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6DMO

Cryo-EM structure of human Ptch1 with three mutations L282Q/T500F/P504L

Functional Information from GO Data
ChainGOidnamespacecontents
A0000122biological_processnegative regulation of transcription by RNA polymerase II
A0001658biological_processbranching involved in ureteric bud morphogenesis
A0001701biological_processin utero embryonic development
A0001709biological_processcell fate determination
A0001841biological_processneural tube formation
A0001843biological_processneural tube closure
A0003007biological_processheart morphogenesis
A0005113molecular_functionpatched binding
A0005119molecular_functionsmoothened binding
A0005515molecular_functionprotein binding
A0005794cellular_componentGolgi apparatus
A0005886cellular_componentplasma membrane
A0005901cellular_componentcaveola
A0005929cellular_componentcilium
A0007165biological_processsignal transduction
A0007224biological_processsmoothened signaling pathway
A0007286biological_processspermatid development
A0007346biological_processregulation of mitotic cell cycle
A0007389biological_processpattern specification process
A0007420biological_processbrain development
A0008158molecular_functionhedgehog receptor activity
A0008201molecular_functionheparin binding
A0008285biological_processnegative regulation of cell population proliferation
A0008544biological_processepidermis development
A0008589biological_processregulation of smoothened signaling pathway
A0009410biological_processresponse to xenobiotic stimulus
A0009612biological_processresponse to mechanical stimulus
A0009887biological_processanimal organ morphogenesis
A0009953biological_processdorsal/ventral pattern formation
A0009957biological_processepidermal cell fate specification
A0010157biological_processresponse to chlorate
A0010839biological_processnegative regulation of keratinocyte proliferation
A0010875biological_processpositive regulation of cholesterol efflux
A0014070biological_processresponse to organic cyclic compound
A0015485molecular_functioncholesterol binding
A0016020cellular_componentmembrane
A0016485biological_processprotein processing
A0021522biological_processspinal cord motor neuron differentiation
A0021532biological_processneural tube patterning
A0021904biological_processdorsal/ventral neural tube patterning
A0021997biological_processneural plate axis specification
A0030326biological_processembryonic limb morphogenesis
A0030332molecular_functioncyclin binding
A0030496cellular_componentmidbody
A0030666cellular_componentendocytic vesicle membrane
A0030850biological_processprostate gland development
A0030879biological_processmammary gland development
A0032355biological_processresponse to estradiol
A0032526biological_processresponse to retinoic acid
A0032880biological_processregulation of protein localization
A0035108biological_processlimb morphogenesis
A0035137biological_processhindlimb morphogenesis
A0040008biological_processregulation of growth
A0040015biological_processnegative regulation of multicellular organism growth
A0042127biological_processregulation of cell population proliferation
A0042593biological_processglucose homeostasis
A0043231cellular_componentintracellular membrane-bounded organelle
A0043433biological_processnegative regulation of DNA-binding transcription factor activity
A0043616biological_processkeratinocyte proliferation
A0044294cellular_componentdendritic growth cone
A0044295cellular_componentaxonal growth cone
A0044877molecular_functionprotein-containing complex binding
A0045177cellular_componentapical part of cell
A0045606biological_processpositive regulation of epidermal cell differentiation
A0045668biological_processnegative regulation of osteoblast differentiation
A0045879biological_processnegative regulation of smoothened signaling pathway
A0045892biological_processnegative regulation of DNA-templated transcription
A0045893biological_processpositive regulation of DNA-templated transcription
A0048471cellular_componentperinuclear region of cytoplasm
A0048568biological_processembryonic organ development
A0048745biological_processsmooth muscle tissue development
A0050673biological_processepithelial cell proliferation
A0050680biological_processnegative regulation of epithelial cell proliferation
A0051782biological_processnegative regulation of cell division
A0060037biological_processpharyngeal system development
A0060170cellular_componentciliary membrane
A0060603biological_processmammary gland duct morphogenesis
A0060644biological_processmammary gland epithelial cell differentiation
A0061005biological_processcell differentiation involved in kidney development
A0061053biological_processsomite development
A0071397biological_processcellular response to cholesterol
A0071679biological_processcommissural neuron axon guidance
A0072089biological_processstem cell proliferation
A0072203biological_processcell proliferation involved in metanephros development
A0072205biological_processmetanephric collecting duct development
A0072659biological_processprotein localization to plasma membrane
A0097108molecular_functionhedgehog family protein binding
A0097421biological_processliver regeneration
A2000647biological_processnegative regulation of stem cell proliferation
Functional Information from SwissProt/UniProt
site_idSWS_FT_FI1
Number of Residues308
DetailsTOPO_DOM: Cytoplasmic => ECO:0000255
ChainResidueDetails
AMET1-LYS100
ALEU458-ALA472
ASER523-SER547
AASP599-LYS748
AASN1049-ILE1055
ALEU1105-HIS1121

site_idSWS_FT_FI2
Number of Residues239
DetailsTRANSMEM: Helical => ECO:0000255
ChainResidueDetails
APHE101-LEU121
AVAL437-MET457
AGLY473-ILE493
AVAL502-PHE522
AVAL548-PRO568
AALA578-MET598
AALA749-THR769
ALEU1028-LEU1048
AILE1056-ILE1076
AVAL1084-PHE1104
AMET1122-ALA1141
AVAL1155-LEU1175

site_idSWS_FT_FI3
Number of Residues604
DetailsTOPO_DOM: Extracellular => ECO:0000255
ChainResidueDetails
AGLU122-ASP436
ASER494-GLN501
AALA569-ALA577
AARG770-TRP1027
ALYS1077-VAL1083
AGLY1142-ALA1154

site_idSWS_FT_FI4
Number of Residues1
DetailsMOD_RES: Phosphothreonine => ECO:0000250|UniProtKB:Q61115
ChainResidueDetails
ATHR1195

site_idSWS_FT_FI5
Number of Residues1
DetailsMOD_RES: Phosphoserine => ECO:0000250|UniProtKB:Q61115
ChainResidueDetails
ASER1197

site_idSWS_FT_FI6
Number of Residues6
DetailsCARBOHYD: N-linked (GlcNAc...) asparagine => ECO:0000255
ChainResidueDetails
AASN141
AASN312
AASN349
AASN414
AASN875
AASN1000

219869

PDB entries from 2024-05-15

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