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

Gene ID: 27145, updated on 13-Apr-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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Location:
6q14.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (75291859..75493800, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (76468681..76670584, complement)
105.20220307 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. 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
  3. 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
  4. RhoD regulates cytoskeletal dynamics via the actin nucleation-promoting factor WASp homologue associated with actin Golgi membranes and microtubules. Gad AK, et al. Mol Biol Cell, 2012 Dec. PMID 23087206, Free PMC Article
  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 (24) 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)

Genotypes

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
  
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_2023_10

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

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