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PTCH1 Gene

protein-coding GIFtS: 63

GC09M097246

patched homolog 1 (Drosophila)
(Previous names: patched (Drosophila) homolog, patched homolog (Drosophila) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: NBCCS, PTCH)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
BCNS ^¹, ², ⁵
FLJ26746 ^²
FLJ42602 ^²
HPE7 ^², ⁵
NBCCS ^², ⁵
OTTHUMP00000021709 ^²
OTTHUMP00000021710 ^²
PTC ^², ³
PTC1 ^², ³
PTCH ^², ³
PTCH11 ^²
patched ^²

Descriptions
PTCH protein +12b ^²
PTCH protein +4' ^²
PTCH protein -10 ^²
patched (Drosophila) homolog ^¹
patched homolog (Drosophila) ^¹
patched homolog 1 (Drosophila) ^²

External Ids
HGNC: 9585¹
Entrez Gene: 5727²
UniProtKB: Q13635³
Ensembl: ENSG00000185920⁷

Search outside databases for aliases for PTCH1 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for PTCH1:

This gene encodes a member of the patched gene family. The encoded protein is the receptor for

sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in

tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as

a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome,

esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the

bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript

variants encoding different isoforms. Additional splice variants have been described, but their

full length sequences and biological validity cannot be determined currently. [provided by RefSeq]

UniProtKB/Swiss-Prot: PTC1_HUMAN, Q13635

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

Gene Wiki entry for PTCH1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q22.3 Ensembl cytogenetic band: 9q22.32 HGNC cytogenetic band: 9q22.1-q31

PTCH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M097246: (about GC identifiers)

Start:	97,245,083 bp from pter
End:	97,319,068 bp from pter
Size:	73,986 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000009.10 NT_008470.18

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: PTC1_HUMAN, Q13635 (See protein sequence)

Recommended Name: Protein patched homolog 1

Size: 1447 amino acids; 160545 Da

Subunit: Interacts with SNX17

Subcellular location: Membrane; Multi-pass membrane protein

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

Secondary accessions: Q13463 Q5VZC0

Post-translational modifications:

Glycosylation is necessary for SHH binding (By similarity)¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (7 alternative transcripts):

NP_000255.2 NP_001077071.1 NP_001077072.1 NP_001077073.1 NP_001077074.1 NP_001077075.1 NP_001077076.1

ENSEMBL proteins:

ENSP00000364424 ENSP00000332353 ENSP00000364433 ENSP00000364423 ENSP00000364439 ENSP00000364425

ENSP00000364420

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Patched / PTCH)
	Human Recombinant Proteins from Abnova (PTCH1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005887	integral to plasma membrane	TAS	8981943
GO:0016020	membrane	IEA	--

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Antibodies for PTCH1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for PTCH1
	R&D Systems Antibodies for PTCH1 (Patched)
	Cell Signaling Technology (CST) Antibodies for PTCH1
	Antibodies from Abcam (Patched / PTCH), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (PTCH1)
	Novus Biologicals Antibodies for PTCH1

Assays for PTCH1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry Q13635

ProtoNet protein and cluster: Q13635

1 Blocks protein family: IPB003392 Patched family

UniProtKB/Swiss-Prot: PTC1_HUMAN, Q13635

Similarity: Belongs to the patched family

Similarity: Contains 1 SSD (sterol-sensing) domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (PTCH1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (PTCH1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 7): NM_001083602

Applied Biosystems Silencer® siRNAs for PTCH1

Sigma-Aldrich siRNA and siRNA Panels for PTCH1

Sigma-Aldrich shRNA Panels and shRNA for PTCH1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for PTCH1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 7): NM_000264
Myc/DDK tagged cDNA clones in CMV expression vector (see all 7): NM_000264
untagged cDNA clones in CMV expression vector (see all 7): NM_000264

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000264

UniProtKB/Swiss-Prot: PTC1_HUMAN, Q13635

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

15/24 MGI mutant phenotypes (inferred from 10 alleles) (MGI details for Ptch1) (see all 24 ):

	behavior/neurological	cellular	craniofacial	digestive/alimentary
embryogenesis	endocrine/exocrine gland	growth/size	hematopoietic system	immune system
lethality-prenatal/perinatal	life span-post-weaning/aging	limbs/digits/tail	muscle	nervous system

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	TAS	8906787
GO:0005515	protein binding	ISS	--
GO:0008158	hedgehog receptor activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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5 Sigma-Aldrich "Your Favorite Gene" Pathways for PTCH1 (Your Favorite Gene powered by Ingenuity)

Molecular Mechanisms of Cancer
Sonic Hedgehog Signaling
Corticotropin Releasing Hormone Signaling
Basal Cell Carcinoma Signaling
Axonal Guidance Signaling

GeneDecks PTCH1 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for PTCH1

5/56 Interacting proteins for PTCH1 (ENSP00000332353³) via UniProtKB, MINT, and/or STRING (see all 56 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SHH	ENSP00000297261³	STRING (score=.999)
SMO	ENSP00000249373³	STRING (score=.999)
IHH	ENSP00000295731³	STRING (score=.998)
DHH	ENSP00000266991³	STRING (score=.997)
GLI1	ENSP00000228682³	STRING (score=.996)

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5/9 Gene Ontology (GO) biological process terms (links to tree view) (see all 9 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	TAS	8906787
GO:0008283	cell proliferation	TAS	8681379
GO:0008589	regulation of smoothened signaling pathway	ISS	--
GO:0009887	organ morphogenesis	ISS	--
GO:0009953	dorsal/ventral pattern formation	ISS	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for PTCH1
3 Novoseek chemical compound relationships for PTCH1 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
cyclopamine	92.25	7	17914115 (1), 19047091 (1), 15492281 (1), 17683069 (1) (see all 7)
zinc	0.00	2	9071574 (1), 9186526 (1)
tyrosine	0.00	1	10652431 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (PTCH1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (PTCH1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 7): NM_001083602

Sigma-Aldrich siRNA and siRNA Panels for PTCH1

Sigma-Aldrich shRNA Panels and shRNA for PTCH1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000264 NM_001083602 NM_001083603 NM_001083604 NM_001083605 NM_001083606 NM_001083607

REFSEQ mRNAs for PTCH1 gene (7 alternative transcripts):

NM_000264.3 NM_001083602.1 NM_001083603.1 NM_001083604.1 NM_001083605.1 NM_001083606.1 NM_001083607.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000264 NM_001083602 NM_001083603 NM_001083604 NM_001083605 NM_001083606 NM_001083607

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 7): NM_000264
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 7): NM_000264
                                 untagged cDNA clones in CMV expression vector (see all 7): NM_000264

Additional cDNA sequence:

AB189436.1 AB189437.1 AB189438.1 AB189439.1 AB189440.1 AB212827.1 AB214500.1 AB233422.1

AB233423.1 AB239329.1 AK124593.1 BC043542.1 U43148.1 U59464.1

10 DOTS entries:

DT.444879 DT.101976533 DT.100709393 DT.40113582 DT.91678837 DT.121162869 DT.95322607 DT.121162904

DT.91673750 DT.95265551

24/80 AceView cDNA sequences (see all 80 ):

AW119068 U59464 AI057157 AW304946 AA918336 BI792861 AU129081 AI803420

BI793127 AI494442 AU125183 BC043542 AI733023 AI494319 AK124593 AU134292

BM720425 NM_000264 BE263745 AL046751 BX485755 AK130256 CB216042 AI141170

highest scoring ESTs for PTCH1:

AI494319 AI494442 AI921940 U43148 U59464 AA169807 AA171645 AA825228 AA909101 AI016042

Unigene Cluster for PTCH1:

Patched homolog 1 (Drosophila)

Hs.494538 [show with all ESTs]

Unigene Representative Sequence: NM_001083602

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for PTCH1 (see all 12 )

ExUns:	1	^	2	^	3	^	4	^	5a	·	5b	·	5c	^	6a	·	6b	^	7	^	8a	·	8b	·	8c	^	9a	·	9b	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17a	·	17b	·	17c	^	18a	·
SP1:			-		-				-		-						-												-												-				-
SP2:																													-						-						-				-
SP3:									-		-						-
SP4:																																													-
SP5:			-		-				-								-

ExUns:	18b	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^	26	^	27	^	28
SP1:					-
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for PTCH1

7 Ensembl transcripts including schematic representations:

ENST00000375275 ENST00000331920 ENST00000375284 ENST00000375274 ENST00000375290 ENST00000375276

ENST00000375271

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

PTCH1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for PTCH1

¹ / ² / ³

11 probe-sets matching PTCH1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
38214_at²^{, 3}	U95-A	1	1.00	1.00	0.31	0.80	U59464	0.80	1.00	0.91	1
90226_at²^{, 3}	U95-E	1	1.00	1.00	-0.03	0.60	AL044175	0.60	1.00	0.82	1
836_at²^{, 3}	U95-A	2	1.00	0.94	0.76	1.09	U43148	0.80	1.00	0.91	1
59969_at²^{, 3}	U95-C	2	1.00	0.88	0.57	1.54	AI921940	0.80	1.00	0.91	1
209816_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AL044175	0.60	1.00	0.82	1
208522_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000264	0.60	1.00	0.82	1
209815_at²^{, 3}	U133-A	2	1.00	0.95	--	--	BG054916	0.60	1.00	0.82	1
209816_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
208522_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1555520_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
209815_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--

GeneDecks PTCH1 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CTCAACAAAC

SOURCE GeneReport for Unigene cluster: Hs.494538
UniProtKB/Swiss-Prot: PTC1_HUMAN, Q13635
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

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for PTCH1 gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
cow (Bos taurus)	PTCH1¹	--	patched homolog 1 (Drosophila)	91.24(n) 96.54(a)	520994 XM_599250.3 XP_599250.3
rat (Rattus norvegicus)	Ptch1¹	--	patched homolog 1 (Drosophila)	88.98(n) 96.51(a)	89830 NM_053566.1 NP_446018.1
mouse (Mus musculus)	Ptch1^{1, 5}	13 (36.00 cM)⁵	patched homolog 1^{1, 5}	89.26(n)¹ 96.58(a)¹	19206¹ NM_008957.2¹ NP_032983.1¹ AA080038⁵ AB164615⁵ (see all 24)
chicken (Gallus gallus)	PTCH1¹	--	patched homolog 1 (Drosophila)	78.77(n) 88.8(a)	395806 NM_204960.1 NP_990291.1
zebrafish (Danio rerio)	ptc2²	--	patched2	77.66(n)	30189 AJ007742.1

About this table Species with no ortholog for PTCH1

ENSEMBL Gene Tree for PTCH1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for PTCH1 gene

NPC1² NPC1L1² PTCH2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/441 NCBI SNPs in PTCH1 are shown (see all 441 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 73)

AB	SNP ID	Valid	Chr 9 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs2236405^1,2	C,F,H	97251393(+)	`GGGTGT/AGGGCA`	7	S/T	mis¹ ese³		6		EA EU WA NA	1976
	rs357564^1,2	C,F,H	97249415(+)	`TGTAGG/AGGGGT`	7	L/P	mis¹		9		MN EU EA WA NA	1674
	rs16909865^1,2	C,F,H	97247123(+)	`ATTTAC/GTTAGG`	7	--	ut3¹ ese³		15		NA EU EA WA	1400
	rs16909859^1,2	C,F,H	97244613(+)	`GATTCG/ATGGAC`	7	--	ng5¹		11		NA EU EA WA	976
--	rs3758302^1,2	C,F	97312451(+)	`TCATTG/CAAAAC`	3	--	ng3¹ int¹		1		EA	1490
--	rs28469297^1,2	C	97320609(+)	`AAATTA/CCAGCA`	2	--	ng3¹		0	--	--	--	--
--	rs28705285^1,2	C	97319622(+)	`AGATTG/TGTACC`	2	--	ng3¹		0	--	--	--	--
--	rs2227968^1,2	F	97249514(-)	`GAACCC/TGAGAC`	7	P/L	mis¹ ese³		4		MN NA	220
--	rs357565^1,2	F	97245264(+)	`GTACAC/ATATTT`	7	--	ut3¹		4		EA NA MN	238
--	rs3758301^1,2	C	97312285(+)	`TTCCTC/TGAGAG`	3	--	int¹ ng3¹		0	--	--	--	--

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HapMap Linkage Disequilibrium images for PTCH1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 601309 disorders: 109400 605462 610828

UniProtKB/Swiss-Prot: PTC1_HUMAN, Q13635

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

10/67 Novoseek disease relationships for PTCH1 gene (see all 67 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
nevoid basal cell carcinoma syndrome	97.93	121	18302678 (4), 18272036 (2), 8352281 (2), 11457640 (2) (see all 84)
basal cell carcinoma, multiple	93.12	15	8001963 (1), 7829076 (1), 12175781 (1), 15690381 (1) (see all 13)
keratocysts	91.93	51	15316550 (3), 16931872 (3), 11277394 (3), 12407090 (3) (see all 26)
carcinoma basal cell	91.84	111	11174390 (2), 11340611 (2), 9354420 (2), 15545745 (2) (see all 85)
jaw cysts	88.69	10	15545745 (2), 7829076 (1), 9071574 (1), 11000293 (1) (see all 8)
medulloblastoma	86.40	79	10375116 (7), 18347096 (6), 10874314 (4), 10738305 (4) (see all 38)
lobar holoprosencephaly	70.29	1	17825514 (1)
holoprosencephaly	69.59	6	17001668 (2), 18830227 (2), 17103456 (1)
medulloblastoma desmoplastic	68.04	1	17328283 (1)
odontogenic tumors	67.62	9	16376138 (3), 18502968 (2), 19082818 (2)

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GeneTests: PTCH1

Nevoid Basal Cell Carcinoma Syndrome

Human Gene Mutation Database: PTCH1
Human Genome Epidemiology Navigator: PTCH1 (13 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/334 PubMed articles for PTCH1 gene (see all 334 ):

Human homolog of patched, a candidate gene for the basal cell nevus syndrome. (PubMed id 8658145)^{1, 2, 3, 4} Johnson R.L....Scott M.P. (1996)
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. (PubMed id 11941477)^{1, 3, 4} Ming J.E.... Muenke M. (2002)
Identification of PATCHED mutations in medulloblastomas by direct sequencing. (PubMed id 10874314)^{1, 3, 4} Dong J.... Bale A.E. (2000)
Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. (PubMed id 15459969)^{1, 3, 4} Savino M.... Savoia A. (2004)
PTCH mutations in squamous cell carcinoma of the skin. (PubMed id 11286632)^{1, 3, 4} Ping X.L.... Tsou H.C. (2001)
Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer. (PubMed id 11231326)^{1, 3, 4} Reifenberger J.... Hauschild A. (2001)
Functions of sorting nexin 17 domains and recognition motif for P-selectin trafficking. (PubMed id 15769472)^{3, 4} Knauth P....Bohnensack R. (2005)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{3, 4} Humphray S.J.... Dunham I. (2004)
Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. (PubMed id 9620294)^{3, 4} Aszterbaum M.... Epstein E.H. Jr. (1998)
Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. (PubMed id 10200051)^{3, 4} Hasenpusch-Theil K.... Frischauf A.-M. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 5727	HGNC: 9585	AceView: PTCH	Ensembl:ENSG00000185920	euGenes: HUgn5727
ECgene: PTCH1	H-InvDB: PTCH1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for PTCH1	Genetics and Cytogenetics in Oncology and Haematology
PTCH1 mutation database	http://www.cybergene.se/PTCH/ptchbase.html
GeneReviews	http://www.genetests.org/query?gene=PTCH1

Licensable Technologies for PTCH1
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for PTCH1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for PTCH1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for PTCH1		Antibodies for PTCH1
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	Lentivirus-delivered shRNAs for PTCH1		Browse small molecules at Sigma-Aldrich
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	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (PTCH1)
	Antibodies (PTCH1)
	Chimera RNAi (PTCH1)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for PTCH1

	Recombinant Proteins (Patched / PTCH)
	Antibodies (Patched / PTCH)

Search OriGene for PTCH1

Search Tocris compounds for PTCH1

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for PTCH1

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PTCH1 Gene

protein-coding GIFtS: 63

Aliases &
Descriptions
for PTCH1

Summaries
for PTCH1

Genomic Location
for PTCH1

Proteins
for PTCH1

Protein Domains/
Families
for PTCH1

Gene Function
for PTCH1

Pathways & Interactions
for PTCH1

Drugs & Compounds
for PTCH1

Transcripts
for PTCH1

Expression
for PTCH1

Orthologs
for PTCH1

Paralogs
for PTCH1

SNPs/Variants
for PTCH1

Disorders & Mutations
for PTCH1

Medical News
for PTCH1

Publications
for PTCH1

Search for PTCH1

Genome Databases showing PTCH1

Other Databases showing PTCH1

Specialized Databases showing PTCH1

Licensable Technologies
for PTCH1

Services
for PTCH1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

PTCH1 Gene

protein-coding GIFtS: 63

Aliases & Descriptionsfor PTCH1

Summariesfor PTCH1

Genomic Locationfor PTCH1

Proteinsfor PTCH1

Protein Domains/Familiesfor PTCH1

Gene Functionfor PTCH1

Pathways & Interactionsfor PTCH1

Drugs & Compoundsfor PTCH1

Transcriptsfor PTCH1

Expression for PTCH1

Orthologsfor PTCH1

Paralogsfor PTCH1

SNPs/Variantsfor PTCH1

Disorders & Mutationsfor PTCH1

Medical Newsfor PTCH1

Publicationsfor PTCH1

Search for PTCH1

Genome Databases showing PTCH1

Other Databases showing PTCH1

Specialized Databases showing PTCH1

Licensable Technologiesfor PTCH1

Servicesfor PTCH1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for PTCH1

Summaries
for PTCH1

Genomic Location
for PTCH1

Proteins
for PTCH1

Protein Domains/
Families
for PTCH1

Gene Function
for PTCH1

Pathways & Interactions
for PTCH1

Drugs & Compounds
for PTCH1

Transcripts
for PTCH1

Expression
for PTCH1

Orthologs
for PTCH1

Paralogs
for PTCH1

SNPs/Variants
for PTCH1

Disorders & Mutations
for PTCH1

Medical News
for PTCH1

Publications
for PTCH1

Licensable Technologies
for PTCH1

Services
for PTCH1