AutismKB 2.0

Annotation Details for PTCH1


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Basic Information Top
Gene Symbol:PTCH1 ( BCNS,FLJ26746,FLJ42602,HPE7,NBCCS,PTC,PTC1,PTCH,PTCH11 )
Gene Full Name: patched 1
Band: 9q22.32
Quick LinksEntrez ID:5727; OMIM: 601309; Uniprot ID:PTC1_HUMAN; ENSEMBL ID: ENSG00000185920; HGNC ID: 9585
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005794IDAcolocalizes_withGolgi apparatus11278759
GO:0005886IDA-plasma membrane11278759
GO:0005901IDA-caveola11278759
GO:0014069IEA-postsynaptic density-
GO:0016021IEA-integral component of membrane-
GO:0030496IEA-midbody-
GO:0030666TAS-endocytic vesicle membrane-
GO:0043231IDA-intracellular membrane-bounded organelle11278759
GO:0044294IEA-dendritic growth cone-
GO:0044295IEA-axonal growth cone-
GO:0048471IDA-perinuclear region of cytoplasm11278759
GO:0060170TAS-ciliary membrane-
GO ID Evidence Qualifier GO_term References
GO:0005113IEA-patched binding-
GO:0005119IPI-smoothened binding9811851
GO:0005515IPI-protein binding19561609
GO:0008158IEA-hedgehog receptor activity-
GO:0008201IEA-heparin binding-
GO:0015485IDA-cholesterol binding21931618
GO:0030332IPI-cyclin binding11331587
GO:0032403IEA-protein complex binding-
GO:0097108IPI-hedgehog family protein binding9811851
GO ID Evidence Qualifier GO_term References
GO:0000122IMP-negative regulation of transcription from RNA polymerase II promoter16229683
GO:0001658IEA-branching involved in ureteric bud morphogenesis-
GO:0001701IEA-in utero embryonic development-
GO:0001709IEA-cell fate determination-
GO:0001843IEA-neural tube closure-
GO:0003007IEA-heart morphogenesis-
GO:0007224IEP-smoothened signaling pathway17850284
GO:0007224ISS-smoothened signaling pathway-
GO:0007346IEA-regulation of mitotic cell cycle-
GO:0007420ISS-brain development-
GO:0008589ISS-regulation of smoothened signaling pathway-
GO:0009612IEA-response to mechanical stimulus-
GO:0009887ISS-animal organ morphogenesis-
GO:0009953ISS-dorsal/ventral pattern formation-
GO:0009957IEA-epidermal cell fate specification-
GO:0010157IEA-response to chlorate-
GO:0010875IDA-positive regulation of cholesterol efflux21931618
GO:0016485ISS-protein processing-
GO:0021522IEA-spinal cord motor neuron differentiation-
GO:0021532IMP-neural tube patterning8681379
GO:0021997ISS-neural plate axis specification-
GO:0030326ISS-embryonic limb morphogenesis-
GO:0032355IEA-response to estradiol-
GO:0032526IEA-response to retinoic acid-
GO:0032880IEA-regulation of protein localization-
GO:0035108IMP-limb morphogenesis8681379
GO:0035137IEA-hindlimb morphogenesis-
GO:0040015ISS-negative regulation of multicellular organism growth-
GO:0042493IEA-response to drug-
GO:0042593IEA-glucose homeostasis-
GO:0043433IMP-negative regulation of sequence-specific DNA binding transcription factor activity16229683
GO:0043616IEA-keratinocyte proliferation-
GO:0045606IEA-positive regulation of epidermal cell differentiation-
GO:0045668IMP-negative regulation of osteoblast differentiation16229683
GO:0045879ISS-negative regulation of smoothened signaling pathway-
GO:0045879TAS-negative regulation of smoothened signaling pathway11001584
GO:0045893IEA-positive regulation of transcription, DNA-templated-
GO:0048568IEA-embryonic organ development-
GO:0050680IEA-negative regulation of epithelial cell proliferation-
GO:0051782IEA-negative regulation of cell division-
GO:0060037IMP-pharyngeal system development8681379
GO:0060603IEA-mammary gland duct morphogenesis-
GO:0060644IEA-mammary gland epithelial cell differentiation-
GO:0060831IEA-smoothened signaling pathway involved in dorsal/ventral neural tube patterning-
GO:0061005IEA-cell differentiation involved in kidney development-
GO:0061053IMP-somite development8681379
GO:0071397IMP-cellular response to cholesterol11278759
GO:0071397ISS-cellular response to cholesterol-
GO:0072001IEP-renal system development17850284
GO:0072203IEA-cell proliferation involved in metanephros development-
GO:0072661IDA-protein targeting to plasma membrane11278759
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SMOPTCH11124929811851 Affinity Capture-Western
SMOPTCH11116999811851 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:105373
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-980526-196'