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

Summary

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

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_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of FCHSD1 leads to amelioration of chronic obstructive pulmonary disease.
Title: Loss of FCHSD1 leads to amelioration of chronic obstructive pulmonary disease.
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.

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Variation

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Alleles

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

Targeted (1) 1 citation

General gene information

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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
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within import into nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inflammatory response	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
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
acts_upstream_of_or_within response to hydrogen peroxide	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to peptide	IDA Inferred from Direct Assay more info	PubMed

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 cytosol	IPI Inferred from Physical Interaction more info	PubMed
is_active_in neuromuscular junction	IBA Inferred from Biological aspect of Ancestor more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
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)

NM_001418706.1 → NP_001405635.1 F-BAR and double SH3 domains protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC129315
NM_001418707.1 → NP_001405636.1 F-BAR and double SH3 domains protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC129315
NM_001418708.1 → NP_001405637.1 F-BAR and double SH3 domains protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC129315
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

NC_000084.7 Reference GRCm39 C57BL/6J

Range

38090484..38102828 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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