Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81790
Gene name Gene Name - the full gene name approved by the HGNC.
Ring finger protein 170
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RNF170
Synonyms (NCBI Gene) Gene synonyms aliases
ADSA, SNAX1, SPG85
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SNAX1, SPG85
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p11.21
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs397514478 G>A Pathogenic Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs587780441 T>C Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021592 hsa-miR-142-3p Microarray 17612493
MIRT023233 hsa-miR-122-5p Microarray 17612493
MIRT040795 hsa-miR-18a-3p CLASH 23622248
MIRT666530 hsa-miR-3664-5p HITS-CLIP 23824327
MIRT666529 hsa-miR-1306-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0016021 Component Integral component of membrane IEA
GO:0016567 Process Protein ubiquitination IEA
GO:0046872 Function Metal ion binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614649 25358 ENSG00000120925
Protein
UniProt ID Q96K19
Protein name E3 ubiquitin-protein ligase RNF170 (EC 2.3.2.27) (Putative LAG1-interacting protein) (RING finger protein 170) (RING-type E3 ubiquitin transferase RNF170)
Protein 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 i
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00097 zf-C3HC4 87 129 Zinc finger, C3HC4 type (RING finger) Domain
PF06803 DUF1232 202 239 Protein of unknown function (DUF1232) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the spinal cord. {ECO:0000269|PubMed:21115467}.
Sequence
MAKYQGEVQSLKLDDDSVIEGVSDQVLVAVVVSFALIATLVYALFRNVHQNIHPENQELV
RVLREQLQTEQDAPAATRQQFYTDMYCPICLHQASFPVETNCGHLFCGACIIAYWRYGSW
LGAISCPIC
RQTVTLLLTVFGEDDQSQDVLRLHQDINDYNRRFSGQPRSIMERIMDLPTL
LRHAFREMFSVGGLFWMFRIRIILCLMGAFFYLISPLDFVPEALFGILGFLDDFFVIFLL
LIYISIMYREVITQRLTR
Sequence length 258
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Ataxia ATAXIA, SENSORY, AUTOSOMAL DOMINANT rs606231134, rs119103243, rs119103244, rs119103245, rs606231135, rs119468005, rs119468006, rs387906298, rs606231138, rs606231139, rs119468008, rs387906299, rs606231292, rs1553281318, rs794727986
View all (52 more)
21115467
Unknown
Disease term Disease name Evidence References Source
Spastic Paraplegia spastic paraplegia 85, autosomal recessive GenCC
Associations from Text Mining
Disease Name Relationship Type References
Ataxia Associate 34469621
Ataxia Sensory Autosomal Dominant Associate 34469621
Metabolic Syndrome Associate 37138862
Neurodegenerative Diseases Associate 31874412
Osteoarthritis Associate 37138862
Pallidopyramidal syndrome Associate 34469621
Spastic Paraplegia Hereditary Associate 31874412, 34469621