Version 5.4
| Homo sapiens Protein: ASB10 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Protein | IDBP-49304.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | ASB10 | ||||||||||||||||||
| Protein Name | ankyrin repeat and SOCS box containing 10 | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Protein | ENSP00000367098 | ||||||||||||||||||
| InnateDB Gene | IDBG-49302 (ASB10) | ||||||||||||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||||||||||||
| Function | May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. {ECO:0000250}. | ||||||||||||||||||
| Subcellular Localization | Cytoplasm {ECO:0000269PubMed:22156576}. Nucleus {ECO:0000269PubMed:22156576}. Note=In the ciliary body, it is detected in the cytoplasm and perinuclear region of the pigmented ciliary epithelial layer. In the retina, it is detected in the nuclei of retinal ganglion cells. | ||||||||||||||||||
| Disease Associations | Glaucoma 1, open angle, F (GLC1F) [MIM:603383]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. {ECO:0000269PubMed:22156576}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
| Tissue Specificity | Expressed in the eye. The highest expression is observed in the iris, with moderate levels in the trabecular meshwork (TM), the lamina, and the optic nerve; slightly lower levels in the ciliary body, retina, and choroid; and very low levels in the lens. {ECO:0000269PubMed:22156576}. | ||||||||||||||||||
| Comments | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 27 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||||||||||||
| PDB ID | |||||||||||||||||||
| InterPro |
IPR001496
SOCS protein, C-terminal IPR002110 Ankyrin repeat IPR020683 Ankyrin repeat-containing domain |
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| PFAM |
PF07525
PF00023 PF13606 PF11929 PF12796 |
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| PRINTS |
PR01415
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| PIRSF | |||||||||||||||||||
| SMART |
SM00253
SM00969 SM00248 |
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| TIGRFAMs | |||||||||||||||||||
| Post-translational Modifications | |||||||||||||||||||
| Modification | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q8WXI3 | ||||||||||||||||||
| PhosphoSite | PhosphoSite-Q8WXI3 | ||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 136371 | ||||||||||||||||||
| UniGene | Hs.647081 | ||||||||||||||||||
| RefSeq | NP_543147 | ||||||||||||||||||
| HUGO | HGNC:17185 | ||||||||||||||||||
| OMIM | 615054 | ||||||||||||||||||
| CCDS | CCDS5921 | ||||||||||||||||||
| HPRD | |||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AC010973 AF417920 AK125565 BC126351 | ||||||||||||||||||
| GenPept | AAI26352 AAL59159 BAC86204 | ||||||||||||||||||