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    Rffl ring finger and FYVE like domain containing protein [ Mus musculus (house mouse) ]

    Gene ID: 67338, updated on 9-Dec-2024

    Summary

    Official Symbol
    Rfflprovided by MGI
    Official Full Name
    ring finger and FYVE like domain containing proteinprovided by MGI
    Primary source
    MGI:MGI:1914588
    See related
    Ensembl:ENSMUSG00000020696 AllianceGenome:MGI:1914588
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Carp2; 1700051E09Rik; 4930516L10Rik
    Summary
    Predicted to enable enzyme binding activity; p53 binding activity; and ubiquitin protein ligase activity. Involved in regulation of fibroblast migration. Acts upstream of or within intracellular protein transport. Located in cytoplasmic vesicle. Is expressed in several structures, including central nervous system; genitourinary system; hemolymphoid system gland; liver; and retina nuclear layer. Orthologous to human RFFL (ring finger and FYVE like domain containing E3 ubiquitin protein ligase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 17.6), placenta adult (RPKM 7.7) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Rffl in Genome Data Viewer
    Location:
    11 C; 11 50.25 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (82694645..82762065, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (82803819..82871236, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E7027 Neighboring gene zinc finger protein 830 Neighboring gene predicted gene 11423 Neighboring gene ligase III, DNA, ATP-dependent Neighboring gene STARR-seq mESC enhancer starr_30179 Neighboring gene RAD51 paralog D Neighboring gene STARR-positive B cell enhancer ABC_E8433 Neighboring gene fibronectin type III domain containing 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Gene trapped (1) 
    • Targeted (1)  1 citation

    General gene information

    Markers

    Clone Names

    • MGC144763

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables p53 binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protease binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ubiquitin protein ligase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ubiquitin protein ligase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within intracellular protein transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cysteine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of cysteine-type endopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of signal transduction by p53 class mediator ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of signal transduction by p53 class mediator ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of tumor necrosis factor-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of tumor necrosis factor-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein K48-linked ubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein K48-linked ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of fibroblast migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase rififylin
    Names
    RING finger and FYVE-like domain-containing protein 1
    RING-type E3 ubiquitin transferase rififylin
    fring
    rififylin
    NP_001007466.1
    NP_001158041.1
    NP_001158042.1
    NP_001158043.1
    NP_080373.1
    XP_006534050.1
    XP_006534051.1
    XP_006534052.1
    XP_006534053.2
    XP_017170204.1
    XP_030102107.1
    XP_036012800.1
    XP_036012801.1

    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_001007465.3NP_001007466.1  E3 ubiquitin-protein ligase rififylin isoform 1

      See identical proteins and their annotated locations for NP_001007466.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AI850798, AK150213, AK169393, AL646089, CJ097615
      Consensus CDS
      CCDS25148.1
      UniProtKB/TrEMBL
      Q3UD78
      Related
      ENSMUSP00000103808.4, ENSMUST00000108173.10
      Conserved Domains (2) summary
      cd15770
      Location:4492
      FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins
      cd16500
      Location:315353
      RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins
    2. NM_001164569.1NP_001158041.1  E3 ubiquitin-protein ligase rififylin isoform 3

      See identical proteins and their annotated locations for NP_001158041.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) includes an additional segment in the 5' UTR and 5' coding region, and uses an alternate translational start codon, compared to variant 1. The resulting isoform (3) is longer at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AI850798, AK150541, AL645594, AL646089
      Consensus CDS
      CCDS48868.1
      UniProtKB/TrEMBL
      Q3UCG9
      Related
      ENSMUSP00000071150.8, ENSMUST00000071152.14
      Conserved Domains (2) summary
      cd15770
      Location:79127
      FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins
      cd16500
      Location:350388
      RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins
    3. NM_001164570.1NP_001158042.1  E3 ubiquitin-protein ligase rififylin isoform 4

      See identical proteins and their annotated locations for NP_001158042.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, and uses an alternate translational start codon, compared to variant 1. The resulting isoform (4) is longer at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AI850798, AL645594, AL646089
      Consensus CDS
      CCDS48867.1
      UniProtKB/Swiss-Prot
      Q5SVC2, Q5SVC4, Q6ZQM0, Q9D543, Q9D9B1
      Related
      ENSMUSP00000091510.6, ENSMUST00000093975.12
      Conserved Domains (2) summary
      cd15770
      Location:58106
      FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins
      cd16500
      Location:329367
      RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins
    4. NM_001164571.1NP_001158043.1  E3 ubiquitin-protein ligase rififylin isoform 5

      See identical proteins and their annotated locations for NP_001158043.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (5) is shorter than isoform 1.
      Source sequence(s)
      AI850798, AK169393, AL646089, CJ097615
      UniProtKB/TrEMBL
      Q3TEV8
      Conserved Domains (2) summary
      pfam13920
      Location:285329
      zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
      cl22851
      Location:4493
      PHD_SF; PHD finger superfamily
    5. NM_026097.3NP_080373.1  E3 ubiquitin-protein ligase rififylin isoform 2

      See identical proteins and their annotated locations for NP_080373.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AI850798, AK015806, AK028095, AK169393
      Consensus CDS
      CCDS25149.1
      UniProtKB/TrEMBL
      Q148A8
      Related
      ENSMUSP00000021036.7, ENSMUST00000021036.13
      Conserved Domains (2) summary
      cd15770
      Location:4492
      FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins
      cd16500
      Location:287325
      RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      82694645..82762065 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030246247.2XP_030102107.1  E3 ubiquitin-protein ligase rififylin isoform X6

      UniProtKB/TrEMBL
      Q148A8
      Conserved Domains (2) summary
      cd15770
      Location:4492
      FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins
      cd16500
      Location:287325
      RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins
    2. XM_036156907.1XP_036012800.1  E3 ubiquitin-protein ligase rififylin isoform X3

      UniProtKB/Swiss-Prot
      Q5SVC2, Q5SVC4, Q6ZQM0, Q9D543, Q9D9B1
      Conserved Domains (2) summary
      cd15770
      Location:58106
      FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins
      cd16500
      Location:329367
      RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins
    3. XM_017314715.3XP_017170204.1  E3 ubiquitin-protein ligase rififylin isoform X2

      UniProtKB/TrEMBL
      Q3UCG9
      Conserved Domains (2) summary
      cd15770
      Location:79127
      FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins
      cd16500
      Location:350388
      RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins
    4. XM_006533990.4XP_006534053.2  E3 ubiquitin-protein ligase rififylin isoform X1

      Conserved Domains (2) summary
      cd15770
      Location:113161
      FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins
      cd16500
      Location:384422
      RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins
    5. XM_036156908.1XP_036012801.1  E3 ubiquitin-protein ligase rififylin isoform X6

      UniProtKB/TrEMBL
      Q148A8
      Conserved Domains (2) summary
      cd15770
      Location:4492
      FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins
      cd16500
      Location:287325
      RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins
    6. XM_006533989.4XP_006534052.1  E3 ubiquitin-protein ligase rififylin isoform X5

      See identical proteins and their annotated locations for XP_006534052.1

      UniProtKB/TrEMBL
      Q3UD78
      Conserved Domains (2) summary
      cd15770
      Location:4492
      FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins
      cd16500
      Location:315353
      RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins
    7. XM_006533988.3XP_006534051.1  E3 ubiquitin-protein ligase rififylin isoform X5

      See identical proteins and their annotated locations for XP_006534051.1

      UniProtKB/TrEMBL
      Q3UD78
      Related
      ENSMUSP00000074108.5, ENSMUST00000074515.11
      Conserved Domains (2) summary
      cd15770
      Location:4492
      FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins
      cd16500
      Location:315353
      RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins
    8. XM_006533987.4XP_006534050.1  E3 ubiquitin-protein ligase rififylin isoform X4

      Conserved Domains (2) summary
      cd15770
      Location:79127
      FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins
      cd16500
      Location:322360
      RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins