| Gene Information | |
|---|---|
| Gene Name | USH1F |
| Organism | Homo sapiens (Human) |
| Gene Length | 1955 |
| Protein Names | Protocadherin-15 |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q96QU1 |
| Gene Card | PCDH15 |
| Uniprot ID | Q96QU1 |
| Pfam | PF00028; PF18432 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in brain, lung, kidney, spleen and testis. Found also in the inner and outer synaptic layers, and the nerve fiber layer in adult and fetal retinas. Found in the supporting cells, outer sulcus cells and spiral ganglion of fetal cochlea. Expressed in cytotoxic tumor-derived T- and NK-cell lines as well as biopsies of nasal NK/T-cell lymphomas. Not detected in normal or in vitro activated peripheral blood cells, CD4 or CD8 lymphocytes or NK cells. Isoform 3 is expressed in brain, heart, cerebellum and kidney. CD1 isoforms, such as isoform 1, have a limited pattern of expression and is detected in testis, retina and cochlea. CD2 isoforms, such as isoforms 4 and 5, are expressed in heart, kidney, thymus, spleen, testis, retina and cochlea. CD3 isoforms, such as isoform 6, are widely expressed. {ECO:0000269|PubMed:11487575, ECO:0000269|PubMed:16369489, ECO:0000269|PubMed:18719945}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 4XHZ (X-ray 2.80A ) 5T4M (X-ray 2.24A ) 5T4N (X-ray 2.70A ) 5ULY (X-ray 2.64A ) 6E8F (X-ray 2.99A ) 6EB5 (X-ray 2.60A ) 6MFO (X-ray 3.15A ) 6N2E (X-ray 2.90A ) |
| DBSNP | rs11004439 rs137853003 rs767966376 rs145037203 rs137853002 rs10825269 rs4935502 rs2135720 rs111033363 rs61731387 rs11003863 |
| Subcellular location [CC] | Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Efficient localization to the plasma membrane requires the presence of LHFPL5. {ECO:0000250}.; [Isoform 3]: Secreted. |
| Mouse PG classification | NA |
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