Aliases for WASHC3 Gene

Aliases for WASHC3 Gene

  • WASH Complex Subunit 3 2 3 4 5
  • Coiled-Coil Domain-Containing Protein 53 3 4
  • Coiled-Coil Domain Containing 53 2 3
  • CGI-116 2 3
  • WASH Complex Subunit CCDC53 3
  • CCDC53 3
  • WASHC3 5

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. Diseases associated with WASHC3 include Ritscher-Schinzel Syndrome and Spastic Paraplegia 8, Autosomal Dominant. Among its related pathways are Endocytosis.

UniProtKB/Swiss-Prot Summary for WASHC3 Gene

  • Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting.

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 , Rfam classification and piRNA Summary for WASHC3 Gene

Genomics for WASHC3 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 CraniofacialAtlas 635.4 +0.4 440 2.2 SP1 HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 SIX5 ZNF692 POLR2A WASHC3 ENSG00000257222 RF00017-1232 UTP20 NUP37 PARPBP DRAM1
GH12J102118 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 19.9 -58.3 -58337 3.4 BRCA1 ARHGAP35 SP1 CREB1 PRDM10 ZNF629 TFE3 ZNF692 POLR2A BACH1 PARPBP NUP37 lnc-WASHC3-3 WASHC3 PMCH HE856024
GH12J101929 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.5 +125.9 125861 12.7 SP1 CTCF PRDM10 ZNF629 POLR2A BACH1 JUND STAT3 PRDM1 ZNF143 RPL9P24 lnc-PARPBP-8 PARPBP GNPTAB WASHC3 IGF1 RNA5SP369 RNU6-101P SYCP3 DRAM1
GH12J102051 Enhancer 0.6 Ensembl 35.5 +10.7 10724 0.8 FOXA1 CTBP1 NFE2 ZNF217 MAFG CUX1 GATA3 DPF2 MAFK JUND WASHC3 RF00017-1232 FJ601684-085 DRAM1
GH12J102021 Enhancer 0.6 Ensembl 35 +40.1 40148 1.6 SOX6 CEBPB FOXA2 MEF2D EP300 GATA3 CEBPG FOXA1 HNF4A MAFK WASHC3 FJ601684-085 RF00017-1232 DRAM1
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WASHC3

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:
  • Coiled-coil domain-containing protein 53 (CCD53_HUMAN)

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 as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting.

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 Models for WASHC3 Gene

MGI Knock Outs for WASHC3:
  • Washc3 Washc3<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for WASHC3 Gene

miRTarBase miRNAs that target WASHC3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WASHC3

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 2
nucleus 2
cytosol 2
golgi apparatus 2
extracellular 1
endoplasmic reticulum 1
lysosome 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 IEA,IDA 19922875
genes like me logo Genes that share ontologies with WASHC3: view

Pathways & Interactions for WASHC3 Gene

PathCards logo

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:0006887 exocytosis IBA 21873635
GO:0008150 biological_process ND --
GO:0015031 protein transport IEA --
GO:0030041 actin filament polymerization IBA 21873635
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

mRNA/cDNA for WASHC3 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WASHC3

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

No ASD Table

Relevant External Links for WASHC3 Gene

GeneLoc Exon Structure for
WASHC3

Expression for WASHC3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WASHC3

Evidence on tissue expression from TISSUES for WASHC3 Gene

  • Liver(4.3)
  • Adrenal gland(4.3)
  • Nervous system(2.6)
  • Muscle(2.5)
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 30 31
  • 99.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC53 30
  • 94.07 (n)
-- 31
  • 93 (a)
OneToMany
-- 31
  • 83 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia CCDC53 30
  • 93.7 (n)
-- 31
  • 90 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Ccdc53 30
  • 88.1 (n)
Mouse
(Mus musculus)
Mammalia Ccdc53 30 31
  • 87.91 (n)
OneToOne
Washc3 17
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 82 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC53 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCDC53 30 31
  • 78.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC53 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc53 30
  • 71.51 (n)
Str.4461 30
Zebrafish
(Danio rerio)
Actinopterygii ccdc53 30 31
  • 66.67 (n)
OneToOne
zgc55718 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG7429 30 31
  • 47.7 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005049 30
  • 47.68 (n)
Worm
(Caenorhabditis elegans)
Secernentea ddl-1 31
  • 27 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToOne
Species where no ortholog for WASHC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)

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

Additional dbSNP identifiers (rs#s) for WASHC3 Gene

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 and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WASHC3 Gene

Disorders for WASHC3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for WASHC3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ritscher-schinzel syndrome
  • craniocerebellocardiac dysplasia
spastic paraplegia 8, autosomal dominant
  • spg8
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with WASHC3: view

No data available for 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
  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
  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
  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
  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

Products for WASHC3 Gene

Sources for WASHC3 Gene