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Aliases for RNF170 Gene

Aliases for RNF170 Gene

  • Ring Finger Protein 170 2 3
  • Putative LAG1-Interacting Protein 3 4
  • SNAX1 3 6
  • Sensory Ataxia 1 (Autosomal Dominant) 2
  • E3 Ubiquitin-Protein Ligase RNF170 3
  • RING Finger Protein 170 4
  • EC 6.3.2.- 4
  • ADSA 3

External Ids for RNF170 Gene

Previous Symbols for RNF170 Gene

  • SNAX1

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 ataxia. 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.

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

Genomics for RNF170 Gene

Genomic Location for RNF170 Gene

Start:
42,849,637 bp from pter
End:
42,897,290 bp from pter
Size:
47,654 bases
Orientation:
Minus strand

Genomic View for RNF170 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RNF170 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF170 Gene

Regulatory Elements for RNF170 Gene

Proteins for RNF170 Gene

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

    Protein Symbol:
    Q96K19-RN170_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF170
    Protein Accession:
    Q96K19
    Secondary Accessions:
    • D3DSY6
    • E9PIL4
    • Q7Z483
    • Q86YC0
    • Q8IXR7
    • Q8N2B5
    • Q8N5G9
    • Q8NG30
    • Q9H0V6

    Protein attributes for RNF170 Gene

    Size:
    258 amino acids
    Molecular mass:
    29815 Da
    Quaternary structure:
    • Constitutively associated with the ERLIN1/ERLIN 2 complex. Interacts with activated ITPR1.
    SequenceCaution:
    • 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

Proteomics data for RNF170 Gene at MOPED

Post-translational modifications for RNF170 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys3

No data available for DME Specific Peptides for RNF170 Gene

Domains for RNF170 Gene

Gene Families for RNF170 Gene

HGNC:
  • RNF :RING-type (C3HC4) zinc fingers

Protein Domains for RNF170 Gene

Suggested Antigen Peptide Sequences for RNF170 Gene

Graphical View of Domain Structure for InterPro Entry

Q96K19

UniProtKB/Swiss-Prot:

RN170_HUMAN
Similarity:
  • Contains 1 RING-type zinc finger.:
    • Q96K19
genes like me logo Genes that share domains with RNF170: view

Function for RNF170 Gene

Molecular function for RNF170 Gene

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:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
GO:0046872 metal ion binding --
genes like me logo Genes that share ontologies with RNF170: view
genes like me logo Genes that share phenotypes with RNF170: view

miRNA for RNF170 Gene

miRTarBase miRNAs that target RNF170

No data available for Animal Models , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for RNF170 Gene COMPARTMENTS Subcellular localization image for RNF170 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
lysosome 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RNF170 Gene

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

Pathways 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 for RNF170 Gene

Transcripts for RNF170 Gene

Unigene Clusters for RNF170 Gene

Ring finger protein 170:
Representative Sequences:

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9
SP1:
SP2: -
SP3: - -
SP4: - - - -

Relevant External Links for RNF170 Gene

GeneLoc Exon Structure for
RNF170
ECgene alternative splicing isoforms for
RNF170

Expression for RNF170 Gene

mRNA expression in normal human tissues for RNF170 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RNF170 Gene

SOURCE GeneReport for Unigene cluster for RNF170 Gene Hs.491626

mRNA Expression by UniProt/SwissProt for RNF170 Gene

Q96K19-RN170_HUMAN
Tissue specificity: Expressed in the spinal chord.
genes like me logo Genes that share expressions 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
chimpanzee
(Pan troglodytes)
Mammalia RNF170 35
  • 99.61 (n)
  • 98.84 (a)
RNF170 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RNF170 35
  • 91.99 (n)
  • 95.35 (a)
RNF170 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RNF170 35
  • 93.54 (n)
  • 96.9 (a)
RNF170 36
  • 39 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnf170 35
  • 87.03 (n)
  • 91.05 (a)
Rnf170 16
Rnf170 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 88 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia RNF170 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnf170 35
  • 86.77 (n)
  • 91.44 (a)
chicken
(Gallus gallus)
Aves RNF170 35
  • 78.26 (n)
  • 81.25 (a)
RNF170 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNF170 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf170 35
  • 70.33 (n)
  • 72.16 (a)
Str.15438 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10685 35
zebrafish
(Danio rerio)
Actinopterygii rnf170 35
  • 62.69 (n)
  • 67.9 (a)
rnf170 36
  • 61 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y38F1A.2 35
  • 45.74 (n)
  • 36.7 (a)
Y38F1A.2 36
  • 27 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G22510 35
  • 47.5 (n)
  • 38.32 (a)
rice
(Oryza sativa)
Liliopsida Os03g0839000 35
  • 48.26 (n)
  • 34.3 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7977 35
Species with no ortholog for RNF170:
  • 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

ENSEMBL:
Gene Tree for RNF170 (if available)
TreeFam:
Gene Tree for RNF170 (if available)

Paralogs for RNF170 Gene

Selected 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 Sequence Context AA Info Type MAF
rs773069 -- 42,894,545(-) CCTGT(G/T)TTTGG intron-variant
rs2570617 -- 42,883,566(-) tctga(A/G)acaga intron-variant
rs2570618 -- 42,883,529(-) tgcag(G/T)ggccc intron-variant
rs2570619 -- 42,883,525(-) ggggc(C/G)caatc intron-variant
rs2570620 -- 42,883,415(-) attCA(A/G)accat intron-variant

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

Variant ID Type Subtype PubMed ID
nsv890846 CNV Gain 21882294
nsv6171 CNV Insertion 18451855
esv2628601 CNV Insertion 19546169
nsv512953 CNV Insertion 21212237

Relevant External Links for RNF170 Gene

HapMap Linkage Disequilibrium report
RNF170
Human Gene Mutation Database (HGMD)
RNF170

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

Disorders for RNF170 Gene

(1) OMIM Diseases for RNF170 Gene (614649)

UniProtKB/Swiss-Prot

RN170_HUMAN
  • 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.

Relevant External Links for RNF170

Genetic Association Database (GAD)
RNF170
Human Genome Epidemiology (HuGE) Navigator
RNF170
genes like me logo Genes that share disorders with RNF170: view

Publications for RNF170 Gene

  1. Towards 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 Res. 2001) 2 3 4
  2. A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. (PMID: 21115467) Valdmanis P.N. … Rouleau G.A. (Brain 2011) 2 3 4
  3. RNF170 protein, an endoplasmic reticulum membrane ubiquitin ligase, mediates inositol 1,4,5-trisphosphate receptor ubiquitination and degradation. (PMID: 21610068) Lu J.P. … Wojcikiewicz R.J. (J. Biol. Chem. 2011) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for RNF170 Gene

Sources for RNF170 Gene

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