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

    Gene ID: 117584, updated on 10-Dec-2024

    Summary

    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; AllianceGenome:HGNC:24821
    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
    Summary
    Enables enzyme binding activity; p53 binding activity; and ubiquitin protein ligase activity. Involved in several processes, including negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis; negative regulation of signal transduction; and protein K48-linked ubiquitination. Located in endosome membrane and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 18.0), esophagus (RPKM 12.3) and 25 other tissues See more
    Orthologs
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    Genomic context

    See RFFL in Genome Data Viewer
    Location:
    17q12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (35005990..35089226, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (35953906..36037140, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (33333009..33416245, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene chaperonin containing TCP1 subunit 6B Neighboring gene Sharpr-MPRA regulatory region 18 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12049 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12050 Neighboring gene zinc finger protein 830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8432 Neighboring gene DNA ligase 3 Neighboring gene RAD51L3-RFFL readthrough Neighboring gene oligosaccharyltransferase complex subunit pseudogene 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:33354498-33354674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12054 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12052 Neighboring gene small nucleolar RNA U13 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:33390277-33391476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12057 Neighboring gene ribosomal protein L37 pseudogene 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12058 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:33416287-33416938 Neighboring gene MPRA-validated peak2815 silencer Neighboring gene RNA, U6 small nuclear 840, pseudogene Neighboring gene RAD51 paralog D Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12059 Neighboring gene fibronectin type III domain containing 8 Neighboring gene notchless homolog 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (146 hits/1308 screens)

    EBI GWAS Catalog

    Description
    Common variants at ten loci influence QT interval duration in the QTGEN Study.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Readthrough RAD51L3-RFFL

    Readthrough gene: RAD51L3-RFFL, Included gene: RAD51D

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding  
    enables p53 binding PubMed 
    enables protease binding PubMed 
    enables protein binding PubMed 
    enables protein kinase binding PubMed 
    enables ubiquitin protein ligase activity  
    enables ubiquitin protein ligase activity PubMed 
    enables ubiquitin protein ligase activity  
    enables ubiquitin protein ligase binding PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process  
    involved_in negative regulation of cysteine-type endopeptidase activity PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  
    involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors PubMed 
    involved_in negative regulation of signal transduction by p53 class mediator PubMed 
    involved_in negative regulation of tumor necrosis factor-mediated signaling pathway PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process PubMed 
    involved_in protein K48-linked ubiquitination PubMed 
    involved_in regulation of TOR signaling PubMed 
    involved_in regulation of fibroblast migration  
    involved_in regulation of signal transduction by p53 class mediator  
    involved_in ubiquitin-dependent protein catabolic process PubMed 
    involved_in ubiquitin-dependent protein catabolic process PubMed 
    Component Evidence Code Pubs
    NOT located_in Golgi membrane PubMed 
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in cytosol  
    located_in endosome membrane PubMed 
    NOT located_in lysosome PubMed 
    located_in membrane PubMed 
    located_in nucleoplasm  
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in recycling endosome membrane  

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001017368.2 → NP_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)
      AC004223, BC028424, CK001659, CR933651
      Consensus CDS
      CCDS11286.1
      UniProtKB/Swiss-Prot
      E1P633, Q8NHW0, Q8TBY7, Q8WZ73, Q96BE6
      Related
      ENSP00000378096.3, ENST00000394597.7
      Conserved Domains (2) summary
      cd15770
      Location:44 → 92
      FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins
      cd16500
      Location:315 → 353
      RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins

    RNA

    1. NR_037713.2 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)
      AC004223, AK093112, BC028424, CR933651

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      35005990..35089226 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      35953906..36037140 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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