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RFFL (ring finger and FYVE like domain containing E3 ubiquitin protein ligase)

Identity

Alias (NCBI)CARP-2
CARP2
FRING
RIFIFYLIN
RNF189
RNF34L
HGNC (Hugo) RFFL
HGNC Alias symbrififylin
fring
RNF189
RNF34L
CARP2
CARP-2
HGNC Alias namecaspase 8 and 10 associated RING protein-2
HGNC Previous namering finger and FYVE-like domain containing
LocusID (NCBI) 117584
Atlas_Id 53751
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 35005990 and ends at 35063707 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
IPO11 (5q12.1) / RFFL (17q12)RFFL (17q12) / FLNA (Xq28)RFFL (17q12) / RFFL (17q12)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)RFFL   24821
Cards
Entrez_Gene (NCBI)RFFL    ring finger and FYVE like domain containing E3 ubiquitin protein ligase
AliasesCARP-2; CARP2; FRING; RIFIFYLIN; 
RNF189; RNF34L
GeneCards (Weizmann)RFFL
Ensembl hg19 (Hinxton)ENSG00000092871 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000092871 [Gene_View]  ENSG00000092871 [Sequence]  chr17:35005990-35063707 [Contig_View]  RFFL [Vega]
ICGC DataPortalENSG00000092871
TCGA cBioPortalRFFL
AceView (NCBI)RFFL
Genatlas (Paris)RFFL
SOURCE (Princeton)RFFL
Genetics Home Reference (NIH)RFFL
Genomic and cartography
GoldenPath hg38 (UCSC)RFFL  -     chr17:35005990-35063707 -  17q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RFFL  -     17q12   [Description]    (hg19-Feb_2009)
GoldenPathRFFL - 17q12 [CytoView hg19]  RFFL - 17q12 [CytoView hg38]
ImmunoBaseENSG00000092871
Genome Data Viewer NCBIRFFL [Mapview hg19]  
OMIM609735   
Gene and transcription
Genbank (Entrez)AF434816 AK093112 AK308689 AY098935 BC015681
RefSeq transcript (Entrez)NM_001017368 NM_057178
Consensus coding sequences : CCDS (NCBI)RFFL
Gene ExpressionRFFL [ NCBI-GEO ]   RFFL [ EBI - ARRAY_EXPRESS ]   RFFL [ SEEK ]   RFFL [ MEM ]
Gene Expression Viewer (FireBrowse)RFFL [ Firebrowse - Broad ]
GenevisibleExpression of RFFL in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)117584
GTEX Portal (Tissue expression)RFFL
Human Protein AtlasENSG00000092871-RFFL [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WZ73   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WZ73  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WZ73
PhosPhoSitePlusQ8WZ73
Domaine pattern : Prosite (Expaxy)ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)SAP_dom_sf    Znf_FYVE_PHD    Znf_RING    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)RING (SM00184)  
Conserved Domain (NCBI)RFFL
PDB (RSDB)1Y02   
PDB Europe1Y02   
PDB (PDBSum)1Y02   
PDB (IMB)1Y02   
Structural Biology KnowledgeBase1Y02   
SCOP (Structural Classification of Proteins)1Y02   
CATH (Classification of proteins structures)1Y02   
SuperfamilyQ8WZ73
AlphaFold pdb e-kbQ8WZ73   
Human Protein Atlas [tissue]ENSG00000092871-RFFL [tissue]
HPRD11489
Protein Interaction databases
DIP (DOE-UCLA)Q8WZ73
IntAct (EBI)Q8WZ73
BioGRIDRFFL
STRING (EMBL)RFFL
ZODIACRFFL
Ontologies - Pathways
QuickGOQ8WZ73
Ontology : AmiGOGolgi membrane  protease binding  p53 binding  protein binding  nucleoplasm  cytoplasm  cytoplasm  lysosome  cytosol  plasma membrane  plasma membrane  ubiquitin-dependent protein catabolic process  ubiquitin-dependent protein catabolic process  apoptotic process  endosome membrane  regulation of fibroblast migration  negative regulation of tumor necrosis factor-mediated signaling pathway  membrane  protein kinase binding  ubiquitin protein ligase binding  regulation of TOR signaling  proteasome-mediated ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  metal ion binding  recycling endosome membrane  ubiquitin protein ligase activity  ubiquitin protein ligase activity  protein K48-linked ubiquitination  protein K48-linked ubiquitination  regulation of signal transduction by p53 class mediator  negative regulation of signal transduction by p53 class mediator  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis  negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis  
Ontology : EGO-EBIGolgi membrane  protease binding  p53 binding  protein binding  nucleoplasm  cytoplasm  cytoplasm  lysosome  cytosol  plasma membrane  plasma membrane  ubiquitin-dependent protein catabolic process  ubiquitin-dependent protein catabolic process  apoptotic process  endosome membrane  regulation of fibroblast migration  negative regulation of tumor necrosis factor-mediated signaling pathway  membrane  protein kinase binding  ubiquitin protein ligase binding  regulation of TOR signaling  proteasome-mediated ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  metal ion binding  recycling endosome membrane  ubiquitin protein ligase activity  ubiquitin protein ligase activity  protein K48-linked ubiquitination  protein K48-linked ubiquitination  regulation of signal transduction by p53 class mediator  negative regulation of signal transduction by p53 class mediator  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis  negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis  
NDEx NetworkRFFL
Atlas of Cancer Signalling NetworkRFFL
Wikipedia pathwaysRFFL
Orthology - Evolution
OrthoDB117584
GeneTree (enSembl)ENSG00000092871
Phylogenetic Trees/Animal Genes : TreeFamRFFL
Homologs : HomoloGeneRFFL
Homology/Alignments : Family Browser (UCSC)RFFL
Gene fusions - Rearrangements
Fusion : QuiverRFFL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRFFL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RFFL
dbVarRFFL
ClinVarRFFL
MonarchRFFL
1000_GenomesRFFL 
Exome Variant ServerRFFL
GNOMAD BrowserENSG00000092871
Varsome BrowserRFFL
ACMGRFFL variants
VarityQ8WZ73
Genomic Variants (DGV)RFFL [DGVbeta]
DECIPHERRFFL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRFFL 
Mutations
ICGC Data PortalRFFL 
TCGA Data PortalRFFL 
Broad Tumor PortalRFFL
OASIS PortalRFFL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRFFL  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRFFL
Mutations and Diseases : HGMDRFFL
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRFFL
DgiDB (Drug Gene Interaction Database)RFFL
DoCM (Curated mutations)RFFL
CIViC (Clinical Interpretations of Variants in Cancer)RFFL
Cancer3DRFFL
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609735   
Orphanet
DisGeNETRFFL
MedgenRFFL
Genetic Testing Registry RFFL
NextProtQ8WZ73 [Medical]
GENETestsRFFL
Target ValidationRFFL
Huge Navigator RFFL [HugePedia]
ClinGenRFFL
Clinical trials, drugs, therapy
MyCancerGenomeRFFL
Protein Interactions : CTDRFFL
Pharm GKB GenePA142671086
PharosQ8WZ73
Clinical trialRFFL
Miscellaneous
canSAR (ICR)RFFL
HarmonizomeRFFL
DataMed IndexRFFL
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRFFL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:28:44 CEST 2021

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