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    FILIP1L filamin A interacting protein 1 like [ Homo sapiens (human) ]

    Gene ID: 11259, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FILIP1Lprovided by HGNC
    Official Full Name
    filamin A interacting protein 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:24589
    See related
    Ensembl:ENSG00000168386 MIM:612993; AllianceGenome:HGNC:24589
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DOC1; DOC-1; GIP90; GIP130
    Summary
    Predicted to be located in cytoplasm; membrane; and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in gall bladder (RPKM 44.5), urinary bladder (RPKM 29.8) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FILIP1L in Genome Data Viewer
    Location:
    3q12.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (99828811..100114501, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (102533856..102819829, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (99547655..99833345, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909401 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:99377337-99378536 Neighboring gene collagen type VIII alpha 1 chain Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20147 Neighboring gene Sharpr-MPRA regulatory region 15587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:99513015-99514014 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:99536557-99537431 Neighboring gene uncharacterized LOC105374010 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:99562339-99562840 Neighboring gene uncharacterized LOC101929357 Neighboring gene Sharpr-MPRA regulatory region 1863 Neighboring gene cms1 ribosomal small subunit homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14566 Neighboring gene Sharpr-MPRA regulatory region 14327 Neighboring gene TMEM258 pseudogene 2 Neighboring gene MPRA-validated peak4749 silencer Neighboring gene microRNA 3921 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14568 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:99792322-99792856 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:99792857-99793391 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:99809017-99809517 Neighboring gene uncharacterized LOC105374009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20151 Neighboring gene Sharpr-MPRA regulatory region 11159 Neighboring gene transmembrane protein 30C, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Downregulation of Filamin A interacting protein 1-like is associated with promoter methylation and induces an invasive phenotype in ovarian cancer. Burton ER, et al. Mol Cancer Res, 2011 Aug. PMID 21693594, Free PMC Article
    2. CpG island hypermethylation frequently silences FILIP1L isoform 2 expression in prostate cancer. Desotelle J, et al. J Urol, 2013 Jan. PMID 23174249, Free PMC Article
    3. Sensitivity to TOP2 targeting chemotherapeutics is regulated by Oct1 and FILIP1L. Lu H, et al. PLoS One, 2012. PMID 22900064, Free PMC Article
    4. Filamin A interacting protein 1-like inhibits WNT signaling and MMP expression to suppress cancer cell invasion and metastasis. Kwon M, et al. Int J Cancer, 2014 Jul 1. PMID 24327474, Free PMC Article
    5. Down-regulation of Filamin A interacting protein 1-like Is associated with promoter methylation and an invasive phenotype in breast, colon, lung and pancreatic cancers [corrected]. Kwon M, et al. PLoS One, 2013. PMID 24340050, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Long-chain noncoding RNA LINC01569 upregulates filamin A-interacting protein 1-like to prevent metastasis of triple-negative breast cancer via sponging miR-300.
      Title: Long-chain noncoding RNA LINC01569 upregulates filamin A-interacting protein 1-like to prevent metastasis of triple-negative breast cancer via sponging miR-300.
    2. FILIP1L Loss Is a Driver of Aggressive Mucinous Colorectal Adenocarcinoma and Mediates Cytokinesis Defects through PFDN1.
      Title: FILIP1L Loss Is a Driver of Aggressive Mucinous Colorectal Adenocarcinoma and Mediates Cytokinesis Defects through PFDN1.
    3. FILIP1L-mediated cell apoptosis, epithelial-mesenchymal transition and extracellular matrix synthesis aggravate posterior capsular opacification.
      Title: FILIP1L-mediated cell apoptosis, epithelial-mesenchymal transition and extracellular matrix synthesis aggravate posterior capsular opacification.
    4. FILIP1L inhibits progression in colorectal cancer by inhibiting tumor cell proliferation and angiogenesis.
      Title: Filamin A interacting protein 1-like expression inhibits progression in colorectal cancer.
    5. Studies have shown that FILIP1L expression is related with inhibition of metastases and chemoresistance of ovarian neoplasm, which is associated with downregulation of EMT through beta-catenin degradation. FILIP1L expression correlates with significantly improved overall survival.
      Title: Reduced expression of FILIP1L, a novel WNT pathway inhibitor, is associated with poor survival, progression and chemoresistance in ovarian cancer.
    6. these findings suggest that FILIP1L reduces beta-catenin levels, which may lead to the transcriptional downregulation of WNT target genes such as MMPs, resulting in inhibition of metastasis
      Title: Filamin A interacting protein 1-like inhibits WNT signaling and MMP expression to suppress cancer cell invasion and metastasis.
    7. down-regulation of FILIP1L associated with DNA methylation is related with the invasive phenotype in various cancers.
      Title: Down-regulation of Filamin A interacting protein 1-like Is associated with promoter methylation and an invasive phenotype in breast, colon, lung and pancreatic cancers [corrected].
    8. In addition, eight genes classified as 'second tier' hits in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2, GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and association in this replication sample.
      Title: Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.
    9. these findings suggest that downregulation of FILIP1L associated with DNA methylation is related with the invasive phenotype in ovarian cancer and that modulation of FILIP1L expression has the potential to be a target for ovarian cancer therapy.
      Title: Downregulation of Filamin A interacting protein 1-like is associated with promoter methylation and induces an invasive phenotype in ovarian cancer.
    10. a novel function for FILIP-1L and a pathway for Hsf1 degradation through the ubiquitin-proteasome system.
      Title: Promotion of heat shock factor Hsf1 degradation via adaptor protein filamin A-interacting protein 1-like (FILIP-1L).
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
    EBI GWAS Catalog
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog
    Seven new loci associated with age-related macular degeneration.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein localization to actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    filamin A-interacting protein 1-like
    Names
    130 kDa GPBP-interacting protein
    90 kDa GPBP-interacting protein
    protein down-regulated in ovarian cancer 1

    NCBI Reference Sequences (RefSeq)

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    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_001042459.3 → NP_001035924.1  filamin A-interacting protein 1-like isoform 3

      See identical proteins and their annotated locations for NP_001035924.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has a 3'-terminal exon that extends past a splice site that is used in variant 1. The encoded isoform (3) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC069222, AF514869, BC017987, BM674194
      Consensus CDS
      CCDS43118.1
      UniProtKB/Swiss-Prot
      Q4L180
      Related
      ENSP00000327880.5, ENST00000331335.9
      Conserved Domains (2) summary
      pfam09727
      Location:66 → 248
      CortBP2; Cortactin-binding protein-2
      pfam14662
      Location:309 → 481
      KASH_CCD; Coiled-coil region of CCDC155 or KASH

    2. NM_001282793.2 → NP_001269722.1  filamin A-interacting protein 1-like isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AF329092, AY642382, DB080427, EU531866
      Consensus CDS
      CCDS74969.1
      UniProtKB/Swiss-Prot
      Q4L180
      Related
      ENSP00000417774.1, ENST00000487087.5
      Conserved Domains (4) summary
      pfam00261
      Location:3 → 260
      Tropomyosin; Tropomyosin
      pfam12001
      Location:41 → 110
      DUF3496; Domain of unknown function (DUF3496)
      cl03075
      Location:196 → 247
      GrpE; nucleotide exchange factor GrpE
      cl19219
      Location:123 → 221
      DUF342; Protein of unknown function (DUF342)

    3. NM_001282794.2 → NP_001269723.1  filamin A-interacting protein 1-like isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (5) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AF329092, AY642382, DB080427, EU531865
      Consensus CDS
      CCDS63700.1
      UniProtKB/TrEMBL
      C9JYJ6
      Related
      ENSP00000419642.1, ENST00000471562.1
      Conserved Domains (2) summary
      pfam06160
      Location:16 → 537
      EzrA; Septation ring formation regulator, EzrA
      cl19219
      Location:171 → 241
      DUF342; Protein of unknown function (DUF342)

    4. NM_001370247.1 → NP_001357176.1  filamin A-interacting protein 1-like isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC069222, AK096195, AK225855, BC027860
      Consensus CDS
      CCDS43119.1
      UniProtKB/TrEMBL
      C9JYJ6
      Related
      ENSP00000419874.2, ENST00000495625.2
      Conserved Domains (1) summary
      PRK03918
      Location:18 → 491
      PRK03918; chromosome segregation protein; Provisional

    5. NM_001387850.1 → NP_001374779.1  filamin A-interacting protein 1-like isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) encodes the longest isoform (6).
      Source sequence(s)
      AC024938, AC069222, AC117419, AC129803
      Consensus CDS
      CCDS93331.1
      UniProtKB/TrEMBL
      H7C4M0
      Related
      ENSP00000417617.2, ENST00000477258.2
      Conserved Domains (2) summary
      TIGR02168
      Location:224 → 773
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam09727
      Location:66 → 248
      CortBP2; Cortactin-binding protein-2

    6. NM_001387851.1 → NP_001374780.1  filamin A-interacting protein 1-like isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC024938, AC069222
      UniProtKB/TrEMBL
      C9JYJ6
      Conserved Domains (1) summary
      PRK03918
      Location:18 → 491
      PRK03918; DNA double-strand break repair ATPase Rad50

    7. NM_001387852.1 → NP_001374781.1  filamin A-interacting protein 1-like isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC024938, AC069222, AC117419, AC129803
      Conserved Domains (1) summary
      pfam09727
      Location:66 → 202
      CortBP2; Cortactin-binding protein-2

    8. NM_014890.4 → NP_055705.2  filamin A-interacting protein 1-like isoform 2

      See identical proteins and their annotated locations for NP_055705.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the UTRs and coding region, but maintains reading frame, compared to variant 1. The encoded isoform (2) has a shorter N-terminus and a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC069222, BC027860, BM674194, DB080427
      Consensus CDS
      CCDS43119.1
      UniProtKB/TrEMBL
      C9JYJ6
      Related
      ENSP00000373192.2, ENST00000383694.3
      Conserved Domains (1) summary
      PRK03918
      Location:18 → 491
      PRK03918; chromosome segregation protein; Provisional

    9. NM_182909.4 → NP_878913.2  filamin A-interacting protein 1-like isoform 1

      See identical proteins and their annotated locations for NP_878913.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AF329092
      Consensus CDS
      CCDS43117.1
      UniProtKB/Swiss-Prot
      B2CNV7, B2CNV8, Q13597, Q2YDY5, Q4L180, Q6KFX5, Q6KFX6, Q6KFX7, Q8IUM3, Q8N6Z0
      Related
      ENSP00000346560.3, ENST00000354552.7
      Conserved Domains (2) summary
      pfam09727
      Location:66 → 248
      CortBP2; Cortactin-binding protein-2
      pfam14662
      Location:309 → 481
      KASH_CCD; Coiled-coil region of CCDC155 or KASH

    RNA

    1. NR_170715.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC024938, AC069222

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      99828811..100114501 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512371.3 → XP_011510673.1  filamin A-interacting protein 1-like isoform X2

      UniProtKB/TrEMBL
      C9JYJ6
      Conserved Domains (2) summary
      pfam06160
      Location:68 → 589
      EzrA; Septation ring formation regulator, EzrA
      cl19219
      Location:223 → 293
      DUF342; Protein of unknown function (DUF342)

    2. XM_047447376.1 → XP_047303332.1  filamin A-interacting protein 1-like isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      102533856..102819829 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345103.1 → XP_054201078.1  filamin A-interacting protein 1-like isoform X2

    2. XM_054345102.1 → XP_054201077.1  filamin A-interacting protein 1-like isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4L180.2 GenPept UniProtKB/Swiss-Prot:Q4L180

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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