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Q13635

- PTC1_HUMAN

UniProt

Q13635 - PTC1_HUMAN

Protein

Protein patched homolog 1

Gene

PTCH1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 150 (01 Oct 2014)
      Sequence version 2 (23 Oct 2007)
      Previous versions | rss
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    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

    1. cholesterol binding Source: BHF-UCL
    2. cyclin binding Source: BHF-UCL
    3. hedgehog family protein binding Source: BHF-UCL
    4. hedgehog receptor activity Source: InterPro
    5. heparin binding Source: Ensembl
    6. protein binding Source: UniProtKB
    7. smoothened binding Source: BHF-UCL

    GO - Biological processi

    1. brain development Source: BHF-UCL
    2. branching involved in ureteric bud morphogenesis Source: Ensembl
    3. cell differentiation involved in kidney development Source: Ensembl
    4. cell proliferation involved in metanephros development Source: Ensembl
    5. cellular response to cholesterol Source: BHF-UCL
    6. dorsal/ventral pattern formation Source: UniProtKB
    7. embryonic limb morphogenesis Source: UniProtKB
    8. epidermis development Source: Ensembl
    9. glucose homeostasis Source: Ensembl
    10. heart morphogenesis Source: Ensembl
    11. hindlimb morphogenesis Source: Ensembl
    12. keratinocyte proliferation Source: Ensembl
    13. limb morphogenesis Source: BHF-UCL
    14. mammary gland duct morphogenesis Source: Ensembl
    15. mammary gland epithelial cell differentiation Source: Ensembl
    16. negative regulation of cell division Source: Ensembl
    17. negative regulation of epithelial cell proliferation Source: Ensembl
    18. negative regulation of multicellular organism growth Source: UniProtKB
    19. negative regulation of osteoblast differentiation Source: BHF-UCL
    20. negative regulation of sequence-specific DNA binding transcription factor activity Source: BHF-UCL
    21. negative regulation of smoothened signaling pathway Source: BHF-UCL
    22. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    23. neural plate axis specification Source: BHF-UCL
    24. neural tube closure Source: Ensembl
    25. neural tube patterning Source: BHF-UCL
    26. organ morphogenesis Source: UniProtKB
    27. pharyngeal system development Source: BHF-UCL
    28. positive regulation of cholesterol efflux Source: BHF-UCL
    29. protein processing Source: UniProtKB
    30. protein targeting to plasma membrane Source: BHF-UCL
    31. regulation of mitotic cell cycle Source: Ensembl
    32. regulation of protein localization Source: Ensembl
    33. regulation of smoothened signaling pathway Source: UniProtKB
    34. renal system development Source: UniProtKB
    35. response to chlorate Source: Ensembl
    36. response to drug Source: Ensembl
    37. response to estradiol Source: Ensembl
    38. response to mechanical stimulus Source: Ensembl
    39. response to retinoic acid Source: Ensembl
    40. smoothened signaling pathway Source: UniProtKB
    41. smoothened signaling pathway involved in dorsal/ventral neural tube patterning Source: Ensembl
    42. somite development Source: BHF-UCL
    43. spinal cord motor neuron differentiation Source: Ensembl

    Keywords - Molecular functioni

    Receptor

    Enzyme and pathway databases

    ReactomeiREACT_18372. Class B/2 (Secretin family receptors).
    SignaLinkiQ13635.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein patched homolog 1
    Short name:
    PTC
    Short name:
    PTC1
    Gene namesi
    Name:PTCH1
    Synonyms:PTCH
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:9585. PTCH1.

    Subcellular locationi

    GO - Cellular componenti

    1. axonal growth cone Source: Ensembl
    2. caveola Source: BHF-UCL
    3. dendritic growth cone Source: Ensembl
    4. integral component of membrane Source: UniProtKB-KW
    5. intracellular membrane-bounded organelle Source: BHF-UCL
    6. midbody Source: Ensembl
    7. perinuclear region of cytoplasm Source: BHF-UCL
    8. plasma membrane Source: BHF-UCL
    9. postsynaptic density Source: Ensembl
    10. primary cilium Source: Ensembl

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.5 Publications
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti175 – 1751L → P in BCNS; sporadic BCC. 1 Publication
    VAR_007843
    Natural varianti230 – 2301T → P in BCNS. 1 Publication
    VAR_020845
    Natural varianti376 – 3761F → S in BCNS. 1 Publication
    VAR_007844
    Natural varianti505 – 5062FL → LR in BCNS.
    VAR_020846
    Natural varianti509 – 5091G → R in BCNS; unknown pathological significance. 1 Publication
    VAR_010974
    Natural varianti509 – 5091G → V in BCNS. 1 Publication
    VAR_010975
    Natural varianti513 – 5131D → Y in BCNS. 1 Publication
    VAR_010976
    Natural varianti815 – 8151I → IPNI in BCNS.
    VAR_007845
    Natural varianti816 – 8161Missing in BCNS. 1 Publication
    VAR_010977
    Natural varianti1069 – 10691G → R in BCNS. 1 Publication
    VAR_010979
    Natural varianti1083 – 10831V → VV in BCNS. 1 Publication
    VAR_007846
    Natural varianti1114 – 11141R → W in BCNS and BCC. 1 Publication
    VAR_007847
    Natural varianti1132 – 11321S → P in BCNS. 1 Publication
    VAR_010980
    Natural varianti1132 – 11321S → Y in BCNS. 1 Publication
    VAR_010981
    Natural varianti1438 – 14381E → D in BCNS; sporadic NBCCS. 1 Publication
    VAR_010984
    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti175 – 1751L → P in BCNS; sporadic BCC. 1 Publication
    VAR_007843
    Natural varianti1114 – 11141R → W in BCNS and BCC. 1 Publication
    VAR_007847
    Natural varianti1438 – 14381E → D in BCNS; sporadic NBCCS. 1 Publication
    VAR_010984
    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti393 – 3931A → T in HPE7. 1 Publication
    VAR_032952
    Natural varianti443 – 4431A → G in HPE7. 1 Publication
    VAR_032953
    Natural varianti728 – 7281T → M in HPE7. 2 Publications
    Corresponds to variant rs28936404 [ dbSNP | Ensembl ].
    VAR_032954
    Natural varianti751 – 7511V → G in HPE7. 1 Publication
    VAR_032955
    Natural varianti827 – 8271S → G in HPE7. 1 Publication
    Corresponds to variant rs199476092 [ dbSNP | Ensembl ].
    VAR_032956
    Natural varianti908 – 9081V → G in HPE7. 1 Publication
    VAR_032957
    Natural varianti1052 – 10521T → M in HPE7. 2 Publications
    Corresponds to variant rs28936405 [ dbSNP | Ensembl ].
    VAR_032958

    Keywords - Diseasei

    Disease mutation, Holoprosencephaly, Tumor suppressor

    Organism-specific databases

    MIMi109400. phenotype.
    605462. phenotype.
    610828. phenotype.
    Orphaneti93925. 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.
    PharmGKBiPA33937.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 14471447Protein patched homolog 1PRO_0000205964Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi141 – 1411N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi312 – 3121N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi349 – 3491N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi414 – 4141N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi875 – 8751N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1000 – 10001N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    Glycosylation is necessary for SHH binding.By similarity

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ13635.
    PRIDEiQ13635.

    PTM databases

    PhosphoSiteiQ13635.

    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

    ArrayExpressiQ13635.
    BgeeiQ13635.
    CleanExiHS_PTCH1.
    GenevestigatoriQ13635.

    Organism-specific databases

    HPAiCAB013717.

    Interactioni

    Subunit structurei

    Interacts with SNX17. Interacts with IHH.2 Publications

    Protein-protein interaction databases

    BioGridi111699. 4 interactions.
    DIPiDIP-44940N.
    IntActiQ13635. 2 interactions.
    MINTiMINT-1543380.
    STRINGi9606.ENSP00000332353.

    Structurei

    3D structure databases

    ProteinModelPortaliQ13635.
    SMRiQ13635. Positions 988-1180.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 100100CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini122 – 436315ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini458 – 47215CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini494 – 5018ExtracellularSequence Analysis
    Topological domaini523 – 54725CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini569 – 5779ExtracellularSequence Analysis
    Topological domaini599 – 748150CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini770 – 1027258ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1049 – 10557CytoplasmicSequence Analysis
    Topological domaini1077 – 10837ExtracellularSequence Analysis
    Topological domaini1105 – 112117CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1142 – 115413ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1176 – 1447272CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei101 – 12121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei437 – 45721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei473 – 49321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei502 – 52221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei548 – 56821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei578 – 59821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei749 – 76921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1028 – 104821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1056 – 107621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1084 – 110421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1122 – 114120HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1155 – 117521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini438 – 598161SSDPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi14 – 3118Gly-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the patched family.Curated
    Contains 1 SSD (sterol-sensing) domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG313603.
    HOVERGENiHBG003801.
    InParanoidiQ13635.
    KOiK06225.
    OMAiPDRDYLH.
    OrthoDBiEOG7HMS06.
    PhylomeDBiQ13635.
    TreeFamiTF106489.

    Family and domain databases

    InterProiIPR003392. Patched.
    IPR000731. SSD.
    IPR004766. TM_rcpt_patched.
    [Graphical view]
    PfamiPF02460. Patched. 1 hit.
    [Graphical view]
    TIGRFAMsiTIGR00918. 2A060602. 1 hit.
    PROSITEiPS50156. SSD. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform L (identifier: Q13635-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MASAGNAAEP QDRGGGGSGC IGAPGRPAGG GRRRRTGGLR RAAAPDRDYL     50
    HRPSYCDAAF ALEQISKGKA TGRKAPLWLR AKFQRLLFKL GCYIQKNCGK 100
    FLVVGLLIFG AFAVGLKAAN LETNVEELWV EVGGRVSREL NYTRQKIGEE 150
    AMFNPQLMIQ TPKEEGANVL TTEALLQHLD SALQASRVHV YMYNRQWKLE 200
    HLCYKSGELI TETGYMDQII EYLYPCLIIT PLDCFWEGAK LQSGTAYLLG 250
    KPPLRWTNFD PLEFLEELKK INYQVDSWEE MLNKAEVGHG YMDRPCLNPA 300
    DPDCPATAPN KNSTKPLDMA LVLNGGCHGL SRKYMHWQEE LIVGGTVKNS 350
    TGKLVSAHAL QTMFQLMTPK QMYEHFKGYE YVSHINWNED KAAAILEAWQ 400
    RTYVEVVHQS VAQNSTQKVL SFTTTTLDDI LKSFSDVSVI RVASGYLLML 450
    AYACLTMLRW DCSKSQGAVG LAGVLLVALS VAAGLGLCSL IGISFNAATT 500
    QVLPFLALGV GVDDVFLLAH AFSETGQNKR IPFEDRTGEC LKRTGASVAL 550
    TSISNVTAFF MAALIPIPAL RAFSLQAAVV VVFNFAMVLL IFPAILSMDL 600
    YRREDRRLDI FCCFTSPCVS RVIQVEPQAY TDTHDNTRYS PPPPYSSHSF 650
    AHETQITMQS TVQLRTEYDP HTHVYYTTAE PRSEISVQPV TVTQDTLSCQ 700
    SPESTSSTRD LLSQFSDSSL HCLEPPCTKW TLSSFAEKHY APFLLKPKAK 750
    VVVIFLFLGL LGVSLYGTTR VRDGLDLTDI VPRETREYDF IAAQFKYFSF 800
    YNMYIVTQKA DYPNIQHLLY DLHRSFSNVK YVMLEENKQL PKMWLHYFRD 850
    WLQGLQDAFD SDWETGKIMP NNYKNGSDDG VLAYKLLVQT GSRDKPIDIS 900
    QLTKQRLVDA DGIINPSAFY IYLTAWVSND PVAYAASQAN IRPHRPEWVH 950
    DKADYMPETR LRIPAAEPIE YAQFPFYLNG LRDTSDFVEA IEKVRTICSN 1000
    YTSLGLSSYP NGYPFLFWEQ YIGLRHWLLL FISVVLACTF LVCAVFLLNP 1050
    WTAGIIVMVL ALMTVELFGM MGLIGIKLSA VPVVILIASV GIGVEFTVHV 1100
    ALAFLTAIGD KNRRAVLALE HMFAPVLDGA VSTLLGVLML AGSEFDFIVR 1150
    YFFAVLAILT ILGVLNGLVL LPVLLSFFGP YPEVSPANGL NRLPTPSPEP 1200
    PPSVVRFAMP PGHTHSGSDS SDSEYSSQTT VSGLSEELRH YEAQQGAGGP 1250
    AHQVIVEATE NPVFAHSTVV HPESRHHPPS NPRQQPHLDS GSLPPGRQGQ 1300
    QPRRDPPREG LWPPPYRPRR DAFEISTEGH SGPSNRARWG PRGARSHNPR 1350
    NPASTAMGSS VPGYCQPITT VTASASVTVA VHPPPVPGPG RNPRGGLCPG 1400
    YPETDHGLFE DPHVPFHVRC ERRDSKVEVI ELQDVECEER PRGSSSN 1447
    Length:1,447
    Mass (Da):160,545
    Last modified:October 23, 2007 - v2
    Checksum:iF2937247BC812F85
    GO
    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

    Show »
    Length:1,446
    Mass (Da):161,038
    Checksum:iE6AE7954E04633D1
    GO
    Isoform M (identifier: Q13635-3) [UniParc]FASTAAdd to Basket

    Also known as: 1C

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

    Show »
    Length:1,381
    Mass (Da):153,853
    Checksum:iF37D7805A3C69472
    GO
    Isoform S (identifier: Q13635-4) [UniParc]FASTAAdd to Basket

    Also known as: 1A, 1CdeltaE2

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

    Show »
    Length:1,296
    Mass (Da):144,356
    Checksum:i66CA1F5AE1BDCE61
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1109 – 11091G → S in AAC50496. (PubMed:8647801)Curated
    Sequence conflicti1144 – 11441E → D in AAC50496. (PubMed:8647801)Curated
    Sequence conflicti1175 – 11751L → W in AAC50496. (PubMed:8647801)Curated
    Sequence conflicti1283 – 12831R → K in AAC50496. (PubMed:8647801)Curated
    Sequence conflicti1309 – 13091E → K in AAC50496. (PubMed:8647801)Curated
    Sequence conflicti1353 – 13531A → T in AAC50496. (PubMed:8647801)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti175 – 1751L → P in BCNS; sporadic BCC. 1 Publication
    VAR_007843
    Natural varianti230 – 2301T → P in BCNS. 1 Publication
    VAR_020845
    Natural varianti376 – 3761F → S in BCNS. 1 Publication
    VAR_007844
    Natural varianti393 – 3931A → T in HPE7. 1 Publication
    VAR_032952
    Natural varianti443 – 4431A → G in HPE7. 1 Publication
    VAR_032953
    Natural varianti505 – 5062FL → LR in BCNS.
    VAR_020846
    Natural varianti509 – 5091G → R in BCNS; unknown pathological significance. 1 Publication
    VAR_010974
    Natural varianti509 – 5091G → V in BCNS. 1 Publication
    VAR_010975
    Natural varianti513 – 5131D → Y in BCNS. 1 Publication
    VAR_010976
    Natural varianti728 – 7281T → M in HPE7. 2 Publications
    Corresponds to variant rs28936404 [ dbSNP | Ensembl ].
    VAR_032954
    Natural varianti751 – 7511V → G in HPE7. 1 Publication
    VAR_032955
    Natural varianti815 – 8151I → IPNI in BCNS.
    VAR_007845
    Natural varianti816 – 8161Missing in BCNS. 1 Publication
    VAR_010977
    Natural varianti827 – 8271S → G in HPE7. 1 Publication
    Corresponds to variant rs199476092 [ dbSNP | Ensembl ].
    VAR_032956
    Natural varianti829 – 8291V → M in squamous cell carcinoma. 1 Publication
    VAR_010978
    Natural varianti908 – 9081V → G in HPE7. 1 Publication
    VAR_032957
    Natural varianti1052 – 10521T → M in HPE7. 2 Publications
    Corresponds to variant rs28936405 [ dbSNP | Ensembl ].
    VAR_032958
    Natural varianti1069 – 10691G → R in BCNS. 1 Publication
    VAR_010979
    Natural varianti1083 – 10831V → VV in BCNS. 1 Publication
    VAR_007846
    Natural varianti1114 – 11141R → W in BCNS and BCC. 1 Publication
    VAR_007847
    Natural varianti1132 – 11321S → P in BCNS. 1 Publication
    VAR_010980
    Natural varianti1132 – 11321S → Y in BCNS. 1 Publication
    VAR_010981
    Natural varianti1195 – 11951T → S.
    Corresponds to variant rs2236405 [ dbSNP | Ensembl ].
    VAR_020440
    Natural varianti1242 – 12421E → K in squamous cell carcinoma. 1 Publication
    VAR_010982
    Natural varianti1282 – 12821P → L.
    Corresponds to variant rs2227968 [ dbSNP | Ensembl ].
    VAR_020847
    Natural varianti1315 – 13151P → L.4 Publications
    Corresponds to variant rs357564 [ dbSNP | Ensembl ].
    VAR_010983
    Natural varianti1438 – 14381E → D in BCNS; sporadic NBCCS. 1 Publication
    VAR_010984

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 6666MASAG…LEQIS → MELLNRNRLVIVSPRCTPPK ASGGPARRGFYTFRSFCKDG GGGEEEEENGGEEKDDRGDK ETRSD in isoform L'. 1 PublicationVSP_041369Add
    BLAST
    Alternative sequencei2 – 152151Missing in isoform S. 3 PublicationsVSP_041370Add
    BLAST
    Alternative sequencei2 – 6766Missing in isoform M. 2 PublicationsVSP_041371Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS43851.1. [Q13635-4]
    CCDS47995.1. [Q13635-2]
    CCDS47996.1. [Q13635-3]
    CCDS6714.1. [Q13635-1]
    RefSeqiNP_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]
    XP_005252159.1. XM_005252102.1. [Q13635-4]
    UniGeneiHs.494538.

    Genome annotation databases

    EnsembliENST00000331920; 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.
    GeneIDi5727.
    KEGGihsa:5727.
    UCSCiuc004avk.4. human. [Q13635-1]
    uc004avm.4. human. [Q13635-2]
    uc010mrr.3. human. [Q13635-3]

    Polymorphism databases

    DMDMi160415977.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    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 ]
    XP_005252159.1. XM_005252102.1. [Q13635-4 ]
    UniGenei Hs.494538.

    3D structure databases

    ProteinModelPortali Q13635.
    SMRi Q13635. Positions 988-1180.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111699. 4 interactions.
    DIPi DIP-44940N.
    IntActi Q13635. 2 interactions.
    MINTi MINT-1543380.
    STRINGi 9606.ENSP00000332353.

    PTM databases

    PhosphoSitei Q13635.

    Polymorphism databases

    DMDMi 160415977.

    Proteomic databases

    PaxDbi Q13635.
    PRIDEi Q13635.

    Protocols and materials databases

    DNASUi 5727.
    Structural Biology Knowledgebase Search...

    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 ]
    ENST00000468211 ; ENSP00000449745 ; ENSG00000185920 .
    ENST00000546820 ; ENSP00000448843 ; ENSG00000185920 .
    ENST00000547672 ; ENSP00000447878 ; ENSG00000185920 .
    ENST00000551845 ; ENSP00000447008 ; ENSG00000185920 .
    ENST00000553011 ; ENSP00000447797 ; ENSG00000185920 .
    GeneIDi 5727.
    KEGGi hsa:5727.
    UCSCi uc004avk.4. human. [Q13635-1 ]
    uc004avm.4. human. [Q13635-2 ]
    uc010mrr.3. human. [Q13635-3 ]

    Organism-specific databases

    CTDi 5727.
    GeneCardsi GC09M098205.
    GeneReviewsi PTCH1.
    HGNCi HGNC:9585. PTCH1.
    HPAi CAB013717.
    MIMi 109400. phenotype.
    601309. gene.
    605462. phenotype.
    610828. phenotype.
    neXtProti NX_Q13635.
    Orphaneti 93925. 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.
    PharmGKBi PA33937.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG313603.
    HOVERGENi HBG003801.
    InParanoidi Q13635.
    KOi K06225.
    OMAi PDRDYLH.
    OrthoDBi EOG7HMS06.
    PhylomeDBi Q13635.
    TreeFami TF106489.

    Enzyme and pathway databases

    Reactomei REACT_18372. Class B/2 (Secretin family receptors).
    SignaLinki Q13635.

    Miscellaneous databases

    ChiTaRSi PTCH1. human.
    GeneWikii PTCH1.
    GenomeRNAii 5727.
    NextBioi 22266.
    PROi Q13635.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q13635.
    Bgeei Q13635.
    CleanExi HS_PTCH1.
    Genevestigatori Q13635.

    Family and domain databases

    InterProi IPR003392. Patched.
    IPR000731. SSD.
    IPR004766. TM_rcpt_patched.
    [Graphical view ]
    Pfami PF02460. Patched. 1 hit.
    [Graphical view ]
    TIGRFAMsi TIGR00918. 2A060602. 1 hit.
    PROSITEi PS50156. SSD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. 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.
      , 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. 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. "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.
    19. "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.
    20. "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.

    Entry informationi

    Entry nameiPTC1_HUMAN
    AccessioniPrimary (citable) accession number: Q13635
    Secondary accession number(s): A3KBI9
    , E9PEJ8, Q13463, Q5R1U7, Q5R1U9, Q5R1V0, Q5VZC0, Q5VZC2, Q86XG7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: October 23, 2007
    Last modified: October 1, 2014
    This is version 150 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3