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Aliases for RFFL Gene

Aliases for RFFL Gene

  • Ring Finger And FYVE-Like Domain Containing E3 Ubiquitin Protein Ligase 2 3
  • RING Finger And FYVE-Like Domain-Containing Protein 1 3 4
  • Caspases-8 And -10-Associated RING Finger Protein 2 3 4
  • Caspase Regulator CARP2 3 4
  • RING Finger Protein 189 3 4
  • CARP-2 3 4
  • RNF189 3 4
  • RNF34L 3 4
  • FRING 3 4
  • Ring Finger And FYVE-Like Domain Containing 1 3
  • Ring Finger And FYVE-Like Domain Containing 2
  • FYVE-RING Finger Protein SAKURA 3
  • FYVE-RING Finger Protein Sakura 4
  • RING Finger Protein 34-Like 4
  • EC 6.3.2.- 4
  • RIFIFYLIN 3
  • EC 6.3.2 63
  • CARP2 3

External Ids for RFFL Gene

Previous GeneCards Identifiers for RFFL Gene

  • GC17M030360
  • GC17M033333
  • GC17M029522

Summaries for RFFL Gene

GeneCards Summary for RFFL Gene

RFFL (Ring Finger And FYVE-Like Domain Containing E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Among its related pathways are TNF signaling (REACTOME). GO annotations related to this gene include protein kinase binding and ubiquitin protein ligase binding. An important paralog of this gene is RNF34.

UniProtKB/Swiss-Prot for RFFL Gene

  • E3 ubiquitin-protein ligase that regulates several biological processes through the ubiquitin-mediated proteasomal degradation of various target proteins. Mediates Lys-48-linked polyubiquitination of PRR5L and its subsequent proteasomal degradation thereby indirectly regulating cell migration through the mTORC2 complex. Ubiquitinates the caspases CASP8 and CASP10, promoting their proteasomal degradation, to negatively regulate cell death downstream of death domain receptors in the extrinsic pathway of apoptosis. Negatively regulates the tumor necrosis factor-mediated signaling pathway through targeting of RIPK1 to ubiquitin-mediated proteasomal degradation. Negatively regulates p53/TP53 through its direct ubiquitination and targeting to proteasomal degradation. Indirectly, may also negatively regulate p53/TP53 through ubiquitination and degradation of SFN. May also play a role in endocytic recycling.

Gene Wiki entry for RFFL Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RFFL Gene

Genomics for RFFL Gene

Regulatory Elements for RFFL Gene

Genomic Location for RFFL Gene

Chromosome:
17
Start:
35,005,990 bp from pter
End:
35,089,329 bp from pter
Size:
83,340 bases
Orientation:
Minus strand

Genomic View for RFFL Gene

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

RefSeq DNA sequence for RFFL Gene

Proteins for RFFL Gene

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

    Protein Symbol:
    Q8WZ73-RFFL_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase rififylin
    Protein Accession:
    Q8WZ73
    Secondary Accessions:
    • E1P633
    • Q8NHW0
    • Q8TBY7
    • Q96BE6

    Protein attributes for RFFL Gene

    Size:
    363 amino acids
    Molecular mass:
    40514 Da
    Quaternary structure:
    • Interacts with CASP8 and CASP10. Interacts with RIPK1 (via protein kinase domain); involved in RIPK1 ubiquitination. Interacts with PRR5L. Interacts (via RING-type zinc finger) with p53/TP53; involved in p53/TP53 ubiquitination. Interacts (via RING-type zinc finger) with MDM2; the interaction stabilizes MDM2.

    Three dimensional structures from OCA and Proteopedia for RFFL Gene

    Alternative splice isoforms for RFFL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RFFL Gene

Proteomics data for RFFL Gene at MOPED

Selected DME Specific Peptides for RFFL Gene

Post-translational modifications for RFFL Gene

  • Autoubiquitinated.
  • Palmitoylated.
  • Undergoes caspase-mediated cleavage upon death-receptor activation, by TNFSF10 for instance. May be mediated by the caspases CASP8 and CASP10 in a negative feedback loop
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for RFFL Gene

Gene Families for RFFL Gene

Protein Domains for RFFL Gene

Suggested Antigen Peptide Sequences for RFFL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WZ73

UniProtKB/Swiss-Prot:

RFFL_HUMAN :
  • The RING-type zinc finger is required for the ubiquitination of target proteins.
  • Contains 1 FYVE-type zinc finger.
Domain:
  • The RING-type zinc finger is required for the ubiquitination of target proteins.
  • The FYVE-type zinc finger domain is required for localization to the recycling endosome membranes and the function in endocytic recycling.
  • Contains 2 SAP domains.
Similarity:
  • Contains 1 FYVE-type zinc finger.
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with RFFL: view

Function for RFFL Gene

Molecular function for RFFL Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that regulates several biological processes through the ubiquitin-mediated proteasomal degradation of various target proteins. Mediates Lys-48-linked polyubiquitination of PRR5L and its subsequent proteasomal degradation thereby indirectly regulating cell migration through the mTORC2 complex. Ubiquitinates the caspases CASP8 and CASP10, promoting their proteasomal degradation, to negatively regulate cell death downstream of death domain receptors in the extrinsic pathway of apoptosis. Negatively regulates the tumor necrosis factor-mediated signaling pathway through targeting of RIPK1 to ubiquitin-mediated proteasomal degradation. Negatively regulates p53/TP53 through its direct ubiquitination and targeting to proteasomal degradation. Indirectly, may also negatively regulate p53/TP53 through ubiquitination and degradation of SFN. May also play a role in endocytic recycling.
UniProtKB/Swiss-Prot Induction:
Down-regulated upon DNA damage.

Enzyme Numbers (IUBMB) for RFFL Gene

Gene Ontology (GO) - Molecular Function for RFFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 15069192
GO:0002039 p53 binding IPI 17121812
GO:0005515 protein binding IPI 22609986
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with RFFL: view
genes like me logo Genes that share phenotypes with RFFL: view

Animal Models for RFFL Gene

MGI Knock Outs for RFFL:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RFFL

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for RFFL Gene

Localization for RFFL Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFFL Gene

Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein. Recycling endosome membrane; Peripheral membrane protein. Note=The FYVE-type zinc finger may mediate phosphatidylinositol phosphate-binding and control subcellular localization.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RFFL Gene COMPARTMENTS Subcellular localization image for RFFL gene
Compartment Confidence
endosome 5
plasma membrane 5
cytosol 3

Gene Ontology (GO) - Cellular Components for RFFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 NOT Golgi membrane IDA 18450452
GO:0002947 colocalizes_with tumor necrosis factor receptor superfamily complex IDA 18450452
GO:0005737 cytoplasm IDA 15069192
GO:0005764 NOT lysosome IDA 18450452
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with RFFL: view

Pathways & Interactions for RFFL Gene

SuperPathways for RFFL Gene

Superpath Contained pathways
1 TNF signaling (REACTOME)
genes like me logo Genes that share pathways with RFFL: view

Pathways by source for RFFL Gene

1 BioSystems pathway for RFFL Gene

UniProtKB/Swiss-Prot Q8WZ73-RFFL_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RFFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process IMP 18450452
GO:0006886 intracellular protein transport IEA --
GO:0010762 regulation of fibroblast migration ISS --
GO:0010804 negative regulation of tumor necrosis factor-mediated signaling pathway IMP 18450452
GO:0032006 regulation of TOR signaling IC 22609986
genes like me logo Genes that share ontologies with RFFL: view

No data available for SIGNOR curated interactions for RFFL Gene

Drugs & Compounds for RFFL Gene

No Compound Related Data Available

Transcripts for RFFL Gene

Unigene Clusters for RFFL Gene

Ring finger and FYVE-like domain containing E3 ubiquitin protein ligase:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RFFL

Flow Cytometry Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c · 9d · 9e ^ 10 ^ 11 ^ 12
SP1: - - - - - - - -
SP2: -
SP3: - - - - - - -
SP4: -
SP5: - - - - -
SP6: - - - -
SP7: - - - - -
SP8: - - - - - - - - - - - - - - - -
SP9: - - - - - - -
SP10: - -

Relevant External Links for RFFL Gene

GeneLoc Exon Structure for
RFFL
ECgene alternative splicing isoforms for
RFFL

Expression for RFFL Gene

mRNA expression in normal human tissues for RFFL Gene

Protein differential expression in normal tissues from HIPED for RFFL Gene

This gene is overexpressed in Pancreas (32.4), Peripheral blood mononuclear cells (11.5), Spinal cord (8.6), and Frontal cortex (8.5).

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



SOURCE GeneReport for Unigene cluster for RFFL Gene Hs.13680

mRNA Expression by UniProt/SwissProt for RFFL Gene

Q8WZ73-RFFL_HUMAN
Tissue specificity: Ubiquitous. Detected in spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes.
genes like me logo Genes that share expression patterns with RFFL: view

Protein tissue co-expression partners for RFFL Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RFFL Gene

Orthologs for RFFL Gene

This gene was present in the common ancestor of animals.

Orthologs for RFFL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RFFL 35
  • 86.42 (n)
  • 88.76 (a)
RFFL 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RFFL 35
  • 90.08 (n)
  • 92.56 (a)
RFFL 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rffl 35
  • 88.89 (n)
  • 89.53 (a)
Rffl 16
Rffl 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RFFL 35
  • 99.82 (n)
  • 99.72 (a)
RFFL 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rffl 35
  • 89.02 (n)
  • 91.32 (a)
oppossum
(Monodelphis domestica)
Mammalia RFFL 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves RFFL 35
  • 69.63 (n)
  • 68.06 (a)
RFFL 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rffl 35
  • 61.08 (n)
  • 58.84 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.29063 35
zgc:77828 35
  • 62.04 (n)
  • 58.38 (a)
RFFL (1 of 2) 36
  • 58 (a)
OneToMany
RFFL (2 of 2) 36
  • 57 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4743 35
fruit fly
(Drosophila melanogaster)
Insecta CG17019 36
  • 18 (a)
OneToMany
Species with no ortholog for RFFL:
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 RFFL Gene

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

Paralogs for RFFL Gene

Paralogs for RFFL Gene

(1) SIMAP similar genes for RFFL Gene using alignment to 5 proteins:

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

Variants for RFFL Gene

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

Variant ID Type Subtype PubMed ID
nsv2035 CNV Loss 18451855

Variation tolerance for RFFL Gene

Residual Variation Intolerance Score: 83.04% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.27; 25.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RFFL Gene

HapMap Linkage Disequilibrium report
RFFL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for RFFL Gene

Disorders for RFFL Gene

Relevant External Links for RFFL

Genetic Association Database (GAD)
RFFL
Human Genome Epidemiology (HuGE) Navigator
RFFL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RFFL
genes like me logo Genes that share disorders with RFFL: view

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

Publications for RFFL Gene

  1. Over-expression of Rififylin, a new RING finger and FYVE-like domain-containing protein, inhibits recycling from the endocytic recycling compartment. (PMID: 15229288) Coumailleau F. … Cohen-Tannoudji M. (Mol. Biol. Cell 2004) 2 23 67
  2. [Inhibition of endocytic recycling by Rififylin]. (PMID: 15745692) Coumailleau F. … Cohen-Tannoudji M. (Med Sci (Paris) 2005) 23 67
  3. Crystal structure of a FYVE-type zinc finger domain from the caspase regulator CARP2. (PMID: 15576038) Tibbetts M.D. … Shi Y. (Structure 2004) 23 67
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  5. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 67

Products for RFFL Gene

Sources for RFFL Gene

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