ID PTC1_HUMAN STANDARD; PRT; 1447 AA. AC Q13635; Q13463; DT 30-MAY-2000 (Rel. 39, Created) DT 30-MAY-2000 (Rel. 39, Last sequence update) DT 30-MAY-2000 (Rel. 39, Last annotation update) DE PATCHED PROTEIN HOMOLOG 1 (PTC1) (PTC). GN PTCH. OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP SEQUENCE FROM N.A., AND VARIANTS BCC PRO-175 AND 815-PRO-ASN-ILE INS. RC TISSUE=LUNG; RX MEDLINE=96247324; PubMed=8658145; RA Johnson R.L., Rothman A.L., Xie J., Goodrich L.V., Bare J.W., RA Bonifas J.M., Quinn A.G., Myers R.M., Cox D.R., Epstein E.H. Jr., RA Scott M.P.; RT "Human homolog of patched, a candidate gene for the basal cell nevus RT syndrome."; RL Science 272:1668-1671(1996). RN [2] RP SEQUENCE OF 152-1447 FROM N.A. RC TISSUE=FETAL BRAIN; RX MEDLINE=96218118; PubMed=8647801; RA Hahn H., Christiansen J., Wicking C., Zaphiropolous P.G., RA Chidambaram A., Gerrard B., Vorechovsky I., Bale A.E., Toftgard R., RA Dean M., Wainwright B.; RT "A mammalian patched homolog is expressed in target tissues of sonic RT hedgehog and maps to a region associated with developmental RT abnormalities."; RL J. Biol. Chem. 271:12125-12128(1996). RN [3] RP VARIANTS BCNS SER-376 AND VAL-1083 INS, AND VARIANT BCC TRP-1114. RX MEDLINE=98281604; PubMed=9620294; RA Aszterbaum M., Rothman A., Johnson R.L., Fisher M., Xie J., RA Bonifas J.M., Zhang X., Scott M.P., Epstein E.H. Jr.; RT "Identification of mutations in the human PATCHED gene in sporadic RT basal cell carcinomas and in patients with the basal cell nevus RT syndrome."; RL J. Invest. Dermatol. 110:885-888(1998). CC -!- FUNCTION: ACTS AS A RECEPTOR FOR SONIC HEDGEHOG (SHH), INDIAN CC HEDGEHOG (IHH) AND DESERT HEDGEHOG (DHH). ASSOCIATES WITH THE CC SMOOTHENED PROTEIN (SMO) TO TRANSDUCE THE HEDGEHOG'S PROTEINS CC SIGNAL. SEEMS TO HAVE A TUMOR SUPPRESSOR FUNCTION, AS INACTIVATION CC OF THIS PROTEIN IS PROBABLY A NECESSARY, IF NOT SUFFICIENT STEP CC FOR TUMORIGENESIS. CC -!- SUBCELLULAR LOCATION: INTEGRAL MEMBRANE PROTEIN. CC -!- TISSUE SPECIFICITY: IN THE ADULT, EXPRESSED IN BRAIN, LUNG, LIVER, CC HEART, PLACENTA, SKELETAL MUSCLE, PANCREAS AND KIDNEY. EXPRESSED CC IN TUMOR CELLS BUT NOT IN NORMAL SKIN. CC -!- DEVELOPMENTAL STAGE: IN THE EMBRYO, FOUND IN ALL MAJOR TARGET CC TISSUES OF SONIC HEDGEHOG, SUCH AS THE VENTRAL NEURAL TUBE, CC SOMITES, AND TISSUES SURROUNDING THE ZONE OF POLARIZING ACTIVITY CC OF THE LIMB BUD. CC -!- PTM: GLYCOSYLATION IS NECESSARY FOR SHH BINDING (BY SIMILARITY). CC -!- DISEASE: DEFECTS IN PTCH ARE PROBABLY THE CAUSE OF BASAL CELL CC NEVUS SYNDROME (BCNS), ALSO CALLED GORLIN SYNDROME OR GORLIN-GOLTZ CC SYNDROME; AN AUTOSOMAL DOMINANT DISEASE CHARACTERIZED BY NEVOID CC BASAL CELL CARCINOMAS (NBCCS) AND DEVELOPMENTAL ABNORMALITIES SUCH CC AS RIB AND CRANIOFACIAL ALTERATIONS, POLYDACTYLY, SYNDACTYLY, AND CC SPINA BIFIDA. IN ADDITION, THE PATIENTS SUFFER FROM A MULTITUDE OF CC TUMORS LIKE BASAL CELL CARCINOMAS (BCC), FIBROMAS OF THE OVARIES CC AND HEART, CYSTS OF THE SKIN, JAWS AND MESENTERY, AS WELL AS CC MEDULLOBLASTOMAS AND MENINGIOMAS. COULD ALSO BE ASSOCIATED WITH CC LARGE BODY SIZE OBSERVED IN BCNS PATIENTS. CC -!- SIMILARITY: BELONGS TO THE PATCHED FAMILY. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; U59464; AAC50550.1; -. DR EMBL; U43148; AAC50496.1; -. DR MIM; 601309; -. DR MIM; 109400; -. DR PROSITE; PS50156; SSD; 1. KW Receptor; Transmembrane; Glycoprotein; Disease mutation. FT DOMAIN 1 100 CYTOPLASMIC (POTENTIAL). FT TRANSMEM 101 121 POTENTIAL. FT DOMAIN 122 436 EXTRACELLULAR (POTENTIAL). FT TRANSMEM 437 457 POTENTIAL. FT DOMAIN 458 472 CYTOPLASMIC (POTENTIAL). FT TRANSMEM 473 493 POTENTIAL. FT DOMAIN 494 501 EXTRACELLULAR (POTENTIAL). FT TRANSMEM 502 522 POTENTIAL. FT DOMAIN 523 547 CYTOPLASMIC (POTENTIAL). FT TRANSMEM 548 568 POTENTIAL. FT DOMAIN 569 577 EXTRACELLULAR (POTENTIAL). FT TRANSMEM 578 598 POTENTIAL. FT DOMAIN 599 748 CYTOPLASMIC (POTENTIAL). FT TRANSMEM 749 769 POTENTIAL. FT DOMAIN 770 1027 EXTRACELLULAR (POTENTIAL). FT TRANSMEM 1028 1048 POTENTIAL. FT DOMAIN 1049 1055 CYTOPLASMIC (POTENTIAL). FT TRANSMEM 1056 1076 POTENTIAL. FT DOMAIN 1077 1083 EXTRACELLULAR (POTENTIAL). FT TRANSMEM 1084 1104 POTENTIAL. FT DOMAIN 1105 1121 CYTOPLASMIC (POTENTIAL). FT TRANSMEM 1122 1141 POTENTIAL. FT DOMAIN 1142 1154 EXTRACELLULAR (POTENTIAL). FT TRANSMEM 1155 1175 POTENTIAL. FT DOMAIN 1176 1447 CYTOPLASMIC (POTENTIAL). FT DOMAIN 14 31 GLY-RICH. FT CARBOHYD 141 141 N-LINKED (GLCNAC...) (POTENTIAL). FT CARBOHYD 312 312 N-LINKED (GLCNAC...) (POTENTIAL). FT CARBOHYD 349 349 N-LINKED (GLCNAC...) (POTENTIAL). FT CARBOHYD 414 414 N-LINKED (GLCNAC...) (POTENTIAL). FT CARBOHYD 875 875 N-LINKED (GLCNAC...) (POTENTIAL). FT CARBOHYD 1000 1000 N-LINKED (GLCNAC...) (POTENTIAL). FT VARIANT 175 175 L -> P (IN SPORADIC BCC). FT /FTId=VAR_007843. FT VARIANT 376 376 F -> S (IN BCNS). FT /FTId=VAR_007844. FT VARIANT 815 815 I -> IPNI (IN BCNS). FT /FTId=VAR_007845. FT VARIANT 1083 1083 V -> VV (IN BCNS). FT /FTId=VAR_007846. FT VARIANT 1114 1114 R -> W (IN SPORADIC BCC). FT /FTId=VAR_007847. FT CONFLICT 1109 1109 G -> S (IN REF. 2). FT CONFLICT 1144 1144 E -> D (IN REF. 2). FT CONFLICT 1175 1175 L -> W (IN REF. 2). FT CONFLICT 1283 1283 R -> K (IN REF. 2). FT CONFLICT 1309 1309 E -> K (IN REF. 2). FT CONFLICT 1353 1353 A -> T (IN REF. 2). SQ SEQUENCE 1447 AA; 160560 MW; F293692BB7AD3FC5 CRC64; MASAGNAAEP QDRGGGGSGC IGAPGRPAGG GRRRRTGGLR RAAAPDRDYL HRPSYCDAAF ALEQISKGKA TGRKAPLWLR AKFQRLLFKL GCYIQKNCGK FLVVGLLIFG AFAVGLKAAN LETNVEELWV EVGGRVSREL NYTRQKIGEE AMFNPQLMIQ TPKEEGANVL TTEALLQHLD SALQASRVHV YMYNRQWKLE HLCYKSGELI TETGYMDQII EYLYPCLIIT PLDCFWEGAK LQSGTAYLLG KPPLRWTNFD PLEFLEELKK INYQVDSWEE MLNKAEVGHG YMDRPCLNPA DPDCPATAPN KNSTKPLDMA LVLNGGCHGL SRKYMHWQEE LIVGGTVKNS TGKLVSAHAL QTMFQLMTPK QMYEHFKGYE YVSHINWNED KAAAILEAWQ RTYVEVVHQS VAQNSTQKVL SFTTTTLDDI LKSFSDVSVI RVASGYLLML AYACLTMLRW DCSKSQGAVG LAGVLLVALS VAAGLGLCSL IGISFNAATT QVLPFLALGV GVDDVFLLAH AFSETGQNKR IPFEDRTGEC LKRTGASVAL TSISNVTAFF MAALIPIPAL RAFSLQAAVV VVFNFAMVLL IFPAILSMDL YRREDRRLDI FCCFTSPCVS RVIQVEPQAY TDTHDNTRYS PPPPYSSHSF AHETQITMQS TVQLRTEYDP HTHVYYTTAE PRSEISVQPV TVTQDTLSCQ SPESTSSTRD LLSQFSDSSL HCLEPPCTKW TLSSFAEKHY APFLLKPKAK VVVIFLFLGL LGVSLYGTTR VRDGLDLTDI VPRETREYDF IAAQFKYFSF YNMYIVTQKA DYPNIQHLLY DLHRSFSNVK YVMLEENKQL PKMWLHYFRD WLQGLQDAFD SDWETGKIMP NNYKNGSDDG VLAYKLLVQT GSRDKPIDIS QLTKQRLVDA DGIINPSAFY IYLTAWVSND PVAYAASQAN IRPHRPEWVH DKADYMPETR LRIPAAEPIE YAQFPFYLNG LRDTSDFVEA IEKVRTICSN YTSLGLSSYP NGYPFLFWEQ YIGLRHWLLL FISVVLACTF LVCAVFLLNP WTAGIIVMVL ALMTVELFGM MGLIGIKLSA VPVVILIASV GIGVEFTVHV ALAFLTAIGD KNRRAVLALE HMFAPVLDGA VSTLLGVLML AGSEFDFIVR YFFAVLAILT ILGVLNGLVL LPVLLSFFGP YPEVSPANGL NRLPTPSPEP PPSVVRFAMP PGHTHSGSDS SDSEYSSQTT VSGLSEELRH YEAQQGAGGP AHQVIVEATE NPVFAHSTVV HPESRHHPPS NPRQQPHLDS GSLPPGRQGQ QPRRDPPREG LWPPLYRPRR DAFEISTEGH SGPSNRARWG PRGARSHNPR NPASTAMGSS VPGYCQPITT VTASASVTVA VHPPPVPGPG RNPRGGLCPG YPETDHGLFE DPHVPFHVRC ERRDSKVEVI ELQDVECEER PRGSSSN //