Homo sapiens Protein: RNF170
Summary
InnateDB Protein IDBP-20455.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RNF170
Protein Name ring finger protein 170
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000240159
InnateDB Gene IDBG-20449 (RNF170)
Protein Structure
UniProt Annotation
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}.
Subcellular Localization Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
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.
Tissue Specificity Expressed in the spinal chord. {ECO:0000269PubMed:21115467}.
Comments
Interactions
Number of Interactions 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]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0008270 zinc ion binding
GO:0016874 ligase activity
Biological Process
GO:0016567 protein ubiquitination
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96K19
PhosphoSite PhosphoSite-Q96K19
TrEMBL E9PNG8
UniProt Splice Variant
Entrez Gene 81790
UniGene Hs.629385
RefSeq
HUGO HGNC:25358
OMIM 614649
CCDS
HPRD 13165
IMGT
EMBL AC009634 AC087533 AF209504 AK027748 AK090864 AL136620 BC013422 BC032393 BC039461 BC044566 BC058289 CH471080
GenPept AAH13422 AAH32393 AAH39461 AAH44566 AAM92891 BAB55340 BAC03534 CAB66555 EAW63201 EAW63203