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RFFL ring finger and FYVE like domain containing E3 ubiquitin protein ligase [ Homo sapiens (human) ]

Gene ID: 117584, updated on 3-Jun-2018
Official Symbol
RFFLprovided by HGNC
Official Full Name
ring finger and FYVE like domain containing E3 ubiquitin protein ligaseprovided by HGNC
Primary source
HGNC:HGNC:24821
See related
Ensembl:ENSG00000092871 MIM:609735; Vega:OTTHUMG00000132933
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CARP2; FRING; CARP-2; RNF189; RNF34L; RIFIFYLIN
Expression
Ubiquitous expression in thyroid (RPKM 18.0), esophagus (RPKM 12.3) and 25 other tissues See more
Orthologs
See RFFL in Genome Data Viewer
Location:
17q12
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (35009112..35089329, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (33336131..33416348, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene chaperonin containing TCP1 subunit 6B Neighboring gene zinc finger protein 830 Neighboring gene DNA ligase 3 Neighboring gene RAD51L3-RFFL readthrough Neighboring gene oligosaccharyltransferase complex subunit pseudogene 7 Neighboring gene ribosomal protein L37 pseudogene 22 Neighboring gene RAD51 paralog D Neighboring gene fibronectin type III domain containing 8 Neighboring gene notchless homolog 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
  • Regulation of TP53 Degradation, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Degradation, organism-specific biosystemIn unstressed cells, TP53 (p53) has a short half-life as it undergoes rapid ubiquitination and proteasome-mediated degradation. The E3 ubiquitin ligase MDM2, which is a transcriptional target of TP53...
  • Regulation of TP53 Expression and Degradation, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Expression and Degradation, organism-specific biosystemTP53 (p53) tumor suppressor protein is a transcription factor that functions as a homotetramer (Jeffrey et al. 1995). The protein levels of TP53 are low in unstressed cells due to MDM2-mediated ubiqu...
  • TNF alpha Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TNF alpha Signaling Pathway, organism-specific biosystemTumor necrosis factor alpha (TNF?) is a proinflammatory cytokine involved in various biological processes including regulation of cell proliferation, differentiation, apoptosis and immune response. T...
  • TNF receptor signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    TNF receptor signaling pathway, organism-specific biosystem
    TNF receptor signaling pathway
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Readthrough RAD51L3-RFFL

Readthrough gene: RAD51L3-RFFL, Included gene: RAD51D

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
p53 binding IPI
Inferred from Physical Interaction
more info
PubMed 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase activity TAS
Traceable Author Statement
more info
 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
NOT Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
NOT lysosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
recycling endosome membrane IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with tumor necrosis factor receptor superfamily complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
E3 ubiquitin-protein ligase rififylin
Names
FYVE-RING finger protein SAKURA
RING finger and FYVE-like domain-containing protein 1
RING finger protein 189
RING-type E3 ubiquitin transferase rififylin
caspase 8 and 10 associated RING protein-2
caspase regulator CARP2
caspases-8 and -10-associated RING finger protein 2
ring finger and FYVE-like domain containing 1
NP_001017368.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001017368.1NP_001017368.1  E3 ubiquitin-protein ligase rififylin

    See identical proteins and their annotated locations for NP_001017368.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the shorter transcript but encodes the supported protein.
    Source sequence(s)
    BC028424, CK001659, CR933651
    Consensus CDS
    CCDS11286.1
    UniProtKB/Swiss-Prot
    Q8WZ73
    Related
    ENSP00000378096.2, OTTHUMP00000163860, ENST00000394597.6, OTTHUMT00000256463
    Conserved Domains (3) summary
    cd15770
    Location:4492
    FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins
    pfam13920
    Location:312356
    zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
    pfam15439
    Location:149232
    NYAP_N; Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter

RNA

  1. NR_037713.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) uses an alternate 5' exon, compared to variant 2. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with the translation of the downstream ORF, as found in variant 2. Translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK093112, BC028424, BG771625, CR933651, DB459719

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    35009112..35089329 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_057178.3: Suppressed sequence

    Description
    NM_057178.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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