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    FCHSD1 FCH and double SH3 domains 1 [ Homo sapiens (human) ]

    Gene ID: 89848, updated on 4-Jan-2025

    Summary

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    Official Symbol
    FCHSD1provided by HGNC
    Official Full Name
    FCH and double SH3 domains 1provided by HGNC
    Primary source
    HGNC:HGNC:25463
    See related
    Ensembl:ENSG00000197948 MIM:617555; AllianceGenome:HGNC:25463
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NWK2
    Summary
    Predicted to enable lipid binding activity. Predicted to be involved in neuromuscular synaptic transmission and positive regulation of actin filament polymerization. Predicted to act upstream of or within several processes, including import into nucleus; inflammatory response; and response to hydrogen peroxide. Predicted to be located in cuticular plate. Predicted to be part of protein-containing complex. Predicted to be active in cytosol; neuromuscular junction; and recycling endosome. [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Ubiquitous expression in skin (RPKM 9.3), lymph node (RPKM 8.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FCHSD1 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (141639302..141651418, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (142165308..142177433, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (141018869..141030985, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene diaphanous related formin 1 Neighboring gene RPS27A pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23308 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:140998145-140998341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23309 Neighboring gene Sharpr-MPRA regulatory region 64 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23311 Neighboring gene histone deacetylase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:141029007-141029585 Neighboring gene RELT like 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:141037429-141038628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16459 Neighboring gene ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141053759-141054426 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141054427-141055095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:141071853-141072386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:141072387-141072920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:141080718-141081218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23312 Neighboring gene uncharacterized LOC124901092 Neighboring gene uncharacterized LOC124901093

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Identification and characterization of human FCHSD1 and FCHSD2 genes in silico. Katoh M, et al. Int J Mol Med, 2004 May. PMID 15067381
    2. Nervous wreck, an SH3 adaptor protein that interacts with Wsp, regulates synaptic growth in Drosophila. Coyle IP, et al. Neuron, 2004 Feb 19. PMID 14980202
    3. Oligomerization but Not Membrane Bending Underlies the Function of Certain F-BAR Proteins in Cell Motility and Cytokinesis. McDonald NA, et al. Dev Cell, 2015 Dec 21. PMID 26702831, Free PMC Article
    4. Identification of interaction partners for individual SH3 domains of Fas ligand associated members of the PCH protein family in T lymphocytes. Linkermann A, et al. Biochim Biophys Acta, 2009 Feb. PMID 19041431
    5. Characterization of long cDNA clones from human adult spleen. Hattori A, et al. DNA Res, 2000 Dec 31. PMID 11214971

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00007

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in membrane organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuromuscular synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of actin filament polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 ISS
    Inferred from Sequence or Structural Similarity
    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
    nervous wreck homolog 2
    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_033449.3 → NP_258260.1  F-BAR and double SH3 domains protein 1

      Status: VALIDATED

      Source sequence(s)
      AC008781, AY217346
      Consensus CDS
      CCDS47295.1
      UniProtKB/Swiss-Prot
      Q6UX75, Q86WN1, Q86Y77, Q9NXX8
      UniProtKB/TrEMBL
      E5RGT6
      Related
      ENSP00000399259.2, ENST00000435817.7
      Conserved Domains (3) summary
      cd07678
      Location:16 → 275
      F-BAR_FCHSD1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH and double SH3 domains 1 (FCHSD1)
      cd11761
      Location:470 → 526
      SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
      cd11895
      Location:550 → 607
      SH3_FCHSD1_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 1

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      141639302..141651418 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417860.1 → XP_047273816.1  F-BAR and double SH3 domains protein 1 isoform X3

      UniProtKB/TrEMBL
      E5RGT6

    2. XM_005268524.6 → XP_005268581.1  F-BAR and double SH3 domains protein 1 isoform X1

      UniProtKB/TrEMBL
      E5RGT6
      Related
      ENSP00000428677.1, ENST00000522783.5
      Conserved Domains (3) summary
      cd11761
      Location:468 → 524
      SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
      cd11895
      Location:548 → 605
      SH3_FCHSD1_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 1
      cl12013
      Location:16 → 273
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    3. XM_006714803.5 → XP_006714866.1  F-BAR and double SH3 domains protein 1 isoform X2

      UniProtKB/TrEMBL
      E5RGT6
      Conserved Domains (3) summary
      cd11761
      Location:427 → 483
      SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
      cd11895
      Location:507 → 564
      SH3_FCHSD1_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 1
      cl12013
      Location:16 → 232
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    4. XM_047417861.1 → XP_047273817.1  F-BAR and double SH3 domains protein 1 isoform X4

      UniProtKB/TrEMBL
      E5RGT6

    5. XM_011537700.4 → XP_011536002.1  F-BAR and double SH3 domains protein 1 isoform X5

      Related
      ENSP00000427796.1, ENST00000522126.5
      Conserved Domains (1) summary
      cl12013
      Location:16 → 275
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    6. XM_011537701.4 → XP_011536003.1  F-BAR and double SH3 domains protein 1 isoform X6

      Conserved Domains (1) summary
      cl12013
      Location:16 → 275
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RNA

    1. XR_944338.4 RNA Sequence

    2. XR_427781.5 RNA Sequence

    3. XR_944339.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      142165308..142177433 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353743.1 → XP_054209718.1  F-BAR and double SH3 domains protein 1 isoform X3

      UniProtKB/TrEMBL
      E5RGT6

    2. XM_054353741.1 → XP_054209716.1  F-BAR and double SH3 domains protein 1 isoform X1

      UniProtKB/TrEMBL
      E5RGT6

    3. XM_054353742.1 → XP_054209717.1  F-BAR and double SH3 domains protein 1 isoform X2

      UniProtKB/TrEMBL
      E5RGT6

    4. XM_054353744.1 → XP_054209719.1  F-BAR and double SH3 domains protein 1 isoform X5

    5. XM_054353745.1 → XP_054209720.1  F-BAR and double SH3 domains protein 1 isoform X6

    RNA

    1. XR_008487189.1 RNA Sequence

    2. XR_008487191.1 RNA Sequence

    3. XR_008487190.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86WN1.1 GenPept UniProtKB/Swiss-Prot:Q86WN1

    Gene LinkOut

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

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