Entity Details

Primary name PTC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ13635
EntryNamePTC1_HUMAN
FullNameProtein patched homolog 1
TaxID9606
Evidenceevidence at protein level
Length1447
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesPTCH1

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001701 in utero embryonic development
GO:0001709 cell fate determination
GO:0001843 neural tube closure
GO:0003007 heart morphogenesis
GO:0005113 patched binding
GO:0005119 smoothened binding
GO:0005634 nucleus
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0007224 smoothened signaling pathway
GO:0007346 regulation of mitotic cell cycle
GO:0007420 brain development
GO:0008158 hedgehog receptor activity
GO:0008201 heparin binding
GO:0008589 regulation of smoothened signaling pathway
GO:0009612 response to mechanical stimulus
GO:0009887 animal organ morphogenesis
GO:0009953 dorsal/ventral pattern formation
GO:0009957 epidermal cell fate specification
GO:0010157 response to chlorate
GO:0010875 positive regulation of cholesterol efflux
GO:0014069 postsynaptic density
GO:0015485 cholesterol binding
GO:0016021 integral component of membrane
GO:0016485 protein processing
GO:0021522 spinal cord motor neuron differentiation
GO:0021532 neural tube patterning
GO:0021997 neural plate axis specification
GO:0030326 embryonic limb morphogenesis
GO:0030332 cyclin binding
GO:0030496 midbody
GO:0030666 endocytic vesicle membrane
GO:0030850 prostate gland development
GO:0032355 response to estradiol
GO:0032526 response to retinoic acid
GO:0032880 regulation of protein localization
GO:0035108 limb morphogenesis
GO:0035137 hindlimb morphogenesis
GO:0040015 negative regulation of multicellular organism growth
GO:0042493 response to drug
GO:0042593 glucose homeostasis
GO:0043231 intracellular membrane-bounded organelle
GO:0043433 negative regulation of DNA-binding transcription factor activity
GO:0043616 keratinocyte proliferation
GO:0044294 dendritic growth cone
GO:0044295 axonal growth cone
GO:0044877 protein-containing complex binding
GO:0045177 apical part of cell
GO:0045606 positive regulation of epidermal cell differentiation
GO:0045668 negative regulation of osteoblast differentiation
GO:0045879 negative regulation of smoothened signaling pathway
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048471 perinuclear region of cytoplasm
GO:0048568 embryonic organ development
GO:0048745 smooth muscle tissue development
GO:0050680 negative regulation of epithelial cell proliferation
GO:0051782 negative regulation of cell division
GO:0060037 pharyngeal system development
GO:0060170 ciliary membrane
GO:0060603 mammary gland duct morphogenesis
GO:0060644 mammary gland epithelial cell differentiation
GO:0060831 smoothened signaling pathway involved in dorsal/ventral neural tube patterning
GO:0061005 cell differentiation involved in kidney development
GO:0061053 somite development
GO:0071397 cellular response to cholesterol
GO:0071679 commissural neuron axon guidance
GO:0072203 cell proliferation involved in metanephros development
GO:0072205 metanephric collecting duct development
GO:0072659 protein localization to plasma membrane
GO:0097108 hedgehog family protein binding
GO:0097421 liver regeneration

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR000731 Sterol-sensing domainDomainDomain
IPR003392 Protein patched/dispatchedFamilyFamily
IPR004766 Transmembrane receptor, patchedFamilyFamily

Diseases

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Disease IDSourceNameDescription
605462 OMIMBasal cell carcinoma (BCC)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. The disease is caused by variants affecting the gene represented in this entry.
610828 OMIMHoloprosencephaly 7 (HPE7)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. The disease is caused by variants affecting the gene represented in this entry.
109400 OMIMBasal cell nevus syndrome (BCNS)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. The disease may be caused by variants affecting the gene represented in this entry.

Interactions

49 interactions

InteractorPartnerSourcesPublicationsLink
PTC1_HUMANYAP1_HUMANBioGRID, MINT25283809 details
PTC1_HUMANSHH_HUMANBioGRID, DIP, HPRD, IntAct16282375 19561609 29954986 30139912 31253779 9811851 details
PTC1_HUMANAPBP2_HUMANBioGRID, IntAct32296183 details
PTC1_HUMANF209A_HUMANBioGRID, IntAct32296183 details
PTC1_HUMANMO2R1_HUMANBioGRID, IntAct32296183 details
PTC1_HUMANCD79A_HUMANBioGRID, IntAct32296183 details
PTC1_HUMANTMPS2_HUMANBioGRID, IntAct32296183 details
PTC1_HUMANSTOM_HUMANBioGRID, IntAct32296183 details
PTC1_HUMANHG2A_HUMANBioGRID, IntAct32296183 details
PTC1_HUMAN3HIDH_HUMANBioGRID, IntAct32296183 details
PTC1_HUMANSIG12_HUMANBioGRID, IntAct32296183 details
PTC1_HUMANCREB3_HUMANBioGRID, IntAct25910212 details
PTC1_HUMANHD_HUMANIntAct32814053 details
PTC1_HUMANATM_HUMANBioGRID15142440 details
PTC1_HUMANATGA1_HUMANBioGRID29453315 details
PTC1_HUMANTSN8_HUMANBioGRID31253779 details
PTC1_HUMANSMO_HUMANbhf-ucl, BioGRID, HPRD11278759 9811851 details
PTC1_HUMANARBK1_HUMANBioGRID, DIP19502428 26885983 31253779 details
PTC1_HUMANCCNB1_HUMANBioGRID, DIP, HPRD15592520 19502428 9926943 details
PTC1_HUMANCDON_HUMANIntAct21802063 details
PTC1_HUMANCAV1_HUMANBioGRID11278759 details
PTC1_HUMANITCH_HUMANBioGRID25092867 details
PTC1_HUMANWWP2_HUMANBioGRID25092867 details
PTC1_HUMANNEDD4_HUMANBioGRID25092867 details
PTC1_HUMANNED4L_HUMANBioGRID25092867 details
PTC1_HUMANSMUF1_HUMANBioGRID25092867 details
PTC1_HUMANSMUF2_HUMANBioGRID25092867 details
PTC1_HUMANWWP1_HUMANBioGRID25092867 details
PTC1_HUMANCASP9_HUMANBioGRID25092867 details
PTC1_HUMANFHL2_HUMANBioGRID25092867 details
PTC1_HUMANPRP19_HUMANBioGRID26885983 details
PTC1_HUMANPTC1_HUMANBioGRID26885983 31168089 details
PTC1_HUMANSKP1_HUMANBioGRID26885983 details
PTC1_HUMANELOC_HUMANBioGRID26885983 details
PTC1_HUMANZY11B_HUMANBioGRID26885983 details
PTC1_HUMANELOB_HUMANBioGRID26885983 details
PTC1_HUMANCUL2_HUMANBioGRID26885983 details
PTC1_HUMANCUL1_HUMANBioGRID26885983 details
PTC1_HUMANCUL3_HUMANBioGRID26885983 details
PTC1_HUMANFBW1A_HUMANBioGRID26885983 details
PTC1_HUMANRBCC1_HUMANBioGRID29453315 details
PTC1_HUMANULK1_HUMANBioGRID29453315 details
PTC1_HUMANATG13_HUMANBioGRID29453315 details
PTC1_HUMANATX3_HUMANBioGRID31253779 details
PTC1_HUMANSTAT3_HUMANBioGRID29449694 details
PTC1_HUMANIHH_HUMANHPRD9811851 details
PTC1_HUMANDHH_HUMANHPRD9811851 details
PTC1_HUMANHIPK2_HUMANHPRD12874272 details
PTC1_HUMANCDK1_HUMANHPRD11331587 details