LRRFIP1 (LRR binding FLII interacting protein 1)

2012-11-01  

Identity

HGNC
LRRFIP1
LOCATION
2q37.3
LOCUSID
9208
ALIAS
FLAP-1,FLAP1,FLIIAP1,GCF-2,GCF2,HUFI-1,TRIP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9208
MIM: 603256
HGNC: 6702
Ensembl: ENSG00000124831

Variants:

dbSNP: 9208
ClinVar: 9208
TCGA: ENSG00000124831
COSMIC: LRRFIP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124831ENST00000244815Q32MZ4
ENSG00000124831ENST00000289175Q32MZ4
ENSG00000124831ENST00000289175A0A0F7NGI8
ENSG00000124831ENST00000308482Q32MZ4
ENSG00000124831ENST00000392000Q32MZ4
ENSG00000124831ENST00000420665C9JTC6

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
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by FGFR in diseaseREACTOMER-HSA-1226099
Signaling by FGFR1 in diseaseREACTOMER-HSA-5655302
FGFR1 mutant receptor activationREACTOMER-HSA-1839124
Signaling by cytosolic FGFR1 fusion mutantsREACTOMER-HSA-1839117
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Cytosolic sensors of pathogen-associated DNAREACTOMER-HSA-1834949
LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN productionREACTOMER-HSA-3134973

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid 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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
208339762010Transcription profiling in human platelets reveals LRRFIP1 as a novel protein regulating platelet function.33
192651232009Modulation of TLR signaling by multiple MyD88-interacting partners including leucine-rich repeat Fli-I-interacting proteins.26
161998832005GCF2/LRRFIP1 represses tumor necrosis factor alpha expression.23
227500952012GCF2/LRRFIP1 promotes colorectal cancer metastasis and liver invasion through integrin-dependent RhoA activation.15
235051852013A variant in the LRRFIP1 gene is associated with adiposity and inflammation.11
245675342014Noncoding RNAs and LRRFIP1 regulate TNF expression.11
260475732015Silencing of LRRFIP1 reverses the epithelial-mesenchymal transition via inhibition of the Wnt/β-catenin signaling pathway.11
211026522010Characterization of LRRFIP1.9
230990212013Crystal structure of the dimeric coiled-coil domain of the cytosolic nucleic acid sensor LRRFIP1.6

Citation

Dessen P

LRRFIP1 (LRR binding FLII interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53021/lrrfip1