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

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, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 17.6), placenta adult (RPKM 7.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EGF, which signals through CRAF, and an activated BRAF mutant also activate PKC and stimulate cell migration through up-regulating RFFL expression.
Title: Different Raf protein kinases mediate different signaling pathways to stimulate E3 ligase RFFL gene expression in cell migration regulation.
CARP2 [Rififylin] deficiency does not alter induction of NF-kappaB by TNFalpha.
Title: CARP2 deficiency does not alter induction of NF-kappaB by TNFalpha.
Data show that the the amino-terminal domain of rififylin is critical for its recruitment to recycling endocytic membranes and for the inhibition of recycling.
Title: Over-expression of Rififylin, a new RING finger and FYVE-like domain-containing protein, inhibits recycling from the endocytic recycling compartment.

Submit: New GeneRIF Correction

Variation

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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

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Markers

D10Chm132 (e-PCR)
- UniSTS:518401

RH125886 (e-PCR)
- UniSTS:141832

NoName (e-PCR)
- UniSTS:493328

BG080975 (e-PCR), detects polymorphism
- UniSTS:259410

NoName (e-PCR)
- UniSTS:236670

527G2-T7 (e-PCR), detects polymorphism
- UniSTS:209561

D11Pas70 (e-PCR), detects polymorphism
- UniSTS:259488

D11Pas73 (e-PCR), detects polymorphism
- UniSTS:259491

D11Pas74 (e-PCR), detects polymorphism
- UniSTS:259492

29.MMHAP71FLB5.seq (e-PCR), detects polymorphism
- UniSTS:123873

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

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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

EC 2.3.2.27

NP_001158041.1

EC 2.3.2.27

NP_001158042.1

EC 2.3.2.27

NP_001158043.1

EC 2.3.2.27

NP_080373.1

EC 2.3.2.27

XP_006534050.1

EC 2.3.2.27

XP_006534051.1

EC 2.3.2.27

XP_006534052.1

EC 2.3.2.27

XP_006534053.2

EC 2.3.2.27

XP_017170204.1

EC 2.3.2.27

XP_030102107.1

EC 2.3.2.27

XP_036012800.1

EC 2.3.2.27

XP_036012801.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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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)

NM_001007465.3 → NP_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: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
NM_001164569.1 → NP_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:79 → 127

FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins

cd16500
Location:350 → 388

RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins
NM_001164570.1 → NP_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:58 → 106

FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins

cd16500
Location:329 → 367

RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins
NM_001164571.1 → NP_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:285 → 329

zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)

cl22851
Location:44 → 93

PHD_SF; PHD finger superfamily
NM_026097.3 → NP_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:44 → 92

FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins

cd16500
Location:287 → 325

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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

82694645..82762065 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q148A8

Conserved Domains (2) summary

cd15770
Location:44 → 92

FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins

cd16500
Location:287 → 325

RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins
XM_036156907.1 → XP_036012800.1 E3 ubiquitin-protein ligase rififylin isoform X3

UniProtKB/Swiss-Prot

Q5SVC2, Q5SVC4, Q6ZQM0, Q9D543, Q9D9B1

Conserved Domains (2) summary

cd15770
Location:58 → 106

FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins

cd16500
Location:329 → 367

RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins
XM_017314715.3 → XP_017170204.1 E3 ubiquitin-protein ligase rififylin isoform X2

UniProtKB/TrEMBL

Q3UCG9

Conserved Domains (2) summary

cd15770
Location:79 → 127

FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins

cd16500
Location:350 → 388

RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins
XM_006533990.4 → XP_006534053.2 E3 ubiquitin-protein ligase rififylin isoform X1

Conserved Domains (2) summary

cd15770
Location:113 → 161

FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins

cd16500
Location:384 → 422

RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins
XM_036156908.1 → XP_036012801.1 E3 ubiquitin-protein ligase rififylin isoform X6

UniProtKB/TrEMBL

Q148A8

Conserved Domains (2) summary

cd15770
Location:44 → 92

FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins

cd16500
Location:287 → 325

RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins
XM_006533989.4 → XP_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: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
XM_006533988.3 → XP_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: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
XM_006533987.4 → XP_006534050.1 E3 ubiquitin-protein ligase rififylin isoform X4

Conserved Domains (2) summary

cd15770
Location:79 → 127

FYVE_CARP2; FYVE-like domain found in caspase regulator CARP2 and similar proteins

cd16500
Location:322 → 360

RING-HC_CARP; RING finger, HC subclass, found in caspases-8 and -10-associated RING finger protein CARP-1, CARP-2 and similar proteins