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Q13635

- PTC1_HUMAN

UniProt

Q13635 - PTC1_HUMAN

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Protein

Protein patched homolog 1

Gene

PTCH1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

ReactomeiREACT_18372. Class B/2 (Secretin family receptors).
REACT_267634. Hedgehog 'off' state.
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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 100100CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei101 – 12121HelicalSequence AnalysisAdd
BLAST
Topological domaini122 – 436315ExtracellularSequence AnalysisAdd
BLAST
Transmembranei437 – 45721HelicalSequence AnalysisAdd
BLAST
Topological domaini458 – 47215CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei473 – 49321HelicalSequence AnalysisAdd
BLAST
Topological domaini494 – 5018ExtracellularSequence Analysis
Transmembranei502 – 52221HelicalSequence AnalysisAdd
BLAST
Topological domaini523 – 54725CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei548 – 56821HelicalSequence AnalysisAdd
BLAST
Topological domaini569 – 5779ExtracellularSequence Analysis
Transmembranei578 – 59821HelicalSequence AnalysisAdd
BLAST
Topological domaini599 – 748150CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei749 – 76921HelicalSequence AnalysisAdd
BLAST
Topological domaini770 – 1027258ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1028 – 104821HelicalSequence AnalysisAdd
BLAST
Topological domaini1049 – 10557CytoplasmicSequence Analysis
Transmembranei1056 – 107621HelicalSequence AnalysisAdd
BLAST
Topological domaini1077 – 10837ExtracellularSequence Analysis
Transmembranei1084 – 110421HelicalSequence AnalysisAdd
BLAST
Topological domaini1105 – 112117CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1122 – 114120HelicalSequence AnalysisAdd
BLAST
Topological domaini1142 – 115413ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1155 – 117521HelicalSequence AnalysisAdd
BLAST
Topological domaini1176 – 1447272CytoplasmicSequence AnalysisAdd
BLAST

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
Complete GO annotation...

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

BgeeiQ13635.
CleanExiHS_PTCH1.
ExpressionAtlasiQ13635. baseline and differential.
GenevestigatoriQ13635.

Organism-specific databases

HPAiCAB013717.

Interactioni

Subunit structurei

Interacts with SNX17. Interacts with IHH.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
YAP1P469373EBI-8775406,EBI-1044059

Protein-protein interaction databases

BioGridi111699. 89 interactions.
DIPiDIP-44940N.
IntActiQ13635. 3 interactions.
MINTiMINT-1543380.
STRINGi9606.ENSP00000332353.

Structurei

3D structure databases

ProteinModelPortaliQ13635.
ModBaseiSearch...
MobiDBiSearch...

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.
GeneTreeiENSGT00760000119174.
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

        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
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111699. 89 interactions.
DIPi DIP-44940N.
IntActi Q13635. 3 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.
GeneTreei ENSGT00760000119174.
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).
REACT_267634. Hedgehog 'off' state.
SignaLinki Q13635.

Miscellaneous databases

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

Gene expression databases

Bgeei Q13635.
CleanExi HS_PTCH1.
ExpressionAtlasi Q13635. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 152 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