Aliases for FILIP1 Gene
Aliases for FILIP1 Gene
External Ids for FILIP1 Gene
- HGNC: 21015
- Entrez Gene: 27145
- Ensembl: ENSG00000118407
- OMIM: 607307
- UniProtKB: Q7Z7B0
Previous GeneCards Identifiers for FILIP1 Gene
- GC06M075954
- GC06M076000
- GC06M076013
- GC06M076074
- GC06M076005
- GC06M073216
Summaries for FILIP1 Gene
-
This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016]
GeneCards Summary for FILIP1 Gene
FILIP1 (Filamin A Interacting Protein 1) is a Protein Coding gene. Diseases associated with FILIP1 include Ureterocele. Among its related pathways are Integrated Breast Cancer Pathway. An important paralog of this gene is FILIP1L.
UniProtKB/Swiss-Prot for FILIP1 Gene
-
By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone. May be able to induce the degradation of filamin-A.
Additional gene information for FILIP1 Gene
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FILIP1 Gene
Genomics for FILIP1 Gene
GeneHancer (GH) Regulatory Elements for FILIP1 Gene
Promoters and enhancers for FILIP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around FILIP1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the FILIP1 gene promoter:
-
- POU2F1a
- POU2F1
- RFX1
- HNF-1A
- HNF-1
- HNF-3beta
- Ik-1
- GR-alpha
- LyF-1
- GR
Regulatory Element Products
Genomic Locations for FILIP1 Gene
Genomic Locations for FILIP1 Gene
- chr6:75,291,859-75,493,829
- (GRCh38/hg38)
- Size:
- 201,971 bases
- Orientation:
- Minus strand
- chr6:76,001,575-76,203,496
- (GRCh37/hg19)
- Size:
- 201,922 bases
- Orientation:
- Minus strand
Genomic View for FILIP1 Gene
Genes around FILIP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q14.1 by Entrez Gene
- 6q14.1 by HGNC
- 6q14.1 by Ensembl
FILIP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FILIP1 Gene
Proteins for FILIP1 Gene
-
Protein details for FILIP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q7Z7B0-FLIP1_HUMAN
- Recommended name:
- Filamin-A-interacting protein 1
- Protein Accession:
- Q7Z7B0
- B2RMU6
- Q5VUL6
- Q86TC3
- Q8N8B9
- Q96SK6
- Q9NVI8
- Q9ULE5
Protein attributes for FILIP1 Gene
- Size:
- 1213 amino acids
- Molecular mass:
- 138109 Da
- Quaternary structure:
-
- Interacts with FLNA. Interacts with RHOD (in GTP-bound form).
- SequenceCaution:
-
- Sequence=BAA91763.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH71818.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH73614.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for FILIP1 Gene
Post-translational modifications for FILIP1 Gene
Other Protein References for FILIP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FILIP1
-
Abcam antibodies for FILIP1
- Invitrogen Antibodies for FILIP1 (AFLGC-FILIP1)
- Search GeneTex for Antibodies for FILIP1
-
Boster Bio Antibodies for FILIP1
Protein Products
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- Search GeneTex for Proteins for FILIP1
Assay Products
No data available for DME Specific Peptides for FILIP1 Gene
Domains & Families for FILIP1 Gene
Gene Families for FILIP1 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for FILIP1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FILIP1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q7Z7B0- Family:
-
- Belongs to the FILIP1 family.
Function for FILIP1 Gene
Molecular function for FILIP1 Gene
- UniProtKB/Swiss-Prot Function:
- By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone. May be able to induce the degradation of filamin-A.
Phenotypes From GWAS Catalog for FILIP1 Gene
Phenotypes for FILIP1 Gene
Animal Model Products
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-
CRISPR Products
-
OriGene CRISPR knockouts for FILIP1
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- Applied Biological Materials CRISPR for FILIP1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FILIP1
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miRNA for FILIP1 Gene
- miRTarBase miRNAs that target FILIP1
miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for FILIP1
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- genomics-online: cdna clones - Search results for available FILIP1 gene related products
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- Applied Biological Materials Clones for FILIP1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for FILIP1
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FILIP1 Gene
Localization for FILIP1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FILIP1 Gene
- Cytoplasm, cytoskeleton.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| plasma membrane | 4 |
| cytosol | 2 |
- Actin filaments (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005730 | nucleolus | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005886 | plasma membrane | IDA | -- |
| GO:0015629 | actin cytoskeleton | IDA | -- |
Pathways & Interactions for FILIP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Integrated Breast Cancer Pathway | ||
Pathways by source for FILIP1 Gene
1 BioSystems pathway for FILIP1 Gene
Interacting Proteins for FILIP1 Gene
GPS-Prot Interaction Network for FILIP1
No data available for SIGNOR curated interactions for FILIP1 Gene
Transcripts for FILIP1 Gene
mRNA/cDNA for FILIP1 Gene
- (6) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (54) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000393004 7807 bps (uc003phy.2)
- ENST00000237172 4580 bps (uc003pia.4)
- ENST00000498523 3764 bps (uc003pib.2)
- ENST00000370020 4051 bps (uc003phz.4)
Unigene Clusters for FILIP1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for FILIP1
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- Applied Biological Materials CRISPR for FILIP1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FILIP1
- GenScript: Design CRISPR guide RNA sequences for FILIP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FILIP1
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Clone Products
- Sino Biological Human cDNA Clone for FILIP1
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- genomics-online: cdna clones - Search results for available FILIP1 gene related products
- orf clones - Search results for available FILIP1 gene related products
- Applied Biological Materials Clones for FILIP1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for FILIP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
- Endothelium (Cardiovascular System)
- Heart (Cardiovascular System)
mRNA differential expression in normal tissues according to GTEx for FILIP1 Gene
This gene is overexpressed in Heart - Left Ventricle (x6.9), Muscle - Skeletal (x6.6), and Heart - Atrial Appendage (x4.7).
This gene is overexpressed in Spinal cord (12.2), Urinary Bladder (10.1), Heart (9.0), Colon (8.9), Adrenal (7.1), and Fetal heart (7.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FILIP1 Gene
NURSA nuclear receptor signaling pathways regulating expression of FILIP1 Gene:
FILIP1SOURCE GeneReport for Unigene cluster for FILIP1 Gene:
Hs.696158mRNA Expression by UniProt/SwissProt for FILIP1 Gene:
Q7Z7B0-FLIP1_HUMAN
Tissue specificity:
Moderately expressed in adult heart and brain. Weakly expressed in lung, skeletal muscle, ovary, testis, kidney, and fetal brain, and hardly detectable in liver, pancreas, spleen, and fetal liver. Within brain, moderate expression is found in amygdala and caudate nucleus.
Evidence on tissue expression from TISSUES for FILIP1 Gene
- Muscle(4.5)
- Nervous system(4.4)
- Intestine(4.2)
- Heart(2.4)
Primer Products
-
OriGene qPCR primer pairs for FILIP1
- genomics-online: primer clones - Search results for available FILIP1 gene related products
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FILIP1 Gene
Orthologs for FILIP1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FILIP1 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | FILIP1 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | FILIP1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | FILIP1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Filip1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Filip1 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FILIP1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FILIP1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | FILIP1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | filip1 33 |
|
||
| Str.7271 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.6145 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | filip1b 34 33 |
|
OneToMany | |
| filip1a 34 |
|
OneToMany | |||
| wufb92f04 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9783 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG10915 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | C49H3.6 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for FILIP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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 FILIP1 Gene
- ENSEMBL:
- Gene Tree for FILIP1 (if available)
- TreeFam:
- Gene Tree for FILIP1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FILIP1: view image
Paralogs for FILIP1 Gene
Variants for FILIP1 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs35464830 | benign, Abnormality of neuronal migration | 75,314,349(-) | T/C | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs371050880 | benign, Abnormality of neuronal migration | 75,314,909(-) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs374887916 | benign, Abnormality of neuronal migration | 75,312,516(-) | C/G/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs1000023340 | -- | 75,350,599(-) | T/A | genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant | |
| rs1000028288 | -- | 75,402,593(-) | A/C | genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv10785n54 | CNV | loss | 21841781 |
| dgv10786n54 | CNV | loss | 21841781 |
| dgv1802e212 | CNV | loss | 25503493 |
| esv1005015 | CNV | deletion | 20482838 |
| esv1350235 | CNV | deletion | 17803354 |
| esv21616 | CNV | loss | 19812545 |
| esv2732314 | CNV | deletion | 23290073 |
| esv3086938 | CNV | deletion | 24192839 |
| esv3385538 | CNV | insertion | 20981092 |
| esv3540003 | CNV | deletion | 23714750 |
| esv3571210 | CNV | loss | 25503493 |
| esv3609574 | CNV | loss | 21293372 |
| esv3890880 | CNV | loss | 25118596 |
| nsv1114843 | CNV | deletion | 24896259 |
| nsv348407 | CNV | deletion | 16902084 |
| nsv603763 | CNV | loss | 21841781 |
| nsv603764 | CNV | loss | 21841781 |
| nsv603770 | CNV | loss | 21841781 |
| nsv830698 | CNV | gain | 17160897 |
| nsv981158 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
28.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.49;
64.40% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FILIP1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FILIP1 Gene
Disorders for FILIP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ureterocele |
|
|
Search FILIP1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for FILIP1
No data available for UniProtKB/Swiss-Prot and Genatlas for FILIP1 Gene
Publications for FILIP1 Gene
- Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
- RhoD regulates cytoskeletal dynamics via the actin nucleation-promoting factor WASp homologue associated with actin Golgi membranes and microtubules. (PMID: 23087206) Gad AK … Aspenström P (Molecular biology of the cell 2012) 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
- Differential effects of Tat proteins derived from HIV-1 subtypes B and recombinant CRF02_AG on human brain microvascular endothelial cells: implications for blood-brain barrier dysfunction. (PMID: 24667918) Woollard SM … Kanmogne GD (Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 2014) 3 58
Products for FILIP1 Gene
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- antibodies-online: Search results for available FILIP1 related products ranked by validation data
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Sources for FILIP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
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