Aliases for FCHSD1 Gene

Aliases for FCHSD1 Gene

  • FCH And Double SH3 Domains 1 2 3 5
  • F-BAR And Double SH3 Domains Protein 1 3 4
  • Protein Nervous Wreck 2 3 4
  • NWK2 3 4
  • FCH And Double SH3 Domains Protein 1 3
  • Nervous Wreck Homolog 2 3
  • FLJ00007 2
  • FCHSD1 5

External Ids for FCHSD1 Gene

Previous GeneCards Identifiers for FCHSD1 Gene

  • GC05M141048
  • GC05M140999
  • GC05M136163
  • GC05M141018

Summaries for FCHSD1 Gene

GeneCards Summary for FCHSD1 Gene

FCHSD1 (FCH And Double SH3 Domains 1) is a Protein Coding gene. Diseases associated with FCHSD1 include Large Congenital Melanocytic Nevus and Juvenile Astrocytoma. An important paralog of this gene is FCHSD2.

UniProtKB/Swiss-Prot Summary for FCHSD1 Gene

Gene Wiki entry for FCHSD1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FCHSD1 Gene

Genomics for FCHSD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FCHSD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FCHSD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FCHSD1

Top Transcription factor binding sites by QIAGEN in the FCHSD1 gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA

Genomic Locations for FCHSD1 Gene

Latest Assembly
chr5:141,639,302-141,651,443
(GRCh38/hg38)
Size:
12,142 bases
Orientation:
Minus strand

Previous Assembly
chr5:141,018,869-141,030,985
(GRCh37/hg19 by Entrez Gene)
Size:
12,117 bases
Orientation:
Minus strand

chr5:141,018,869-141,030,986
(GRCh37/hg19 by Ensembl)
Size:
12,118 bases
Orientation:
Minus strand

Genomic View for FCHSD1 Gene

Genes around FCHSD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FCHSD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FCHSD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FCHSD1 Gene

Proteins for FCHSD1 Gene

  • Protein details for FCHSD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WN1-FCSD1_HUMAN
    Recommended name:
    F-BAR and double SH3 domains protein 1
    Protein Accession:
    Q86WN1
    Secondary Accessions:
    • Q6UX75
    • Q86Y77
    • Q9NXX8

    Protein attributes for FCHSD1 Gene

    Size:
    690 amino acids
    Molecular mass:
    76942 Da
    Quaternary structure:
    • Homodimer. Interacts (via F-BAR domain) with SNX9 (via SH3 domain). Interacts (via F-BAR domain) with SNX18 and SNX33. Interacts (via SH3 domain 1) with WASL (By similarity). Interacts (via SH3 domain 2) with ITSN1 (PubMed:29887380).
    SequenceCaution:
    • Sequence=BAA92232.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FCHSD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FCHSD1 Gene

Post-translational modifications for FCHSD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FCHSD1 Gene

Domains & Families for FCHSD1 Gene

Gene Families for FCHSD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FCHSD1 Gene

InterPro:
Blocks:
  • SH3 domain signature
  • Variant SH3
  • Cdc15/Fes/CIP4
ProtoNet:

Suggested Antigen Peptide Sequences for FCHSD1 Gene

GenScript: Design optimal peptide antigens:
  • FCH and double SH3 domains protein 1 (FCSD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86WN1

UniProtKB/Swiss-Prot:

FCSD1_HUMAN :
  • The F-BAR domain has an atypical, flat shape and binds preferentially to flat membranes (By similarity). Upon heterologous expression, the isolated F-BAR domain is localized at the cell membrane, and causes the formation of cellular protrusions (By similarity).
Domain:
  • The F-BAR domain has an atypical, flat shape and binds preferentially to flat membranes (By similarity). Upon heterologous expression, the isolated F-BAR domain is localized at the cell membrane, and causes the formation of cellular protrusions (By similarity).
genes like me logo Genes that share domains with FCHSD1: view

Function for FCHSD1 Gene

Molecular function for FCHSD1 Gene

UniProtKB/Swiss-Prot Function:
Promotes actin polymerization mediated by SNX9 and WASL.

Phenotypes From GWAS Catalog for FCHSD1 Gene

Gene Ontology (GO) - Molecular Function for FCHSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with FCHSD1: view
genes like me logo Genes that share phenotypes with FCHSD1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for FCHSD1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FCHSD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FCHSD1 Gene

Localization for FCHSD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FCHSD1 Gene

Cytoplasm. Perikaryon. Cell projection. Cytoplasmic vesicle. Note=Detected on neuronal cell bodies and cell projections, in part on cytoplasmic vesicles. {ECO:0000250 UniProtKB:Q6PFY1}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FCHSD1 gene
Compartment Confidence
cytoskeleton 3
nucleus 3
endosome 3
cytosol 2
plasma membrane 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FCHSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0031410 cytoplasmic vesicle IEA --
GO:0031594 neuromuscular junction IBA 21873635
GO:0032437 colocalizes_with cuticular plate ISS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with FCHSD1: view

Pathways & Interactions for FCHSD1 Gene

PathCards logo

SuperPathways for FCHSD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FCHSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007274 neuromuscular synaptic transmission IBA 21873635
GO:0030833 regulation of actin filament polymerization IBA 21873635
GO:0030838 positive regulation of actin filament polymerization ISS --
GO:0044803 multi-organism membrane organization IEA --
genes like me logo Genes that share ontologies with FCHSD1: view

No data available for Pathways by source and SIGNOR curated interactions for FCHSD1 Gene

Drugs & Compounds for FCHSD1 Gene

No Compound Related Data Available

Transcripts for FCHSD1 Gene

mRNA/cDNA for FCHSD1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FCHSD1

Alternative Splicing Database (ASD) splice patterns (SP) for FCHSD1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^
SP1: - - -
SP2: - - - -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b · 21c
SP1:
SP2:
SP3:
SP4:
SP5: - - -
SP6: - - -
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:

Relevant External Links for FCHSD1 Gene

GeneLoc Exon Structure for
FCHSD1

Expression for FCHSD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FCHSD1 Gene

mRNA differential expression in normal tissues according to GTEx for FCHSD1 Gene

This gene is overexpressed in Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for FCHSD1 Gene

This gene is overexpressed in Heart (45.4) and Lung (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FCHSD1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FCHSD1

SOURCE GeneReport for Unigene cluster for FCHSD1 Gene:

Hs.591257

Evidence on tissue expression from TISSUES for FCHSD1 Gene

  • Spleen(4.3)
  • Blood(4.2)
  • Liver(4.1)
  • Kidney(3.4)
genes like me logo Genes that share expression patterns with FCHSD1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FCHSD1 Gene

Orthologs for FCHSD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FCHSD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FCHSD1 30 31
  • 98.29 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FCHSD1 30
  • 90.72 (n)
Dog
(Canis familiaris)
Mammalia FCHSD1 30 31
  • 89.23 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fchsd1 30 17 31
  • 88.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fchsd1 30
  • 87.63 (n)
Oppossum
(Monodelphis domestica)
Mammalia FCHSD1 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 67 (a)
OneToMany
-- 31
  • 54 (a)
OneToMany
Chicken
(Gallus gallus)
Aves FCHSD1 30 31
  • 61.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FCHSD1 31
  • 45 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fchsd1 30
  • 58.16 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta nwk 31
  • 17 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10491 31
  • 33 (a)
OneToMany
Species where no ortholog for FCHSD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for FCHSD1 Gene

ENSEMBL:
Gene Tree for FCHSD1 (if available)
TreeFam:
Gene Tree for FCHSD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FCHSD1: view image

Paralogs for FCHSD1 Gene

Paralogs for FCHSD1 Gene

(1) SIMAP similar genes for FCHSD1 Gene using alignment to 4 proteins:

  • FCSD1_HUMAN
  • E5RGB1_HUMAN
  • E5RGT6_HUMAN
  • E5RK49_HUMAN
genes like me logo Genes that share paralogs with FCHSD1: view

Variants for FCHSD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FCHSD1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs32957 - p.Pro681Leu
rs3749760 - p.Asn344Lys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FCHSD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FCHSD1 Gene

Variant ID Type Subtype PubMed ID
nsv1154058 CNV deletion 26484159
nsv5034 CNV insertion 18451855

Variation tolerance for FCHSD1 Gene

Residual Variation Intolerance Score: 98.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.67; 72.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FCHSD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FCHSD1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FCHSD1 Gene

Disorders for FCHSD1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FCHSD1 Gene - From: COP

Disorder Aliases PubMed IDs
large congenital melanocytic nevus
  • congenital pigmented nevus
juvenile astrocytoma
  • pediatric astrocytoma
familial hypocalciuric hypercalcemia
  • familial benign hypercalcemia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FCHSD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FCHSD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FCHSD1 Gene

Publications for FCHSD1 Gene

  1. Identification and characterization of human FCHSD1 and FCHSD2 genes in silico. (PMID: 15067381) Katoh M … Katoh M (International journal of molecular medicine 2004) 2 3 4 23
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for FCHSD1 Gene

Sources for FCHSD1 Gene