Free for academic non-profit institutions. Other users need a Commercial license

Aliases for WASHC3 Gene

Aliases for WASHC3 Gene

  • WASH Complex Subunit 3 2 3
  • Coiled-Coil Domain Containing 53 2 3 5
  • CCDC53 3 4 5
  • Coiled-Coil Domain-Containing Protein 53 3 4
  • WASH Complex Subunit CCDC53 3
  • CGI-116 3

External Ids for WASHC3 Gene

Previous HGNC Symbols for WASHC3 Gene

  • CCDC53

Summaries for WASHC3 Gene

GeneCards Summary for WASHC3 Gene

WASHC3 (WASH Complex Subunit 3) is a Protein Coding gene. Among its related pathways are Endocytosis.

UniProtKB/Swiss-Prot for WASHC3 Gene

  • Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093).

Gene Wiki entry for WASHC3 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WASHC3 Gene

Genomics for WASHC3 Gene

Regulatory Elements for WASHC3 Gene

Enhancers for WASHC3 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
GH12F102060 1 ENCODE 35.5 +0.5 475 2.1 HDGF PKNOX1 ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 BRCA1 ETS1 UTP20 WASHC3 NUP37 ENSG00000257222 ST13P22 PARPBP NENFP2
GH12F102009 1 Ensembl ENCODE 24.8 +51.4 51357 1.8 MXI1 TBL1XR1 SIN3A MAX EBF1 CBX5 POLR2A EED ETV6 CHD2 WASHC3 NENFP2
GH12F102118 1.1 ENCODE 19.8 -58.4 -58388 3.3 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 FOS SP3 NFYC WASHC3 PMCH PARPBP ENSG00000257222 HELLPAR
GH12F102023 0.8 ENCODE 26.1 +38.4 38355 0.3 SOX13 CEBPG ZNF644 RAD21 YY1 RARA NR2F6 HOMEZ GATAD2A TEAD1 WASHC3 NENFP2
GH12F101929 1.6 FANTOM5 Ensembl ENCODE 10.5 +127.0 126981 10.5 HDGF PKNOX1 ATF1 WRNIP1 FEZF1 GLIS2 ZNF207 FOS JUNB REST GNPTAB WASHC3 IGF1 RNA5SP369 RNU6-101P SYCP3 DRAM1 CHPT1 RPL9P24 GC12P101929
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WASHC3 on UCSC Golden Path with GeneCards custom track

Promoters for WASHC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090488 349 1600 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF48 BRCA1 ETS1 YY1

Genomic Location for WASHC3 Gene

Chromosome:
12
Start:
102,012,840 bp from pter
End:
102,062,149 bp from pter
Size:
49,310 bases
Orientation:
Minus strand

Genomic View for WASHC3 Gene

Genes around WASHC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WASHC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WASHC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WASHC3 Gene

Proteins for WASHC3 Gene

  • Protein details for WASHC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3C0-CCD53_HUMAN
    Recommended name:
    WASH complex subunit CCDC53
    Protein Accession:
    Q9Y3C0
    Secondary Accessions:
    • B2RC74
    • Q53FF0
    • Q6IAI4
    • Q96QK0

    Protein attributes for WASHC3 Gene

    Size:
    194 amino acids
    Molecular mass:
    21173 Da
    Quaternary structure:
    • Component of the WASH core complex also described as WASH regulatory complex (SHRC) composed of WASH (WASH1, WASH2P or WASH3P), FAM21, KIAA1033/SWIP, KIAA0196/strumpellin and CCDC53. The WASH core complex associates via FAM21 with the F-actin-capping protein dimer (formed by CAPZA1, CAPZA2 or CAPZA3 and CAPZB) in a transient or substoichiometric manner which was initially described as WASH complex.

neXtProt entry for WASHC3 Gene

Post-translational modifications for WASHC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for WASHC3 Gene

Domains & Families for WASHC3 Gene

Gene Families for WASHC3 Gene

Protein Domains for WASHC3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for WASHC3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y3C0

UniProtKB/Swiss-Prot:

CCD53_HUMAN :
  • Belongs to the CCDC53 family.
Family:
  • Belongs to the CCDC53 family.
genes like me logo Genes that share domains with WASHC3: view

Function for WASHC3 Gene

Molecular function for WASHC3 Gene

UniProtKB/Swiss-Prot Function:
Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093).

Gene Ontology (GO) - Molecular Function for WASHC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with WASHC3: view
genes like me logo Genes that share phenotypes with WASHC3: view

Animal Models for WASHC3 Gene

MGI Knock Outs for WASHC3:

Animal Model Products

miRNA for WASHC3 Gene

miRTarBase miRNAs that target WASHC3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for WASHC3 Gene

Localization for WASHC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WASHC3 Gene

Early endosome.

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 WASHC3 gene
Compartment Confidence
endosome 4
cytoskeleton 3
plasma membrane 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for WASHC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0015629 actin cytoskeleton IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0071203 WASH complex IEA,IDA 19922875
genes like me logo Genes that share ontologies with WASHC3: view

Pathways & Interactions for WASHC3 Gene

SuperPathways for WASHC3 Gene

SuperPathway Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with WASHC3: view

Pathways by source for WASHC3 Gene

1 KEGG pathway for WASHC3 Gene

Gene Ontology (GO) - Biological Process for WASHC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0008150 biological_process ND --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with WASHC3: view

No data available for SIGNOR curated interactions for WASHC3 Gene

Transcripts for WASHC3 Gene

Unigene Clusters for WASHC3 Gene

Coiled-coil domain containing 53:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for WASHC3 Gene

No ASD Table

Relevant External Links for WASHC3 Gene

GeneLoc Exon Structure for
WASHC3
ECgene alternative splicing isoforms for
WASHC3

Expression for WASHC3 Gene

NURSA nuclear receptor signaling pathways regulating expression of WASHC3 Gene:

WASHC3

SOURCE GeneReport for Unigene cluster for WASHC3 Gene:

Hs.405692
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for WASHC3 Gene

Orthologs for WASHC3 Gene

This gene was present in the common ancestor of animals.

Orthologs for WASHC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC53 34 35
  • 99.48 (n)
cow
(Bos Taurus)
Mammalia CCDC53 34
  • 94.07 (n)
-- 35
  • 93 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CCDC53 34
  • 93.7 (n)
-- 35
  • 90 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ccdc53 34
  • 88.1 (n)
mouse
(Mus musculus)
Mammalia Ccdc53 34 16 35
  • 87.91 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 82 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC53 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC53 34 35
  • 78.21 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC53 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc53 34
  • 71.51 (n)
Str.4461 34
zebrafish
(Danio rerio)
Actinopterygii ccdc53 34 35
  • 66.67 (n)
zgc55718 34
fruit fly
(Drosophila melanogaster)
Insecta CG7429 34 35
  • 47.7 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005049 34
  • 47.68 (n)
worm
(Caenorhabditis elegans)
Secernentea ddl-1 35
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToOne
Species where no ortholog for WASHC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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 WASHC3 Gene

ENSEMBL:
Gene Tree for WASHC3 (if available)
TreeFam:
Gene Tree for WASHC3 (if available)

Paralogs for WASHC3 Gene

Pseudogenes.org Pseudogenes for WASHC3 Gene

genes like me logo Genes that share paralogs with WASHC3: view

No data available for Paralogs for WASHC3 Gene

Variants for WASHC3 Gene

Sequence variations from dbSNP and Humsavar for WASHC3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs10507138 -- 102,024,826(+) AACCT(A/G)TATGT intron-variant
rs10778165 -- 102,027,566(+) TTAAT(A/C)AGAAA intron-variant
rs10778166 -- 102,029,103(+) ATTCC(A/C)AAGGG intron-variant
rs10778167 -- 102,046,468(+) TTTTG(C/T)ATTTT intron-variant
rs10778168 -- 102,047,224(+) ACAAG(C/T)TGGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for WASHC3 Gene

Variant ID Type Subtype PubMed ID
esv3630585 CNV loss 21293372
esv3630586 CNV gain 21293372
nsv1053046 CNV gain 25217958

Variation tolerance for WASHC3 Gene

Residual Variation Intolerance Score: 58.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WASHC3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WASHC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WASHC3 Gene

Disorders for WASHC3 Gene

Relevant External Links for WASHC3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WASHC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WASHC3

No disorders were found for WASHC3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for WASHC3 Gene

Publications for WASHC3 Gene

  1. WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes. (PMID: 20498093) Jia D. … Billadeau D.D. (Proc. Natl. Acad. Sci. U.S.A. 2010) 2 3 4 64
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 2 3 4 64
  3. The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex. (PMID: 19922875) Derivery E. … Gautreau A. (Dev. Cell 2009) 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. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu R.-M. … Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4 64

Products for WASHC3 Gene

Sources for WASHC3 Gene

Content
Loading form....