RFFL (ring finger and FYVE like domain containing E3 ubiquitin protein ligase)

2013-12-01  

Identity

HGNC
RFFL
LOCATION
17q12
LOCUSID
117584
ALIAS
CARP-2,CARP2,FRING,RIFIFYLIN,RNF189,RNF34L
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 117584
MIM: 609735
HGNC: 24821
Ensembl: ENSG00000092871

Variants:

dbSNP: 117584
ClinVar: 117584
TCGA: ENSG00000092871
COSMIC: RFFL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000092871ENST00000315249Q8WZ73
ENSG00000092871ENST00000394597Q8WZ73
ENSG00000092871ENST00000413582Q8WZ73
ENSG00000092871ENST00000414419C9JE27
ENSG00000092871ENST00000415395Q8WZ73
ENSG00000092871ENST00000447669Q8WZ73
ENSG00000092871ENST00000581039J3KSU7
ENSG00000092871ENST00000581265J3QR17
ENSG00000092871ENST00000582308J3KSI3
ENSG00000092871ENST00000584655Q8WZ73

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
Regulation of TP53 ActivityREACTOMER-HSA-5633007
Regulation of TP53 Expression and DegradationREACTOMER-HSA-6806003
Regulation of TP53 DegradationREACTOMER-HSA-6804757

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
193054082009Common variants at ten loci influence QT interval duration in the QTGEN Study.190
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.16
184504522008CARP-2 is an endosome-associated ubiquitin ligase for RIP and regulates TNF-induced NF-kappaB activation.15
183821272008CARPs enhance p53 turnover by degrading 14-3-3sigma and stabilizing MDM2.13
288277892017Positional cloning of quantitative trait nucleotides for blood pressure and cardiac QT-interval by targeted CRISPR/Cas9 editing of a novel long non-coding RNA.9
213087452011Destabilization of CARP mRNAs by aloe-emodin contributes to caspase-8-mediated p53-independent apoptosis of human carcinoma cells.8
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.6
241148432013Different Raf protein kinases mediate different signaling pathways to stimulate E3 ligase RFFL gene expression in cell migration regulation.4
304017472019Trafficking of the human ether-a-go-go-related gene (hERG) potassium channel is regulated by the ubiquitin ligase rififylin (RFFL).2
306591202019The integral function of the endocytic recycling compartment is regulated by RFFL-mediated ubiquitylation of Rab11 effectors.2

Citation

Dessen P

RFFL (ring finger and FYVE like domain containing E3 ubiquitin protein ligase)

Atlas Genet Cytogenet Oncol Haematol. 2013-12-01

Online version: http://atlasgeneticsoncology.org/gene/53751/rffl