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

Gene ID: 89848, updated on 3-Apr-2024

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 be located in cell projection and perikaryon. Predicted to be active in neuromuscular junction and recycling endosome. Predicted to colocalize with cuticular plate. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 9.3), lymph node (RPKM 8.7) and 24 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (141639302..141651418, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (142165308..142177433, complement)
105.20220307 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: 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. 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)

Genotypes

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

    See identical proteins and their annotated locations for NP_258260.1

    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_2023_10

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

  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

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

    See identical proteins and their annotated locations for XP_011536002.1

    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

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

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

  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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