Reviewed, UniProtKB/Swiss-Prot Q13635 (PTC1_HUMAN)

Names and origin

Protein names

Recommended name:
    Protein patched homolog 1
      Short name=PTC1
      Short name=PTC

Gene names

Name:	PTCH1
Synonyms:	PTCH

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1447 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	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.
Subunit structure	Interacts with SNX17. Ref.4
Subcellular location	Membrane; Multi-pass membrane protein.
Tissue specificity	In the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas and kidney. Expressed in tumor cells but not in normal skin.
Developmental stage	In the embryo, found in all major target tissues of sonic hedgehog, such as the ventral neural tube, somites, and tissues surrounding the zone of polarizing activity of the limb bud.
Post-translational modification	Glycosylation is necessary for SHH binding By similarity.
Involvement in disease	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. Ref.5 Ref.6 Ref.9 Ref.11 Ref.15 Defects in PTCH1 are a cause of sporadic basal cell carcinoma (BCC) [MIM:605462]. Ref.9 Ref.1 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. Ref.13 Ref.16 Ref.17
Sequence similarities	Belongs to the patched family. Contains 1 SSD (sterol-sensing) domain.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation Holoprosencephaly Tumor suppressor
Domain	Transmembrane
Molecular function	Receptor
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	embryonic limb morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of multicellular organism growth Inferred from sequence or structural similarity. Source: UniProtKB protein processing Inferred from sequence or structural similarity. Source: UniProtKB regulation of smoothened signaling pathway Inferred from sequence or structural similarity. Source: UniProtKB smoothened signaling pathway Inferred from sequence or structural similarity. Source: UniProtKB
Cellular component	integral to plasma membrane Ref.6 Traceable author statement. Source: ProtInc
Molecular function	hedgehog receptor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1447	1447	Protein patched homolog 1		PRO_0000205964
Regions
	Topological domain	1 – 100	100	Cytoplasmic Potential
	Transmembrane	101 – 121	21	Potential
	Topological domain	122 – 436	315	Extracellular Potential
	Transmembrane	437 – 457	21	Potential
	Topological domain	458 – 472	15	Cytoplasmic Potential
	Transmembrane	473 – 493	21	Potential
	Topological domain	494 – 501	8	Extracellular Potential
	Transmembrane	502 – 522	21	Potential
	Topological domain	523 – 547	25	Cytoplasmic Potential
	Transmembrane	548 – 568	21	Potential
	Topological domain	569 – 577	9	Extracellular Potential
	Transmembrane	578 – 598	21	Potential
	Topological domain	599 – 748	150	Cytoplasmic Potential
	Transmembrane	749 – 769	21	Potential
	Topological domain	770 – 1027	258	Extracellular Potential
	Transmembrane	1028 – 1048	21	Potential
	Topological domain	1049 – 1055	7	Cytoplasmic Potential
	Transmembrane	1056 – 1076	21	Potential
	Topological domain	1077 – 1083	7	Extracellular Potential
	Transmembrane	1084 – 1104	21	Potential
	Topological domain	1105 – 1121	17	Cytoplasmic Potential
	Transmembrane	1122 – 1141	20	Potential
	Topological domain	1142 – 1154	13	Extracellular Potential
	Transmembrane	1155 – 1175	21	Potential
	Topological domain	1176 – 1447	272	Cytoplasmic Potential
	Domain	438 – 598	161	SSD
	Compositional bias	14 – 31	18	Gly-rich
Amino acid modifications
	Glycosylation	141	1	N-linked (GlcNAc...) Potential
	Glycosylation	312	1	N-linked (GlcNAc...) Potential
	Glycosylation	349	1	N-linked (GlcNAc...) Potential
	Glycosylation	414	1	N-linked (GlcNAc...) Potential
	Glycosylation	875	1	N-linked (GlcNAc...) Potential
	Glycosylation	1000	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	175	1	L → P in BCNS; sporadic BCC. Ref.1		VAR_007843
	Natural variant	230	1	T → P in BCNS. Ref.15		VAR_020845
	Natural variant	376	1	F → S in BCNS. Ref.9		VAR_007844
	Natural variant	393	1	A → T in HPE7. Ref.13		VAR_032952
	Natural variant	443	1	A → G in HPE7. Ref.17		VAR_032953
	Natural variant	505 – 506	2	FL → LR in BCNS.		VAR_020846
	Natural variant	509	1	G → R in BCNS; could be a rare polymorphism. Ref.5		VAR_010974
	Natural variant	509	1	G → V in BCNS. Ref.5		VAR_010975
	Natural variant	513	1	D → Y in BCNS. Ref.6		VAR_010976
	Natural variant	728	1	T → M in HPE7. dbSNP rs28936404. Ref.13 Ref.16		VAR_032954
	Natural variant	751	1	V → G in HPE7. Ref.17		VAR_032955
	Natural variant	815	1	I → IPNI in BCNS.		VAR_007845
	Natural variant	816	1	Missing in BCNS.		VAR_010977
	Natural variant	827	1	S → G in HPE7. Ref.13		VAR_032956
	Natural variant	829	1	V → M in squamous cell carcinoma. Ref.12		VAR_010978
	Natural variant	908	1	V → G in HPE7. Ref.17		VAR_032957
	Natural variant	1052	1	T → M in HPE7. dbSNP rs28936405. Ref.13 Ref.17		VAR_032958
	Natural variant	1069	1	G → R in BCNS. Ref.6		VAR_010979
	Natural variant	1083	1	V → VV in BCNS. Ref.9		VAR_007846
	Natural variant	1114	1	R → W in BCNS and BCC. Ref.9		VAR_007847
	Natural variant	1132	1	S → P in BCNS. Ref.11		VAR_010980
	Natural variant	1132	1	S → Y in BCNS. Ref.5		VAR_010981
	Natural variant	1195	1	T → S: dbSNP rs2236405.		VAR_020440
	Natural variant	1242	1	E → K in squamous cell carcinoma. Ref.12		VAR_010982
	Natural variant	1282	1	P → L: dbSNP rs2227968.		VAR_020847
	Natural variant	1315	1	P → L: dbSNP rs357564. Ref.1 Ref.3 Ref.8 Ref.10		VAR_010983
	Natural variant	1438	1	E → D in BCNS; sporadic NBCCS. Ref.7		VAR_010984
Experimental info
	Sequence conflict	1109	1	G → S in AAC50496. Ref.2
	Sequence conflict	1144	1	E → D in AAC50496. Ref.2
	Sequence conflict	1175	1	L → W in AAC50496. Ref.2
	Sequence conflict	1283	1	R → K in AAC50496. Ref.2
	Sequence conflict	1309	1	E → K in AAC50496. Ref.2
	Sequence conflict	1353	1	A → T in AAC50496. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q13635-1 [UniParc]. Last modified October 23, 2007. Version 2. Checksum: F2937247BC812F85	FASTA	1,447	160,545
	10 20 30 40 50 60 MASAGNAAEP QDRGGGGSGC IGAPGRPAGG GRRRRTGGLR RAAAPDRDYL HRPSYCDAAF 70 80 90 100 110 120 ALEQISKGKA TGRKAPLWLR AKFQRLLFKL GCYIQKNCGK FLVVGLLIFG AFAVGLKAAN 130 140 150 160 170 180 LETNVEELWV EVGGRVSREL NYTRQKIGEE AMFNPQLMIQ TPKEEGANVL TTEALLQHLD 190 200 210 220 230 240 SALQASRVHV YMYNRQWKLE HLCYKSGELI TETGYMDQII EYLYPCLIIT PLDCFWEGAK 250 260 270 280 290 300 LQSGTAYLLG KPPLRWTNFD PLEFLEELKK INYQVDSWEE MLNKAEVGHG YMDRPCLNPA 310 320 330 340 350 360 DPDCPATAPN KNSTKPLDMA LVLNGGCHGL SRKYMHWQEE LIVGGTVKNS TGKLVSAHAL 370 380 390 400 410 420 QTMFQLMTPK QMYEHFKGYE YVSHINWNED KAAAILEAWQ RTYVEVVHQS VAQNSTQKVL 430 440 450 460 470 480 SFTTTTLDDI LKSFSDVSVI RVASGYLLML AYACLTMLRW DCSKSQGAVG LAGVLLVALS 490 500 510 520 530 540 VAAGLGLCSL IGISFNAATT QVLPFLALGV GVDDVFLLAH AFSETGQNKR IPFEDRTGEC 550 560 570 580 590 600 LKRTGASVAL TSISNVTAFF MAALIPIPAL RAFSLQAAVV VVFNFAMVLL IFPAILSMDL 610 620 630 640 650 660 YRREDRRLDI FCCFTSPCVS RVIQVEPQAY TDTHDNTRYS PPPPYSSHSF AHETQITMQS 670 680 690 700 710 720 TVQLRTEYDP HTHVYYTTAE PRSEISVQPV TVTQDTLSCQ SPESTSSTRD LLSQFSDSSL 730 740 750 760 770 780 HCLEPPCTKW TLSSFAEKHY APFLLKPKAK VVVIFLFLGL LGVSLYGTTR VRDGLDLTDI 790 800 810 820 830 840 VPRETREYDF IAAQFKYFSF YNMYIVTQKA DYPNIQHLLY DLHRSFSNVK YVMLEENKQL 850 860 870 880 890 900 PKMWLHYFRD WLQGLQDAFD SDWETGKIMP NNYKNGSDDG VLAYKLLVQT GSRDKPIDIS 910 920 930 940 950 960 QLTKQRLVDA DGIINPSAFY IYLTAWVSND PVAYAASQAN IRPHRPEWVH DKADYMPETR 970 980 990 1000 1010 1020 LRIPAAEPIE YAQFPFYLNG LRDTSDFVEA IEKVRTICSN YTSLGLSSYP NGYPFLFWEQ 1030 1040 1050 1060 1070 1080 YIGLRHWLLL FISVVLACTF LVCAVFLLNP WTAGIIVMVL ALMTVELFGM MGLIGIKLSA 1090 1100 1110 1120 1130 1140 VPVVILIASV GIGVEFTVHV ALAFLTAIGD KNRRAVLALE HMFAPVLDGA VSTLLGVLML 1150 1160 1170 1180 1190 1200 AGSEFDFIVR YFFAVLAILT ILGVLNGLVL LPVLLSFFGP YPEVSPANGL NRLPTPSPEP 1210 1220 1230 1240 1250 1260 PPSVVRFAMP PGHTHSGSDS SDSEYSSQTT VSGLSEELRH YEAQQGAGGP AHQVIVEATE 1270 1280 1290 1300 1310 1320 NPVFAHSTVV HPESRHHPPS NPRQQPHLDS GSLPPGRQGQ QPRRDPPREG LWPPPYRPRR 1330 1340 1350 1360 1370 1380 DAFEISTEGH SGPSNRARWG PRGARSHNPR NPASTAMGSS VPGYCQPITT VTASASVTVA 1390 1400 1410 1420 1430 1440 VHPPPVPGPG RNPRGGLCPG YPETDHGLFE DPHVPFHVRC ERRDSKVEVI ELQDVECEER PRGSSSN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human homolog of patched, a candidate gene for the basal cell nevus syndrome." Johnson R.L., Rothman A.L., Xie J., Goodrich L.V., Bare J.W., Bonifas J.M., Quinn A.G., Myers R.M., Cox D.R., Epstein E.H. Jr., Scott M.P. Science 272:1668-1671(1996) [PubMed: 8658145] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS BCC PRO-175; PRO-ASN-ILE-815 INS AND LEU-1315. Tissue: Lung.
[2]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities." Hahn H., Christiansen J., Wicking C., Zaphiropolous P.G., Chidambaram A., Gerrard B., Vorechovsky I., Bale A.E., Toftgard R., Dean M., Wainwright B.J. J. Biol. Chem. 271:12125-12128(1996) [PubMed: 8647801] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 152-1447, VARIANT LEU-1315. Tissue: Fetal brain.
[4]	"Functions of sorting nexin 17 domains and recognition motif for P-selectin trafficking." Knauth P., Schlueter T., Czubayko M., Kirsch C., Florian V., Schreckenberger S., Hahn H., Bohnensack R. J. Mol. Biol. 347:813-825(2005) [PubMed: 15769472] [Abstract] Cited for: INTERACTION WITH SNX17.
[5]	"Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients." Chidambaram A., Goldstein A.M., Gailani M.R., Gerrard B., Bale S.J., DiGiovanna J.J., Bale A.E., Dean M. Cancer Res. 56:4599-4601(1996) [PubMed: 8840969] [Abstract] Cited for: VARIANTS BCNS ARG-509; VAL-509; GLN-816 DEL AND TYR-1132.
[6]	"Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident." Wicking C., Shanley S., Smyth I., Gillies S., Negus K., Graham S., Suthers G., Haites N., Edwards M., Wainwright B.J., Chenevix-Trench G. Am. J. Hum. Genet. 60:21-26(1997) [PubMed: 8981943] [Abstract] Cited for: VARIANTS BCNS TYR-513 AND ARG-1069.
[7]	"Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome." Lench N.J., Telford E.A.R., High A.S., Markham A.F., Wicking C., Wainwright B.J. Hum. Genet. 100:497-502(1997) [PubMed: 9341860] [Abstract] Cited for: VARIANT NBCCS ASP-1438.
[8]	"Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene." Hasenpusch-Theil K., Bataille V., Laehdetie J., Obermayr F., Sampson J.R., Frischauf A.-M. Hum. Mutat. 11:480-480(1998) [PubMed: 10200051] [Abstract] Cited for: VARIANT LEU-1315.
[9]	"Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome." Aszterbaum M., Rothman A.L., Johnson R.L., Fisher M., Xie J., Bonifas J.M., Zhang X., Scott M.P., Epstein E.H. Jr. J. Invest. Dermatol. 110:885-888(1998) [PubMed: 9620294] [Abstract] Cited for: VARIANTS BCNS SER-376 AND VAL-1083 INS, VARIANT BCC TRP-1114.
[10]	"Identification of PATCHED mutations in medulloblastomas by direct sequencing." Dong J., Gailani M.R., Pomeroy S.L., Reardon D., Bale A.E. Hum. Mutat. 16:89-90(2000) [PubMed: 10874314] [Abstract] Cited for: VARIANT LEU-1315.
[11]	"Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer." Reifenberger J., Arnold N., Kiechle M., Reifenberger G., Hauschild A. J. Invest. Dermatol. 116:472-474(2001) [PubMed: 11231326] [Abstract] Cited for: VARIANT BCNS PRO-1132.
[12]	"PTCH mutations in squamous cell carcinoma of the skin." Ping X.L., Ratner D., Zhang H., Wu X.L., Zhang M.J., Chen F.F., Silvers D.N., Peacocke M., Tsou H.C. J. Invest. Dermatol. 116:614-616(2001) [PubMed: 11286632] [Abstract] Cited for: VARIANTS SQUAMOUS CELL CARCINOMA MET-829 AND LYS-1242.
[13]	"Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly." Ming J.E., Kaupas M.E., Roessler E., Brunner H.G., Golabi M., Tekin M., Stratton R.F., Sujansky E., Bale S.J., Muenke M. Hum. Genet. 110:297-301(2002) [PubMed: 11941477] [Abstract] Cited for: VARIANTS HPE7 THR-393; MET-728; GLY-827 AND MET-1052.
[14]	Erratum Ming J.E., Kaupas M.E., Roessler E., Brunner H.G., Golabi M., Tekin M., Stratton R.F., Sujansky E., Bale S.J., Muenke M. Hum. Genet. 111:464-464(2002)
[15]	"Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles." Savino M., d'Apolito M., Formica V., Baorda F., Mari F., Renieri A., Carabba E., Tarantino E., Andreucci E., Belli S., Lo Muzio L., Dallapiccola B., Zelante L., Savoia A. Hum. Mutat. 24:441-441(2004) [PubMed: 15459969] [Abstract] Cited for: VARIANTS BCNS PRO-230 AND 505-LEU-ARG-506.
[16]	"GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?" Rahimov F., Ribeiro L.A., de Miranda E., Richieri-Costa A., Murray J.C. Am. J. Med. Genet. A 140:2571-2576(2006) [PubMed: 17096318] [Abstract] Cited for: VARIANT HPE7 MET-728.
[17]	"PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI." Ribeiro L.A., Murray J.C., Richieri-Costa A. Am. J. Med. Genet. A 140:2584-2586(2006) [PubMed: 17001668] [Abstract] Cited for: VARIANTS HPE7 GLY-443; GLY-751; GLY-908 AND MET-1052.
+	Additional computationally mapped references.

Web resources

PTCH1 mutation database

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	U59464 mRNA. Translation: AAC50550.1. AL161729 Genomic DNA. Translation: CAH73817.1. U43148 mRNA. Translation: AAC50496.1.
IPI	IPI00014374.
RefSeq	NP_000255.2. NP_001077071.1. NP_001077072.1. NP_001077073.1. NP_001077074.1. NP_001077075.1. NP_001077076.1.
UniGene	Hs.494538 Hs.638946
3D structure databases
SMR	Q13635. Positions 472-621, 1008-1180.
ModBase	Search...
Protein-protein interaction databases
STRING	Q13635.
PTM databases
PhosphoSite	Q13635.
Proteomic databases
PRIDE	Q13635.
Genome annotation databases
Ensembl	ENST00000331920; ENSP00000332353; ENSG00000185920; Homo sapiens. [Genome view] ENST00000375274; ENSP00000364423; ENSG00000185920; Homo sapiens. [Genome view]
GeneID	5727.
KEGG	hsa:5727.
UCSC	uc004avk.2. human.
Organism-specific databases
CTD	5727.
GeneCards	GC09M097246.
H-InvDB	HIX0025725. HIX0035051.
HGNC	HGNC:9585. PTCH1.
HPA	CAB013717.
MIM	109400. phenotype. 601309. gene. 605462. phenotype. 610828. phenotype.
Orphanet	377. Gorlin syndrome. 2162. Holoprosencephaly.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG713504.
HOVERGEN	Q13635.
InParanoid	Q13635.
OMA	RPSYCDA.
PhylomeDB	Q13635.
Enzyme and pathway databases
Pathway_Interaction_DB	glypican_3pathway. Glypican 3 network. hedgehog_glipathway. Hedgehog signaling events mediated by Gli proteins. hedgehog_2pathway. Signaling events mediated by the Hedgehog family.
Gene expression databases
ArrayExpress	Q13635.
Bgee	Q13635.
CleanEx	HS_PTCH1.
Genevestigator	Q13635.
GermOnline	ENSG00000185920. Homo sapiens.
Family and domain databases
InterPro	IPR003392. Patched. IPR000731. SSD_5TM. IPR004766. TM_rcpt_patched. [Graphical view]
Pfam	PF02460. Patched. 1 hit. [Graphical view]
TIGRFAMs	TIGR00918. 2A060602. 1 hit.
PROSITE	PS50156. SSD. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	22266.
SOURCE	Search...

Entry information

Entry name

PTC1_HUMAN

Accession

Primary (citable) accession number: Q13635
Secondary accession number(s): Q13463, Q5VZC0

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	October 23, 2007
Last modified:	February 9, 2010
This is version 104 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.