======= PTCHD1 ======= == Gene Information == * **Official Symbol**: PTCHD1 * **Official Name**: patched domain containing 1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=139411|139411]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q96NR3|Q96NR3]] * **Interactions**: [[https://thebiogrid.org/search.php?search=PTCHD1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PTCHD1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/300828|Open OMIM]] == Function Summary == * **Entrez Summary**: This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011]. * **UniProt Summary**: 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. {ECO:0000250|UniProtKB:Q14B62}. |Patched| |Sterol-sensing| |thalamus development| |intraspecies interaction between organisms| |social behavior| |multi-organism behavior| |smoothened signaling pathway| |diencephalon development| |cognition| |forebrain development| |behavior| |brain development| |molecular function| |head development| |central nervous system development| |nervous system process| |system process| \\ === CRISPR Data === No hits were found. No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/694 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/26| |bone|0/26| |breast|0/30| |central nervous system|0/49| |cervix|0/4| |colorectal|0/17| |esophagus|0/11| |fibroblast|0/1| |gastric|0/14| |kidney|0/18| |liver|0/19| |lung|0/72| |lymphocyte|0/16| |ovary|0/25| |pancreas|0/22| |peripheral nervous system|0/15| |plasma cell|0/12| |prostate|0/1| |skin|0/20| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/28| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 18230 * **Expression level (log2 read counts)**: 2.52 {{:chemogenomics:nalm6 dist.png?nolink |}}