FBLIM1 (filamin binding LIM protein 1)

2008-01-01 Affiliation

Identity

HGNC

FBLIM1

LOCATION

1p36.21

LOCUSID

54751

ALIAS

CAL,FBLP-1,FBLP1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 54751
MIM: 607747
HGNC: 24686
Ensembl: ENSG00000162458

Variants:

dbSNP: 54751
ClinVar: 54751
TCGA: ENSG00000162458
COSMIC: FBLIM1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000162458	ENST00000332305	Q8WUP2
ENSG00000162458	ENST00000375766	Q8WUP2
ENSG00000162458	ENST00000375771	Q8WUP2
ENSG00000162458	ENST00000430076	Q5VVD3
ENSG00000162458	ENST00000431771	E7EPI5
ENSG00000162458	ENST00000441801	Q8WUP2
ENSG00000162458	ENST00000483633	E7EN81
ENSG00000162458	ENST00000496928	D6R9V9
ENSG00000162458	ENST00000502638	D6R9I4
ENSG00000162458	ENST00000502739	E7EWE8
ENSG00000162458	ENST00000508310	D6RA19
ENSG00000162458	ENST00000510393	D6RAI6
ENSG00000162458	ENST00000510929	D6RAI8

Expression (GTEx)

100

200

300

400

500

600

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

Pathway	Source	External ID
Cell-Cell communication	REACTOME	R-HSA-1500931
Cell junction organization	REACTOME	R-HSA-446728
Cell-extracellular matrix interactions	REACTOME	R-HSA-446353

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19074766	2009	Migfilin, a molecular switch in regulation of integrin activation.	57
18829455	2008	Structural basis of the migfilin-filamin interaction and competition with integrin beta tails.	50
15701922	2005	Migfilin and its binding partners: from cell biology to human diseases.	29
16531412	2006	Migfilin interacts with vasodilator-stimulated phosphoprotein (VASP) and regulates VASP localization to cell-matrix adhesions and migration.	28
30053867	2018	circFBLIM1 act as a ceRNA to promote hepatocellular cancer progression by sponging miR-346.	28
18528435	2008	Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.	27
22043318	2011	Migfilin and filamin as regulators of integrin activation in endothelial cells and neutrophils.	25
12496242	2003	A new member of the LIM protein family binds to filamin B and localizes at stress fibers.	17
28301468	2017	Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).	17
19833732	2009	Migfilin interacts with Src and contributes to cell-matrix adhesion-mediated survival signaling.	16

Citation

Dessen P

FBLIM1 (filamin binding LIM protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-01-01

Online version: http://atlasgeneticsoncology.org/gene/49967/fblim1