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Aliases for FILIP1L Gene

Aliases for FILIP1L Gene

  • Filamin A Interacting Protein 1 Like 2 3 5
  • Protein Down-Regulated In Ovarian Cancer 1 3 4
  • 130 KDa GPBP-Interacting Protein 3 4
  • 90 KDa GPBP-Interacting Protein 3 4
  • Doc-1 3 4
  • GIP90 3 4
  • DOC1 3 4
  • Filamin A-Interacting Protein 1-Like 3
  • GPBP-Interacting Protein Of 130 KDa 2
  • Downregulated In Ovarian Cancer 1 2
  • COL4A3BPIP 4
  • GIP130 3

External Ids for FILIP1L Gene

Previous GeneCards Identifiers for FILIP1L Gene

  • GC03M101035
  • GC03M099548
  • GC03M096920

Summaries for FILIP1L Gene

GeneCards Summary for FILIP1L Gene

FILIP1L (Filamin A Interacting Protein 1 Like) is a Protein Coding gene. Diseases associated with FILIP1L include Ovarian Cancer and Ovarian Cancer 1. An important paralog of this gene is FILIP1.

UniProtKB/Swiss-Prot for FILIP1L Gene

  • Acts as a regulator of the antiangiogenic activity on endothelial cells. When overexpressed in endothelial cells, leads to inhibition of cell proliferation and migration and an increase in apoptosis. Inhibits melanoma growth When expressed in tumor-associated vasculature.

Additional gene information for FILIP1L Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FILIP1L Gene

Genomics for FILIP1L Gene

GeneHancer (GH) Regulatory Elements for FILIP1L Gene

Promoters and enhancers for FILIP1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I099869 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 570 +240.4 240360 8.8 PKNOX1 SMAD1 ARID4B SIN3A IRF4 FOS PAF1 JUNB MXD4 ZNF592 FILIP1L TBC1D23 TMEM45A GC03M099852 PIR40829 CMSS1
GH03I100115 Promoter/Enhancer 1.2 EPDnew dbSUPER 550.8 -0.4 -401 0.1 SOX13 FOXA2 SAP130 CEBPG RAD21 RARA TEAD3 NR2F6 HOMEZ GATAD2A FILIP1L CMSS1 GC03M100139
GH03I099850 Promoter/Enhancer 0.8 EPDnew dbSUPER 550.1 +263.5 263509 0.1 POLR2A PIR39775 PIR40829 FILIP1L TBC1D23 CMSS1 GC03M099852
GH03I100114 Promoter/Enhancer 0.7 EPDnew dbSUPER 550.8 0.0 -8 0.1 FILIP1L GC03M100139 CMSS1
GH03I100112 Enhancer 0.3 dbSUPER 550.8 +1.2 1231 0.6 GATA3 FILIP1L GC03M100108 CMSS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FILIP1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FILIP1L gene promoter:

Genomic Locations for FILIP1L Gene

Genomic Locations for FILIP1L Gene
chr3:99,830,141-100,114,513
(GRCh38/hg38)
Size:
284,373 bases
Orientation:
Minus strand
chr3:99,548,985-99,833,357
(GRCh37/hg19)

Genomic View for FILIP1L Gene

Genes around FILIP1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FILIP1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FILIP1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FILIP1L Gene

Proteins for FILIP1L Gene

  • Protein details for FILIP1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4L180-FIL1L_HUMAN
    Recommended name:
    Filamin A-interacting protein 1-like
    Protein Accession:
    Q4L180
    Secondary Accessions:
    • B2CNV7
    • B2CNV8
    • Q13597
    • Q2YDY5
    • Q6KFX5
    • Q6KFX6
    • Q6KFX7
    • Q8IUM3
    • Q8N6Z0

    Protein attributes for FILIP1L Gene

    Size:
    1135 amino acids
    Molecular mass:
    130382 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA98972.1; Type=Frameshift; Positions=1000; Evidence={ECO:0000305}; Sequence=AAN16206.1; Type=Frameshift; Positions=747; Evidence={ECO:0000305}; Sequence=ACB37436.1; Type=Frameshift; Positions=750; Evidence={ECO:0000305};

    Alternative splice isoforms for FILIP1L Gene

neXtProt entry for FILIP1L Gene

Post-translational modifications for FILIP1L Gene

No Post-translational modifications

No data available for DME Specific Peptides for FILIP1L Gene

Domains & Families for FILIP1L Gene

Gene Families for FILIP1L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FILIP1L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FILIP1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q4L180

UniProtKB/Swiss-Prot:

FIL1L_HUMAN :
  • Belongs to the FILIP1 family.
Family:
  • Belongs to the FILIP1 family.
genes like me logo Genes that share domains with FILIP1L: view

Function for FILIP1L Gene

Molecular function for FILIP1L Gene

UniProtKB/Swiss-Prot Function:
Acts as a regulator of the antiangiogenic activity on endothelial cells. When overexpressed in endothelial cells, leads to inhibition of cell proliferation and migration and an increase in apoptosis. Inhibits melanoma growth When expressed in tumor-associated vasculature.
UniProtKB/Swiss-Prot Induction:
Up-regulated in endothelial cells with the angiogenesis inhibitors endostatin and fumagillin. By endothelial monocyte-activating polypeptide II in endothelial cells.

Phenotypes From GWAS Catalog for FILIP1L Gene

Gene Ontology (GO) - Molecular Function for FILIP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with FILIP1L: view

Phenotypes for FILIP1L Gene

GenomeRNAi human phenotypes for FILIP1L:
genes like me logo Genes that share phenotypes with FILIP1L: view

Animal Model Products

CRISPR Products

miRNA for FILIP1L Gene

miRTarBase miRNAs that target FILIP1L

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FILIP1L Gene

Localization for FILIP1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for FILIP1L Gene

Cytoplasm. Membrane. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FILIP1L gene
Compartment Confidence
nucleus 5
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FILIP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with FILIP1L: view

Pathways & Interactions for FILIP1L Gene

SuperPathways for FILIP1L Gene

No Data Available

Interacting Proteins for FILIP1L Gene

Gene Ontology (GO) - Biological Process for FILIP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with FILIP1L: view

No data available for Pathways by source and SIGNOR curated interactions for FILIP1L Gene

Drugs & Compounds for FILIP1L Gene

No Compound Related Data Available

Transcripts for FILIP1L Gene

Unigene Clusters for FILIP1L Gene

Filamin A interacting protein 1-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FILIP1L Gene

No ASD Table

Relevant External Links for FILIP1L Gene

GeneLoc Exon Structure for
FILIP1L
ECgene alternative splicing isoforms for
FILIP1L

Expression for FILIP1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FILIP1L Gene

mRNA differential expression in normal tissues according to GTEx for FILIP1L Gene

This gene is overexpressed in Artery - Aorta (x7.8) and Artery - Tibial (x5.3).

Protein differential expression in normal tissues from HIPED for FILIP1L Gene

This gene is overexpressed in Uterus (11.9), Plasma (10.7), Gallbladder (10.4), and Colon (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FILIP1L Gene



NURSA nuclear receptor signaling pathways regulating expression of FILIP1L Gene:

FILIP1L

SOURCE GeneReport for Unigene cluster for FILIP1L Gene:

Hs.104672

mRNA Expression by UniProt/SwissProt for FILIP1L Gene:

Q4L180-FIL1L_HUMAN
Tissue specificity: Expressed in endothelial cells, colon and colon cancers. In the colon, expressed in the vasculature and muscularis mucosa. In colon cancer, strongly expressed in tumor stroma and the vasculature (at protein level). Expressed in ovarian epithelial cells. Down-regulated in ovarian cancer.

Evidence on tissue expression from TISSUES for FILIP1L Gene

  • Muscle(4.4)
  • Liver(4.2)
  • Pancreas(4.2)
  • Heart(2.4)
  • Lung(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with FILIP1L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FILIP1L Gene

Orthologs for FILIP1L Gene

This gene was present in the common ancestor of animals.

Orthologs for FILIP1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FILIP1L 33 34
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia FILIP1L 33 34
  • 92.02 (n)
cow
(Bos Taurus)
Mammalia FILIP1L 33 34
  • 91.92 (n)
mouse
(Mus musculus)
Mammalia Filip1l 33 16 34
  • 88.44 (n)
rat
(Rattus norvegicus)
Mammalia Filip1l 33
  • 87.53 (n)
oppossum
(Monodelphis domestica)
Mammalia FILIP1L 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FILIP1L 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves FILIP1L 33 34
  • 73.27 (n)
lizard
(Anolis carolinensis)
Reptilia FILIP1L 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia filip1l 33
  • 69.13 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:158292 33
  • 61.73 (n)
FILIP1L (1 of 2) 34
  • 60 (a)
OneToMany
FILIP1L (2 of 2) 34
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10915 34
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C49H3.6 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToMany
Species where no ortholog for FILIP1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FILIP1L Gene

ENSEMBL:
Gene Tree for FILIP1L (if available)
TreeFam:
Gene Tree for FILIP1L (if available)

Paralogs for FILIP1L Gene

Paralogs for FILIP1L Gene

(3) SIMAP similar genes for FILIP1L Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with FILIP1L: view

Variants for FILIP1L Gene

Sequence variations from dbSNP and Humsavar for FILIP1L Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000004816 -- 99,904,708(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000048422 -- 100,027,567(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000049619 -- 99,833,364(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000053667 -- 99,889,444(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000054268 -- 99,890,725(-) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FILIP1L Gene

Variant ID Type Subtype PubMed ID
esv2725690 CNV deletion 23290073
esv2725689 CNV deletion 23290073
esv2725688 CNV deletion 23290073
esv2725687 CNV deletion 23290073
esv2725686 CNV deletion 23290073
esv2671411 CNV deletion 23128226
esv2670786 CNV deletion 23128226
esv2668597 CNV deletion 23128226
esv2663491 CNV deletion 23128226
esv2661948 CNV deletion 23128226
esv26006 CNV loss 19812545
esv2507771 CNV insertion 19546169
esv2332259 CNV deletion 18987734
esv1440096 CNV insertion 17803354
esv1177720 CNV insertion 17803354
dgv916e214 CNV loss 21293372
dgv8475n54 CNV gain+loss 21841781
dgv818n67 CNV loss 20364138
dgv4829n100 CNV loss 25217958
nsv999332 CNV loss 25217958
nsv954357 CNV deletion 24416366
nsv954339 CNV deletion 24416366
nsv822197 CNV loss 20364138
nsv822194 CNV loss 20364138
nsv591148 CNV loss 21841781
nsv591147 CNV loss 21841781
nsv475174 CNV novel sequence insertion 20440878
nsv3919 CNV insertion 18451855
nsv3918 CNV insertion 18451855
nsv1117011 CNV deletion 24896259
nsv1109534 CNV deletion 24896259
esv998785 CNV loss 20482838
esv988265 CNV deletion 20482838
esv987776 CNV deletion 20482838
esv4340 CNV loss 18987735
esv3597164 CNV loss 21293372
esv3597163 CNV loss 21293372
esv3597161 CNV loss 21293372
esv3597160 CNV loss 21293372
esv3562279 CNV deletion 23714750
esv3562278 CNV deletion 23714750
esv3433874 CNV insertion 20981092
esv3325883 CNV duplication 20981092
esv2945 CNV loss 18987735
esv2835347 CNV deletion 24192839
esv2835236 CNV deletion 24192839

Variation tolerance for FILIP1L Gene

Residual Variation Intolerance Score: 33.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.40; 85.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FILIP1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FILIP1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FILIP1L Gene

Disorders for FILIP1L Gene

MalaCards: The human disease database

(2) MalaCards diseases for FILIP1L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
ovarian cancer
  • ovarian cancer, somatic
ovarian cancer 1
  • ovarian cancer, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FILIP1L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FILIP1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FILIP1L Gene

Publications for FILIP1L Gene

  1. Endothelial monocyte activating polypeptide-II induced gene expression changes in endothelial cells. (PMID: 15935955) Tandle AT … Libutti SK (Cytokine 2005) 2 3 4 22 58
  2. Molecular cloning of differentially expressed genes in human epithelial ovarian cancer. (PMID: 8314147) Mok SC … Berkowitz RS (Gynecologic oncology 1994) 2 3 4 58
  3. Goodpasture antigen-binding protein (GPBP) directs myofibril formation: identification of intracellular downstream effector 130-kDa GPBP-interacting protein (GIP130). (PMID: 21832087) Revert-Ros F … Saus J (The Journal of biological chemistry 2011) 2 3 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival. (PMID: 19270026) Quaye L … Gayther SA (Human molecular genetics 2009) 3 44 58

Products for FILIP1L Gene

Sources for FILIP1L Gene

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