PTCH1

Functionⁱ

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.

1 Publication

GO - Molecular functionⁱ

cholesterol binding
Source: BHF-UCL
Inferred from direct assayⁱ
- "The hedgehog receptor patched is involved in cholesterol transport."
  Bidet M., Joubert O., Lacombe B., Ciantar M., Nehme R., Mollat P., Bretillon L., Faure H., Bittman R., Ruat M., Mus-Veteau I.
  PLoS One 6:e23834-e23834(2011) [PubMed] [Europe PMC] [Abstract]
cyclin binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- "Patched1 interacts with cyclin B1 to regulate cell cycle progression."
  Barnes E.A., Kong M., Ollendorff V., Donoghue D.J.
  EMBO J 20:2214-2223(2001) [PubMed] [Europe PMC] [Abstract]
hedgehog family protein binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- "Characterization of two patched receptors for the vertebrate hedgehog protein family."
  Carpenter D., Stone D.M., Brush J., Ryan A., Armanini M., Frantz G., Rosenthal A., de Sauvage F.J.
  Proc. Natl. Acad. Sci. U.S.A. 95:13630-13634(1998) [PubMed] [Europe PMC] [Abstract]
hedgehog receptor activity
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
  Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
  Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
heparin binding Source: Ensembl
patched binding Source: Ensembl
protein-containing complex binding Source: Ensembl
smoothened binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- "The sonic hedgehog receptor patched associates with caveolin-1 in cholesterol-rich microdomains of the plasma membrane."
  Karpen H.E., Bukowski J.T., Hughes T., Gratton J.P., Sessa W.C., Gailani M.R.
  J Biol Chem 276:19503-19511(2001) [PubMed] [Europe PMC] [Abstract]
- "Characterization of two patched receptors for the vertebrate hedgehog protein family."
  Carpenter D., Stone D.M., Brush J., Ryan A., Armanini M., Frantz G., Rosenthal A., de Sauvage F.J.
  Proc. Natl. Acad. Sci. U.S.A. 95:13630-13634(1998) [PubMed] [Europe PMC] [Abstract]

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Receptor

Molecular function

Receptor

Enzyme and pathway databases

PathwayCommonsⁱ	Q13635
Reactomeⁱ	R-HSA-373080, Class B/2 (Secretin family receptors) R-HSA-5610787, Hedgehog 'off' state R-HSA-5632681, Ligand-receptor interactions R-HSA-5632684, Hedgehog 'on' state R-HSA-5635838, Activation of SMO
SignaLinkⁱ	Q13635
SIGNORⁱ	Q13635

Protein family/group databases

TCDBⁱ	2.A.6.6.13, the resistance-nodulation-cell division (rnd) superfamily

TCDBⁱ

2.A.6.6.13, the resistance-nodulation-cell division (rnd) superfamily

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Protein patched homolog 1 Short name: PTC Short name: PTC1
Gene namesⁱ	Name:PTCH1 Synonyms:PTCH
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:9585, PTCH1
MIMⁱ	601309, gene
neXtProtⁱ	NX_Q13635
VEuPathDBⁱ	HostDB:ENSG00000185920.15

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	1 – 100	CytoplasmicSequence analysisAdd BLAST	100
Transmembraneⁱ	101 – 121	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	122 – 436	ExtracellularSequence analysisAdd BLAST	315
Transmembraneⁱ	437 – 457	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	458 – 472	CytoplasmicSequence analysisAdd BLAST	15
Transmembraneⁱ	473 – 493	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	494 – 501	ExtracellularSequence analysis	8
Transmembraneⁱ	502 – 522	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	523 – 547	CytoplasmicSequence analysisAdd BLAST	25
Transmembraneⁱ	548 – 568	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	569 – 577	ExtracellularSequence analysis	9
Transmembraneⁱ	578 – 598	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	599 – 748	CytoplasmicSequence analysisAdd BLAST	150
Transmembraneⁱ	749 – 769	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	770 – 1027	ExtracellularSequence analysisAdd BLAST	258
Transmembraneⁱ	1028 – 1048	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	1049 – 1055	CytoplasmicSequence analysis	7
Transmembraneⁱ	1056 – 1076	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	1077 – 1083	ExtracellularSequence analysis	7
Transmembraneⁱ	1084 – 1104	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	1105 – 1121	CytoplasmicSequence analysisAdd BLAST	17
Transmembraneⁱ	1122 – 1141	HelicalSequence analysisAdd BLAST	20
Topological domainⁱ	1142 – 1154	ExtracellularSequence analysisAdd BLAST	13
Transmembraneⁱ	1155 – 1175	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	1176 – 1447	CytoplasmicSequence analysisAdd BLAST	272

Keywords - Cellular componentⁱ

Cell membrane, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Basal cell nevus syndrome (BCNS)5 Publications

The disease may be caused by variants affecting the gene represented in this entry.

Disease descriptionAn autosomal dominant 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 basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_007843	175	L → P in BCNS; sporadic BCC. 1 Publication	1
Natural variantⁱVAR_020845	230	T → P in BCNS. 1 Publication	1
Natural variantⁱVAR_007844	376	F → S in BCNS. 1 Publication	1
Natural variantⁱVAR_020846	505 – 506	FL → LR in BCNS.	2
Natural variantⁱVAR_010974	509	G → R in BCNS; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_010975	509	G → V in BCNS. 1 Publication	1
Natural variantⁱVAR_010976	513	D → Y in BCNS. 1 Publication	1
Natural variantⁱVAR_007845	815	I → IPNI in BCNS.	1
Natural variantⁱVAR_010977	816	Missing in BCNS. 1 Publication	1
Natural variantⁱVAR_010979	1069	G → R in BCNS. 1 Publication	1
Natural variantⁱVAR_007846	1083	V → VV in BCNS. 1 Publication	1
Natural variantⁱVAR_007847	1114	R → W in BCNS and BCC. 1 PublicationCorresponds to variant dbSNP:rs587776689EnsemblClinVar.	1
Natural variantⁱVAR_010980	1132	S → P in BCNS. 1 PublicationCorresponds to variant dbSNP:rs878853856EnsemblClinVar.	1
Natural variantⁱVAR_010981	1132	S → Y in BCNS. 1 Publication	1
Natural variantⁱVAR_010984	1438	E → D in BCNS; sporadic NBCCS. 1 Publication	1

Basal cell carcinoma (BCC)2 Publications

The disease is caused by variants affecting the gene represented in this entry.

Disease descriptionA 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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_007847	1114	R → W in BCNS and BCC. 1 PublicationCorresponds to variant dbSNP:rs587776689EnsemblClinVar.		1

Holoprosencephaly 7 (HPE7)3 Publications

The disease is caused by variants affecting the gene represented in this entry.

Disease descriptionA 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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_032952	393	A → T in HPE7. 1 PublicationCorresponds to variant dbSNP:rs199476091EnsemblClinVar.	1
Natural variantⁱVAR_032953	443	A → G in HPE7. 1 PublicationCorresponds to variant dbSNP:rs878853845EnsemblClinVar.	1
Natural variantⁱVAR_032954	728	T → M in HPE7. 2 PublicationsCorresponds to variant dbSNP:rs115556836EnsemblClinVar.	1
Natural variantⁱVAR_032955	751	V → G in HPE7. 1 Publication	1
Natural variantⁱVAR_032956	827	S → G in HPE7. 1 PublicationCorresponds to variant dbSNP:rs199476092EnsemblClinVar.	1
Natural variantⁱVAR_032957	908	V → G in HPE7. 1 PublicationCorresponds to variant dbSNP:rs199476093EnsemblClinVar.	1
Natural variantⁱVAR_032958	1052	T → M in HPE7. 2 PublicationsCorresponds to variant dbSNP:rs138911275EnsemblClinVar.	1

Keywords - Diseaseⁱ

Disease variant, Holoprosencephaly, Tumor suppressor

Organism-specific databases

DisGeNET More...DisGeNETⁱ	5727
GeneReviewsⁱ	PTCH1
MalaCards human disease database More...MalaCardsⁱ	PTCH1
MIMⁱ	109400, phenotype 605462, phenotype 610828, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000185920
Orphanetⁱ	93925, Alobar holoprosencephaly 377, Gorlin syndrome 93924, Lobar holoprosencephaly 280200, Microform holoprosencephaly 93926, Midline interhemispheric variant of holoprosencephaly 77301, Monosomy 9q22.3 2353, Schilbach-Rott syndrome 220386, Semilobar holoprosencephaly 280195, Septopreoptic holoprosencephaly
PharmGKBⁱ	PA33937

Miscellaneous databases

Pharosⁱ	Q13635, Tbio

Pharosⁱ

Q13635, Tbio

Genetic variation databases

BioMutaⁱ	PTCH1
DMDMⁱ	160415977

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000205964	1 – 1447	Protein patched homolog 1Add BLAST		1447

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Glycosylationⁱ	141	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	312	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	349	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	414	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	875	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	1000	N-linked (GlcNAc...) asparagineSequence analysis	1
Modified residueⁱ	1195	PhosphothreonineBy similarity	1
Modified residueⁱ	1197	PhosphoserineBy similarity	1
Cross-linkⁱ	1426	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity

Post-translational modificationⁱ

Glycosylation is necessary for SHH binding.By similarity

In the absence of Hh ligands, ubiquitination by ITCH at Lys-1426 promotes endocytosis and both proteasomal and lysosomal degradation.By similarity

Keywords - PTMⁱ

Glycoprotein, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDⁱ	Q13635
jPOSTⁱ	Q13635
MassIVEⁱ	Q13635
PaxDbⁱ	Q13635
PeptideAtlas More...PeptideAtlasⁱ	Q13635
PRIDEⁱ	Q13635
ProteomicsDBⁱ	59627 [Q13635-1] 59628 [Q13635-2] 59629 [Q13635-3] 59630 [Q13635-4]

PTM databases

GlyGenⁱ	Q13635, 8 sites
iPTMnetⁱ	Q13635
PhosphoSitePlusⁱ	Q13635

Expressionⁱ

Tissue specificityⁱ

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 stageⁱ

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.

Gene expression databases

Bgeeⁱ	ENSG00000185920, Expressed in tibia and 233 other tissues
ExpressionAtlasⁱ	Q13635, baseline and differential
Genevisibleⁱ	Q13635, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000185920, Low tissue specificity

HPAⁱ

ENSG00000185920, Low tissue specificity

Interactionⁱ

Subunit structureⁱ

Interacts with SNX17 (PubMed:15769472).

Interacts with IHH (PubMed:21537345).

Interacts with G-protein coupled receptor GPR37L1 (By similarity).

By similarity2 Publications

Binary interactionsⁱ

Hide details

Q13635

With	#Exp.	IntAct
CCNB1 [P14635]	2	EBI-8775406,EBI-495332
CDON [Q4KMG0]	2	EBI-8775406,EBI-7016840
GRK2 [P25098]	2	EBI-8775406,EBI-3904795
SHH [Q15465]	2	EBI-8775406,EBI-11666886
YAP1 [P46937]	3	EBI-8775406,EBI-1044059
Cdon [O35158] from Rattus norvegicus.	2	EBI-8775406,EBI-7016767
GRK2 [P21146] from Bos taurus.	4	EBI-8775406,EBI-1036401

Isoform L [Q13635-1]

With	#Exp.	IntAct
SHH [Q15465]	4	EBI-13635488,EBI-11666886

Isoform M [Q13635-3]

With	#Exp.	IntAct
APPBP2 [Q92624]	3	EBI-14199621,EBI-743771
CD200R1 - isoform 4 [Q8TD46-4]	3	EBI-14199621,EBI-12824513
CD74 - isoform p35 [P04233-2]	3	EBI-14199621,EBI-12222807
CD79A [P11912]	3	EBI-14199621,EBI-7797864
FAM209A [Q5JX71]	3	EBI-14199621,EBI-18304435
HIBADH [P31937]	3	EBI-14199621,EBI-11427100
HTT [P42858]	3	EBI-14199621,EBI-466029
SIGLEC12 [Q96PQ1]	3	EBI-14199621,EBI-17640454
STOM [P27105]	3	EBI-14199621,EBI-1211440
TMPRSS2 - isoform 2 [O15393-2]	3	EBI-14199621,EBI-12345267

GO - Molecular functionⁱ

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGRIDⁱ	111699, 205 interactors
CORUMⁱ	Q13635
Database of interacting proteins More...DIPⁱ	DIP-44940N
IntActⁱ	Q13635, 78 interactors
Molecular INTeraction database More...MINTⁱ	Q13635
STRINGⁱ	9606.ENSP00000332353

Miscellaneous databases

RNActⁱ	Q13635, protein

RNActⁱ

Q13635, protein

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	48 – 51	Combined sources	4
Turnⁱ	53 – 55	Combined sources	3
Helixⁱ	58 – 67	Combined sources	10
Beta strandⁱ	74 – 77	Combined sources	4
Helixⁱ	78 – 96	Combined sources	19
Helixⁱ	99 – 113	Combined sources	15
Helixⁱ	114 – 118	Combined sources	5
Helixⁱ	125 – 128	Combined sources	4
Beta strandⁱ	132 – 134	Combined sources	3
Helixⁱ	135 – 146	Combined sources	12
Beta strandⁱ	148 – 150	Combined sources	3
Beta strandⁱ	155 – 164	Combined sources	10
Helixⁱ	172 – 186	Combined sources	15
Beta strandⁱ	189 – 192	Combined sources	4
Beta strandⁱ	195 – 198	Combined sources	4
Helixⁱ	199 – 202	Combined sources	4
Beta strandⁱ	205 – 210	Combined sources	6
Helixⁱ	214 – 223	Combined sources	10
Helixⁱ	231 – 234	Combined sources	4
Helixⁱ	236 – 241	Combined sources	6
Beta strandⁱ	249 – 253	Combined sources	5
Turnⁱ	256 – 258	Combined sources	3
Helixⁱ	261 – 269	Combined sources	9
Turnⁱ	270 – 272	Combined sources	3
Helixⁱ	276 – 285	Combined sources	10
Turnⁱ	288 – 293	Combined sources	6
Beta strandⁱ	299 – 301	Combined sources	3
Turnⁱ	309 – 312	Combined sources	4
Helixⁱ	319 – 323	Combined sources	5
Turnⁱ	332 – 334	Combined sources	3
Beta strandⁱ	336 – 338	Combined sources	3
Helixⁱ	339 – 342	Combined sources	4
Beta strandⁱ	343 – 345	Combined sources	3
Beta strandⁱ	347 – 349	Combined sources	3
Helixⁱ	350 – 352	Combined sources	3
Beta strandⁱ	354 – 356	Combined sources	3
Beta strandⁱ	358 – 366	Combined sources	9
Helixⁱ	369 – 376	Combined sources	8
Helixⁱ	380 – 382	Combined sources	3
Beta strandⁱ	383 – 385	Combined sources	3
Helixⁱ	389 – 409	Combined sources	21
Beta strandⁱ	413 – 415	Combined sources	3
Beta strandⁱ	416 – 422	Combined sources	7
Helixⁱ	426 – 434	Combined sources	9
Helixⁱ	439 – 457	Combined sources	19
Turnⁱ	462 – 464	Combined sources	3
Helixⁱ	467 – 490	Combined sources	24
Beta strandⁱ	497 – 499	Combined sources	3
Turnⁱ	500 – 502	Combined sources	3
Helixⁱ	503 – 511	Combined sources	9
Helixⁱ	512 – 514	Combined sources	3
Helixⁱ	515 – 523	Combined sources	9
Beta strandⁱ	526 – 528	Combined sources	3
Turnⁱ	532 – 534	Combined sources	3
Helixⁱ	536 – 543	Combined sources	8
Helixⁱ	546 – 553	Combined sources	8
Helixⁱ	556 – 561	Combined sources	6
Helixⁱ	568 – 573	Combined sources	6
Helixⁱ	576 – 590	Combined sources	15
Helixⁱ	592 – 604	Combined sources	13
Helixⁱ	732 – 738	Combined sources	7
Helixⁱ	741 – 744	Combined sources	4
Helixⁱ	747 – 769	Combined sources	23
Turnⁱ	777 – 780	Combined sources	4
Beta strandⁱ	783 – 785	Combined sources	3
Helixⁱ	788 – 796	Combined sources	9
Beta strandⁱ	801 – 809	Combined sources	9
Helixⁱ	812 – 814	Combined sources	3
Helixⁱ	816 – 825	Combined sources	10
Helixⁱ	826 – 828	Combined sources	3
Beta strandⁱ	829 – 832	Combined sources	4
Beta strandⁱ	836 – 838	Combined sources	3
Helixⁱ	844 – 864	Combined sources	21
Beta strandⁱ	869 – 871	Combined sources	3
Beta strandⁱ	873 – 876	Combined sources	4
Helixⁱ	878 – 887	Combined sources	10
Beta strandⁱ	893 – 895	Combined sources	3
Helixⁱ	899 – 903	Combined sources	5
Helixⁱ	910 – 912	Combined sources	3
Beta strandⁱ	916 – 918	Combined sources	3
Helixⁱ	919 – 929	Combined sources	11
Helixⁱ	931 – 934	Combined sources	4
Turnⁱ	957 – 959	Combined sources	3
Beta strandⁱ	972 – 978	Combined sources	7
Helixⁱ	984 – 1004	Combined sources	21
Beta strandⁱ	1007 – 1012	Combined sources	6
Helixⁱ	1013 – 1016	Combined sources	4
Helixⁱ	1017 – 1019	Combined sources	3
Helixⁱ	1020 – 1022	Combined sources	3
Helixⁱ	1024 – 1047	Combined sources	24
Helixⁱ	1051 – 1074	Combined sources	24
Helixⁱ	1081 – 1102	Combined sources	22
Turnⁱ	1103 – 1106	Combined sources	4
Beta strandⁱ	1108 – 1110	Combined sources	3
Helixⁱ	1111 – 1120	Combined sources	10
Helixⁱ	1124 – 1137	Combined sources	14
Helixⁱ	1138 – 1140	Combined sources	3
Beta strandⁱ	1142 – 1145	Combined sources	4
Beta strandⁱ	1146 – 1148	Combined sources	3
Turnⁱ	1149 – 1152	Combined sources	4
Helixⁱ	1153 – 1167	Combined sources	15
Helixⁱ	1170 – 1177	Combined sources	8

Show more details

3D structure databases

SMRⁱ	Q13635
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	438 – 598	SSDPROSITE-ProRule annotationAdd BLAST		161

Region

Feature key	Position(s)	DescriptionActions	Length
Regionⁱ	1 – 43	DisorderedSequence analysisAdd BLAST	43
Regionⁱ	1189 – 1234	DisorderedSequence analysisAdd BLAST	46
Regionⁱ	1270 – 1360	DisorderedSequence analysisAdd BLAST	91

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	1193 – 1207	Pro residuesSequence analysisAdd BLAST		15
Compositional biasⁱ	1214 – 1234	Polar residuesSequence analysisAdd BLAST		21

Sequence similaritiesⁱ

Belongs to the patched family.Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG1935, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000159011
HOGENOMⁱ	CLU_002506_1_0_1
InParanoidⁱ	Q13635
OMAⁱ	FEYPTQQ
Database of Orthologous Groups More...OrthoDBⁱ	1190129at2759
PhylomeDBⁱ	Q13635
TreeFamⁱ	TF106489

Family and domain databases

InterProⁱ	View protein in InterPro IPR003392, Ptc/Disp IPR000731, SSD IPR004766, TM_rcpt_patched
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF02460, Patched, 2 hits
TIGRFAMsⁱ	TIGR00918, 2A060602, 1 hit
PROSITEⁱ	View protein in PROSITE PS50156, SSD, 1 hit

Sequences (4+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 4 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 4 described isoforms and 8 potential isoforms that are computationally mapped.Show all Align All

Isoform L (identifier: Q13635-1) [UniParc]FASTA Add to basket

Also known as: 1B

This isoform has been chosen as the canonicalⁱ sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

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

Length:1,447

Mass (Da):160,545

Last modified:October 23, 2007 - v2

Checksum:ⁱF2937247BC812F85

GO

Isoform L' (identifier: Q13635-2) [UniParc]FASTA Add to basket

Also known as: 1Ckid

The sequence of this isoform differs from the canonical sequence as follows:
1-66: MASAGNAAEP...DAAFALEQIS → MELLNRNRLV...DRGDKETRSD

« Hide

        10         20         30         40         50
MELLNRNRLV IVSPRCTPPK ASGGPARRGF YTFRSFCKDG GGGEEEEENG 
        60         70         80         90        100
GEEKDDRGDK ETRSDKGKAT GRKAPLWLRA KFQRLLFKLG CYIQKNCGKF 
       110        120        130        140        150
LVVGLLIFGA FAVGLKAANL ETNVEELWVE VGGRVSRELN YTRQKIGEEA 
       160        170        180        190        200
MFNPQLMIQT PKEEGANVLT TEALLQHLDS ALQASRVHVY MYNRQWKLEH 
       210        220        230        240        250
LCYKSGELIT ETGYMDQIIE YLYPCLIITP LDCFWEGAKL QSGTAYLLGK 
       260        270        280        290        300
PPLRWTNFDP LEFLEELKKI NYQVDSWEEM LNKAEVGHGY MDRPCLNPAD 
       310        320        330        340        350
PDCPATAPNK NSTKPLDMAL VLNGGCHGLS RKYMHWQEEL IVGGTVKNST 
       360        370        380        390        400
GKLVSAHALQ TMFQLMTPKQ MYEHFKGYEY VSHINWNEDK AAAILEAWQR 
       410        420        430        440        450
TYVEVVHQSV AQNSTQKVLS FTTTTLDDIL KSFSDVSVIR VASGYLLMLA 
       460        470        480        490        500
YACLTMLRWD CSKSQGAVGL AGVLLVALSV AAGLGLCSLI GISFNAATTQ 
       510        520        530        540        550
VLPFLALGVG VDDVFLLAHA FSETGQNKRI PFEDRTGECL KRTGASVALT 
       560        570        580        590        600
SISNVTAFFM AALIPIPALR AFSLQAAVVV VFNFAMVLLI FPAILSMDLY 
       610        620        630        640        650
RREDRRLDIF CCFTSPCVSR VIQVEPQAYT DTHDNTRYSP PPPYSSHSFA 
       660        670        680        690        700
HETQITMQST VQLRTEYDPH THVYYTTAEP RSEISVQPVT VTQDTLSCQS 
       710        720        730        740        750
PESTSSTRDL LSQFSDSSLH CLEPPCTKWT LSSFAEKHYA PFLLKPKAKV 
       760        770        780        790        800
VVIFLFLGLL GVSLYGTTRV RDGLDLTDIV PRETREYDFI AAQFKYFSFY 
       810        820        830        840        850
NMYIVTQKAD YPNIQHLLYD LHRSFSNVKY VMLEENKQLP KMWLHYFRDW 
       860        870        880        890        900
LQGLQDAFDS DWETGKIMPN NYKNGSDDGV LAYKLLVQTG SRDKPIDISQ 
       910        920        930        940        950
LTKQRLVDAD GIINPSAFYI YLTAWVSNDP VAYAASQANI RPHRPEWVHD 
       960        970        980        990       1000
KADYMPETRL RIPAAEPIEY AQFPFYLNGL RDTSDFVEAI EKVRTICSNY 
      1010       1020       1030       1040       1050
TSLGLSSYPN GYPFLFWEQY IGLRHWLLLF ISVVLACTFL VCAVFLLNPW 
      1060       1070       1080       1090       1100
TAGIIVMVLA LMTVELFGMM GLIGIKLSAV PVVILIASVG IGVEFTVHVA 
      1110       1120       1130       1140       1150
LAFLTAIGDK NRRAVLALEH MFAPVLDGAV STLLGVLMLA GSEFDFIVRY 
      1160       1170       1180       1190       1200
FFAVLAILTI LGVLNGLVLL PVLLSFFGPY PEVSPANGLN RLPTPSPEPP 
      1210       1220       1230       1240       1250
PSVVRFAMPP GHTHSGSDSS DSEYSSQTTV SGLSEELRHY EAQQGAGGPA 
      1260       1270       1280       1290       1300
HQVIVEATEN PVFAHSTVVH PESRHHPPSN PRQQPHLDSG SLPPGRQGQQ 
      1310       1320       1330       1340       1350
PRRDPPREGL WPPPYRPRRD AFEISTEGHS GPSNRARWGP RGARSHNPRN 
      1360       1370       1380       1390       1400
PASTAMGSSV PGYCQPITTV TASASVTVAV HPPPVPGPGR NPRGGLCPGY 
      1410       1420       1430       1440 
PETDHGLFED PHVPFHVRCE RRDSKVEVIE LQDVECEERP RGSSSN

Show »

Length:1,446

Mass (Da):161,038

Checksum:ⁱE6AE7954E04633D1

GO

Isoform M (identifier: Q13635-3) [UniParc]FASTA Add to basket

Also known as: 1C

The sequence of this isoform differs from the canonical sequence as follows:
2-67: Missing.

« Hide

        10         20         30         40         50
MGKATGRKAP LWLRAKFQRL LFKLGCYIQK NCGKFLVVGL LIFGAFAVGL 
        60         70         80         90        100
KAANLETNVE ELWVEVGGRV SRELNYTRQK IGEEAMFNPQ LMIQTPKEEG 
       110        120        130        140        150
ANVLTTEALL QHLDSALQAS RVHVYMYNRQ WKLEHLCYKS GELITETGYM 
       160        170        180        190        200
DQIIEYLYPC LIITPLDCFW EGAKLQSGTA YLLGKPPLRW TNFDPLEFLE 
       210        220        230        240        250
ELKKINYQVD SWEEMLNKAE VGHGYMDRPC LNPADPDCPA TAPNKNSTKP 
       260        270        280        290        300
LDMALVLNGG CHGLSRKYMH WQEELIVGGT VKNSTGKLVS AHALQTMFQL 
       310        320        330        340        350
MTPKQMYEHF KGYEYVSHIN WNEDKAAAIL EAWQRTYVEV VHQSVAQNST 
       360        370        380        390        400
QKVLSFTTTT LDDILKSFSD VSVIRVASGY LLMLAYACLT MLRWDCSKSQ 
       410        420        430        440        450
GAVGLAGVLL VALSVAAGLG LCSLIGISFN AATTQVLPFL ALGVGVDDVF 
       460        470        480        490        500
LLAHAFSETG QNKRIPFEDR TGECLKRTGA SVALTSISNV TAFFMAALIP 
       510        520        530        540        550
IPALRAFSLQ AAVVVVFNFA MVLLIFPAIL SMDLYRREDR RLDIFCCFTS 
       560        570        580        590        600
PCVSRVIQVE PQAYTDTHDN TRYSPPPPYS SHSFAHETQI TMQSTVQLRT 
       610        620        630        640        650
EYDPHTHVYY TTAEPRSEIS VQPVTVTQDT LSCQSPESTS STRDLLSQFS 
       660        670        680        690        700
DSSLHCLEPP CTKWTLSSFA EKHYAPFLLK PKAKVVVIFL FLGLLGVSLY 
       710        720        730        740        750
GTTRVRDGLD LTDIVPRETR EYDFIAAQFK YFSFYNMYIV TQKADYPNIQ 
       760        770        780        790        800
HLLYDLHRSF SNVKYVMLEE NKQLPKMWLH YFRDWLQGLQ DAFDSDWETG 
       810        820        830        840        850
KIMPNNYKNG SDDGVLAYKL LVQTGSRDKP IDISQLTKQR LVDADGIINP 
       860        870        880        890        900
SAFYIYLTAW VSNDPVAYAA SQANIRPHRP EWVHDKADYM PETRLRIPAA 
       910        920        930        940        950
EPIEYAQFPF YLNGLRDTSD FVEAIEKVRT ICSNYTSLGL SSYPNGYPFL 
       960        970        980        990       1000
FWEQYIGLRH WLLLFISVVL ACTFLVCAVF LLNPWTAGII VMVLALMTVE 
      1010       1020       1030       1040       1050
LFGMMGLIGI KLSAVPVVIL IASVGIGVEF TVHVALAFLT AIGDKNRRAV 
      1060       1070       1080       1090       1100
LALEHMFAPV LDGAVSTLLG VLMLAGSEFD FIVRYFFAVL AILTILGVLN 
      1110       1120       1130       1140       1150
GLVLLPVLLS FFGPYPEVSP ANGLNRLPTP SPEPPPSVVR FAMPPGHTHS 
      1160       1170       1180       1190       1200
GSDSSDSEYS SQTTVSGLSE ELRHYEAQQG AGGPAHQVIV EATENPVFAH 
      1210       1220       1230       1240       1250
STVVHPESRH HPPSNPRQQP HLDSGSLPPG RQGQQPRRDP PREGLWPPPY 
      1260       1270       1280       1290       1300
RPRRDAFEIS TEGHSGPSNR ARWGPRGARS HNPRNPASTA MGSSVPGYCQ 
      1310       1320       1330       1340       1350
PITTVTASAS VTVAVHPPPV PGPGRNPRGG LCPGYPETDH GLFEDPHVPF 
      1360       1370       1380 
HVRCERRDSK VEVIELQDVE CEERPRGSSS N

Show »

Length:1,381

Mass (Da):153,853

Checksum:ⁱF37D7805A3C69472

GO

Isoform S (identifier: Q13635-4) [UniParc]FASTA Add to basket

Also known as: 1A, 1CdeltaE2

The sequence of this isoform differs from the canonical sequence as follows:
2-152: Missing.

« Hide

        10         20         30         40         50
MFNPQLMIQT PKEEGANVLT TEALLQHLDS ALQASRVHVY MYNRQWKLEH 
        60         70         80         90        100
LCYKSGELIT ETGYMDQIIE YLYPCLIITP LDCFWEGAKL QSGTAYLLGK 
       110        120        130        140        150
PPLRWTNFDP LEFLEELKKI NYQVDSWEEM LNKAEVGHGY MDRPCLNPAD 
       160        170        180        190        200
PDCPATAPNK NSTKPLDMAL VLNGGCHGLS RKYMHWQEEL IVGGTVKNST 
       210        220        230        240        250
GKLVSAHALQ TMFQLMTPKQ MYEHFKGYEY VSHINWNEDK AAAILEAWQR 
       260        270        280        290        300
TYVEVVHQSV AQNSTQKVLS FTTTTLDDIL KSFSDVSVIR VASGYLLMLA 
       310        320        330        340        350
YACLTMLRWD CSKSQGAVGL AGVLLVALSV AAGLGLCSLI GISFNAATTQ 
       360        370        380        390        400
VLPFLALGVG VDDVFLLAHA FSETGQNKRI PFEDRTGECL KRTGASVALT 
       410        420        430        440        450
SISNVTAFFM AALIPIPALR AFSLQAAVVV VFNFAMVLLI FPAILSMDLY 
       460        470        480        490        500
RREDRRLDIF CCFTSPCVSR VIQVEPQAYT DTHDNTRYSP PPPYSSHSFA 
       510        520        530        540        550
HETQITMQST VQLRTEYDPH THVYYTTAEP RSEISVQPVT VTQDTLSCQS 
       560        570        580        590        600
PESTSSTRDL LSQFSDSSLH CLEPPCTKWT LSSFAEKHYA PFLLKPKAKV 
       610        620        630        640        650
VVIFLFLGLL GVSLYGTTRV RDGLDLTDIV PRETREYDFI AAQFKYFSFY 
       660        670        680        690        700
NMYIVTQKAD YPNIQHLLYD LHRSFSNVKY VMLEENKQLP KMWLHYFRDW 
       710        720        730        740        750
LQGLQDAFDS DWETGKIMPN NYKNGSDDGV LAYKLLVQTG SRDKPIDISQ 
       760        770        780        790        800
LTKQRLVDAD GIINPSAFYI YLTAWVSNDP VAYAASQANI RPHRPEWVHD 
       810        820        830        840        850
KADYMPETRL RIPAAEPIEY AQFPFYLNGL RDTSDFVEAI EKVRTICSNY 
       860        870        880        890        900
TSLGLSSYPN GYPFLFWEQY IGLRHWLLLF ISVVLACTFL VCAVFLLNPW 
       910        920        930        940        950
TAGIIVMVLA LMTVELFGMM GLIGIKLSAV PVVILIASVG IGVEFTVHVA 
       960        970        980        990       1000
LAFLTAIGDK NRRAVLALEH MFAPVLDGAV STLLGVLMLA GSEFDFIVRY 
      1010       1020       1030       1040       1050
FFAVLAILTI LGVLNGLVLL PVLLSFFGPY PEVSPANGLN RLPTPSPEPP 
      1060       1070       1080       1090       1100
PSVVRFAMPP GHTHSGSDSS DSEYSSQTTV SGLSEELRHY EAQQGAGGPA 
      1110       1120       1130       1140       1150
HQVIVEATEN PVFAHSTVVH PESRHHPPSN PRQQPHLDSG SLPPGRQGQQ 
      1160       1170       1180       1190       1200
PRRDPPREGL WPPPYRPRRD AFEISTEGHS GPSNRARWGP RGARSHNPRN 
      1210       1220       1230       1240       1250
PASTAMGSSV PGYCQPITTV TASASVTVAV HPPPVPGPGR NPRGGLCPGY 
      1260       1270       1280       1290 
PETDHGLFED PHVPFHVRCE RRDSKVEVIE LQDVECEERP RGSSSN

Show »

Length:1,296

Mass (Da):144,356

Checksum:ⁱ66CA1F5AE1BDCE61

GO

Computationally mapped potential isoform sequencesⁱ

There are 8 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

H0Y3B8	H0Y3B8_HUMAN	Protein patched homolog 1 Protein patched homolog 1	PTCH1	352	Annotation score:
H3BLX7	H3BLX7_HUMAN	Protein patched homolog 1 Protein patched homolog 1	PTCH1	486	Annotation score:
F8VXL8	F8VXL8_HUMAN	Protein patched homolog 1 Protein patched homolog 1	PTCH1	66	Annotation score:
F8VQS6	F8VQS6_HUMAN	Protein patched homolog 1 Protein patched homolog 1	PTCH1	92	Annotation score:
F8VPA3	F8VPA3_HUMAN	Protein patched homolog 1 Protein patched homolog 1	PTCH1	79	Annotation score:
A0A0C4DGJ5	A0A0C4DGJ5_HUMAN	Protein patched homolog 1 Protein patched homolog 1	PTCH1	183	Annotation score:
H0YHK0	H0YHK0_HUMAN	Protein patched homolog 1 Protein patched homolog 1	PTCH1	16	Annotation score:
A0A0C4DGI4	A0A0C4DGI4_HUMAN	Protein patched homolog 1 Protein patched homolog 1	PTCH1	174	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	1109	G → S in AAC50496 (PubMed:8647801).Curated	1
Sequence conflictⁱ	1144	E → D in AAC50496 (PubMed:8647801).Curated	1
Sequence conflictⁱ	1175	L → W in AAC50496 (PubMed:8647801).Curated	1
Sequence conflictⁱ	1283	R → K in AAC50496 (PubMed:8647801).Curated	1
Sequence conflictⁱ	1309	E → K in AAC50496 (PubMed:8647801).Curated	1
Sequence conflictⁱ	1353	A → T in AAC50496 (PubMed:8647801).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_007843	175	L → P in BCNS; sporadic BCC. 1 Publication	1
Natural variantⁱVAR_020845	230	T → P in BCNS. 1 Publication	1
Natural variantⁱVAR_007844	376	F → S in BCNS. 1 Publication	1
Natural variantⁱVAR_032952	393	A → T in HPE7. 1 PublicationCorresponds to variant dbSNP:rs199476091EnsemblClinVar.	1
Natural variantⁱVAR_032953	443	A → G in HPE7. 1 PublicationCorresponds to variant dbSNP:rs878853845EnsemblClinVar.	1
Natural variantⁱVAR_020846	505 – 506	FL → LR in BCNS.	2
Natural variantⁱVAR_010974	509	G → R in BCNS; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_010975	509	G → V in BCNS. 1 Publication	1
Natural variantⁱVAR_010976	513	D → Y in BCNS. 1 Publication	1
Natural variantⁱVAR_032954	728	T → M in HPE7. 2 PublicationsCorresponds to variant dbSNP:rs115556836EnsemblClinVar.	1
Natural variantⁱVAR_032955	751	V → G in HPE7. 1 Publication	1
Natural variantⁱVAR_007845	815	I → IPNI in BCNS.	1
Natural variantⁱVAR_010977	816	Missing in BCNS. 1 Publication	1
Natural variantⁱVAR_032956	827	S → G in HPE7. 1 PublicationCorresponds to variant dbSNP:rs199476092EnsemblClinVar.	1
Natural variantⁱVAR_010978	829	V → M in squamous cell carcinoma. 1 PublicationCorresponds to variant dbSNP:rs201125580EnsemblClinVar.	1
Natural variantⁱVAR_032957	908	V → G in HPE7. 1 PublicationCorresponds to variant dbSNP:rs199476093EnsemblClinVar.	1
Natural variantⁱVAR_032958	1052	T → M in HPE7. 2 PublicationsCorresponds to variant dbSNP:rs138911275EnsemblClinVar.	1
Natural variantⁱVAR_010979	1069	G → R in BCNS. 1 Publication	1
Natural variantⁱVAR_007846	1083	V → VV in BCNS. 1 Publication	1
Natural variantⁱVAR_007847	1114	R → W in BCNS and BCC. 1 PublicationCorresponds to variant dbSNP:rs587776689EnsemblClinVar.	1
Natural variantⁱVAR_010980	1132	S → P in BCNS. 1 PublicationCorresponds to variant dbSNP:rs878853856EnsemblClinVar.	1
Natural variantⁱVAR_010981	1132	S → Y in BCNS. 1 Publication	1
Natural variantⁱVAR_020440	1195	T → S. Corresponds to variant dbSNP:rs2236405EnsemblClinVar.	1
Natural variantⁱVAR_010982	1242	E → K in squamous cell carcinoma. 1 PublicationCorresponds to variant dbSNP:rs779417284EnsemblClinVar.	1
Natural variantⁱVAR_020847	1282	P → L. Corresponds to variant dbSNP:rs2227968EnsemblClinVar.	1
Natural variantⁱVAR_010983	1315	P → L4 PublicationsCorresponds to variant dbSNP:rs357564EnsemblClinVar.	1
Natural variantⁱVAR_010984	1438	E → D in BCNS; sporadic NBCCS. 1 Publication	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_041369	1 – 66	MASAG…LEQIS → MELLNRNRLVIVSPRCTPPK ASGGPARRGFYTFRSFCKDG GGGEEEEENGGEEKDDRGDK ETRSD in isoform L'. 1 PublicationAdd BLAST	66
Alternative sequenceⁱVSP_041370	2 – 152	Missing in isoform S. 3 PublicationsAdd BLAST	151
Alternative sequenceⁱVSP_041371	2 – 67	Missing in isoform M. 2 PublicationsAdd BLAST	66

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U59464 mRNA Translation: AAC50550.1 U43148 mRNA Translation: AAC50496.1 AL161729 Genomic DNA No translation available. AB189436 mRNA Translation: BAD74184.1 AB189437 mRNA Translation: BAD74185.1 AB189438 mRNA Translation: BAD74186.1 AB189439 mRNA Translation: BAD74187.1 AB189440 mRNA Translation: BAD74188.1 BC043542 mRNA Translation: AAH43542.1 AB239329 mRNA Translation: BAF47712.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS43851.1 [Q13635-4] CCDS47995.1 [Q13635-2] CCDS47996.1 [Q13635-3] CCDS6714.1 [Q13635-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_000255.2, NM_000264.3 [Q13635-1] NP_001077071.1, NM_001083602.1 [Q13635-3] NP_001077072.1, NM_001083603.1 [Q13635-2] NP_001077073.1, NM_001083604.1 [Q13635-4] NP_001077074.1, NM_001083605.1 [Q13635-4] NP_001077075.1, NM_001083606.1 [Q13635-4] NP_001077076.1, NM_001083607.1 [Q13635-4]

Genome annotation databases

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q13635	Isoform S of Protein patched homolog 1		HUMAN		1296	UniRef100_Q13635
PTCH1 isoform 11 (Fragment)		PANTR		750
+1

Protein	Similar proteins		Species	Score	Length	Source
Q13635	Isoform S of Protein patched homolog 1		HUMAN		1296	UniRef90_Q13635
PTCH1 isoform 11 (Fragment)		PANTR		750
Protein patched like protein 1		TUPCH		1669
PTCH1 isoform 15 (Fragment)		PONAB		67
Patched 1		URSAM		1453
+243

Protein	Similar proteins		Species	Score	Length	Source
Q13635	Protein patched homolog 1	)	MOUSE		1434	UniRef50_Q13635
Isoform S of Protein patched homolog 1		HUMAN		1296
PTCH1 isoform 11 (Fragment)		PANTR		750
Protein patched like protein 1		TUPCH		1669
PTCH1 isoform 15 (Fragment)		PONAB		67
+1010

Cross-referencesⁱ

Web resourcesⁱ

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U59464 mRNA Translation: AAC50550.1 U43148 mRNA Translation: AAC50496.1 AL161729 Genomic DNA No translation available. AB189436 mRNA Translation: BAD74184.1 AB189437 mRNA Translation: BAD74185.1 AB189438 mRNA Translation: BAD74186.1 AB189439 mRNA Translation: BAD74187.1 AB189440 mRNA Translation: BAD74188.1 BC043542 mRNA Translation: AAH43542.1 AB239329 mRNA Translation: BAF47712.1
CCDSⁱ	CCDS43851.1 [Q13635-4] CCDS47995.1 [Q13635-2] CCDS47996.1 [Q13635-3] CCDS6714.1 [Q13635-1]
RefSeqⁱ	NP_000255.2, NM_000264.3 [Q13635-1] NP_001077071.1, NM_001083602.1 [Q13635-3] NP_001077072.1, NM_001083603.1 [Q13635-2] NP_001077073.1, NM_001083604.1 [Q13635-4] NP_001077074.1, NM_001083605.1 [Q13635-4] NP_001077075.1, NM_001083606.1 [Q13635-4] NP_001077076.1, NM_001083607.1 [Q13635-4]

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	6DMB	electron microscopy	3.90	A	1-1305	[»]
	6DMO	electron microscopy	4.10	A	1-1305	[»]
	6DMY	electron microscopy	3.60	A	1-1305	[»]
	6E1H	electron microscopy	3.50	A/B	1-1447	[»]
	6N7G	electron microscopy	6.80	A/B/D/E	1-1305	[»]
	6N7H	electron microscopy	3.60	A/B	1-1305	[»]
	6N7K	electron microscopy	6.50	A/B/D/E	1-1305	[»]
	6OEU	electron microscopy	3.50	A	1-1447	[»]
	6OEV	electron microscopy	3.80	A	1-1447	[»]
	6RMG	electron microscopy	3.40	A	1-1188	[»]
	6RTW	X-ray	1.90	A	136-423	[»]
	6RTX	X-ray	1.95	A	139-428	[»]
	6RTY	X-ray	2.10	A	136-423	[»]
	6RVC	X-ray	2.20	A/B/C	772-1023	[»]
	6RVD	electron microscopy	3.50	A/B	1-1447	[»]
SMRⁱ	Q13635
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Protein-protein interaction databases

BioGRIDⁱ	111699, 205 interactors
CORUMⁱ	Q13635
DIPⁱ	DIP-44940N
IntActⁱ	Q13635, 78 interactors
MINTⁱ	Q13635
STRINGⁱ	9606.ENSP00000332353

Protein family/group databases

TCDBⁱ	2.A.6.6.13, the resistance-nodulation-cell division (rnd) superfamily

TCDBⁱ

2.A.6.6.13, the resistance-nodulation-cell division (rnd) superfamily

PTM databases

GlyGenⁱ	Q13635, 8 sites
iPTMnetⁱ	Q13635
PhosphoSitePlusⁱ	Q13635

Genetic variation databases

BioMutaⁱ	PTCH1
DMDMⁱ	160415977

Proteomic databases

EPDⁱ	Q13635
jPOSTⁱ	Q13635
MassIVEⁱ	Q13635
PaxDbⁱ	Q13635
PeptideAtlasⁱ	Q13635
PRIDEⁱ	Q13635
ProteomicsDBⁱ	59627 [Q13635-1] 59628 [Q13635-2] 59629 [Q13635-3] 59630 [Q13635-4]

Protocols and materials databases

Antibodypediaⁱ	4435, 679 antibodies
The DNASU plasmid repository More...DNASUⁱ	5727

Genome annotation databases

Ensemblⁱ	ENST00000331920; ENSP00000332353; ENSG00000185920 [Q13635-1] ENST00000375274; ENSP00000364423; ENSG00000185920 [Q13635-2] ENST00000418258; ENSP00000396135; ENSG00000185920 [Q13635-4] ENST00000421141; ENSP00000399981; ENSG00000185920 [Q13635-4] ENST00000429896; ENSP00000414823; ENSG00000185920 [Q13635-4] ENST00000430669; ENSP00000410287; ENSG00000185920 [Q13635-3] ENST00000437951; ENSP00000389744; ENSG00000185920 [Q13635-3]
GeneIDⁱ	5727
KEGGⁱ	hsa:5727
UCSCⁱ	uc004avk.5, human [Q13635-1]

Organism-specific databases

CTDⁱ	5727
DisGeNETⁱ	5727
GeneCardsⁱ	PTCH1
GeneReviewsⁱ	PTCH1
HGNCⁱ	HGNC:9585, PTCH1
HPAⁱ	ENSG00000185920, Low tissue specificity
MalaCardsⁱ	PTCH1
MIMⁱ	109400, phenotype 601309, gene 605462, phenotype 610828, phenotype
neXtProtⁱ	NX_Q13635
OpenTargetsⁱ	ENSG00000185920
Orphanetⁱ	93925, Alobar holoprosencephaly 377, Gorlin syndrome 93924, Lobar holoprosencephaly 280200, Microform holoprosencephaly 93926, Midline interhemispheric variant of holoprosencephaly 77301, Monosomy 9q22.3 2353, Schilbach-Rott syndrome 220386, Semilobar holoprosencephaly 280195, Septopreoptic holoprosencephaly
PharmGKBⁱ	PA33937
VEuPathDBⁱ	HostDB:ENSG00000185920.15
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1935, Eukaryota
GeneTreeⁱ	ENSGT00940000159011
HOGENOMⁱ	CLU_002506_1_0_1
InParanoidⁱ	Q13635
OMAⁱ	FEYPTQQ
OrthoDBⁱ	1190129at2759
PhylomeDBⁱ	Q13635
TreeFamⁱ	TF106489

Enzyme and pathway databases

PathwayCommonsⁱ	Q13635
Reactomeⁱ	R-HSA-373080, Class B/2 (Secretin family receptors) R-HSA-5610787, Hedgehog 'off' state R-HSA-5632681, Ligand-receptor interactions R-HSA-5632684, Hedgehog 'on' state R-HSA-5635838, Activation of SMO
SignaLinkⁱ	Q13635
SIGNORⁱ	Q13635

Miscellaneous databases

BioGRID-ORCSⁱ	5727, 5 hits in 994 CRISPR screens
ChiTaRSⁱ	PTCH1, human
GeneWikiⁱ	PTCH1
GenomeRNAiⁱ	5727
Pharosⁱ	Q13635, Tbio
Protein Ontology More...PROⁱ	PR:Q13635
RNActⁱ	Q13635, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000185920, Expressed in tibia and 233 other tissues
ExpressionAtlasⁱ	Q13635, baseline and differential
Genevisibleⁱ	Q13635, HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR003392, Ptc/Disp IPR000731, SSD IPR004766, TM_rcpt_patched
Pfamⁱ	View protein in Pfam PF02460, Patched, 2 hits
TIGRFAMsⁱ	TIGR00918, 2A060602, 1 hit
PROSITEⁱ	View protein in PROSITE PS50156, SSD, 1 hit
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	PTC1_HUMAN
Accessionⁱ	Q13635Primary (citable) accession number: Q13635 Secondary accession number(s): A3KBI9 Q86XG7
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
	Last sequence update:	October 23, 2007
	Last modified:	June 2, 2021
	This is version 210 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
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.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Reference proteome

Documents

Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM
Human entries with genetic variants
List of human entries with genetic variants
Human variants curated from literature reports
Index of human variants curated from literature reports
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
SIMILARITY comments
Index of protein domains and families

Annotation systems

Supporting data

UniProtKB - Q13635 (PTC1_HUMAN)

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Protein patched homolog 1

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Plasma membrane

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Plasma Membrane

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Topology

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Genetic variation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

Compositional bias

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Genetic variation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ