UniProt:Q13635 PTCH1

chain
  • chain:1-1447
checksum F2937247BC812F85
comment
  • FUNCTION 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.SUBUNIT Interacts with SNX17 (PubMed:15769472). Interacts with IHH (PubMed:21537345). Interacts with G-protein coupled receptor GPR37L1 (By similarity).INTERACTION 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 STAGE 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.PTM Glycosylation is necessary for SHH binding.PTM In the absence of Hh ligands, ubiquitination by ITCH at Lys-1426 promotes endocytosis and both proteasomal and lysosomal degradation.DISEASE The disease may be caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the patched family.
databaseName UniProt
dbId 62393
description
  • recommendedName: Protein patched homolog 1 shortName: PTC shortName: PTC1
displayName UniProt:Q13635 PTCH1
geneName
  • PTCH1
  • PTCH
identifier Q13635
isSequenceChanged false
keyword
  • 3D-structure
  • Alternative splicing
  • Cell membrane
  • Disease variant
  • Glycoprotein
  • Holoprosencephaly
  • Isopeptide bond
  • Membrane
  • Phosphoprotein
  • Proteomics identification
  • Receptor
  • Reference proteome
  • Transmembrane
  • Transmembrane helix
  • Tumor suppressor
  • Ubl conjugation
modified [InstanceEdit:9926675] Weiser, Joel, 2024年11月03日
moleculeType Protein
name
  • PTCH1
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • PTC1_HUMAN
  • A3KBI9
  • E9PEJ8
  • Q13463
  • Q5R1U7
  • Q5R1U9
  • Q5R1V0
  • Q5VZC0
  • Q5VZC2
  • Q86XG7
sequenceLength 1447
species [Species:48887] Homo sapiens
stId uniprot:Q13635
url http://purl.uniprot.org/uniprot/Q13635
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