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

Gene ID: 319262, updated on 5-Mar-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 multi-organism 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, Apr 2022]
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
  • 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 cytoplasm IEA
Inferred from Electronic Annotation
more info
  
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
  
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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