTAIGDKNHRAMLALE 1106
Query: 721 HMFAPVLDGAVSTLLGVLMLAGSEFDFIVRYFFAVLAILTILGALNGLVLLPILLSLFGP 780
HMFAPVLDGAVSTLLGVLMLAGSEFDFIVRYFFAVLAILT+LG LNGLVLLP+LLS FGP
Sbjct: 1107 HMFAPVLDGAVSTLLGVLMLAGSEFDFIVRYFFAVLAILTVLGVLNGLVLLPVLLSFFGP 1166
Query: 781 YPEVSPVNGRSTLPTPTFEPPPSTVRFAIPPTHMQNGXXXXXXXXXXQTTVSGISEELHQ 840
PEVSP NG + LPTP+ EPPPS VRFA+PP H NG QTTVSGISEEL Q
Sbjct: 1167 CPEVSPANGLNRLPTPSPEPPPSVVRFAVPPGHTNNGSDSSDSEYSSQTTVSGISEELRQ 1226
Query: 841 YEATQRTGAPVRQVIVEATENPVFARSSVIQPEKRYHQTNPGLQISQEP----GSQQTWH 896
YEA Q G P QVIVEATENPVFARS+V+ P+ R HQ P L Q+P GS
Sbjct: 1227 YEAQQGAGGPAHQVIVEATENPVFARSTVVHPDSR-HQ--PPLTPRQQPHLDSGSLSPGR 1283
Query: 897 QNKKPKREP-REGLRPPPYRPRRDAFEASTEGRSCPSNRDCCGQR-TRSQNIRNPAFTAA 954
Q ++P+R+P REGLRPPPYRPRRDAFE STEG S PSNRD G R RS N RNP TA
Sbjct: 1284 QGQQPRRDPPREGLRPPPYRPRRDAFEISTEGHSGPSNRDRSGPRGARSHNPRNPTSTAM 1343
Query: 955 GATVPPCCQPIXXXXXXXXXXXXXXXXXXXXXX-RGGGFPSYEGYHETDHGQFEDPHVPF 1013
G++VP CQPI RGG P YE Y ETDHG FEDPHVPF
Sbjct: 1344 GSSVPSYCQPITTVTASASVTVAVHPPPGPGRNPRGGPCPGYESYPETDHGVFEDPHVPF 1403
Query: 1014 NVRCERRNSKVEVIELQDVECEERTRGNNAD 1044
+VRCERR+SKVEVIELQDVECEER G++++
Sbjct: 1404 HVRCERRDSKVEVIELQDVECEERPWGSSSN 1434
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