UniProtKB - Q13635 (PTC1_HUMAN)
Protein
Protein patched homolog 1
Gene
PTCH1
Organism
Homo sapiens (Human)
Status
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
- cyclin binding Source: BHF-UCL
- hedgehog family protein binding Source: BHF-UCL
- hedgehog receptor activity Source: GO_Central
- heparin binding Source: Ensembl
- patched binding Source: Ensembl
- protein-containing complex binding Source: Ensembl
- smoothened binding Source: BHF-UCL
GO - Biological processi
- animal organ morphogenesis Source: UniProtKB
- brain development Source: BHF-UCL
- branching involved in ureteric bud morphogenesis Source: Ensembl
- cell differentiation involved in kidney development Source: Ensembl
- cell fate determination Source: Ensembl
- cell proliferation involved in metanephros development Source: Ensembl
- cellular response to cholesterol Source: BHF-UCL
- commissural neuron axon guidance Source: Ensembl
- dorsal/ventral pattern formation Source: UniProtKB
- embryonic limb morphogenesis Source: UniProtKB
- embryonic organ development Source: Ensembl
- epidermal cell fate specification Source: Ensembl
- glucose homeostasis Source: Ensembl
- heart morphogenesis Source: Ensembl
- hindlimb morphogenesis Source: Ensembl
- in utero embryonic development Source: Ensembl
- keratinocyte proliferation Source: Ensembl
- limb morphogenesis Source: BHF-UCL
- liver regeneration Source: Ensembl
- mammary gland duct morphogenesis Source: Ensembl
- mammary gland epithelial cell differentiation Source: Ensembl
- metanephric collecting duct development Source: UniProtKB
- negative regulation of cell division Source: Ensembl
- negative regulation of DNA-binding transcription factor activity Source: BHF-UCL
- negative regulation of epithelial cell proliferation Source: Ensembl
- negative regulation of multicellular organism growth Source: UniProtKB
- negative regulation of osteoblast differentiation Source: BHF-UCL
- negative regulation of smoothened signaling pathway Source: BHF-UCL
- negative regulation of transcription by RNA polymerase II Source: BHF-UCL
- neural plate axis specification Source: BHF-UCL
- neural tube closure Source: Ensembl
- neural tube patterning Source: BHF-UCL
- pharyngeal system development Source: BHF-UCL
- positive regulation of cholesterol efflux Source: BHF-UCL
- positive regulation of epidermal cell differentiation Source: Ensembl
- positive regulation of transcription, DNA-templated Source: Ensembl
- prostate gland development Source: Ensembl
- protein localization to plasma membrane Source: BHF-UCL
- protein processing Source: UniProtKB
- regulation of mitotic cell cycle Source: Ensembl
- regulation of protein localization Source: Ensembl
- regulation of smoothened signaling pathway Source: UniProtKB
- response to chlorate Source: Ensembl
- response to drug Source: Ensembl
- response to estradiol Source: Ensembl
- response to mechanical stimulus Source: Ensembl
- response to retinoic acid Source: Ensembl
- smoothened signaling pathway Source: UniProtKB
- smoothened signaling pathway involved in dorsal/ventral neural tube patterning Source: Ensembl
- smooth muscle tissue development Source: UniProtKB
- somite development Source: BHF-UCL
- spinal cord motor neuron differentiation Source: Ensembl
Keywordsi
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 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein patched homolog 1Short name: PTC Short name: PTC1 |
Gene namesi | Name:PTCH1 Synonyms:PTCH |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000185920.15 |
HGNCi | HGNC:9585, PTCH1 |
MIMi | 601309, gene |
neXtProti | NX_Q13635 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; Multi-pass membrane protein Sequence analysis
Nucleus
- nucleus Source: Ensembl
Plasma Membrane
- caveola Source: BHF-UCL
- ciliary membrane Source: Reactome
- plasma membrane Source: BHF-UCL
Other locations
- apical part of cell Source: UniProtKB
- axonal growth cone Source: Ensembl
- dendritic growth cone Source: Ensembl
- endocytic vesicle membrane Source: Reactome
- integral component of membrane Source: UniProtKB-KW
- intracellular membrane-bounded organelle Source: BHF-UCL
- midbody Source: Ensembl
- perinuclear region of cytoplasm Source: BHF-UCL
- postsynaptic density Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | 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, MembranePathology & Biotechi
Involvement in diseasei
Basal cell nevus syndrome (BCNS)5 Publications
The disease may be caused by mutations 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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | 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 mutations 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 OMIMFeature 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 mutations 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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | 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 mutation, Holoprosencephaly, Tumor suppressorOrganism-specific databases
DisGeNETi | 5727 |
GeneReviewsi | PTCH1 |
MalaCardsi | PTCH1 |
MIMi | 109400, phenotype 605462, phenotype 610828, phenotype |
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 |
Polymorphism and mutation 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 | Graphical view | 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 conjugationProteomic 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] |
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 232 other tissues |
ExpressionAtlasi | Q13635, baseline and differential |
Genevisiblei | Q13635, HS |
Organism-specific databases
HPAi | ENSG00000185920, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsQ13635
Isoform L [Q13635-1]
With | #Exp. | IntAct |
---|---|---|
SHH [Q15465] | 4 | EBI-13635488,EBI-11666886 |
Isoform M [Q13635-3]
GO - Molecular functioni
- cyclin binding Source: BHF-UCL
- hedgehog family protein binding Source: BHF-UCL
- patched binding Source: Ensembl
- smoothened binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 111699, 205 interactors |
CORUMi | Q13635 |
DIPi | DIP-44940N |
IntActi | Q13635, 77 interactors |
MINTi | Q13635 |
STRINGi | 9606.ENSP00000332353 |
Miscellaneous databases
RNActi | Q13635, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D 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 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 14 – 31 | Gly-richAdd BLAST | 18 |
Sequence similaritiesi
Belongs to the patched family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1935, Eukaryota |
GeneTreei | ENSGT00940000159011 |
HOGENOMi | CLU_002506_1_0_1 |
InParanoidi | Q13635 |
OMAi | FEYPTQQ |
OrthoDBi | 1190129at2759 |
PhylomeDBi | Q13635 |
TreeFami | TF106489 |
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 |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
Isoform L (identifier: Q13635-1) [UniParc]FASTAAdd to basket
Also known as: 1B
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Isoform L' (identifier: Q13635-2) [UniParc]FASTAAdd to basket
Also known as: 1Ckid
The sequence of this isoform differs from the canonical sequence as follows:
1-66: MASAGNAAEP...DAAFALEQIS → MELLNRNRLV...DRGDKETRSD
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0Y3B8 | H0Y3B8_HUMAN | Protein patched homolog 1 | PTCH1 | 352 | Annotation score: | ||
H3BLX7 | H3BLX7_HUMAN | Protein patched homolog 1 | PTCH1 | 486 | Annotation score: | ||
F8VXL8 | F8VXL8_HUMAN | Protein patched homolog 1 | PTCH1 | 66 | Annotation score: | ||
F8VQS6 | F8VQS6_HUMAN | Protein patched homolog 1 | PTCH1 | 92 | Annotation score: | ||
F8VPA3 | F8VPA3_HUMAN | Protein patched homolog 1 | PTCH1 | 79 | Annotation score: | ||
A0A0C4DGJ5 | A0A0C4DGJ5_HUMAN | Protein patched homolog 1 | PTCH1 | 183 | Annotation score: | ||
H0YHK0 | H0YHK0_HUMAN | Protein patched homolog 1 | PTCH1 | 16 | Annotation score: | ||
A0A0C4DGI4 | A0A0C4DGI4_HUMAN | Protein patched homolog 1 | PTCH1 | 174 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | 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 | Graphical view | 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 | Graphical view | 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 |
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] |
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] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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: PDBei RCSB PDBi 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, 77 interactors |
MINTi | Q13635 |
STRINGi | 9606.ENSP00000332353 |
Protein family/group databases
TCDBi | 2.A.6.6.13, the resistance-nodulation-cell division (rnd) superfamily |
PTM databases
GlyGeni | Q13635, 8 sites |
iPTMneti | Q13635 |
PhosphoSitePlusi | Q13635 |
Polymorphism and mutation 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, 665 antibodies |
DNASUi | 5727 |
Genome annotation databases
Organism-specific databases
CTDi | 5727 |
DisGeNETi | 5727 |
EuPathDBi | HostDB:ENSG00000185920.15 |
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 |
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, 4 hits in 844 CRISPR screens |
ChiTaRSi | PTCH1, human |
GeneWikii | PTCH1 |
GenomeRNAii | 5727 |
Pharosi | Q13635, Tbio |
PROi | PR:Q13635 |
RNActi | Q13635, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000185920, Expressed in tibia and 232 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 |
ProtoNeti | Search... |
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: | December 2, 2020 | |
This is version 207 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 proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - 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 - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations