RFFL

E3 ubiquitin-protein ligase RFFL (Ring Finger And FYVE Like Domain Containing E3 Ubiquitin) is a ubiquitin ligase enzyme that in humans is encoded by the RFFL gene.^[5][6] RFFL associates with endosomes.^[7] RFFL is known to affect cardiac repolarization,^[8] Cystic fibrosis transmembrane conductance regulator (CFTR) ubiquitination,^[9] and mitochondrial clearance by affecting Parkin/PRKN recruitment.^[7]

PDBOrtholog search: PDBe RCSB

AliasesRFFL, CARP-2, CARP2, FRING, RIFIFYLIN, RNF189, RNF34L, ring finger and FYVE-like domain containing E3 ubiquitin protein ligase, ring finger and FYVE like domain containing E3 ubiquitin protein ligase

External IDsOMIM: 609735; MGI: 1914588; HomoloGene: 12116; GeneCards: RFFL; OMA:RFFL - orthologs

Chr.Chromosome 17 (human)^[1]

Quick facts Available structures, PDB ...

RFFL
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1Y02
Identifiers
Aliases	RFFL, CARP-2, CARP2, FRING, RIFIFYLIN, RNF189, RNF34L, ring finger and FYVE-like domain containing E3 ubiquitin protein ligase, ring finger and FYVE like domain containing E3 ubiquitin protein ligase
External IDs	OMIM: 609735; MGI: 1914588; HomoloGene: 12116; GeneCards: RFFL; OMA:RFFL - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q12 Start 35,005,990 bp[1] End 35,089,319 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 C Start 82,693,275 bp[2] End 82,762,036 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in inferior ganglion of vagus nerve secondary oocyte pancreatic epithelial cell buccal mucosa cell corpus callosum mucosa of ileum spinal cord amniotic fluid subthalamic nucleus C1 segment Top expressed in granulocyte olfactory epithelium zygote secondary oocyte lacrimal gland seminiferous tubule spermatid blood epithelium of stomach primary oocyte More reference expression data BioGPS n/a
Gene ontology Molecular function p53 binding metal ion binding protease binding protein binding protein kinase binding ubiquitin protein ligase binding ubiquitin protein ligase activity transferase activity Cellular component cytoplasm cytosol endosome membrane plasma membrane Golgi membrane tumor necrosis factor receptor superfamily complex recycling endosome membrane lysosome endosome membrane nucleoplasm Biological process regulation of TOR signaling ubiquitin-dependent protein catabolic process negative regulation of tumor necrosis factor-mediated signaling pathway protein K48-linked ubiquitination negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis negative regulation of extrinsic apoptotic signaling pathway via death domain receptors protein ubiquitination negative regulation of signal transduction by p53 class mediator regulation of fibroblast migration proteasome-mediated ubiquitin-dependent protein catabolic process apoptotic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 117584 67338 Ensembl ENSG00000092871 ENSMUSG00000020696 UniProt Q8WZ73 Q6ZQM0 RefSeq (mRNA) NM_001017368 NM_057178 NM_001007465 NM_001164569 NM_001164570 NM_001164571 NM_026097 RefSeq (protein) NP_001017368 NP_001007466 NP_001158041 NP_001158042 NP_001158043 NP_080373 Location (UCSC) Chr 17: 35.01 – 35.09 Mb Chr 11: 82.69 – 82.76 Mb PubMed search [3] [4]
Wikidata
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