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FBLIM1 filamin binding LIM protein 1 [ Homo sapiens (human) ]

Gene ID: 54751, updated on 7-Dec-2018

Summary

Official Symbol
FBLIM1provided by HGNC
Official Full Name
filamin binding LIM protein 1provided by HGNC
Primary source
HGNC:HGNC:24686
See related
Ensembl:ENSG00000162458 MIM:607747
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAL; FBLP1; FBLP-1
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 protein may be involved in the assembly and stabilization of actin-filaments and likely plays a role in modulating cell adhesion, cell morphology and cell motility. This protein also localizes to the nucleus and may affect cardiomyocyte differentiation after binding with the CSX/NKX2-5 transcription factor. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression
Broad expression in gall bladder (RPKM 17.5), colon (RPKM 14.6) and 22 other tissues See more
Orthologs

Genomic context

See FBLIM1 in Genome Data Viewer
Location:
1p36.21
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (15756170..15786594)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16083107..16113089)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 34 Neighboring gene SLC25A34 and TMEM82 antisense RNA 1 Neighboring gene transmembrane protein 82 Neighboring gene ribosomal protein L12 pseudogene 14 Neighboring gene ubiquinol-cytochrome c reductase hinge protein like

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of filamin binding LIM protein 1 (FBLIM1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434G171

Gene Ontology Provided by GOA

Function Evidence Code Pubs
filamin binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell junction assembly TAS
Traceable Author Statement
more info
 
cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell shape IEA
Inferred from Electronic Annotation
more info
 
regulation of integrin activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
fibrillar center IDA
Inferred from Direct Assay
more info
 
focal adhesion HDA PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
 
stress fiber IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
filamin-binding LIM protein 1
Names
CSX-associated LIM
MIG2-interacting protein
migfilin
mitogen-inducible 2 interacting protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001024215.1NP_001019386.1  filamin-binding LIM protein 1 isoform b

    See identical proteins and their annotated locations for NP_001019386.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks multiple 3' exons and contains an extra segment with an early stop codon, compared to variant 1. The encoded protein (isoform b) is longer and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AF459643, AL450998, CN278745
    Consensus CDS
    CCDS44064.1
    UniProtKB/Swiss-Prot
    Q8WUP2
    Related
    ENSP00000416387.2, ENST00000441801.6
    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cd08368
    Location:183236
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  2. NM_001024216.2NP_001019387.1  filamin-binding LIM protein 1 isoform c

    See identical proteins and their annotated locations for NP_001019387.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks multiple alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform c), compared to isoform a.
    Source sequence(s)
    AK027444, AK055259, AL133035, AW069718
    Consensus CDS
    CCDS30609.1
    UniProtKB/Swiss-Prot
    Q8WUP2
    Related
    ENSP00000364920.2, ENST00000332305.5
    Conserved Domains (2) summary
    cd09372
    Location:146198
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cl02475
    Location:206267
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  3. NM_001350151.1NP_001337080.1  filamin-binding LIM protein 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 encode the same protein (isoform a).
    Source sequence(s)
    AL133035, AW069718, BC019895
    Consensus CDS
    CCDS163.1
    Related
    ENSP00000364926.1, ENST00000375771.5
    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cl02475
    Location:303364
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  4. NM_017556.4NP_060026.2  filamin-binding LIM protein 1 isoform a

    See identical proteins and their annotated locations for NP_060026.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a. Variants 1 and 4 encode the same protein (isoform a).
    Source sequence(s)
    AK055259, AL133035, AW069718
    Consensus CDS
    CCDS163.1
    UniProtKB/Swiss-Prot
    Q8WUP2
    Related
    ENSP00000364921.3, ENST00000375766.7
    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cl02475
    Location:303364
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    15756170..15786594
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001521.2XP_016857010.1  filamin-binding LIM protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q8WUP2
    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cd08368
    Location:183236
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  2. XM_017001519.2XP_016857008.1  filamin-binding LIM protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q8WUP2
    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cd08368
    Location:183236
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  3. XM_017001520.2XP_016857009.1  filamin-binding LIM protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q8WUP2
    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cd08368
    Location:183236
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  4. XM_006710704.3XP_006710767.1  filamin-binding LIM protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006710767.1

    UniProtKB/Swiss-Prot
    Q8WUP2
    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cd08368
    Location:183236
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  5. XM_011541616.2XP_011539918.1  filamin-binding LIM protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011539918.1

    UniProtKB/Swiss-Prot
    Q8WUP2
    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cd08368
    Location:183236
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  6. XM_006710705.1XP_006710768.1  filamin-binding LIM protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006710768.1

    UniProtKB/Swiss-Prot
    Q8WUP2
    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cd08368
    Location:183236
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  7. XM_011541617.2XP_011539919.1  filamin-binding LIM protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011539919.1

    UniProtKB/Swiss-Prot
    Q8WUP2
    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cl02475
    Location:303364
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  8. XM_011541618.3XP_011539920.1  filamin-binding LIM protein 1 isoform X4

    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cd08368
    Location:183236
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  9. XM_024447751.1XP_024303519.1  filamin-binding LIM protein 1 isoform X3

    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cd08368
    Location:183236
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  10. XM_017001526.2XP_016857015.1  filamin-binding LIM protein 1 isoform X5

  11. XM_005245903.1XP_005245960.1  filamin-binding LIM protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005245960.1

    UniProtKB/Swiss-Prot
    Q8WUP2
    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cd08368
    Location:183236
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  12. XM_017001525.1XP_016857014.1  filamin-binding LIM protein 1 isoform X2

    UniProtKB/Swiss-Prot
    Q8WUP2
    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cl02475
    Location:303364
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  13. XM_005245902.1XP_005245959.1  filamin-binding LIM protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005245959.1

    UniProtKB/Swiss-Prot
    Q8WUP2
    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cd08368
    Location:183236
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  14. XM_017001523.1XP_016857012.1  filamin-binding LIM protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q8WUP2
    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cd08368
    Location:183236
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  15. XM_005245900.1XP_005245957.1  filamin-binding LIM protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005245957.1

    UniProtKB/Swiss-Prot
    Q8WUP2
    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cd08368
    Location:183236
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  16. XM_017001524.1XP_016857013.1  filamin-binding LIM protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q8WUP2
    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cd08368
    Location:183236
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  17. XM_005245901.1XP_005245958.1  filamin-binding LIM protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005245958.1

    UniProtKB/Swiss-Prot
    Q8WUP2
    Conserved Domains (2) summary
    cd09372
    Location:243295
    LIM2_FBLP-1; The second LIM domain of the filamin-binding LIM protein-1 (FBLP-1)
    cd08368
    Location:183236
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
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