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    Fchsd1 FCH and double SH3 domains 1 [ Mus musculus (house mouse) ]

    Gene ID: 319262, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Fchsd1provided by MGI
    Official Full Name
    FCH and double SH3 domains 1provided by MGI
    Primary source
    MGI:MGI:2441771
    See related
    Ensembl:ENSMUSG00000038524 AllianceGenome:MGI:2441771
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    NWK2; A030002D08Rik
    Summary
    Predicted to enable lipid binding activity. Involved in membrane organization and positive regulation of actin filament polymerization. Colocalizes with cuticular plate. Orthologous to human FCHSD1 (FCH and double SH3 domains 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in CNS E18 (RPKM 14.4), cerebellum adult (RPKM 13.9) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Fchsd1 in Genome Data Viewer
    Location:
    18 B3; 18 19.84 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (38090484..38102828, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (37957431..37969814, complement)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene diaphanous related formin 1 Neighboring gene microRNA 6979 Neighboring gene STARR-seq mESC enhancer starr_44330 Neighboring gene STARR-seq mESC enhancer starr_44331 Neighboring gene STARR-seq mESC enhancer starr_44332 Neighboring gene STARR-positive B cell enhancer ABC_E8711 Neighboring gene STARR-seq mESC enhancer starr_44334 Neighboring gene STARR-positive B cell enhancer ABC_E1953 Neighboring gene histone deacetylase 3 Neighboring gene RELT-like 2 Neighboring gene microRNA 6981 Neighboring gene ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 Neighboring gene microRNA 6980

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Loss of FCHSD1 leads to amelioration of chronic obstructive pulmonary disease. Kawasaki T, et al. Proc Natl Acad Sci U S A, 2021 Jun 29. PMID 34168078, Free PMC Article
    2. Identification and characterization of human FCHSD1 and FCHSD2 genes in silico. Katoh M, et al. Int J Mol Med, 2004 May. PMID 15067381
    3. Formation of membrane ridges and scallops by the F-BAR protein Nervous Wreck. Becalska AN, et al. Mol Biol Cell, 2013 Aug. PMID 23761074, Free PMC Article
    4. FCHSD1 and FCHSD2 are expressed in hair cell stereocilia and cuticular plate and regulate actin polymerization in vitro. Cao H, et al. PLoS One, 2013. PMID 23437151, Free PMC Article
    5. A mouse knockout library for secreted and transmembrane proteins. Tang T, et al. Nat Biotechnol, 2010 Jul. PMID 20562862

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of FCHSD1 leads to amelioration of chronic obstructive pulmonary disease.
      Title: Loss of FCHSD1 leads to amelioration of chronic obstructive pulmonary disease.
    2. Our results suggest that FCHSD1 and FCHSD2 could modulate F-actin assembly or maintenance in hair cell stereocilia and cuticular plate.
      Title: FCHSD1 and FCHSD2 are expressed in hair cell stereocilia and cuticular plate and regulate actin polymerization in vitro.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuromuscular synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with cuticular plate IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in neuromuscular junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    F-BAR and double SH3 domains protein 1
    Names
    FCH and double SH3 domains protein 1
    protein nervous wreck 2

    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_001418706.1 → NP_001405635.1  F-BAR and double SH3 domains protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC129315

    2. NM_001418707.1 → NP_001405636.1  F-BAR and double SH3 domains protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC129315

    3. NM_001418708.1 → NP_001405637.1  F-BAR and double SH3 domains protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC129315

    4. NM_175684.5 → NP_783615.2  F-BAR and double SH3 domains protein 1 isoform 1

      See identical proteins and their annotated locations for NP_783615.2

      Status: VALIDATED

      Source sequence(s)
      AC129315
      Consensus CDS
      CCDS37786.1
      UniProtKB/Swiss-Prot
      Q6PFY1, Q8BV86
      Related
      ENSMUSP00000047878.8, ENSMUST00000043437.14
      Conserved Domains (3) summary
      cd11761
      Location:468 → 524
      SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
      cl12013
      Location:16 → 273
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl17036
      Location:548 → 605
      SH3; Src Homology 3 domain superfamily

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      38090484..38102828 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030250505.1 → XP_030106365.1  F-BAR and double SH3 domains protein 1 isoform X2

      Conserved Domains (3) summary
      cd11761
      Location:209 → 265
      SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
      pfam15709
      Location:65 → 179
      DUF4670; Domain of unknown function (DUF4670)
      cl17036
      Location:289 → 346
      SH3; Src Homology 3 domain superfamily
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PFY1.1 GenPept UniProtKB/Swiss-Prot:Q6PFY1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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