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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 2.3.2.27 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 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.

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

Regulatory Elements for RNF170 Gene

Enhancers for RNF170 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H043054 1.2 ENCODE 10.9 -158.6 -158605 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 IKBKB HGSNAT ENSG00000254165 HOOK3 ENSG00000254673 ENSG00000254198 RNF170 POMK THAP1 FNTA
GH08H042789 1.2 Ensembl ENCODE 10.4 +107.6 107636 1 PKNOX1 ATF1 ARNT FEZF1 TCF12 ZNF766 ZNF207 ATF7 RUNX3 NCOA1 CHRNB3 LOC105379396 RNF170 HOOK3 CHRNA6 LOC100288666
GH08H042841 1.1 ENCODE 11.3 +55.1 55051 3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 HOOK3 RNF170 FNTA THAP1 CHRNA6
GH08H042805 1.1 Ensembl ENCODE 10.5 +92.5 92530 0 RB1 ARID4B ZNF2 RAD21 RFX5 ZNF143 RUNX3 CREM ZNF654 CEBPB LOC105379396 RNF170 HOOK3 CHRNA6 THAP1
GH08H042803 1 Ensembl ENCODE 10.5 +94.2 94198 1 HDGF PKNOX1 BACH1 BMI1 EED ATF7 ETV6 RUNX3 IKZF2 CREM LOC105379396 RNF170 HOOK3 CHRNA6 THAP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RNF170 on UCSC Golden Path with GeneCards custom track

Promoters for RNF170 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000224149 831 3001 FOXA2 ARID4B SIN3A DMAP1 GLIS2 ZNF143 ZNF207 KLF7 ATF7 RUNX3

Genomic Location for RNF170 Gene

Chromosome:
8
Start:
42,849,637 bp from pter
End:
42,897,931 bp from pter
Size:
48,295 bases
Orientation:
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:
    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

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • 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

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

COMPARTMENTS
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

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 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:

RNF170

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.

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
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • head
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with RNF170: view

Primer Products

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 33 34
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia RNF170 33 34
  • 93.54 (n)
cow
(Bos Taurus)
Mammalia RNF170 33 34
  • 91.99 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 88 (a)
OneToMany
-- 34
  • 78 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rnf170 33 16 34
  • 87.03 (n)
rat
(Rattus norvegicus)
Mammalia Rnf170 33
  • 86.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNF170 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF170 34 33
  • 78.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNF170 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf170 33
  • 70.33 (n)
Str.15438 33
zebrafish
(Danio rerio)
Actinopterygii rnf170 33 34
  • 62.69 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10685 33
worm
(Caenorhabditis elegans)
Secernentea Y38F1A.2 33 34
  • 45.74 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G22510 33
  • 47.5 (n)
rice
(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

ENSEMBL:
Gene Tree for RNF170 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs397514478 Pathogenic, Ataxia, sensory, 1, autosomal dominant (SNAX1) [MIM:608984] 42,856,341(-) TGTTT(C/T)GCATC intron-variant, nc-transcript-variant, reference, missense
rs587780441 Likely pathogenic 42,856,296(-) ATCTT(A/G)TATCA intron-variant, nc-transcript-variant, downstream-variant-500B, reference, missense
rs797045006 Uncertain significance 42,850,904(-) CAGTC(A/G)GATGC reference, missense
rs1000036965 -- 42,869,411(+) GATAC(C/T)AAGTA intron-variant
rs1000090660 -- 42,869,911(+) AAAAT(A/G)TGACA 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)

Relevant External Links for RNF170 Gene

Human Gene Mutation Database (HGMD)
RNF170
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF170

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

Disorders for RNF170 Gene

MalaCards: The human disease database

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

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

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNF170
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 60
  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 60
  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 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60

Products for RNF170 Gene

Sources for RNF170 Gene

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