| Gene Information | |
|---|---|
| Gene Name | NHS |
| Organism | Homo sapiens (Human) |
| Gene Length | 1651 |
| Protein Names | Actin remodeling regulator NHS (Congenital cataracts and dental anomalies protein) (Nance-Horan syndrome protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000188158 ) |
| Evolutionary Stage | Vertebrata |
| AlphaFoldDB | Q6T4R5 |
| Gene Card | NHS |
| Uniprot ID | Q6T4R5 |
| Pfam | PF15273 |
| In ASD | no |
| Allosteric Prediction | no (-1.208987914) |
| Ortholog in Animals | Alpaca_ NHS ( ortholog_one2one ) Dog_ NHS ( ortholog_one2one ) GuineaPig_ NHS ( ortholog_one2one ) Macaque_ NHS ( ortholog_one2one ) Mouse_ Nhs ( ortholog_one2one ) Pig_ NHS ( ortholog_one2one ) Rat_ Nhs ( ortholog_one2one ) Rabbit_ NHS ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NHSL2, KIAA1522, NHSL1 |
| Tissue | NA |
| Tissue Specificity | Detected at low levels in all tissues analyzed. Detected in fetal and adult brain, lens, retina, retinal pigment epithelium, placenta, lymphocytes and fibroblasts. Levels in retinal pigment epithelium, placenta, lymphocytes, and fibroblasts are very low. Expressed also in kidney, lung and thymus. {ECO:0000269|PubMed:14564667, ECO:0000269|PubMed:15466011}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs753449273 rs149609550 rs3747295 rs2071848 rs2071848 |
| Subcellular location [CC] | [Isoform 1]: Apical cell membrane; Peripheral membrane protein. Cell projection, lamellipodium. Cell junction, tight junction. Cell junction, focal adhesion. Note=Colocalizes with the tight junction protein TJP1 in epithelial cells. Localizes to the leading edge of lamellipodia in motile cells.; [Isoform 3]: Cytoplasm. |
| Mouse PG classification | NA |
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