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Gene Gene information from NCBI Gene database.
Entrez ID 54751
Gene name Filamin binding LIM protein 1
Gene symbol FBLIM1
Synonyms (NCBI Gene)
CALFBLP-1FBLP1
Chromosome 1
Chromosome location 1p36.21
Summary 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.
398 Show/Hide all (398)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24 Show/Hide all (24)
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0001725 Component Stress fiber IBA
GO:0001725 Component Stress fiber IDA 18829455
GO:0001725 Component Stress fiber IEA
GO:0005515 Function Protein binding IPI 19828450, 21524097, 25416956, 31515488, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607747 24686 ENSG00000162458
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 Pathway
Cell-extracellular matrix interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Clear cell carcinoma of kidney Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (72)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 28125433
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 28125433
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 17914111, 29563163
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 29114925
★★★★★
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 29235459
★★★★★
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone disease Pubtator 32650789 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15695379, 23645746, 28475971, 29299117, 30388503
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 28209486 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 18722108 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 28125433
★★★★★
★☆☆☆☆
Found in Text Mining only