FBXL3 (F-box and leucine rich repeat protein 3)

2014-08-01  

Identity

HGNC
FBXL3
LOCATION
13q22.3
LOCUSID
26224
ALIAS
FBL3,FBL3A,FBXL3A,IDDSFAS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26224
MIM: 605653
HGNC: 13599
Ensembl: ENSG00000005812

Variants:

dbSNP: 26224
ClinVar: 26224
TCGA: ENSG00000005812
COSMIC: FBXL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000005812ENST00000355619Q9UKT7
ENSG00000005812ENST00000417323C9J0Y7

Expression (GTEx)

0
50
100
150
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
Circadian rhythmKEGGko04710
Circadian rhythmKEGGhsa04710
Metabolism of proteinsREACTOMER-HSA-392499
Protein foldingREACTOMER-HSA-391251
Chaperonin-mediated protein foldingREACTOMER-HSA-390466
Association of TriC/CCT with target proteins during biosynthesisREACTOMER-HSA-390471
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168
Circadian ClockREACTOMER-HSA-400253

References

Pubmed IDYearTitleCitations
304812852019Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.8
305943302019FBXL3 is regulated by miRNA-4735-3p and suppresses cell proliferation and migration in non-small cell lung cancer.8
304812852019Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.8
305943302019FBXL3 is regulated by miRNA-4735-3p and suppresses cell proliferation and migration in non-small cell lung cancer.8
287494702017miR-181d and c-myc-mediated inhibition of CRY2 and FBXL3 reprograms metabolism in colorectal cancer.36
287494702017miR-181d and c-myc-mediated inhibition of CRY2 and FBXL3 reprograms metabolism in colorectal cancer.36
275291272016A Cryptochrome 2 mutation yields advanced sleep phase in humans.58
278400262016CRY2 and FBXL3 Cooperatively Degrade c-MYC.96
275291272016A Cryptochrome 2 mutation yields advanced sleep phase in humans.58
278400262016CRY2 and FBXL3 Cooperatively Degrade c-MYC.96
262436282015Highly Efficient Genome Editing via CRISPR/Cas9 to Create Clock Gene Knockout Cells.11
262436282015Highly Efficient Genome Editing via CRISPR/Cas9 to Create Clock Gene Knockout Cells.11
235036622013SCF(FBXL3) ubiquitin ligase targets cryptochromes at their cofactor pocket.124
236165242013Distinct and separable roles for endogenous CRY1 and CRY2 within the circadian molecular clockwork of the suprachiasmatic nucleus, as revealed by the Fbxl3(Afh) mutation.36
240853012013Substrate binding promotes formation of the Skp1-Cul1-Fbxl3 (SCF(Fbxl3)) protein complex.19

Citation

Dessen P

FBXL3 (F-box and leucine rich repeat protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54314