Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RNF170 Gene

Aliases for RNF170 Gene

  • Ring Finger Protein 170 2 3
  • RING-Type E3 Ubiquitin Transferase RNF170 3 4
  • Putative LAG1-Interacting Protein 3 4
  • RING Finger Protein 170 4 5
  • Sensory Ataxia 1 (Autosomal Dominant) 2
  • E3 Ubiquitin-Protein Ligase RNF170 3
  • EC 4
  • SNAX1 3
  • ADSA 3

External Ids for RNF170 Gene

Previous HGNC Symbols for RNF170 Gene

  • SNAX1

Previous GeneCards Identifiers for RNF170 Gene

  • GC08M042705
  • GC08M041227

Summaries for RNF170 Gene

Entrez Gene Summary for RNF170 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 ER-associated protein degradation pathway. It is recruited to the activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this gene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

GeneCards Summary for RNF170 Gene

RNF170 (Ring Finger Protein 170) is a Protein Coding gene. Diseases associated with RNF170 include Ataxia, Sensory, 1, Autosomal Dominant and Posterior Column Ataxia. Gene Ontology (GO) annotations related to this gene include ligase activity.

UniProtKB/Swiss-Prot for RNF170 Gene

  • 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.

Additional gene information for RNF170 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF170 Gene

Genomics for RNF170 Gene

GeneHancer (GH) Regulatory Elements for RNF170 Gene

Promoters and enhancers for RNF170 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I042893 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 550.8 +2.0 1986 5.9 PKNOX1 CLOCK FOXA2 ARID4B NEUROD1 SIN3A DMAP1 YY1 POLR2B ZNF766 HOOK3 MIR4469 RNF170 THAP1 FNTA PIR47842
GH08I042841 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.3 +55.1 55050 3.5 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 THAP1 HOOK3 IKBKB KAT6A RNF170 FNTA CHRNA6
GH08I043054 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.9 -158.6 -158605 4 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D ZNF610 GLIS1 FNTA IKBKB HGSNAT ENSG00000254165 HOOK3 ENSG00000254673 ENSG00000254198 RNF170 POMK THAP1
GH08I042194 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +700.7 700674 6.5 FOXA2 ATF1 SIN3A ZNF2 ZNF48 YY1 ATF7 FOS SP5 JUNB AP3M2 RNF170 POLB SMIM19 PLAT PIR61234
GH08I042789 Enhancer 1.1 Ensembl ENCODE 10.4 +107.6 107636 1.7 PKNOX1 ATF1 ARNT FEZF1 IRF4 NCOA2 TCF12 ZNF766 ZNF207 ATF7 CHRNB3 LOC105379396 HOOK3 RNF170 CHRNA6 LOC100288666
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RNF170 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RNF170 gene promoter:

Genomic Locations for RNF170 Gene

Genomic Locations for RNF170 Gene
48,295 bases
Minus strand

Genomic View for RNF170 Gene

Genes around RNF170 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF170 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF170 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF170 Gene

Proteins for RNF170 Gene

  • Protein details for RNF170 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    E3 ubiquitin-protein ligase RNF170
    Protein Accession:
    Secondary Accessions:
    • D3DSY6
    • E9PIL4
    • Q7Z483
    • Q86YC0
    • Q8IXR7
    • Q8N2B5
    • Q8N5G9
    • Q8NG30
    • Q9H0V6

    Protein attributes for RNF170 Gene

    258 amino acids
    Molecular mass:
    29815 Da
    Quaternary structure:
    • Constitutively associated with the ERLIN1/ERLIN 2 complex. Interacts with activated ITPR1.
    • Sequence=AAH39461.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH44566.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for RNF170 Gene

neXtProt entry for RNF170 Gene

Post-translational modifications for RNF170 Gene

  • Ubiquitination at isoforms=2, 3, 53
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RNF170 Gene

Domains & Families for RNF170 Gene

Gene Families for RNF170 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for RNF170 Gene

Suggested Antigen Peptide Sequences for RNF170 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RNF170: view

No data available for UniProtKB/Swiss-Prot for RNF170 Gene

Function for RNF170 Gene

Molecular function for RNF170 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for RNF170 Gene

Gene Ontology (GO) - Molecular Function for RNF170 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RNF170: view
genes like me logo Genes that share phenotypes with RNF170: view

Human Phenotype Ontology for RNF170 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for RNF170

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for RNF170 Gene

Localization for RNF170 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF170 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNF170 gene
Compartment Confidence
plasma membrane 3
endoplasmic reticulum 3
peroxisome 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for RNF170 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RNF170: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RNF170 Gene

Pathways & Interactions for RNF170 Gene

SuperPathways for RNF170 Gene

No Data Available

UniProtKB/Swiss-Prot Q96K19-RN170_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF170 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with RNF170: view

No data available for Pathways by source and SIGNOR curated interactions for RNF170 Gene

Drugs & Compounds for RNF170 Gene

No Compound Related Data Available

Transcripts for RNF170 Gene

Unigene Clusters for RNF170 Gene

Ring finger protein 170:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF170 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9
SP2: -
SP3: - -
SP4: - - - -

Relevant External Links for RNF170 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RNF170 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNF170 Gene

Protein differential expression in normal tissues from HIPED for RNF170 Gene

This gene is overexpressed in Nasal epithelium (31.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RNF170 Gene

Protein tissue co-expression partners for RNF170 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RNF170 Gene:


SOURCE GeneReport for Unigene cluster for RNF170 Gene:


mRNA Expression by UniProt/SwissProt for RNF170 Gene:

Tissue specificity: Expressed in the spinal chord.

Evidence on tissue expression from TISSUES for RNF170 Gene

  • Nervous system(4.6)
  • Lung(4.3)
  • Pancreas(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF170 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • head
  • foot
  • lower limb
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with RNF170: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RNF170 Gene

Orthologs for RNF170 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RNF170 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RNF170 33 34
  • 99.61 (n)
(Canis familiaris)
Mammalia RNF170 33 34
  • 93.54 (n)
(Bos Taurus)
Mammalia RNF170 33 34
  • 91.99 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 88 (a)
-- 34
  • 78 (a)
(Mus musculus)
Mammalia Rnf170 16 34 33
  • 87.03 (n)
(Rattus norvegicus)
Mammalia Rnf170 33
  • 86.77 (n)
(Ornithorhynchus anatinus)
Mammalia RNF170 34
  • 76 (a)
(Gallus gallus)
Aves RNF170 34 33
  • 78.26 (n)
(Anolis carolinensis)
Reptilia RNF170 34
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf170 33
  • 70.33 (n)
Str.15438 33
(Danio rerio)
Actinopterygii rnf170 34 33
  • 62.69 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10685 33
(Caenorhabditis elegans)
Secernentea Y38F1A.2 33 34
  • 45.74 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G22510 33
  • 47.5 (n)
(Oryza sativa)
Liliopsida Os03g0839000 33
  • 48.26 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7977 33
Species where no ortholog for RNF170 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RNF170 Gene

Gene Tree for RNF170 (if available)
Gene Tree for RNF170 (if available)

Paralogs for RNF170 Gene

(3) SIMAP similar genes for RNF170 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with RNF170: view

No data available for Paralogs for RNF170 Gene

Variants for RNF170 Gene

Sequence variations from dbSNP and Humsavar for RNF170 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs397514478 pathogenic, Ataxia, sensory, autosomal dominant, Ataxia, sensory, 1, autosomal dominant (SNAX1) [MIM:608984] 42,856,341(-) G/A coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs587780441 likely-pathogenic, Ataxia, sensory, autosomal dominant 42,856,296(-) T/C coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs797045006 uncertain-significance, Ataxia, sensory, autosomal dominant 42,850,904(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1000036965 -- 42,869,411(-) T/C intron_variant
rs1000090660 -- 42,869,911(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RNF170 Gene

Variant ID Type Subtype PubMed ID
esv2628601 CNV insertion 19546169
nsv1129804 CNV tandem duplication 24896259
nsv483102 CNV loss 15286789
nsv512953 CNV insertion 21212237
nsv6171 CNV insertion 18451855

Variation tolerance for RNF170 Gene

Residual Variation Intolerance Score: 50.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.13; 22.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNF170 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF170 Gene

Disorders for RNF170 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RNF170 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
ataxia, sensory, 1, autosomal dominant
  • snax1
posterior column ataxia
  • biemond ataxia
- elite association - COSMIC cancer census association via MalaCards


  • 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:0000269 PubMed:21115467}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RNF170

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RNF170: view

No data available for Genatlas for RNF170 Gene

Publications for RNF170 Gene

  1. A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. (PMID: 21115467) Valdmanis PN … Rouleau GA (Brain : a journal of neurology 2011) 2 3 4 58
  2. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 58
  3. RNF170 protein, an endoplasmic reticulum membrane ubiquitin ligase, mediates inositol 1,4,5-trisphosphate receptor ubiquitination and degradation. (PMID: 21610068) Lu JP … Wojcikiewicz RJ (The Journal of biological chemistry 2011) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for RNF170 Gene

Sources for RNF170 Gene

Loading form....