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Aliases for MIR4469 Gene

Subcategory (RNA class) for MIR4469 Gene

miRNA

Quality Score for this RNA gene is

3

Aliases for MIR4469 Gene

  • MicroRNA 4469 2 3
  • RING Finger Protein 170 4 5
  • RNF170 4 5
  • Putative LAG1-Interacting Protein 4
  • Hsa-Mir-4469 3
  • EC 6.3.2.- 4
  • Mir-4469 3

External Ids for MIR4469 Gene

Previous GeneCards Identifiers for MIR4469 Gene

  • GC08U901572
  • GC08M042753
  • GC08M042896

Summaries for MIR4469 Gene

Entrez Gene Summary for MIR4469 Gene

  • microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]

GeneCards Summary for MIR4469 Gene

MIR4469 (MicroRNA 4469) is an RNA Gene, and is affiliated with the miRNA class. Diseases associated with MIR4469 include Ataxia, Sensory, 1, Autosomal Dominant.

UniProtKB/Swiss-Prot for MIR4469 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 MIR4469 Gene

Genomics for MIR4469 Gene

Regulatory Elements for MIR4469 Gene

Enhancers for MIR4469 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
GH08F042802 1.3 Ensembl ENCODE 10.5 +92.9 92890 3.2 HDGF PKNOX1 MLX ARID4B ZNF2 ZNF48 ZNF143 SP5 MXD4 MIER2 LOC105379396 HOOK3 RNF170 MIR4469 CHRNA6 THAP1
GH08F043054 1.2 ENCODE 10.9 -159.2 -159246 4.0 PKNOX1 ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 HOOK3 IKBKB ENSG00000254673 ENSG00000254198 HGSNAT MIR4469 RNF170 POMK THAP1 FNTA
GH08F042788 1.2 Ensembl ENCODE 10.4 +107.4 107390 2.6 TBP HDAC1 PKNOX1 ATF1 TBL1XR1 ARNT NFRKB FEZF1 ETV6 CREM CHRNB3 LOC105379396 HOOK3 MIR4469 RNF170 CHRNA6 LOC100288666
GH08F042841 1.1 ENCODE 11.3 +54.4 54410 3.5 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ENSG00000254165 HOOK3 IKBKB MIR4469 RNF170 KAT6A FNTA THAP1 CHRNA6
GH08F042856 0.9 Ensembl ENCODE 11.3 +40.1 40097 1.8 ZBED1 JUN JUNB GABPA JUND CBX5 IKZF1 TCF7 ETV6 FOS HOOK3 MIR4469 RNF170 FNTA THAP1 RN7SL806P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MIR4469 on UCSC Golden Path with GeneCards custom track

Promoters for MIR4469 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001390986 190 3401 HDGF ARID4B SIN3A DMAP1 ZNF48 GLIS2 ZNF143 ZNF207 KLF7 KLF13

Genomic Location for MIR4469 Gene

Chromosome:
8
Start:
42,849,637 bp from pter
End:
42,897,290 bp from pter
Size:
47,654 bases
Orientation:
Minus strand

Genomic View for MIR4469 Gene

Genes around MIR4469 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIR4469 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIR4469 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIR4469 Gene

Proteins for MIR4469 Gene

  • Protein details for MIR4469 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 MIR4469 Gene

    Size:
    258 amino acids
    Molecular mass:
    29815 Da
    Quaternary structure:
    • Constitutively associated with the ERLIN1/ERLIN 2 complex. Interacts with activated ITPR1.
    • 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 MIR4469 Gene

neXtProt entry for MIR4469 Gene

Post-translational modifications for MIR4469 Gene

  • Ubiquitination at Lys 3
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MIR4469 Gene

Domains & Families for MIR4469 Gene

Gene Families for MIR4469 Gene

Protein Domains for MIR4469 Gene

Graphical View of Domain Structure for InterPro Entry

Q96K19

UniProtKB/Swiss-Prot:

RN170_HUMAN :
  • Contains 1 RING-type zinc finger.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with MIR4469: view

No data available for Suggested Antigen Peptide Sequences for MIR4469 Gene

Function for MIR4469 Gene

Molecular function for MIR4469 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 MIR4469 Gene

Gene Ontology (GO) - Molecular Function for MIR4469 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MIR4469: view

Animal Model Products

miRNA Products

Clone Products

Flow Cytometry Products

No data available for Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MIR4469 Gene

Localization for MIR4469 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIR4469 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for MIR4469 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 MIR4469: view

No data available for Subcellular locations from COMPARTMENTS for MIR4469 Gene

Pathways & Interactions for MIR4469 Gene

SuperPathways for MIR4469 Gene

No Data Available

UniProtKB/Swiss-Prot Q96K19-RN170_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for MIR4469 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with MIR4469: view

No data available for Pathways by source and SIGNOR curated interactions for MIR4469 Gene

Transcripts for MIR4469 Gene

mRNA/cDNA for MIR4469 Gene

(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

miRNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MIR4469 Gene

No ASD Table

Relevant External Links for MIR4469 Gene

GeneLoc Exon Structure for
MIR4469
ECgene alternative splicing isoforms for
MIR4469

Expression for MIR4469 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MIR4469 Gene

NURSA nuclear receptor signaling pathways regulating expression of MIR4469 Gene:

MIR4469

mRNA Expression by UniProt/SwissProt for MIR4469 Gene:

Q96K19-RN170_HUMAN
Tissue specificity: Expressed in the spinal chord.
genes like me logo Genes that share expression patterns with MIR4469: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for MIR4469 Gene

Orthologs for MIR4469 Gene

This gene was present in the common ancestor of animals.

Orthologs for MIR4469 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF170 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RNF170 35
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 88 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rnf170 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RNF170 35
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RNF170 35
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF170 35
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNF170 35
  • 75 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rnf170 35
  • 61 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y38F1A.2 35
  • 27 (a)
OneToOne
Species where no ortholog for MIR4469 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MIR4469 Gene

ENSEMBL:
Gene Tree for MIR4469 (if available)
TreeFam:
Gene Tree for MIR4469 (if available)

Paralogs for MIR4469 Gene

No data available for Paralogs for MIR4469 Gene

Variants for MIR4469 Gene

Sequence variations from dbSNP and Humsavar for MIR4469 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs111621501 -- 42,896,084(+) TCGCC(A/T)TTAAG intron-variant, downstream-variant-500B, upstream-variant-2KB
rs112219235 -- 42,897,419(+) GCGGG(C/T)GACTC intron-variant, upstream-variant-2KB
rs113969303 -- 42,897,263(+) GCCCG(G/T)GGGGC intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs116884520 -- 42,898,009(+) GAGAA(C/T)GTTAA intron-variant, upstream-variant-2KB
rs138791844 -- 42,895,820(+) TAGAT(A/G/T)GTAAA intron-variant, downstream-variant-500B, upstream-variant-2KB

Relevant External Links for MIR4469 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIR4469

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MIR4469 Gene

Disorders for MIR4469 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MIR4469 Gene - From: GeneCards

Disorder Aliases PubMed IDs
ataxia, sensory, 1, autosomal dominant
  • adsa
- 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 MIR4469

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIR4469
genes like me logo Genes that share disorders with MIR4469: view

No data available for Genatlas for MIR4469 Gene

Publications for MIR4469 Gene

  1. miRBase: integrating microRNA annotation and deep-sequencing data. (PMID: 21037258) Kozomara A. … Griffiths-Jones S. (Nucleic Acids Res. 2011) 3 64
  2. Identification of new microRNAs in paired normal and tumor breast tissue suggests a dual role for the ERBB2/Her2 gene. (PMID: 21199797) Persson H. … Rovira C. (Cancer Res. 2011) 3 64
  3. A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. (PMID: 21115467) Valdmanis P.N. … Rouleau G.A. (Brain 2011) 4 64
  4. Initial characterization of the human central proteome. (PMID: 21269460) Burkard T.R. … Colinge J. (BMC Syst. Biol. 2011) 4 64
  5. 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) 4 64

Products for MIR4469 Gene

Sources for MIR4469 Gene

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