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Q13635 (PTC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 145. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein patched homolog 1

Short name=PTC
Short name=PTC1
Gene names
Name:PTCH1
Synonyms:PTCH
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1447 AA.
Sequence statusComplete.
Protein existenceEvidence 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. Ref.8

Subunit structure

Interacts with SNX17. Interacts with IHH. Ref.7 Ref.8

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

Basal cell nevus syndrome (BCNS) [MIM:109400]: An 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.
Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10 Ref.13 Ref.15 Ref.19

Basal cell carcinoma (BCC) [MIM:605462]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.13

Holoprosencephaly 7 (HPE7) [MIM:610828]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17 Ref.20 Ref.21

Sequence similarities

Belongs to the patched family.

Contains 1 SSD (sterol-sensing) domain.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Holoprosencephaly
Tumor suppressor
   DomainTransmembrane
Transmembrane helix
   Molecular functionReceptor
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbrain development

Inferred from sequence or structural similarity. Source: BHF-UCL

branching involved in ureteric bud morphogenesis

Inferred from electronic annotation. Source: Ensembl

cell differentiation involved in kidney development

Inferred from electronic annotation. Source: Ensembl

cell proliferation involved in metanephros development

Inferred from electronic annotation. Source: Ensembl

cellular response to cholesterol

Inferred from mutant phenotype PubMed 11278759. Source: BHF-UCL

dorsal/ventral pattern formation

Inferred from sequence or structural similarity. Source: UniProtKB

embryonic limb morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

epidermis development

Inferred from electronic annotation. Source: Ensembl

glucose homeostasis

Inferred from electronic annotation. Source: Ensembl

heart morphogenesis

Inferred from electronic annotation. Source: Ensembl

hindlimb morphogenesis

Inferred from electronic annotation. Source: Ensembl

keratinocyte proliferation

Inferred from electronic annotation. Source: Ensembl

limb morphogenesis

Inferred from mutant phenotype PubMed 8681379. Source: BHF-UCL

mammary gland duct morphogenesis

Inferred from electronic annotation. Source: Ensembl

mammary gland epithelial cell differentiation

Inferred from electronic annotation. Source: Ensembl

negative regulation of cell division

Inferred from electronic annotation. Source: Ensembl

negative regulation of epithelial cell proliferation

Inferred from electronic annotation. Source: Ensembl

negative regulation of multicellular organism growth

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of osteoblast differentiation

Inferred from mutant phenotype PubMed 16229683. Source: BHF-UCL

negative regulation of sequence-specific DNA binding transcription factor activity

Inferred from mutant phenotype PubMed 16229683. Source: BHF-UCL

negative regulation of smoothened signaling pathway

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of transcription from RNA polymerase II promoter

Inferred from mutant phenotype PubMed 16229683. Source: BHF-UCL

neural plate axis specification

Inferred from sequence or structural similarity. Source: BHF-UCL

neural tube closure

Inferred from electronic annotation. Source: Ensembl

neural tube patterning

Inferred from mutant phenotype PubMed 8681379. Source: BHF-UCL

organ morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

pharyngeal system development

Inferred from mutant phenotype PubMed 8681379Ref.10. Source: BHF-UCL

positive regulation of cholesterol efflux

Inferred from direct assay PubMed 21931618. Source: BHF-UCL

protein processing

Inferred from sequence or structural similarity. Source: UniProtKB

protein targeting to plasma membrane

Inferred from direct assay PubMed 11278759. Source: BHF-UCL

regulation of mitotic cell cycle

Inferred from electronic annotation. Source: Ensembl

regulation of protein localization

Inferred from electronic annotation. Source: Ensembl

regulation of smoothened signaling pathway

Inferred from sequence or structural similarity. Source: UniProtKB

renal system development

Inferred from expression pattern PubMed 17850284. Source: UniProtKB

response to chlorate

Inferred from electronic annotation. Source: Ensembl

response to drug

Inferred from electronic annotation. Source: Ensembl

response to estradiol

Inferred from electronic annotation. Source: Ensembl

response to mechanical stimulus

Inferred from electronic annotation. Source: Ensembl

response to retinoic acid

Inferred from electronic annotation. Source: Ensembl

smoothened signaling pathway

Inferred from expression pattern PubMed 17850284. Source: UniProtKB

smoothened signaling pathway involved in dorsal/ventral neural tube patterning

Inferred from electronic annotation. Source: Ensembl

somite development

Inferred from mutant phenotype PubMed 8681379. Source: BHF-UCL

spinal cord motor neuron differentiation

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentaxonal growth cone

Inferred from electronic annotation. Source: Ensembl

caveola

Inferred from direct assay PubMed 11278759. Source: BHF-UCL

dendritic growth cone

Inferred from electronic annotation. Source: Ensembl

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

intracellular membrane-bounded organelle

Inferred from direct assay PubMed 11278759. Source: BHF-UCL

midbody

Inferred from electronic annotation. Source: Ensembl

perinuclear region of cytoplasm

Inferred from direct assay PubMed 11278759. Source: BHF-UCL

plasma membrane

Inferred from direct assay PubMed 11278759PubMed 12635140. Source: BHF-UCL

postsynaptic density

Inferred from electronic annotation. Source: Ensembl

primary cilium

Inferred from electronic annotation. Source: Ensembl

   Molecular_functioncholesterol binding

Inferred from direct assay PubMed 21931618. Source: BHF-UCL

cyclin binding

Inferred from physical interaction PubMed 11331587. Source: BHF-UCL

hedgehog family protein binding

Inferred from physical interaction PubMed 9811851. Source: BHF-UCL

hedgehog receptor activity

Inferred from electronic annotation. Source: InterPro

heparin binding

Inferred from electronic annotation. Source: Ensembl

smoothened binding

Inferred from physical interaction PubMed 11278759PubMed 9811851. Source: BHF-UCL

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform L (identifier: Q13635-1)

Also known as: 1B;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform L' (identifier: Q13635-2)

Also known as: 1Ckid;

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: MASAGNAAEP...DAAFALEQIS → MELLNRNRLV...DRGDKETRSD
Isoform M (identifier: Q13635-3)

Also known as: 1C;

The sequence of this isoform differs from the canonical sequence as follows:
     2-67: Missing.
Isoform S (identifier: Q13635-4)

Also known as: 1A; 1CdeltaE2;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 14471447Protein patched homolog 1
PRO_0000205964

Regions

Topological domain1 – 100100Cytoplasmic Potential
Transmembrane101 – 12121Helical; Potential
Topological domain122 – 436315Extracellular Potential
Transmembrane437 – 45721Helical; Potential
Topological domain458 – 47215Cytoplasmic Potential
Transmembrane473 – 49321Helical; Potential
Topological domain494 – 5018Extracellular Potential
Transmembrane502 – 52221Helical; Potential
Topological domain523 – 54725Cytoplasmic Potential
Transmembrane548 – 56821Helical; Potential
Topological domain569 – 5779Extracellular Potential
Transmembrane578 – 59821Helical; Potential
Topological domain599 – 748150Cytoplasmic Potential
Transmembrane749 – 76921Helical; Potential
Topological domain770 – 1027258Extracellular Potential
Transmembrane1028 – 104821Helical; Potential
Topological domain1049 – 10557Cytoplasmic Potential
Transmembrane1056 – 107621Helical; Potential
Topological domain1077 – 10837Extracellular Potential
Transmembrane1084 – 110421Helical; Potential
Topological domain1105 – 112117Cytoplasmic Potential
Transmembrane1122 – 114120Helical; Potential
Topological domain1142 – 115413Extracellular Potential
Transmembrane1155 – 117521Helical; Potential
Topological domain1176 – 1447272Cytoplasmic Potential
Domain438 – 598161SSD
Compositional bias14 – 3118Gly-rich

Amino acid modifications

Glycosylation1411N-linked (GlcNAc...) Potential
Glycosylation3121N-linked (GlcNAc...) Potential
Glycosylation3491N-linked (GlcNAc...) Potential
Glycosylation4141N-linked (GlcNAc...) Potential
Glycosylation8751N-linked (GlcNAc...) Potential
Glycosylation10001N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 6666MASAG…LEQIS → MELLNRNRLVIVSPRCTPPK ASGGPARRGFYTFRSFCKDG GGGEEEEENGGEEKDDRGDK ETRSD in isoform L'.
VSP_041369
Alternative sequence2 – 152151Missing in isoform S.
VSP_041370
Alternative sequence2 – 6766Missing in isoform M.
VSP_041371
Natural variant1751L → P in BCNS; sporadic BCC. Ref.1
VAR_007843
Natural variant2301T → P in BCNS. Ref.19
VAR_020845
Natural variant3761F → S in BCNS. Ref.13
VAR_007844
Natural variant3931A → T in HPE7. Ref.17
VAR_032952
Natural variant4431A → G in HPE7. Ref.21
VAR_032953
Natural variant505 – 5062FL → LR in BCNS.
VAR_020846
Natural variant5091G → R in BCNS; unknown pathological significance. Ref.9
VAR_010974
Natural variant5091G → V in BCNS. Ref.9
VAR_010975
Natural variant5131D → Y in BCNS. Ref.10
VAR_010976
Natural variant7281T → M in HPE7. Ref.17 Ref.20
Corresponds to variant rs28936404 [ dbSNP | Ensembl ].
VAR_032954
Natural variant7511V → G in HPE7. Ref.21
VAR_032955
Natural variant8151I → IPNI in BCNS.
VAR_007845
Natural variant8161Missing in BCNS. Ref.9
VAR_010977
Natural variant8271S → G in HPE7. Ref.17
Corresponds to variant rs199476092 [ dbSNP | Ensembl ].
VAR_032956
Natural variant8291V → M in squamous cell carcinoma. Ref.16
VAR_010978
Natural variant9081V → G in HPE7. Ref.21
VAR_032957
Natural variant10521T → M in HPE7. Ref.17 Ref.21
Corresponds to variant rs28936405 [ dbSNP | Ensembl ].
VAR_032958
Natural variant10691G → R in BCNS. Ref.10
VAR_010979
Natural variant10831V → VV in BCNS. Ref.13
VAR_007846
Natural variant11141R → W in BCNS and BCC. Ref.13
VAR_007847
Natural variant11321S → P in BCNS. Ref.15
VAR_010980
Natural variant11321S → Y in BCNS. Ref.9
VAR_010981
Natural variant11951T → S.
Corresponds to variant rs2236405 [ dbSNP | Ensembl ].
VAR_020440
Natural variant12421E → K in squamous cell carcinoma. Ref.16
VAR_010982
Natural variant12821P → L.
Corresponds to variant rs2227968 [ dbSNP | Ensembl ].
VAR_020847
Natural variant13151P → L. Ref.1 Ref.2 Ref.12 Ref.14
Corresponds to variant rs357564 [ dbSNP | Ensembl ].
VAR_010983
Natural variant14381E → D in BCNS; sporadic NBCCS. Ref.11
VAR_010984

Experimental info

Sequence conflict11091G → S in AAC50496. Ref.2
Sequence conflict11441E → D in AAC50496. Ref.2
Sequence conflict11751L → W in AAC50496. Ref.2
Sequence conflict12831R → K in AAC50496. Ref.2
Sequence conflict13091E → K in AAC50496. Ref.2
Sequence conflict13531A → T in AAC50496. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform L (1B) [UniParc].

Last modified October 23, 2007. Version 2.
Checksum: F2937247BC812F85

FASTA1,447160,545
        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 

« Hide

Isoform L' (1Ckid) [UniParc].

Checksum: E6AE7954E04633D1
Show »

FASTA1,446161,038
Isoform M (1C) [UniParc].

Checksum: F37D7805A3C69472
Show »

FASTA1,381153,853
Isoform S (1A) (1CdeltaE2) [UniParc].

Checksum: 66CA1F5AE1BDCE61
Show »

FASTA1,296144,356

References

« Hide '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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM L), VARIANTS BCC PRO-175; PRO-ASN-ILE-815 INS AND LEU-1315.
Tissue: Lung.
[2]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM S), VARIANT LEU-1315.
Tissue: Fetal brain.
[3]"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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"Identification and characterization of multiple isoforms of a murine and human tumor suppressor, patched, having distinct first exons."
Nagao K., Toyoda M., Takeuchi-Inoue K., Fujii K., Yamada M., Miyashita T.
Genomics 85:462-471(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-324 (ISOFORM L'), NUCLEOTIDE SEQUENCE [MRNA] OF 1-259 (ISOFORM M), NUCLEOTIDE SEQUENCE [MRNA] OF 1-174 (ISOFORM S), ALTERNATIVE SPLICING.
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-183 (ISOFORM M).
Tissue: Brain.
[6]"Distinct roles of first exon variants of the tumor-suppressor Patched1 in Hedgehog signaling."
Shimokawa T., Svard J., Heby-Henricson K., Teglund S., Toftgard R., Zaphiropoulos P.G.
Oncogene 26:4889-4896(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-90 (ISOFORM S), ALTERNATIVE SPLICING.
[7]"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] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH SNX17.
[8]"Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels."
Ma G., Yu J., Xiao Y., Chan D., Gao B., Hu J., He Y., Guo S., Zhou J., Zhang L., Gao L., Zhang W., Kang Y., Cheah K.S., Feng G., Guo X., Wang Y., Zhou C.Z., He L.
Cell Res. 21:1343-1357(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH IHH.
[9]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS BCNS ARG-509; VAL-509; GLN-816 DEL AND TYR-1132.
[10]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS BCNS TYR-513 AND ARG-1069.
[11]"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] [Europe PMC] [Abstract]
Cited for: VARIANT NBCCS ASP-1438.
[12]"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] [Europe PMC] [Abstract]
Cited for: VARIANT LEU-1315.
[13]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS BCNS SER-376 AND VAL-1083 INS, VARIANT BCC TRP-1114.
[14]"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] [Europe PMC] [Abstract]
Cited for: VARIANT LEU-1315.
[15]"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] [Europe PMC] [Abstract]
Cited for: VARIANT BCNS PRO-1132.
[16]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS SQUAMOUS CELL CARCINOMA MET-829 AND LYS-1242.
[17]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS HPE7 THR-393; MET-728; GLY-827 AND MET-1052.
[18]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)
[19]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS BCNS PRO-230 AND 505-LEU-ARG-506.
[20]"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] [Europe PMC] [Abstract]
Cited for: VARIANT HPE7 MET-728.
[21]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS HPE7 GLY-443; GLY-751; GLY-908 AND MET-1052.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U59464 mRNA. Translation: AAC50550.1.
U43148 mRNA. Translation: AAC50496.1.
AL161729 Genomic DNA. Translation: CAH73817.1.
AL161729 Genomic DNA. Translation: CAH73818.1.
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.
RefSeqNP_000255.2. NM_000264.3.
NP_001077071.1. NM_001083602.1.
NP_001077072.1. NM_001083603.1.
NP_001077073.1. NM_001083604.1.
NP_001077074.1. NM_001083605.1.
NP_001077075.1. NM_001083606.1.
NP_001077076.1. NM_001083607.1.
XP_005252159.1. XM_005252102.1.
UniGeneHs.494538.

3D structure databases

ProteinModelPortalQ13635.
SMRQ13635. Positions 988-1180.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111699. 4 interactions.
DIPDIP-44940N.
IntActQ13635. 2 interactions.
MINTMINT-1543380.
STRING9606.ENSP00000332353.

PTM databases

PhosphoSiteQ13635.

Polymorphism databases

DMDM160415977.

Proteomic databases

PaxDbQ13635.
PRIDEQ13635.

Protocols and materials databases

DNASU5727.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000331920; 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]
ENST00000468211; ENSP00000449745; ENSG00000185920.
ENST00000546820; ENSP00000448843; ENSG00000185920.
ENST00000547672; ENSP00000447878; ENSG00000185920.
ENST00000551845; ENSP00000447008; ENSG00000185920.
ENST00000553011; ENSP00000447797; ENSG00000185920.
GeneID5727.
KEGGhsa:5727.
UCSCuc004avk.4. human. [Q13635-1]
uc004avm.4. human. [Q13635-2]
uc010mrr.3. human. [Q13635-3]

Organism-specific databases

CTD5727.
GeneCardsGC09M098205.
HGNCHGNC:9585. PTCH1.
HPACAB013717.
MIM109400. phenotype.
601309. gene.
605462. phenotype.
610828. phenotype.
neXtProtNX_Q13635.
Orphanet93925. Alobar holoprosencephaly.
377. Gorlin syndrome.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
77301. Monosomy 9q22.3.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
PharmGKBPA33937.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG313603.
HOVERGENHBG003801.
InParanoidQ13635.
KOK06225.
OMAPDRDYLH.
OrthoDBEOG7HMS06.
PhylomeDBQ13635.
TreeFamTF106489.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
SignaLinkQ13635.

Gene expression databases

ArrayExpressQ13635.
BgeeQ13635.
CleanExHS_PTCH1.
GenevestigatorQ13635.

Family and domain databases

InterProIPR003392. Patched.
IPR000731. SSD.
IPR004766. TM_rcpt_patched.
[Graphical view]
PfamPF02460. Patched. 1 hit.
[Graphical view]
TIGRFAMsTIGR00918. 2A060602. 1 hit.
PROSITEPS50156. SSD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPTCH1. human.
GeneWikiPTCH1.
GenomeRNAi5727.
NextBio22266.
PROQ13635.
SOURCESearch...

Entry information

Entry namePTC1_HUMAN
AccessionPrimary (citable) accession number: Q13635
Secondary accession number(s): A3KBI9 expand/collapse secondary AC list , E9PEJ8, Q13463, Q5R1U7, Q5R1U9, Q5R1V0, Q5VZC0, Q5VZC2, Q86XG7
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: October 23, 2007
Last modified: April 16, 2014
This is version 145 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM