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Aliases for CCDC53 Gene

Aliases for CCDC53 Gene

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

External Ids for CCDC53 Gene

Previous GeneCards Identifiers for CCDC53 Gene

  • GC12M100910
  • GC12M102406
  • GC12M099466

Summaries for CCDC53 Gene

GeneCards Summary for CCDC53 Gene

CCDC53 (Coiled-Coil Domain Containing 53) is a Protein Coding gene. Diseases associated with CCDC53 include Wiskott-Aldrich Syndrome. Among its related pathways are Endocytosis.

UniProtKB/Swiss-Prot for CCDC53 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 CCDC53 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC53 Gene

Genomics for CCDC53 Gene

Regulatory Elements for CCDC53 Gene

Enhancers for CCDC53 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around CCDC53 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC53 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for CCDC53 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 CCDC53 Gene

Genes around CCDC53 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC53 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC53 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC53 Gene

Proteins for CCDC53 Gene

  • Protein details for CCDC53 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 CCDC53 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 CCDC53 Gene

Post-translational modifications for CCDC53 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC53 Gene

Domains & Families for CCDC53 Gene

Protein Domains for CCDC53 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC53 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 CCDC53: view

No data available for Gene Families for CCDC53 Gene

Function for CCDC53 Gene

Molecular function for CCDC53 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 CCDC53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with CCDC53: view
genes like me logo Genes that share phenotypes with CCDC53: view

Animal Models for CCDC53 Gene

MGI Knock Outs for CCDC53:

Animal Model Products

CRISPR Products

miRNA for CCDC53 Gene

miRTarBase miRNAs that target CCDC53

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 CCDC53 Gene

Localization for CCDC53 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC53 Gene

Early endosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC53 Gene COMPARTMENTS Subcellular localization image for CCDC53 gene
Compartment Confidence
cytoskeleton 5
endosome 3
cytosol 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CCDC53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IEA --
GO:0015629 actin cytoskeleton IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0071203 WASH complex IDA 19922875
genes like me logo Genes that share ontologies with CCDC53: view

Pathways & Interactions for CCDC53 Gene

SuperPathways for CCDC53 Gene

Superpath Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with CCDC53: view

Pathways by source for CCDC53 Gene

1 KEGG pathway for CCDC53 Gene

Gene Ontology (GO) - Biological Process for CCDC53 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 CCDC53: view

No data available for SIGNOR curated interactions for CCDC53 Gene

Drugs & Compounds for CCDC53 Gene

No Compound Related Data Available

Transcripts for CCDC53 Gene

Unigene Clusters for CCDC53 Gene

Coiled-coil domain containing 53:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC53 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: - -
SP2: - - -
SP3: -
SP4: -
SP5: - -
SP6: -

Relevant External Links for CCDC53 Gene

GeneLoc Exon Structure for
CCDC53
ECgene alternative splicing isoforms for
CCDC53

Expression for CCDC53 Gene

mRNA expression in normal human tissues for CCDC53 Gene

Protein differential expression in normal tissues from HIPED for CCDC53 Gene

This gene is overexpressed in Pancreas (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CCDC53 Gene



Protein tissue co-expression partners for CCDC53 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCDC53 Gene:

CCDC53

SOURCE GeneReport for Unigene cluster for CCDC53 Gene:

Hs.405692
genes like me logo Genes that share expression patterns with CCDC53: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CCDC53 Gene

Orthologs for CCDC53 Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC53 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CCDC53 34
  • 94.07 (n)
  • 92.78 (a)
-- 35
  • 83 (a)
OneToMany
-- 35
  • 93 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CCDC53 34
  • 93.7 (n)
  • 90.56 (a)
-- 35
  • 90 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ccdc53 34
  • 87.91 (n)
  • 90.11 (a)
Ccdc53 16
Ccdc53 35
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CCDC53 34
  • 99.48 (n)
  • 99.48 (a)
CCDC53 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc53 34
  • 88.1 (n)
  • 86.81 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 79 (a)
OneToMany
-- 35
  • 82 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC53 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC53 34
  • 78.21 (n)
  • 79.33 (a)
CCDC53 35
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC53 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc53 34
  • 71.51 (n)
  • 75.98 (a)
Str.4461 34
zebrafish
(Danio rerio)
Actinopterygii ccdc53 34
  • 66.67 (n)
  • 69.71 (a)
zgc55718 34
ccdc53 35
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005049 34
  • 47.68 (n)
  • 37.09 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7429 34
  • 47.7 (n)
  • 36.78 (a)
CG7429 35
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ddl-1 35
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToOne
Species where no ortholog for CCDC53 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 CCDC53 Gene

ENSEMBL:
Gene Tree for CCDC53 (if available)
TreeFam:
Gene Tree for CCDC53 (if available)

Paralogs for CCDC53 Gene

(1) SIMAP similar genes for CCDC53 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for CCDC53 Gene

genes like me logo Genes that share paralogs with CCDC53: view

No data available for Paralogs for CCDC53 Gene

Variants for CCDC53 Gene

Sequence variations from dbSNP and Humsavar for CCDC53 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1801519 -- 102,013,121(-) ATCTT(C/T)TTTTA reference, missense
rs7308082 -- 102,034,680(+) ACCTA(C/T)GAATA intron-variant
rs7311057 -- 102,047,747(+) AAAAT(G/T)GAATT intron-variant
rs1986854 -- 102,023,697(-) ACTCA(A/G)TGTAA intron-variant
rs7314571 -- 102,048,423(+) agcca(A/G)gtgtg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC53 Gene

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

Variation tolerance for CCDC53 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 CCDC53 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC53

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC53 Gene

Disorders for CCDC53 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC53 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
wiskott-aldrich syndrome
  • wiskott syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CCDC53

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC53
genes like me logo Genes that share disorders with CCDC53: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC53 Gene

Publications for CCDC53 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 65
  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 65
  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 65
  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 65
  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 65

Products for CCDC53 Gene

Sources for CCDC53 Gene

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