• Gene id: 54751

Gene Summary

• Gene Symbol: FBLIM1   Gene   UCSC   Ensembl
• Aliases: CAL, FBLP-1, FBLP1
• Gene name: filamin binding LIM protein 1
• Alternate names: filamin-binding LIM protein 1, CSX-associated LIM, MIG2-interacting protein, migfilin, mitogen-inducible 2 interacting protein,
• Gene location: 1p36.21 (15756169: 15786589)     Exons: 13     NC_000001.11
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q8WUP2  
  • Name: Filamin binding LIM protein 1 (FBLP 1) (Migfilin) (Mitogen inducible 2 interacting protein) (MIG2 interacting protein)
  • Length: 373  
  • Mass: 40670
  • 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
• Sequence:

  MASKPEKRVASSVFITLAPPRRDVAVAEEVRQAVCEARRGRPWEAPAPMKTPEAGLAGRPSPWTTPGRAAATVPA
  APMQLFNGGCPPPPPVLDGEDVLPDLDLLPPPPPPPPVLLPSEEEAPAPMGASLIADLEQLHLSPPPPPPQAPAE
  GPSVQPGPLRPMEEELPPPPAEPVEKGASTDICAFCHKTVSPRELAVEAMKRQYHAQCFTCRTCRRQLAGQSFYQ
  KDGRPLCEPCYQDTLERCGKCGEVVRDHIIRALGQAFHPSCFTCVTCARCIGDESFALGSQNEVYCLDDFYRKFA
  PVCSICENPIIPRDGKDAFKIECMGRNFHENCYRCEDCRILLSVEPTDQGCYPLNNHLFCKPCHVKRSAAGCC

• Structural information:
  • Protein Domains: (181..24-)
    1 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (243..30-)
    2 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (301..37-)
    3 (/note="LIM-zinc-binding)
    (/evidence="ECO-)
  • Interpro: IPR001781  
  • Prosite: PS00478 PS50023
  • PDB: 2K9U 2W0P 4P3W
  • PDBsum: 2K9U 2W0P 4P3W
  • STRING: ENSP00000416387
• Other Databases: GeneCards:  FBLIM1  Malacards:  FBLIM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0031005	filamin binding	IBA	molecular function
GO:0005925	focal adhesion	IBA	cellular component
GO:0001725	stress fiber	IBA	cellular component
GO:0031005	filamin binding	IDA	molecular function
GO:0001725	stress fiber	IDA	cellular component
GO:0033623	regulation of integrin activation	IMP	biological process
GO:0098609	cell-cell adhesion	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0008360	regulation of cell shape	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0034329	cell junction assembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)