ID:RFFL_HUMAN DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase rififylin; EC=6.3.2.-; AltName: Full=Caspase regulator CARP2; AltName: Full=Caspases-8 and -10-associated RING finger protein 2; Short=CARP-2; AltName: Full=FYVE-RING finger protein Sakura; Short=Fring; AltName: Full=RING finger and FYVE-like domain-containing protein 1; AltName: Full=RING finger protein 189; AltName: Full=RING finger protein 34-like; FUNCTION: Has E3 ubiquitin protein ligase activity. Regulates the levels of CASP8 and CASP10 by targeting them for proteasomal degradation. Has anti-apoptotic activity. May bind phosphatidylinositol phosphates. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: Binds CASP8 and CASP10. SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein. TISSUE SPECIFICITY: Ubiquitous. Detected in spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes. PTM: Rapidly degraded after stimulation with TNFSF10, probably by caspases. PTM: Auto-ubiquitinated (in vitro) (By similarity). PTM: Palmitoylated (By similarity). SIMILARITY: Contains 1 FYVE-type zinc finger. SIMILARITY: Contains 1 RING-type zinc finger. SIMILARITY: Contains 2 SAP domains.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): RFFL CDC HuGE Published Literature: RFFL Positive Disease Associations: Life Expectancy
, QT interval Related Studies:
Life Expectancy Kathryn L Lunetta et al. BMC medical genetics 2007, Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study., BMC medical genetics.
[PubMed 17903295]
Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are proposed as contributing to longevity and healthy aging.
QT interval Newton-Cheh ,et al. 2009, Common variants at ten loci influence QT interval duation in the QTGEN Study, Nature genetics 2009 41- 4 : 399-406.
[PubMed 19305408]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8WZ73
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006511 ubiquitin-dependent protein catabolic process GO:0006915 apoptotic process GO:0010762 regulation of fibroblast migration GO:0010804 negative regulation of tumor necrosis factor-mediated signaling pathway GO:0016567 protein ubiquitination GO:0032006 regulation of TOR signaling GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0070936 protein K48-linked ubiquitination GO:1901797 negative regulation of signal transduction by p53 class mediator GO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:2001271 negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis
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