Rffl Gene Detail

Summary

• Symbol
  Rffl
• Name
  ring finger and FYVE like domain containing protein
• Synonyms
  1700051E09Rik, 4930516L10Rik, Carp2, Carp-2, fring, rififylin

• Feature Type
  protein coding gene
• IDs
  MGI:1914588
  NCBI Gene: 67338
• Gene Overview
  MyGene.info: RFFL

Location & Maps

• Sequence Map
  Chr11:82802449-82846092 bp, - strand
• From VEGA annotation of GRCm38
  

  Mouse Genome Browser
  
  

• Download
  Sequence
    43644 bp   ±  kb flank
  
  
• Genome Browsers
  VEGA | Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 11, 50.25 cM, cytoband B5
• Mapping Data
  3 experiments

Homology

• Human Ortholog
  RFFL, ring finger and FYVE like domain containing E3 ubiquitin protein ligase

• Vertebrate Orthologs
  9

• Human Ortholog
  RFFL, ring finger and FYVE like domain containing E3 ubiquitin protein ligase
  Orthology source: HomoloGene, HGNC
• Synonyms
  CARP2, CARP-2, FRING, RIFIFYLIN, RNF189, RNF34L
• Links
  HGNC:24821

  NCBI Gene ID: 117584

  neXtProt AC: NX_Q8WZ73

  UniProt: Q8WZ73

  
  
• Chr Location
  17q12; chr17:35009112-35089329 (-)  GRCh38.p7

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• HomoloGene
  Vertebrate Homology Class 12116
  1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  
• HCOP
  human homology predictions: RFFL
• Gene Tree
  Rffl
  

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  1 phenotype from 1 allele in 1 genetic background
  14 phenotype references
  

• All Mutations and Alleles
  37
• Chemically induced (other)
  1
• Gene trapped
  34
• Targeted
  2
• Genomic Mutations
  2 involving Rffl
• Incidental Mutations
  Mutagenetix , APF , CvDC
• Find Mice (IMSR)
  40 strains or lines available

Mice homozygous for an inactivating targeted mutation of this gene are born at the expected Mendelian frequency; they are viable and fertile and exhibit no apparent abnormal phenotype.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  25
• GO References
  4

• External Resources
  FuncBase

Expression

• Assay Results
  87
• Tissues
  63
• cDNA Data
  14
• Literature Summary
  4

Images

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase rffl

Interactions

• Rffl interacts with 302 markers (Mir1b, Mir7-1, Mir9-1, ...) View All

Sequences &
Gene Models

• All Sequences
  78
• RefSeq
  20
• UniProt
  8
• CCDS
  CCDS25148.1, CCDS25149.1, CCDS48867.1, CCDS48868.1

• VEGA
  OTTMUSG00000000906 (Evidence)
• Ensembl
  ENSMUSG00000020696 (Evidence)
• NCBI Gene
  67338

Representative Sequences			Length	Strain/Species
genomic	OTTMUSG00000000906	VEGA Gene Model | MGI Sequence Detail	43644	C57BL/6J
transcript	OTTMUST00000001763	VEGA | MGI Sequence Detail	4973	Not Applicable
polypeptide	OTTMUSP00000000841	VEGA | MGI Sequence Detail	363	Not Applicable

Polymorphisms

• SNPs within 2kb
  290 from dbSNP Build 142

Protein
Information

• UniProt
  8 Sequences
• Protein Ontology
  PR:000013910 E3 ubiquitin-protein ligase rififylin
  (term hierarchy)
• EC
  2.3.2.27
• InterPro Domains
  IPR003034 SAP domain
  IPR011011 Zinc finger, FYVE/PHD-type
  IPR013083 Zinc finger, RING/FYVE/PHD-type
  IPR001841 Zinc finger, RING-type

Molecular
Reagents

• All nucleic 17

  cDNA 16

  Primer pair 1

  
  

  Microarray probesets 7

Other
Accession IDs

MGI:1922384, MGI:2671013

References

• Summaries
  All 45

  Developmental Gene Expression 4

  Gene Ontology 4

  Phenotypes 14
• Earliest
  J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
• Latest
  J:190487 Gan X, et al., PRR5L degradation promotes mTORC2-mediated PKC-delta phosphorylation and cell migration downstream of Galpha12. Nat Cell Biol. 2012 Jul;14(7):686-96