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Aliases for WASHC3 Gene

Aliases for WASHC3 Gene

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

Additional gene information for WASHC3 Gene

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

Genomics for WASHC3 Gene

GeneHancer (GH) Regulatory Elements for WASHC3 Gene

Promoters and enhancers for WASHC3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J102060 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 685.4 +0.5 474 2.1 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 WASHC3 ENSG00000257222 UTP20 NUP37 ST13P22 PARPBP NENFP2
GH12J102118 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19.9 -58.4 -58388 3.3 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B CBX5 NUP37 PARPBP WASHC3 ENSG00000257222 PMCH HELLPAR
GH12J102009 Enhancer 0.9 Ensembl ENCODE 24.8 +51.4 51356 1.8 MAX EBF1 BATF IRF4 POLR2A NFATC1 EED ATF7 ETV6 BCLAF1 WASHC3 NENFP2 DRAM1
GH12J101929 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.5 +127.0 126981 10.5 HDGF PKNOX1 ATF1 SMAD1 FEZF1 IRF4 GLIS2 ARID2 ZNF207 ZNF143 RPL9P24 PARPBP GNPTAB WASHC3 IGF1 RNA5SP369 RNU6-101P SYCP3 DRAM1 CHPT1
GH12J102415 Enhancer 0.8 dbSUPER 19.7 -354.3 -354301 1.6 FOXA2 RAD21 RARA YY1 EGR1 RXRA CEBPB NFYC REST PPARG WASHC3 IGF1 PARPBP GC12M102404 GC12M102374 LINC02456
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WASHC3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for WASHC3 Gene

Genomic Locations for WASHC3 Gene
chr12:102,012,840-102,062,149
(GRCh38/hg38)
Size:
49,310 bases
Orientation:
Minus strand
chr12:102,406,705-102,455,927
(GRCh37/hg19)
Size:
49,223 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-WASC3_HUMAN
    Recommended name:
    WASH complex subunit 3
    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 (WASHC1, WASH2P or WASH3P), WASHC2 (WASHC2A or WASHC2C), WASHC3, WASHC4 and WASHC5. The WASH core complex associates via WASHC2 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

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

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:

WASC3_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).

Phenotypes From GWAS Catalog for WASHC3 Gene

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 Model Products

miRNA for WASHC3 Gene

miRTarBase miRNAs that target WASHC3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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
cytoskeleton 3
endosome 3
plasma membrane 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:0071203 WASH complex IDA,IEA 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: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

Drugs & Compounds for WASHC3 Gene

No Compound Related Data Available

Transcripts for WASHC3 Gene

Clone 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

Evidence on tissue expression from TISSUES for WASHC3 Gene

  • Adrenal gland(4.3)
  • Liver(4.3)
  • Muscle(2.1)
No Expression Related Data Available

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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC53 33
  • 94.07 (n)
-- 34
  • 93 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CCDC53 33
  • 93.7 (n)
-- 34
  • 90 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ccdc53 33
  • 88.1 (n)
mouse
(Mus musculus)
Mammalia Ccdc53 34 33
  • 87.91 (n)
OneToOne
Washc3 16
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 82 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC53 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC53 34 33
  • 78.21 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC53 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc53 33
  • 71.51 (n)
Str.4461 33
zebrafish
(Danio rerio)
Actinopterygii ccdc53 34 33
  • 66.67 (n)
OneToOne
zgc55718 33
fruit fly
(Drosophila melanogaster)
Insecta CG7429 34 33
  • 47.7 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005049 33
  • 47.68 (n)
worm
(Caenorhabditis elegans)
Secernentea ddl-1 34
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for WASHC3: view image

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 Variation AA Info Type
rs1000012587 -- 102,051,214(-) GGGGGG/GGGGG intron_variant
rs1000015909 -- 102,041,551(-) A/G intron_variant
rs1000057977 -- 102,048,710(-) T/C intron_variant
rs1000088568 -- 102,048,987(-) T/C intron_variant
rs1000184166 -- 102,028,631(-) T/C 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)

Additional Variant Information 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

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 DD (Proceedings of the National Academy of Sciences of the United States of America 2010) 2 3 4 58
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4 58
  3. The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex. (PMID: 19922875) Derivery E … Gautreau A (Developmental cell 2009) 3 4 58
  4. 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 58
  5. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu RM … Chen JL (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 58

Products for WASHC3 Gene

Sources for WASHC3 Gene

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