Human Gene RFFL (ENST00000315249.11) from GENCODE V44
  Description: Homo sapiens ring finger and FYVE like domain containing E3 ubiquitin protein ligase (RFFL), transcript variant 1, non-coding RNA. (from RefSeq NR_037713)
Gencode Transcript: ENST00000315249.11
Gencode Gene: ENSG00000092871.17
Transcript (Including UTRs)
   Position: hg38 chr17:35,005,990-35,089,319 Size: 83,330 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr17:35,011,968-35,026,553 Size: 14,586 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:35,005,990-35,089,319)mRNA (may differ from genome)Protein (363 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RFFL_HUMAN
DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase rififylin; EC=6.3.2.-; AltName: Full=Caspase regulator CARP2; AltName: Full=Caspases-8 and -10-associated RING finger protein 2; Short=CARP-2; AltName: Full=FYVE-RING finger protein Sakura; Short=Fring; AltName: Full=RING finger and FYVE-like domain-containing protein 1; AltName: Full=RING finger protein 189; AltName: Full=RING finger protein 34-like;
FUNCTION: Has E3 ubiquitin protein ligase activity. Regulates the levels of CASP8 and CASP10 by targeting them for proteasomal degradation. Has anti-apoptotic activity. May bind phosphatidylinositol phosphates.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Binds CASP8 and CASP10.
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein.
TISSUE SPECIFICITY: Ubiquitous. Detected in spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes.
PTM: Rapidly degraded after stimulation with TNFSF10, probably by caspases.
PTM: Auto-ubiquitinated (in vitro) (By similarity).
PTM: Palmitoylated (By similarity).
SIMILARITY: Contains 1 FYVE-type zinc finger.
SIMILARITY: Contains 1 RING-type zinc finger.
SIMILARITY: Contains 2 SAP domains.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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Click here to open Exonprimer with this transcript

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.55 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 98.47 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -125.80223-0.564 Picture PostScript Text
3' UTR -2155.705978-0.361 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011011 - Znf_FYVE_PHD
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1Y02 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8WZ73
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002020 protease binding
GO:0002039 p53 binding
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0019901 protein kinase binding
GO:0031625 ubiquitin protein ligase binding
GO:0046872 metal ion binding
GO:0061630 ubiquitin protein ligase activity

Biological Process:
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0006915 apoptotic process
GO:0010762 regulation of fibroblast migration
GO:0010804 negative regulation of tumor necrosis factor-mediated signaling pathway
GO:0016567 protein ubiquitination
GO:0032006 regulation of TOR signaling
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0070936 protein K48-linked ubiquitination
GO:1901797 negative regulation of signal transduction by p53 class mediator
GO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:2001271 negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0055038 recycling endosome membrane
GO:0002947 tumor necrosis factor receptor superfamily complex
GO:0000139 Golgi membrane
GO:0005764 lysosome


-  Descriptions from all associated GenBank mRNAs
  HQ447207 - Synthetic construct Homo sapiens clone IMAGE:100070506; CCSB001869_01 ring finger and FYVE-like domain containing 1 (RFFL) gene, encodes complete protein.
KJ903672 - Synthetic construct Homo sapiens clone ccsbBroadEn_13066 RFFL gene, encodes complete protein.
LF209230 - JP 2014500723-A/16733: Polycomb-Associated Non-Coding RNAs.
MA444807 - JP 2018138019-A/16733: Polycomb-Associated Non-Coding RNAs.
LF327017 - JP 2014500723-A/134520: Polycomb-Associated Non-Coding RNAs.
MA562594 - JP 2018138019-A/134520: Polycomb-Associated Non-Coding RNAs.
JD243118 - Sequence 224142 from Patent EP1572962.
BC028424 - Homo sapiens ring finger and FYVE-like domain containing 1, mRNA (cDNA clone MGC:33857 IMAGE:4826613), complete cds.
CR933651 - Homo sapiens mRNA; cDNA DKFZp781O2374 (from clone DKFZp781O2374).
LF327018 - JP 2014500723-A/134521: Polycomb-Associated Non-Coding RNAs.
MA562595 - JP 2018138019-A/134521: Polycomb-Associated Non-Coding RNAs.
DQ578749 - Homo sapiens piRNA piR-46861, complete sequence.
DQ601883 - Homo sapiens piRNA piR-39949, complete sequence.
JD374548 - Sequence 355572 from Patent EP1572962.
JD293384 - Sequence 274408 from Patent EP1572962.
JD048436 - Sequence 29460 from Patent EP1572962.
JD328682 - Sequence 309706 from Patent EP1572962.
AK093112 - Homo sapiens cDNA FLJ35793 fis, clone TESTI2005784, weakly similar to INHIBITOR OF APOPTOSIS PROTEIN.
AX747930 - Sequence 1455 from Patent EP1308459.
AK097811 - Homo sapiens cDNA FLJ40492 fis, clone TESTI2044309, highly similar to DNA REPAIR PROTEIN RAD51.
JD329268 - Sequence 310292 from Patent EP1572962.
JD411403 - Sequence 392427 from Patent EP1572962.
JD228732 - Sequence 209756 from Patent EP1572962.
JD110895 - Sequence 91919 from Patent EP1572962.
JD243844 - Sequence 224868 from Patent EP1572962.
AK308689 - Homo sapiens cDNA, FLJ98730.
BC015681 - Homo sapiens ring finger and FYVE-like domain containing 1, mRNA (cDNA clone IMAGE:4651667), partial cds.
JD206266 - Sequence 187290 from Patent EP1572962.
JD279533 - Sequence 260557 from Patent EP1572962.
DQ590547 - Homo sapiens piRNA piR-57659, complete sequence.
JD335103 - Sequence 316127 from Patent EP1572962.
JD320000 - Sequence 301024 from Patent EP1572962.
JD147740 - Sequence 128764 from Patent EP1572962.
JD217987 - Sequence 199011 from Patent EP1572962.
JD304560 - Sequence 285584 from Patent EP1572962.
JD537534 - Sequence 518558 from Patent EP1572962.
JD520714 - Sequence 501738 from Patent EP1572962.
AF434816 - Homo sapiens fring mRNA, complete cds.
CU688502 - Synthetic construct Homo sapiens gateway clone IMAGE:100018109 5' read RFFL mRNA.
AY098935 - Homo sapiens FYVE-RING finger protein SAKURA mRNA, partial cds.
AB529073 - Synthetic construct DNA, clone: pF1KB4038, Homo sapiens RFFL gene for ring finger and FYVE-like domain containing 1, without stop codon, in Flexi system.
JD191462 - Sequence 172486 from Patent EP1572962.
JD394930 - Sequence 375954 from Patent EP1572962.
JD086267 - Sequence 67291 from Patent EP1572962.
MP015487 - Sequence 690 from Patent WO2019016252.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8WZ73 (Reactome details) participates in the following event(s):

R-HSA-6804441 RNF34 or RFFL ubiquitinates phosphorylated TP53
R-HSA-6804757 Regulation of TP53 Degradation
R-HSA-6806003 Regulation of TP53 Expression and Degradation
R-HSA-5633007 Regulation of TP53 Activity
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: E1P633, ENST00000315249.1, ENST00000315249.10, ENST00000315249.2, ENST00000315249.3, ENST00000315249.4, ENST00000315249.5, ENST00000315249.6, ENST00000315249.7, ENST00000315249.8, ENST00000315249.9, NR_037713, Q8NHW0, Q8TBY7, Q8WZ73, Q96BE6, RFFL_HUMAN, RNF189, RNF34L, uc002hio.1, uc002hio.2, uc002hio.3
UCSC ID: ENST00000315249.11
RefSeq Accession: NR_037713
Protein: Q8WZ73 (aka RFFL_HUMAN)
CCDS: CCDS11286.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.