| Gene Information | |
|---|---|
| Gene Name | USH1G |
| Organism | Homo sapiens (Human) |
| Gene Length | 461 |
| Protein Names | pre-mRNA splicing regulator USH1G (Scaffold protein containing ankyrin repeats and SAM domain) (Usher syndrome type-1G protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 886 ( ENSG00000182040 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | Q495M9 |
| Gene Card | USH1G |
| Uniprot ID | Q495M9 |
| Pfam | PF12796; PF00536 |
| In ASD | no |
| Allosteric Prediction | no (-1.393321291) |
| Ortholog in Animals | Alpaca_ USH1G ( ortholog_one2one ) Dog_ USH1G ( ortholog_one2one ) GuineaPig_ USH1G ( ortholog_one2one ) Macaque_ USH1G ( ortholog_one2one ) Mouse_ Ush1g ( ortholog_one2one ) Pig_ USH1G ( ortholog_one2one ) Rat_ Ush1g ( ortholog_one2one ) |
| Ohnologs | ANKS4B |
| Paralogs | ANKS4B |
| Tissue | NA |
| Tissue Specificity | Expressed in vestibule of the inner ear, eye and small intestine. {ECO:0000269|PubMed:12588794}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.001000(Rat);NULL(Rabbit) |
| 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 | 2L7T (NMR - ) 3K1R (X-ray 2.30A ) 3PVL (X-ray 2.80A ) |
| DBSNP | rs104894651 rs149529031 rs397517925 |
| Subcellular location [CC] | Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell membrane {ECO:0000250|UniProtKB:Q80T11}; Peripheral membrane protein {ECO:0000305}. Cell projection, cilium {ECO:0000250|UniProtKB:Q80T11}. Nucleus speckle {ECO:0000269|PubMed:34023904}. Nucleus, Cajal body {ECO:0000269|PubMed:34023904}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q80T11}. Photoreceptor inner segment {ECO:0000250|UniProtKB:Q80T11}. Note=Detected at the tip of cochlear hair cell stereocilia. Recruited to the cell membrane via interaction with CDH23 or PCDH15 (By similarity). In photoreceptor cilia, detected predominantly at the cilium base (By similarity). Expressed in the pericentriolar region of the centrosome (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:Q80T11}. |
| Mouse PG classification | NA |
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