Names & Taxonomy
- Uniprot ID:
- Q96NR3
- Entry Name:
- PTHD1_HUMAN
- Status:
- reviewed
- Protein Names:
- Patched domain-containing protein 1
- Gene Names:
- PTCHD1
- Gene Names Primary:
- PTCHD1
- Organism:
- Homo sapiens (Human)
Structure
- Length:
- 888
- Sequence:
- MLRQVLHRGLRTCFSRLGHFIASHPVFFASAPVLISILLGASFSRYQVEESVEHLLAPQHSLAKIERNLVNSLFPVNRSKHRLYSDLQTPGRYGRVIVTSFQKANMLDQHHTDLILKLHAAVTKIQVPRPGFNYTFAHICILNNDKTCIVDDIVHVLEELKNARATNRTNFAITYPITHLKDGRAVYNGHQLGGVTVHSKDRVKSAEAIQLTYYLQSINSLNDMVAERWESSFCDTVRLFQKSNSKVKMYPYTSSSLREDFQKTSRVSERYLVTSLILVVTMAILCCSMQDCVRSKPWLGLLGLVTISLATLTAAGIINLTGGKYNSTFLGVPFVMLGHGLYGTFEMLSSWRKTREDQHVKERTAAVYADSMLSFSLTTAMYLVTFGIGASPFTNIEAARIFCCNSCIAIFFNYLYVLSFYGSSLVFTGYIENNYQHSIFCRKVPKPEALQEKPAWYRFLLTARFSEDTAEGEEANTYESHLLVCFLKRYYCDWITNTYVKPFVVLFYLIYISFALMGYLQVSEGSDLSNIVATATQTIEYTTAQQKYFSNYSPVIGFYIYESIEYWNTSVQEDVLEYTKGFVRISWFESYLNYLRKLNVSTGLPKKNFTDMLRNSFLKAPQFSHFQEDIIFSKKYNDEVDVVASRMFLVAKTMETNREELYDLLETLRRLSVTSKVKFIVFNPSFVYMDRYASSLGAPLHNSCISALFLLFFSAFLVADSLINVWITLTVVSVEFGVIGFMTLWKVELDCISVLCLIYGINYTIDNCAPMLSTFVLGKDFTRTKWVKNALEVHGVAILQSYLCYIVGLIPLAAVPSNLTCTLFRCLFLIAFVTFFHCFAILPVILTFLPPSKKKRKEKKNPENREEIECVEMVDIDSTRVVDQITTV
- Proteomes:
- UP000005640
Subcellular location
- Subcellular Location:
- Cell membrane
Function
- Gene Ontology Go:
- integral component of membrane
plasma membrane
hedgehog receptor activity
cognition
smoothened signaling pathway - Gene Ontology Biological Process:
- cognition
smoothened signaling pathway - Gene Ontology Molecular Function:
- hedgehog receptor activity
- Gene Ontology Cellular Component:
- integral component of membrane
plasma membrane - Keywords:
- Alternative splicing
Autism
Autism spectrum disorder
Cell membrane
Complete proteome
Glycoprotein
Membrane
Polymorphism
Reference proteome
Transmembrane
Transmembrane helix