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

Publication

PubMed ID:
14702039 15772651 15489334 20844286 25131214