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Reviewed, UniProtKB/Swiss-Prot Q13635 (PTC1_HUMAN)

Last modified November 25, 2008. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Protein patched homolog 1
      Short name=PTC1
      Short name=PTC
Gene names
Name: PTCH1
Synonyms: PTCH
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length1447 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Function

Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis.

Subunit structure

Interacts with SNX17.

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

In the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas and kidney. Expressed in tumor cells but not in normal skin.

Developmental stage

In the embryo, found in all major target tissues of sonic hedgehog, such as the ventral neural tube, somites, and tissues surrounding the zone of polarizing activity of the limb bud.

Post-translational modification

Glycosylation is necessary for SHH binding By similarity.

Involvement in disease

Defects in PTCH1 are probably the cause of basal cell nevus syndrome (BCNS) [MIM:109400]; also known as Gorlin syndrome or Gorlin-Goltz syndrome. BCNS is an autosomal dominant disease characterized by nevoid basal cell carcinomas (NBCCS) and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas (BCC), fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. PTCH1 is also mutated in squamous cell carcinoma (SCC). Could also be associated with large body size observed in BCNS patients.

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.

Sequence similarities

Belongs to the patched family.

Contains 1 SSD (sterol-sensing) domain.

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 14471447Protein patched homolog 1
PRO_0000205964

Regions

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

Natural variant1751L → P in BCNS; sporadic BCC.
VAR_007843
Natural variant2301T → P in BCNS.
VAR_020845
Natural variant3761F → S in BCNS.
VAR_007844
Natural variant3931A → T in HPE7.
VAR_032952
Natural variant4431A → G in HPE7.
VAR_032953
Natural variant505 – 5062FL → LR in BCNS.
VAR_020846
Natural variant5091G → R in BCNS; could be a rare polymorphism.
VAR_010974
Natural variant5091G → V in BCNS.
VAR_010975
Natural variant5131D → Y in BCNS.
VAR_010976
Natural variant7281T → M in HPE7.
VAR_032954
Natural variant7511V → G in HPE7.
VAR_032955
Natural variant8151I → IPNI in BCNS.
VAR_007845
Natural variant8161Missing in BCNS.
VAR_010977
Natural variant8271S → G in HPE7.
VAR_032956
Natural variant8291V → M in squamous cell carcinoma.
VAR_010978
Natural variant9081V → G in HPE7.
VAR_032957
Natural variant10521T → M in HPE7.
VAR_032958
Natural variant10691G → R in BCNS.
VAR_010979
Natural variant10831V → VV in BCNS.
VAR_007846
Natural variant11141R → W in BCNS and BCC.
VAR_007847
Natural variant11321S → P in BCNS.
VAR_010980
Natural variant11321S → Y in BCNS.
VAR_010981
Natural variant11951T → S: dbSNP rs2236405.
VAR_020440
Natural variant12421E → K in squamous cell carcinoma.
VAR_010982
Natural variant12821P → L: dbSNP rs16909873.
VAR_020847
Natural variant13151P → L: dbSNP rs357564.
VAR_010983
Natural variant14381E → D in BCNS; sporadic NBCCS.
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

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Sequences

Sequence LengthMass (Da)Tools
Q13635-1 [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

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References

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[1]"Human homolog of patched, a candidate gene for the basal cell nevus syndrome."
Johnson R.L., Rothman A.L., Xie J., Goodrich L.V., Bare J.W., Bonifas J.M., Quinn A.G., Myers R.M., Cox D.R., Epstein E.H. Jr., Scott M.P.
Science 272:1668-1671(1996) [PubMed: 8658145] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS BCC PRO-175; PRO-ASN-ILE-815 INS AND LEU-1315.
Tissue: Lung.
[2]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. 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.,