Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54751
Gene name Gene Name - the full gene name approved by the HGNC.
Filamin binding LIM protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FBLIM1
Synonyms (NCBI Gene) Gene synonyms aliases
CAL, FBLP-1, FBLP1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.21
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin cytoskeleton. This prot
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018620 hsa-miR-335-5p Microarray 18185580
MIRT022980 hsa-miR-124-3p Microarray 18668037
MIRT678333 hsa-miR-6813-3p HITS-CLIP 23824327
MIRT678332 hsa-miR-125a-3p HITS-CLIP 23824327
MIRT678331 hsa-miR-764 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0001725 Component Stress fiber IBA 21873635
GO:0001725 Component Stress fiber IDA 18829455
GO:0005515 Function Protein binding IPI 19828450, 21524097, 25416956, 31515488, 32296183
GO:0005737 Component Cytoplasm IDA 18528435
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607747 24686 ENSG00000162458
Protein
UniProt ID Q8WUP2
Protein name Filamin-binding LIM protein 1 (FBLP-1) (Migfilin) (Mitogen-inducible 2-interacting protein) (MIG2-interacting protein)
Protein function Serves as an anchoring site for cell-ECM adhesion proteins and filamin-containing actin filaments. Is implicated in cell shape modulation (spreading) and motility. May participate in the regulation of filamin-mediated cross-linking and stabiliza
PDB 2K9U , 2W0P , 4P3W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00412 LIM 183 240 LIM domain Domain
PF00412 LIM 243 299 LIM domain Domain
PF00412 LIM 303 368 LIM domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 and isoform 3 are expressed in heart, kidney, lung, pancreas, placenta and platelets. Isoform 2 is expressed in brain, heart, kidney, lung, pancreas, placenta, skeletal muscle and platelets. {ECO:0000269|PubMed:12496242}.
Sequence
MASKPEKRVASSVFITLAPPRRDVAVAEEVRQAVCEARRGRPWEAPAPMKTPEAGLAGRP
SPWTTPGRAAATVPAAPMQLFNGGCPPPPPVLDGEDVLPDLDLLPPPPPPPPVLLPSEEE
APAPMGASLIADLEQLHLSPPPPPPQAPAEGPSVQPGPLRPMEEELPPPPAEPVEKGAST
DICAFCHKTVSPRELAVEAMKRQYHAQCFTCRTCRRQLAGQSFYQKDGRPLCEPCYQDTL
ERCGKCGEVVRDHIIRALGQAFHPSCFTCVTCARCIGDESFALGSQNEVYCLDDFYRKFA
PVCSICENPIIPRDGKDAFKIECMGRNFHENCYRCEDCRILLSVEPTDQGCYPLNNHLFC
KPCHVKRS
AAGCC
Sequence length 373
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Cell-extracellular matrix interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Majeed syndrome Majeed syndrome rs80338807, rs80338806, rs80338808, rs876660982, rs916009547, rs750126005, rs1598522408, rs2077113045, rs2077209051 29912021
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Associate 37779184
Bone Diseases Associate 32650789
Breast Neoplasms Associate 28209486
Carcinogenesis Associate 18722108
Carcinoma Non Small Cell Lung Associate 23098063
Choroidal Effusions Associate 23099104
Colorectal Neoplasms Associate 37779184
Complement Component 6 Deficiency Inhibit 36076540
Diabetes Mellitus Type 1 Associate 12030374
Esophageal Neoplasms Inhibit 22246236