PTCHD1
entrez
139411
canonical
uniprot
Q96NR3
canonical
ensembl
ENSG00000165186
resolver
ensp
ENSP00000368666
resolver
ensp
ENSP00000573647
resolver
genesymbol
PTCHD1
resolver
hgnc
HGNC:26392
resolver
uniprot
B4DQH0
resolver
uniprot
Q0IJ60
resolver
uniprot
Q6P6B8
resolver
uniprot
X5DNX9
resolver
uniprot_entry
PTHD1_HUMAN
resolver
uniprot_entry
X5DNX9_HUMAN
resolver
uniprot_sec
B4DQH0
resolver
uniprot_sec
Q0IJ60
resolver
uniprot_sec
Q6P6B8
resolver
amino_acid_sequence
MLRQVLHRGLRTCFSRLGHFIASHPVFFASAPVLISILLGASFSRYQVEESVEHLLAPQHSLAKIERNLVNSLFPVNRSKHRLYSDLQTPGRYGRVIVTSFQKANMLDQHHTDLILKLHAAVTKIQVPRPGFNYTFAHICILNNDKTCIVDDIVHVLEELKNARATNRTNFAITYPITHLKDGRAVYNGHQLGGVTVHSKDRVKSAEAIQLTYYLQSINSLNDMVAERWESSFCDTVRLFQKSNSKVKMYPYTSSSLREDFQKTSRVSERYLVTSLILVVTMAILCCSMQDCVRSKPWLGLLGLVTISLATLTAAGIINLTGGKYNSTFLGVPFVMLGHGLYGTFEMLSSWRKTREDQHVKERTAAVYADSMLSFSLTTAMYLVTFGIGASPFTNIEAARIFCCNSCIAIFFNYLYVLSFYGSSLVFTGYIENNYQHSIFCRKVPKPEALQEKPAWYRFLLTARFSEDTAEGEEANTYESHLLVCFLKRYYCDWITNTYVKPFVVLFYLIYISFALMGYLQVSEGSDLSNIVATATQTIEYTTAQQKYFSNYSPVIGFYIYESIEYWNTSVQEDVLEYTKGFVRISWFESYLNYLRKLNVSTGLPKKNFTDMLRNSFLKAPQFSHFQEDIIFSKKYNDEVDVVASRMFLVAKTMETNREELYDLLETLRRLSVTSKVKFIVFNPSFVYMDRYASSLGAPLHNSCISALFLLFFSAFLVADSLINVWITLTVVSVEFGVIGFMTLWKVELDCISVLCLIYGINYTIDNCAPMLSTFVLGKDFTRTKWVKNALEVHGVAILQSYLCYIVGLIPLAAVPSNLTCTLFRCLFLIAFVTFFHCFAILPVILTFLPPSKKKRKEKKNPENREEIECVEMVDIDSTRVVDQITTV
uniprot
proteins
disease_involvement
DISEASE: Autism, X-linked 4 (AUTSX4) [MIM:300830]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. {ECO:0000269|PubMed:20844286, ECO:0000269|PubMed:25131214, ECO:0000269|PubMed:25782667}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for the development and function of the thalamic reticular nucleus (TRN), a part of the thalamus that is critical for thalamocortical transmission, generation of sleep rhythms, sensorimotor processing and attention. Can bind cholesterol in vitro (PubMed:36769003). {ECO:0000250|UniProtKB:Q14B62, ECO:0000269|PubMed:36769003}.
uniprot
proteins
mass_dalton
101341
uniprot
proteins
protein_family
Patched family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
20844286
uniprot
proteins
pubmed
25131214
uniprot
proteins
pubmed
25782667
uniprot
proteins
pubmed
26539891
uniprot
proteins
pubmed
33856728
uniprot
proteins
pubmed
36769003
uniprot
proteins
pubmed
38275824
uniprot
proteins
sequence_length
888
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20844286, ECO:0000269|PubMed:33856728}; Multi-pass membrane protein {ECO:0000269|PubMed:20844286}. Cell projection, dendritic spine {ECO:0000269|PubMed:33856728}.
uniprot
proteins
transmembrane_region
TRANSMEM 20..40; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 273..293; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 298..318; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 328..348; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 373..393; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 407..427; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 502..522; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 707..727; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 738..758; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 795..815; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 826..846; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins