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    FILIP1 filamin A interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 27145, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FILIP1provided by HGNC
    Official Full Name
    filamin A interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:21015
    See related
    Ensembl:ENSG00000118407 MIM:607307; AllianceGenome:HGNC:21015
    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
    NMDF; FILIP
    Summary
    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]
    Expression
    Biased expression in heart (RPKM 16.2), esophagus (RPKM 4.3) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FILIP1 in Genome Data Viewer
    Location:
    6q14.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (75291859..75493800, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (76468681..76670584, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (76001575..76203516, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24758 Neighboring gene cytochrome c oxidase subunit 7A2 Neighboring gene uncharacterized LOC124901344 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:75981645-75982844 Neighboring gene transmembrane protein 30A Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:75994172-75994744 Neighboring gene TMEM30A divergent transcript Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:76043771-76044425 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:76044426-76045080 Neighboring gene high mobility group box 1 pseudogene 39 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:76071935-76073134 Neighboring gene uncharacterized LOC101928540 Neighboring gene small nucleolar RNA U3 Neighboring gene microRNA 4463 Neighboring gene UBE2V1 pseudogene 15 Neighboring gene RNA, U1 small nuclear 34, pseudogene Neighboring gene uncharacterized LOC124901343 Neighboring gene ribosomal protein L26 pseudogene 20 Neighboring gene H3 histone pseudogene 27

    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. Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly. Schnabel F, et al. Hum Genet, 2023 Apr. PMID 36943452, Free PMC Article
    2. Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. Roos A, et al. Brain, 2023 Oct 3. PMID 37163662, Free PMC Article
    3. Clinically relevant aberrant Filip1l DNA methylation detected in a murine model of cutaneous squamous cell carcinoma. Roth K, et al. EBioMedicine, 2021 May. PMID 34000624, Free PMC Article
    4. Filamin A-interacting protein (FILIP) regulates cortical cell migration out of the ventricular zone. Nagano T, et al. Nat Cell Biol, 2002 Jul. PMID 12055638
    5. Promotion of heat shock factor Hsf1 degradation via adaptor protein filamin A-interacting protein 1-like (FILIP-1L). Hu Y, et al. J Biol Chem, 2011 Sep 9. PMID 21784850, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
      Title: Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
    2. Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
      Title: Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
    3. Clinically relevant aberrant Filip1l DNA methylation detected in a murine model of cutaneous squamous cell carcinoma.
      Title: Clinically relevant aberrant Filip1l DNA methylation detected in a murine model of cutaneous squamous cell carcinoma.
    4. Data show that RhoD binds the actin nucleation-promoting factor WHAMM (WASp homologue associated with actin Golgi membranes and microtubules), as well as the related filamin A-binding protein FILIP1.
      Title: RhoD regulates cytoskeletal dynamics via the actin nucleation-promoting factor WASp homologue associated with actin Golgi membranes and microtubules.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Neuromuscular disorder, congenital, with dysmorphic facies
    MedGen: CN377270 OMIM: 620775 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of filamin A interacting protein 1 (FILIP1) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1275

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in modification of postsynaptic structure IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    filamin-A-interacting protein 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.

    Genomic

    1. NG_051931.1 RefSeqGene

      Range
      5115..190825
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001289987.3 → NP_001276916.1  filamin-A-interacting protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC136444, BX647178, DB126435
      UniProtKB/TrEMBL
      A8K2G7
      Conserved Domains (4) summary
      PRK03918
      Location:208 → 741
      PRK03918; chromosome segregation protein; Provisional
      pfam06156
      Location:389 → 461
      DUF972; Protein of unknown function (DUF972)
      pfam09727
      Location:77 → 258
      CortBP2; Cortactin-binding protein-2
      cl23720
      Location:428 → 532
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    2. NM_001300866.3 → NP_001287795.1  filamin-A-interacting protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001287795.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences compared to variant 1. The encoded protein (isoform 3) has a shorter N-terminus and a shorter, distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL080250, AL832009, BC042026, BC136443, DB126435, KF458209
      Consensus CDS
      CCDS75480.1
      UniProtKB/TrEMBL
      A8K2G7
      Related
      ENSP00000376728.1, ENST00000393004.6
      Conserved Domains (4) summary
      PRK03918
      Location:205 → 738
      PRK03918; chromosome segregation protein; Provisional
      pfam06156
      Location:386 → 458
      DUF972; Protein of unknown function (DUF972)
      pfam09727
      Location:74 → 255
      CortBP2; Cortactin-binding protein-2
      cl23720
      Location:425 → 529
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    3. NM_015687.5 → NP_056502.1  filamin-A-interacting protein 1 isoform 2

      See identical proteins and their annotated locations for NP_056502.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a 5' exon, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded protein (isoform 2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      BC136443, BX647178, DB126435
      Consensus CDS
      CCDS4984.1
      UniProtKB/Swiss-Prot
      B2RMU6, Q5VUL6, Q7Z7B0, Q86TC3, Q8N8B9, Q96SK6, Q9NVI8, Q9ULE5
      UniProtKB/TrEMBL
      A8K2G7
      Related
      ENSP00000237172.7, ENST00000237172.12
      Conserved Domains (4) summary
      PRK03918
      Location:205 → 738
      PRK03918; chromosome segregation protein; Provisional
      pfam06156
      Location:386 → 458
      DUF972; Protein of unknown function (DUF972)
      pfam09727
      Location:74 → 255
      CortBP2; Cortactin-binding protein-2
      cl23720
      Location:425 → 529
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    RNA

    1. NR_110608.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks multiple exons and contains an alternate 3' terminal exon, compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
      Source sequence(s)
      AL445465, BC110829, DB126435

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      75291859..75493800 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248715.6 → XP_005248772.1  filamin-A-interacting protein 1 isoform X2

      UniProtKB/TrEMBL
      A8K2G7
      Conserved Domains (4) summary
      PRK03918
      Location:205 → 738
      PRK03918; chromosome segregation protein; Provisional
      pfam06156
      Location:386 → 458
      DUF972; Protein of unknown function (DUF972)
      pfam09727
      Location:74 → 255
      CortBP2; Cortactin-binding protein-2
      cl23720
      Location:425 → 529
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    2. XM_005248713.5 → XP_005248770.1  filamin-A-interacting protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005248770.1

      UniProtKB/Swiss-Prot
      B2RMU6, Q5VUL6, Q7Z7B0, Q86TC3, Q8N8B9, Q96SK6, Q9NVI8, Q9ULE5
      UniProtKB/TrEMBL
      A8K2G7
      Conserved Domains (4) summary
      PRK03918
      Location:205 → 738
      PRK03918; chromosome segregation protein; Provisional
      pfam06156
      Location:386 → 458
      DUF972; Protein of unknown function (DUF972)
      pfam09727
      Location:74 → 255
      CortBP2; Cortactin-binding protein-2
      cl23720
      Location:425 → 529
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    3. XM_047418648.1 → XP_047274604.1  filamin-A-interacting protein 1 isoform X4

    4. XM_047418647.1 → XP_047274603.1  filamin-A-interacting protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B2RMU6, Q5VUL6, Q7Z7B0, Q86TC3, Q8N8B9, Q96SK6, Q9NVI8, Q9ULE5

    5. XM_011535756.3 → XP_011534058.1  filamin-A-interacting protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A075B6G6
      Related
      ENST00000498523.1
      Conserved Domains (3) summary
      pfam05010
      Location:102 → 328
      TACC; Transforming acidic coiled-coil-containing protein (TACC)
      pfam06156
      Location:138 → 210
      DUF972; Protein of unknown function (DUF972)
      cl23720
      Location:177 → 281
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      76468681..76670584 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355172.1 → XP_054211147.1  filamin-A-interacting protein 1 isoform X2

    2. XM_054355171.1 → XP_054211146.1  filamin-A-interacting protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B2RMU6, Q5VUL6, Q7Z7B0, Q86TC3, Q8N8B9, Q96SK6, Q9NVI8, Q9ULE5

    3. XM_054355174.1 → XP_054211149.1  filamin-A-interacting protein 1 isoform X4

    4. XM_054355170.1 → XP_054211145.1  filamin-A-interacting protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B2RMU6, Q5VUL6, Q7Z7B0, Q86TC3, Q8N8B9, Q96SK6, Q9NVI8, Q9ULE5

    5. XM_054355173.1 → XP_054211148.1  filamin-A-interacting protein 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z7B0.1 GenPept UniProtKB/Swiss-Prot:Q7Z7B0

    Gene LinkOut

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