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

Gene ID: 11259, updated on 3-Apr-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, Apr 2022]
Expression
Ubiquitous expression in gall bladder (RPKM 44.5), urinary bladder (RPKM 29.8) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
3q12.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (99828811..100114501, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (102533856..102819829, complement)
105.20220307 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 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 uncharacterized LOC124909400 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. FILIP1L-mediated cell apoptosis, epithelial-mesenchymal transition and extracellular matrix synthesis aggravate posterior capsular opacification. Jing R, et al. Life Sci, 2021 Dec 1. PMID 34666037
  2. Filamin A interacting protein 1-like expression inhibits progression in colorectal cancer. Park YL, et al. Oncotarget, 2016 Nov 1. PMID 27750216, Free PMC Article
  3. 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
  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. 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

See all (36) 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)

Genotypes

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 molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
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_2023_10

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

Gene LinkOut

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