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Aliases for RNF126 Gene

Aliases for RNF126 Gene

  • Ring Finger Protein 126 2 3
  • RING Finger Protein 126 4 5
  • EC 2.3.2.27 4

External Ids for RNF126 Gene

Previous GeneCards Identifiers for RNF126 Gene

  • GC19M000587
  • GC19M000599
  • GC19M000600
  • GC19M000601
  • GC19M000602
  • GC19M000418

Summaries for RNF126 Gene

Entrez Gene Summary for RNF126 Gene

  • The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]

GeneCards Summary for RNF126 Gene

RNF126 (Ring Finger Protein 126) is a Protein Coding gene. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. GO annotations related to this gene include ligase activity and epidermal growth factor receptor binding. An important paralog of this gene is RNF115.

UniProtKB/Swiss-Prot for RNF126 Gene

  • E3 ubiquitin-protein ligase that mediates ubiquitination oF target proteins (PubMed:23277564, PubMed:24275455, PubMed:24981174). Depending on the associated E2 ligase, mediates Lys-48- and Lys-63-linked polyubiquitination of substrates (By similarity). Part of a BAG6-dependent quality control process ensuring that proteins of the secretory pathway that are mislocalized to the cytosol are degraded by the proteasome. Probably acts by providing the ubiquitin ligase activity associated with the BAG6 complex and be responsible for ubiquitination of the hydrophobic mislocalized proteins and their targeting to the proteasome (PubMed:24981174). May also play a role in the endosomal recycling of IGF2R, the cation-independent mannose-6-phosphate receptor (PubMed:24275455). May play a role in the endosomal sorting and degradation of several membrane receptors including EGFR, FLT3, MET and CXCR4, by mediating their ubiquitination (PubMed:23418353). By ubiquitinating CDKN1A/p21 and targeting it for degradation, may also promote cell proliferation (PubMed:23026136). May monoubiquitinate AICDA (PubMed:23277564).

Additional gene information for RNF126 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF126 Gene

Genomics for RNF126 Gene

Regulatory Elements for RNF126 Gene

Enhancers for RNF126 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
GH19H001236 1.9 FANTOM5 ENCODE dbSUPER 18.7 -593.5 -593546 41 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 SP3 NFYC ZC3H11A SF3A2 TCF3 LOC100288123 MIER2 CIRBP TMEM259 DAZAP1 PTBP1 C19orf24 MUM1
GH19H001437 1.4 ENCODE dbSUPER 18.7 -776.2 -776171 4 MLX DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZFP41 SSRP1 ZNF610 SF3A2 TCF3 TMEM259 LOC100288123 PTBP1 DAZAP1 MED16 GRIN3B ENSG00000267317 MUM1
GH19H000569 2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +90.0 89990 7 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 LOC105372233 MIER2 CIRBP GRIN3B DAZAP1 RNF126 MED16 BSG CDC34 R3HDM4
GH19H001406 2 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -749.5 -749517 13 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 TCF3 SF3A2 TMEM259 PTBP1 LOC100288123 GRIN3B RPS15 ENSG00000267317 CIRBP DAZAP1
GH19H001179 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -519.8 -519831 6 HDGF PKNOX1 ATF1 MLX ARID4B SIN3A DMAP1 YBX1 ZBTB7B ZNF121 DAZAP1 MIER2 LOC100288123 TCF3 TMEM259 DOT1L PTBP1 MED16 ENSG00000267317 GRIN3B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RNF126 on UCSC Golden Path with GeneCards custom track

Promoters for RNF126 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000105509 813 2201 HDGF ATF1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ELK1

Transcription factor binding sites by QIAGEN in the RNF126 gene promoter:

Genomic Location for RNF126 Gene

Chromosome:
19
Start:
647,526 bp from pter
End:
663,313 bp from pter
Size:
15,788 bases
Orientation:
Minus strand

Genomic View for RNF126 Gene

Genes around RNF126 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF126 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF126 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF126 Gene

Proteins for RNF126 Gene

  • Protein details for RNF126 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BV68-RN126_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF126
    Protein Accession:
    Q9BV68
    Secondary Accessions:
    • Q9NWX1

    Protein attributes for RNF126 Gene

    Size:
    326 amino acids
    Molecular mass:
    35585 Da
    Quaternary structure:
    • Interacts with CCDC50, EGFR, FLT3 and SCAMP3 (PubMed:23418353). Interacts with BAG6 (via ubiquitin-like domain); required for BAG6-dependent ubiquitination of proteins mislocalized to the cytosol (PubMed:24981174, PubMed:27193484). Interacts with CDKN1A (PubMed:23026136). Interacts with AICDA (PubMed:23277564).

    Three dimensional structures from OCA and Proteopedia for RNF126 Gene

    Alternative splice isoforms for RNF126 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF126 Gene

Post-translational modifications for RNF126 Gene

Other Protein References for RNF126 Gene

No data available for DME Specific Peptides for RNF126 Gene

Domains & Families for RNF126 Gene

Gene Families for RNF126 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RNF126 Gene

Suggested Antigen Peptide Sequences for RNF126 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BV68

UniProtKB/Swiss-Prot:

RN126_HUMAN :
  • The C4-type zinc finger is required for interaction with BAG6.
Domain:
  • The C4-type zinc finger is required for interaction with BAG6.
genes like me logo Genes that share domains with RNF126: view

Function for RNF126 Gene

Molecular function for RNF126 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 mediates ubiquitination oF target proteins (PubMed:23277564, PubMed:24275455, PubMed:24981174). Depending on the associated E2 ligase, mediates Lys-48- and Lys-63-linked polyubiquitination of substrates (By similarity). Part of a BAG6-dependent quality control process ensuring that proteins of the secretory pathway that are mislocalized to the cytosol are degraded by the proteasome. Probably acts by providing the ubiquitin ligase activity associated with the BAG6 complex and be responsible for ubiquitination of the hydrophobic mislocalized proteins and their targeting to the proteasome (PubMed:24981174). May also play a role in the endosomal recycling of IGF2R, the cation-independent mannose-6-phosphate receptor (PubMed:24275455). May play a role in the endosomal sorting and degradation of several membrane receptors including EGFR, FLT3, MET and CXCR4, by mediating their ubiquitination (PubMed:23418353). By ubiquitinating CDKN1A/p21 and targeting it for degradation, may also promote cell proliferation (PubMed:23026136). May monoubiquitinate AICDA (PubMed:23277564).

Enzyme Numbers (IUBMB) for RNF126 Gene

Phenotypes From GWAS Catalog for RNF126 Gene

Gene Ontology (GO) - Molecular Function for RNF126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005154 epidermal growth factor receptor binding IEA --
GO:0005515 protein binding IPI 14667819
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IDA 23026136
genes like me logo Genes that share ontologies with RNF126: view
genes like me logo Genes that share phenotypes with RNF126: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RNF126
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RNF126 Gene

Localization for RNF126 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF126 Gene

Cytoplasm. Nucleus.

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 RNF126 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RNF126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 23026136
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 23026136
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with RNF126: view

Pathways & Interactions for RNF126 Gene

genes like me logo Genes that share pathways with RNF126: view

UniProtKB/Swiss-Prot Q9BV68-RN126_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IBA --
GO:0006513 protein monoubiquitination IDA 23277564
GO:0016567 protein ubiquitination IEA --
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway IMP 23418353
GO:0042127 regulation of cell proliferation IMP 23026136
genes like me logo Genes that share ontologies with RNF126: view

No data available for SIGNOR curated interactions for RNF126 Gene

Drugs & Compounds for RNF126 Gene

No Compound Related Data Available

Transcripts for RNF126 Gene

Unigene Clusters for RNF126 Gene

Ring finger protein 126:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RNF126
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RNF126 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b · 11c ·
SP1: - - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - - -
SP7: - -
SP8: - - - -
SP9: - - - - -
SP10: - - -
SP11:
SP12:
SP13: - -

ExUns: 11d · 11e
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for RNF126 Gene

GeneLoc Exon Structure for
RNF126
ECgene alternative splicing isoforms for
RNF126

Expression for RNF126 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNF126 Gene

Protein differential expression in normal tissues from HIPED for RNF126 Gene

This gene is overexpressed in Testis (6.9) and Monocytes (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RNF126 Gene



Protein tissue co-expression partners for RNF126 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RNF126 Gene:

RNF126

SOURCE GeneReport for Unigene cluster for RNF126 Gene:

Hs.69554

mRNA Expression by UniProt/SwissProt for RNF126 Gene:

Q9BV68-RN126_HUMAN
Tissue specificity: Highly expressed in liver and testis.

Evidence on tissue expression from TISSUES for RNF126 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with RNF126: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF126 Gene

Orthologs for RNF126 Gene

This gene was present in the common ancestor of animals.

Orthologs for RNF126 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF126 33 34
  • 97.53 (n)
dog
(Canis familiaris)
Mammalia LOC485101 33
  • 91.26 (n)
RNF126 34
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RNF126 33 34
  • 90.32 (n)
rat
(Rattus norvegicus)
Mammalia Rnf126 33
  • 87.89 (n)
mouse
(Mus musculus)
Mammalia Rnf126 33 16 34
  • 87.14 (n)
oppossum
(Monodelphis domestica)
Mammalia RNF126 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RNF126 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF126 33 34
  • 75.38 (n)
lizard
(Anolis carolinensis)
Reptilia RNF126 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf126 33
  • 68.2 (n)
Str.11305 33
African clawed frog
(Xenopus laevis)
Amphibia MGC69096 33
zebrafish
(Danio rerio)
Actinopterygii rnf126 33 34
  • 70.04 (n)
CU570683.1 34
  • 68 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4466 33
fruit fly
(Drosophila melanogaster)
Insecta CG11982 33 34
  • 49.36 (n)
worm
(Caenorhabditis elegans)
Secernentea Y54E10BR.3 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
OneToMany
Species where no ortholog for RNF126 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RNF126 Gene

ENSEMBL:
Gene Tree for RNF126 (if available)
TreeFam:
Gene Tree for RNF126 (if available)

Paralogs for RNF126 Gene

Paralogs for RNF126 Gene

(2) SIMAP similar genes for RNF126 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for RNF126 Gene

genes like me logo Genes that share paralogs with RNF126: view

Variants for RNF126 Gene

Sequence variations from dbSNP and Humsavar for RNF126 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000043025 -- 656,524(+) GGTGC(C/T)TGTAA intron-variant
rs1000069905 -- 659,765(+) CATCG(A/C)CTTTT intron-variant
rs1000443627 -- 661,219(+) TGTGC(A/G)GGCTC intron-variant
rs1000472787 -- 653,068(+) CAGCC(A/C)CCCGC intron-variant
rs1000481732 -- 663,355(+) CAAGC(-/G)GGGGG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for RNF126 Gene

Variant ID Type Subtype PubMed ID
dgv134n111 CNV deletion 26073780
esv3643357 CNV loss 21293372
esv3643358 CNV gain 21293372
esv3643359 CNV gain 21293372
nsv428360 CNV gain 18775914
nsv470101 CNV loss 18288195
nsv577978 CNV gain 21841781
nsv578163 CNV loss 21841781
nsv578164 CNV loss 21841781
nsv953938 CNV deletion 24416366

Variation tolerance for RNF126 Gene

Gene Damage Index Score: 4.37; 63.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNF126 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF126

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF126 Gene

Disorders for RNF126 Gene

Relevant External Links for RNF126

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNF126

No disorders were found for RNF126 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RNF126 Gene

Publications for RNF126 Gene

  1. Cytosolic quality control of mislocalized proteins requires RNF126 recruitment to Bag6. (PMID: 24981174) Rodrigo-Brenni MC … Hegde RS (Molecular cell 2014) 3 4 60
  2. The ubiquitin ligase RNF126 regulates the retrograde sorting of the cation-independent mannose 6-phosphate receptor. (PMID: 24275455) Smith CJ … McGlade CJ (Experimental cell research 2014) 3 4 60
  3. The E3 ubiquitin ligases RNF126 and Rabring7 regulate endosomal sorting of the epidermal growth factor receptor. (PMID: 23418353) Smith CJ … McGlade CJ (Journal of cell science 2013) 3 4 60
  4. Solubility-based genetic screen identifies RING finger protein 126 as an E3 ligase for activation-induced cytidine deaminase. (PMID: 23277564) Delker RK … Papavasiliou FN (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 60
  5. E3 ubiquitin ligase RNF126 promotes cancer cell proliferation by targeting the tumor suppressor p21 for ubiquitin-mediated degradation. (PMID: 23026136) Zhi X … Chen C (Cancer research 2013) 3 4 60

Products for RNF126 Gene

Sources for RNF126 Gene

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