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Aliases for RNF217 Gene

Aliases for RNF217 Gene

  • Ring Finger Protein 217 2 3
  • IBR Domain Containing 1 2 3
  • RING Finger Protein 217 4 5
  • C6orf172 3 4
  • IBRDC1 3 4
  • Chromosome 6 Open Reading Frame 172 2
  • IBR Domain-Containing Protein 1 4
  • Opposite STL 3
  • EC 6.3.2.- 4
  • DJ84N20.1 3
  • OSTL 3

External Ids for RNF217 Gene

Previous HGNC Symbols for RNF217 Gene

  • C6orf172
  • IBRDC1

Previous GeneCards Identifiers for RNF217 Gene

  • GC06P125347
  • GC06P122881

Summaries for RNF217 Gene

Entrez Gene Summary for RNF217 Gene

  • This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]

GeneCards Summary for RNF217 Gene

RNF217 (Ring Finger Protein 217) is a Protein Coding gene. Among its related pathways are Immune System and Antigen processing- Ubiquitination and Proteasome degradation. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity.

UniProtKB/Swiss-Prot for RNF217 Gene

  • E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF217 Gene

Genomics for RNF217 Gene

Regulatory Elements for RNF217 Gene

Enhancers for RNF217 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RNF217 on UCSC Golden Path with GeneCards custom track

Promoters for RNF217 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RNF217 on UCSC Golden Path with GeneCards custom track

Genomic Location for RNF217 Gene

Chromosome:
6
Start:
124,962,486 bp from pter
End:
125,092,633 bp from pter
Size:
130,148 bases
Orientation:
Plus strand

Genomic View for RNF217 Gene

Genes around RNF217 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF217 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF217 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF217 Gene

Proteins for RNF217 Gene

  • Protein details for RNF217 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TC41-RN217_HUMAN
    Recommended name:
    Probable E3 ubiquitin-protein ligase RNF217
    Protein Accession:
    Q8TC41
    Secondary Accessions:
    • H7C5V4
    • Q5TCA4
    • Q9BX48

    Protein attributes for RNF217 Gene

    Size:
    542 amino acids
    Molecular mass:
    59372 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RNF217 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF217 Gene

Proteomics data for RNF217 Gene at MOPED

Post-translational modifications for RNF217 Gene

  • Ubiquitination at Lys 475
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for RNF217 Gene

Domains & Families for RNF217 Gene

Gene Families for RNF217 Gene

Protein Domains for RNF217 Gene

Suggested Antigen Peptide Sequences for RNF217 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TC41

UniProtKB/Swiss-Prot:

RN217_HUMAN :
  • Belongs to the RBR family. RNF217 subfamily.
  • Contains 2 IBR-type zinc fingers.
Family:
  • Belongs to the RBR family. RNF217 subfamily.
Similarity:
  • Contains 2 IBR-type zinc fingers.
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with RNF217: view

Function for RNF217 Gene

Molecular function for RNF217 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.

Enzyme Numbers (IUBMB) for RNF217 Gene

Gene Ontology (GO) - Molecular Function for RNF217 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA,TAS --
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with RNF217: view
genes like me logo Genes that share phenotypes with RNF217: view

Animal Model Products

CRISPR Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RNF217 Gene

Localization for RNF217 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF217 Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RNF217 Gene COMPARTMENTS Subcellular localization image for RNF217 gene
Compartment Confidence
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RNF217 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RNF217: view

Pathways & Interactions for RNF217 Gene

genes like me logo Genes that share pathways with RNF217: view

UniProtKB/Swiss-Prot Q8TC41-RN217_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Interacting Proteins for RNF217 Gene

Gene Ontology (GO) - Biological Process for RNF217 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with RNF217: view

No data available for SIGNOR curated interactions for RNF217 Gene

Drugs & Compounds for RNF217 Gene

No Compound Related Data Available

Transcripts for RNF217 Gene

Unigene Clusters for RNF217 Gene

Ring finger protein 217:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RNF217 Gene

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

Relevant External Links for RNF217 Gene

GeneLoc Exon Structure for
RNF217
ECgene alternative splicing isoforms for
RNF217

Expression for RNF217 Gene

mRNA expression in normal human tissues for RNF217 Gene

SOURCE GeneReport for Unigene cluster for RNF217 Gene Hs.368639

genes like me logo Genes that share expression patterns with RNF217: view

Primer Products

In Situ Assay Products

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 , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for RNF217 Gene

Orthologs for RNF217 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RNF217 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RNF217 35
  • 94.74 (n)
  • 97.69 (a)
RNF217 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RNF217 35
  • 91.7 (n)
  • 94.72 (a)
RNF217 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnf217 35
  • 85.71 (n)
  • 83.43 (a)
Rnf217 16
Rnf217 36
  • 43 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RNF217 35
  • 99.78 (n)
  • 99.35 (a)
RNF217 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnf217 35
  • 92.61 (n)
  • 97.54 (a)
oppossum
(Monodelphis domestica)
Mammalia RNF217 36
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF217 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNF217 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf217 35
  • 72.78 (n)
  • 73.64 (a)
zebrafish
(Danio rerio)
Actinopterygii rnf217 35
  • 59.31 (n)
  • 56.89 (a)
rnf217 36
  • 29 (a)
OneToOne
Species with no ortholog for RNF217:
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RNF217 Gene

ENSEMBL:
Gene Tree for RNF217 (if available)
TreeFam:
Gene Tree for RNF217 (if available)

Paralogs for RNF217 Gene

genes like me logo Genes that share paralogs with RNF217: view

No data available for Paralogs for RNF217 Gene

Variants for RNF217 Gene

Sequence variations from dbSNP and Humsavar for RNF217 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs475076 - 125,057,966(+) AATTC(A/G)TCTGG nc-transcript-variant, reference, missense
rs1044723 -- 125,091,073(+) TTTAG(A/G)GCAAT utr-variant-3-prime
rs1044724 -- 125,091,085(+) AACTT(A/C)TTTCC utr-variant-3-prime
rs1322632 -- 125,080,124(+) AGCTA(A/T)GTGCA intron-variant
rs1322633 -- 125,082,133(+) TCGGT(A/G)TATGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RNF217 Gene

Variant ID Type Subtype PubMed ID
nsv819530 CNV Gain 19587683
nsv886625 CNV Gain 21882294
nsv830795 CNV Loss 17160897
nsv5466 CNV Loss 18451855

Variation tolerance for RNF217 Gene

Residual Variation Intolerance Score: 70% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.90; 59.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNF217 Gene

HapMap Linkage Disequilibrium report
RNF217

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF217 Gene

Disorders for RNF217 Gene

Relevant External Links for RNF217

Genetic Association Database (GAD)
RNF217
Human Genome Epidemiology (HuGE) Navigator
RNF217
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNF217

No disorders were found for RNF217 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RNF217 Gene

Publications for RNF217 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48 67
  2. Regulation of RNF144A E3 Ubiquitin Ligase Activity by Self-association through Its Transmembrane Domain. (PMID: 26216882) Ho S.R. … Lin W.C. (J. Biol. Chem. 2015) 3
  3. Identification and characterization of OSTL (RNF217) encoding a RING-IBR-RING protein adjacent to a translocation breakpoint involving ETV6 in childhood ALL. (PMID: 25298122) Fontanari Krause L.M. … Bohlander S.K. (Sci Rep 2014) 3
  4. The Role of the Transmembrane RING Finger Proteins in Cellular and Organelle Function. (PMID: 24957874) Nakamura N. (Membranes (Basel) 2011) 3
  5. A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. (PMID: 20682791) Gorbea C. … Rechsteiner M. (J. Biol. Chem. 2010) 3

Products for RNF217 Gene

Sources for RNF217 Gene

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