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InnateDB Protein
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IDBP-20455.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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RNF170
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Protein Name
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ring finger protein 170
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000240159
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InnateDB Gene
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IDBG-20449 (RNF170)
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Protein Structure
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| Function |
E3 ubiquitin-protein ligase that plays an essential role in stimulus-induced inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) ubiquitination and degradation via the endoplasmic reticulum-associated degradation (ERAD) pathway. Also involved in ITPR1 turnover in resting cells. {ECO:0000269PubMed:21610068}.
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| Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
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| Disease Associations |
Ataxia, sensory, 1, autosomal dominant (SNAX1) [MIM:608984]: A rare disease characterized by progressive ataxia caused by degeneration of the posterior columns of the spinal cord. Affected individuals have a reduced ability to feel pain, temperature and vibration, particularly in the hands and feet. Their most prominent feature is an ataxic gait resulting from a severe loss of proprioception. Thus, patients rely on visual cues for maintaining proper body posture, such that they are unable to remain upright if their eyes are closed (Romberg sign). {ECO:0000269PubMed:21115467}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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| Tissue Specificity |
Expressed in the spinal chord. {ECO:0000269PubMed:21115467}.
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| Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
| Experimentally validated |
| Total |
2
[view]
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| Protein-Protein |
2
[view]
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| Protein-DNA |
0
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| Protein-RNA |
0
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| DNA-DNA |
0
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| RNA-RNA |
0
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| DNA-RNA |
0
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| Predicted by orthology |
| Total |
2 [view]
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Molecular Function |
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| Biological Process |
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| Cellular Component |
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| PDB ID |
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| InterPro |
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| PFAM |
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| PRINTS |
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| PIRSF |
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| SMART |
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| TIGRFAMs |
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| Modification |
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| SwissProt |
Q96K19
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| PhosphoSite |
PhosphoSite-Q96K19
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| TrEMBL |
E9PNG8
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| UniProt Splice Variant |
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| Entrez Gene |
81790
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| UniGene |
Hs.629385
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| RefSeq |
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| HUGO |
HGNC:25358
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| OMIM |
614649
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| CCDS |
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| HPRD |
13165
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| IMGT |
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| EMBL |
AC009634
AC087533
AF209504
AK027748
AK090864
AL136620
BC013422
BC032393
BC039461
BC044566
BC058289
CH471080
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| GenPept |
AAH13422
AAH32393
AAH39461
AAH44566
AAM92891
BAB55340
BAC03534
CAB66555
EAW63201
EAW63203
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