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Aliases for FCHO1 Gene

Aliases for FCHO1 Gene

  • FCH Domain Only 1 2 3 5
  • KIAA0290 4

External Ids for FCHO1 Gene

Previous GeneCards Identifiers for FCHO1 Gene

  • GC19P017723
  • GC19P017599
  • GC19P017862
  • GC19P017423
  • GC19P017956
  • GC19P017748
  • GC19P018221
  • GC19P018326
  • GC19P018698

Summaries for FCHO1 Gene

GeneCards Summary for FCHO1 Gene

FCHO1 (FCH Domain Only 1) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. GO annotations related to this gene include AP-2 adaptor complex binding. An important paralog of this gene is FCHO2.

UniProtKB/Swiss-Prot for FCHO1 Gene

  • Functions in an early step of clathrin-mediated endocytosis. Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. May regulate Bmp signaling by regulating clathrin-mediated endocytosis of Bmp receptors.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FCHO1 Gene

Genomics for FCHO1 Gene

Regulatory Elements for FCHO1 Gene

Enhancers for FCHO1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G017747 1.2 ENCODE dbSUPER 25 +0.2 151 1.4 HDGF PKNOX1 FOXA2 ATF1 ARNT SIN3A GLIS2 ZNF143 KLF7 FOS FCHO1 LOC105372299
GH19G017749 1.3 ENCODE dbSUPER 22.6 +3.4 3364 3.4 HNRNPUL1 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT AGO1 ARID4B SIN3A FCHO1 ENSG00000268030 ENSG00000268938 ENSG00000268743 MVB12A LOC105372299 GC19P019547
GH19G017778 1.6 FANTOM5 ENCODE dbSUPER 17.9 +31.3 31297 1.6 HDGF PKNOX1 AGO1 ARID4B SIN3A ZNF48 ZBTB7B TCF12 SLC30A9 ZNF121 FCHO1 ENSG00000268030 COLGALT1 ENSG00000268743 FAM129C JAK3 MAST3 GC19M017755 B3GNT3
GH19G017775 1.2 Ensembl ENCODE 17.1 +28.6 28637 1.8 HDAC1 HDGF PKNOX1 TBL1XR1 RB1 YBX1 THRB RAD21 GATA2 EGR1 FCHO1 UNC13A INSL3 RPL18A SNORA68 GC19M017755 B3GNT3
GH19G017718 1.1 ENCODE 17.6 -27.1 -27140 3.8 PKNOX1 WRNIP1 ARID4B DMAP1 ZNF2 YY1 ZNF143 FOS DEK ZNF263 FCHO1 UNC13A B3GNT3 MAP1S GC19P019522
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FCHO1 on UCSC Golden Path with GeneCards custom track

Promoters for FCHO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000107951 -17 1000 HDGF PKNOX1 ATF1 FOXA2 ARNT GLIS2 ZNF143 FOS SP3 SP5

Genomic Location for FCHO1 Gene

Chromosome:
19
Start:
17,747,718 bp from pter
End:
17,788,568 bp from pter
Size:
40,851 bases
Orientation:
Plus strand

Genomic View for FCHO1 Gene

Genes around FCHO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FCHO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FCHO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FCHO1 Gene

Proteins for FCHO1 Gene

  • Protein details for FCHO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14526-FCHO1_HUMAN
    Recommended name:
    F-BAR domain only protein 1
    Protein Accession:
    O14526
    Secondary Accessions:
    • A6NHE6
    • A8K5U5
    • B4E120
    • Q05C93
    • Q8IW22

    Protein attributes for FCHO1 Gene

    Size:
    889 amino acids
    Molecular mass:
    96861 Da
    Quaternary structure:
    • May oligomerize and form homotetramer (By similarity). Interacts with AP2A2 and AP2B1; 2 subunits of the adaptor protein complex AP-2. Interacts with DAB2. Interacts with clathrin (CLTC or CLTCL1). Interacts with EPS15, EPS15R and ITSN1. Interacts with AGFG1 and CALM. May interact with ACVR1; linking this receptor to clathrin-mediated endocytosis.
    SequenceCaution:
    • Sequence=BAA22959.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FCHO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FCHO1 Gene

Post-translational modifications for FCHO1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for FCHO1
  • Santa Cruz Biotechnology (SCBT) Antibodies for FCHO1

No data available for DME Specific Peptides for FCHO1 Gene

Domains & Families for FCHO1 Gene

Gene Families for FCHO1 Gene

Protein Domains for FCHO1 Gene

Suggested Antigen Peptide Sequences for FCHO1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14526

UniProtKB/Swiss-Prot:

FCHO1_HUMAN :
  • Belongs to the FCHO family.
Family:
  • Belongs to the FCHO family.
genes like me logo Genes that share domains with FCHO1: view

Function for FCHO1 Gene

Molecular function for FCHO1 Gene

UniProtKB/Swiss-Prot Function:
Functions in an early step of clathrin-mediated endocytosis. Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. May regulate Bmp signaling by regulating clathrin-mediated endocytosis of Bmp receptors.

Gene Ontology (GO) - Molecular Function for FCHO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19713939
GO:0035612 AP-2 adaptor complex binding IDA 22484487
genes like me logo Genes that share ontologies with FCHO1: view
genes like me logo Genes that share phenotypes with FCHO1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FCHO1 Gene

Localization for FCHO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FCHO1 Gene

Membrane, clathrin-coated pit; Peripheral membrane protein; Cytoplasmic side. Note=Associated with forming but not mature clathrin-coated vesicles. The recruitment to coated-pits precede the one of clathrin and the adaptor protein complex AP-2. According to PubMed:17617719 it may also dynamically associate with Golgi/TGN membranes.

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 FCHO1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for FCHO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA,TAS --
GO:0005886 plasma membrane IDA 20448150
GO:0005905 clathrin-coated pit IEA,IDA 20448150
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with FCHO1: view

Pathways & Interactions for FCHO1 Gene

genes like me logo Genes that share pathways with FCHO1: view

Gene Ontology (GO) - Biological Process for FCHO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0048268 clathrin coat assembly IMP 20448150
GO:0061024 membrane organization TAS --
GO:0072583 clathrin-dependent endocytosis IEA,IMP 20448150
genes like me logo Genes that share ontologies with FCHO1: view

No data available for SIGNOR curated interactions for FCHO1 Gene

Transcripts for FCHO1 Gene

Unigene Clusters for FCHO1 Gene

FCH domain only 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FCHO1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a ·
SP1: - - - - - - -
SP2:
SP3:
SP4:
SP5:
SP6: - - - - -
SP7: - -
SP8: - -
SP9:
SP10: - -
SP11:

ExUns: 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31
SP1: - - -
SP2: - -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for FCHO1 Gene

GeneLoc Exon Structure for
FCHO1
ECgene alternative splicing isoforms for
FCHO1

Expression for FCHO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FCHO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FCHO1 Gene

This gene is overexpressed in Whole Blood (x7.6).

Protein differential expression in normal tissues from HIPED for FCHO1 Gene

This gene is overexpressed in Serum (24.1), Lymph node (14.1), Blymphocyte (8.3), and Peripheral blood mononuclear cells (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FCHO1 Gene



Protein tissue co-expression partners for FCHO1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FCHO1 Gene:

FCHO1

SOURCE GeneReport for Unigene cluster for FCHO1 Gene:

Hs.96485

Evidence on tissue expression from TISSUES for FCHO1 Gene

  • Nervous system(4.7)
  • Blood(4.2)
genes like me logo Genes that share expression patterns with FCHO1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FCHO1 Gene

Orthologs for FCHO1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FCHO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FCHO1 34 35
  • 99.21 (n)
dog
(Canis familiaris)
Mammalia FCHO1 34 35
  • 89.78 (n)
cow
(Bos Taurus)
Mammalia FCHO1 34 35
  • 87.67 (n)
mouse
(Mus musculus)
Mammalia Fcho1 34 16 35
  • 82.87 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 60 (a)
OneToMany
-- 35
  • 55 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia FCHO1 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves FCHO1 35
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FCHO1 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fcho1 34
  • 57.44 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.26150 34
zebrafish
(Danio rerio)
Actinopterygii fcho1 34
  • 60.31 (n)
FCHO1 35
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8176 35
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fcho-1 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
OneToMany
Species where no ortholog for FCHO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for FCHO1 Gene

ENSEMBL:
Gene Tree for FCHO1 (if available)
TreeFam:
Gene Tree for FCHO1 (if available)

Paralogs for FCHO1 Gene

Variants for FCHO1 Gene

Sequence variations from dbSNP and Humsavar for FCHO1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000051042 -- 17,768,992(+) AAAAA(A/T)AAGCT intron-variant
rs1000140049 -- 17,779,262(+) CACGG(A/G)AGGAG intron-variant
rs1000296448 -- 17,785,647(+) GTTAA(C/T)ATGGT intron-variant
rs1000321446 -- 17,755,928(+) CAGAG(A/G)TGTGA intron-variant
rs1000393067 -- 17,785,975(+) AAAAA(-/T)TTTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FCHO1 Gene

Variant ID Type Subtype PubMed ID
dgv50n68 CNV loss 17160897
nsv1071918 CNV deletion 25765185
nsv1138674 CNV deletion 24896259

Variation tolerance for FCHO1 Gene

Residual Variation Intolerance Score: 51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.45; 43.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FCHO1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FCHO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FCHO1 Gene

Disorders for FCHO1 Gene

Relevant External Links for FCHO1

Genetic Association Database (GAD)
FCHO1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FCHO1

No disorders were found for FCHO1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FCHO1 Gene

Publications for FCHO1 Gene

  1. Distinct and separable activities of the endocytic clathrin-coat components Fcho1/2 and AP-2 in developmental patterning. (PMID: 22484487) Umasankar P.K. … Traub L.M. (Nat. Cell Biol. 2012) 3 4 64
  2. FCHo proteins are nucleators of clathrin-mediated endocytosis. (PMID: 20448150) Henne W.M. … McMahon H.T. (Science 2010) 3 4 64
  3. Dynamic behavior of FCHO1 revealed by live-cell imaging microscopy: its possible involvement in clathrin-coated vesicle formation. (PMID: 17617719) Sakaushi S. … Sugimoto K. (Biosci. Biotechnol. Biochem. 2007) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64

Products for FCHO1 Gene

Sources for FCHO1 Gene

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