CCDC53 Gene
protein-coding GIFtS: 48
GCID: GC12M102406
|
|
coiled-coil domain containing 53
| |
Aliases for CCDC53 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Coiled-Coil Domain Containing 531 2 | | CGI-1161 2 | | Coiled-Coil Domain-Containing Protein 532 3 | | WASH Complex Subunit CCDC532 |
Export aliases for CCDC53 gene to outside databasesPrevious GC identifers: GC12M100910 GC12M099466 |
Summaries for CCDC53 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: CCD53_HUMAN, Q9Y3C0Function: Component of the WASH complex, a complex present at the surface of endosomes that recruits and activates theArp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules that serveas transport intermediates during endosome sorting Gene Wiki entry for CCDC53
|
Genomic Views for CCDC53 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_029419.12
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the CCDC53 gene promoter: HOXA9B HOXA9 Nkx3-1 Nkx3-1 v4 AML1a Nkx3-1 v1 CUTL1 Nkx3-1 v2 Nkx3-1 v3 Meis-1 Other transcription factors
Search SABiosciences Chromatin IP Primers for CCDC53
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC53 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q23.2 Ensembl cytogenetic band: 12q23.2 HGNC cytogenetic band: 12q23.3CCDC53 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12M102406: view genomic region
(about GC identifiers)
Start:
|
102,406,705 bp from pter |
End:
|
102,455,927 bp from pter |
Size:
|
49,223 bases |
Orientation:
|
minus strand |
|
Proteins for CCDC53 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: CCD53_HUMAN, Q9Y3C0 (See
protein sequence)Recommended Name: WASH complex subunit CCDC53 Size: 194 amino acids; 21173 Da
Subunit: Component of the WASH complex, composed of F-actin-capping protein subunit alpha (CAPZA1, CAPZA2 or CAPZA3),F-actin-capping protein subunit beta (CAPZB), WASH (WASH1, WASH2P, WASH3P, WASH4P, WASH5P or WASH6P), FAM21 (FAM21A,FAM21B or FAM21C), KIAA1033, KIAA0196 and CCDC53
Secondary accessions: B2RC74 Q53FF0 Q6IAI4 Q96QK0Explore the universe of human proteins at neXtProt for CCDC53: NX_Q9Y3C0
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y3C0 CCDC53 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_057137.1 ENSEMBL proteins: ENSP00000438122 ENSP00000240079 ENSP00000440134 ENSP00000443857 ENSP00000441810 ENSP00000440139 ENSP00000443922 ENSP00000445501 Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table
CCDC53 for ontologies About GeneDecksing
CCDC53 Antibody Products: Assay Products for CCDC53: |
Protein
Domains / Families for CCDC53 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CCDC53 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9Y3C0ProtoNet protein and cluster: Q9Y3C0 UniProtKB/Swiss-Prot: CCD53_HUMAN, Q9Y3C0Similarity: Belongs to the CCDC53 family |
Function for CCDC53 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: CCD53_HUMAN, Q9Y3C0Function: Component of the WASH complex, a complex present at the surface of endosomes that recruits and activates theArp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules that serveas transport intermediates during endosome sorting
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC53 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC53 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CCDC53 (NM_016053) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CCDC53 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC53  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC53 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
CCDC53 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for CCDC53:
|
Pathways & Interactions for CCDC53 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CCDC53
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/41 Interacting proteins for CCDC53 (Q9Y3C01, 2, 3 ENSP000002400794) via UniProtKB, MINT, STRING, and/or I2D (see all 41)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
ND | -- |
CCDC53 for ontologies About GeneDecksing
|
Drugs & Compounds for CCDC53 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for CCDC53 Search CenterWatch for drugs/clinical trials and news about CCDC53 / CCD53 
|
Transcripts for CCDC53 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for CCDC53 gene: NM_016053.2 Unigene Cluster for CCDC53: Coiled-coil domain containing 53 Hs.405692 [show with all ESTs]Unigene Representative Sequence: BQ06771313 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000538761 ENST00000240079(uc010svw.2) ENST00000544341 ENST00000545679 ENST00000540536 ENST00000535501 ENST00000536197 ENST00000542923 ENST00000539515 ENST00000541569 ENST00000500685 ENST00000326351 ENST00000536930
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC53 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC53 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CCDC53 (NM_016053) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CCDC53 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC53  |
Additional cDNA sequence: AF151874.1 AF155655.1 AK223339.1 AK314970.1 BC010889.1 CR457171.1 12 DOTS entries: DT.217397 DT.40115837 DT.40275478 DT.100787444 DT.95162976 DT.100787443 DT.100024439 DT.100787442 DT.121182008 DT.91654945 DT.92431732 DT.95309435 24/175 AceView cDNA sequences (see all 175): BM932235 AA725258 AI702842 CR621235 AA716324 CA417919 AA987345 AI348351 CR623956 AV703174 AI306519 AA933054 AA743656 AA152196 AV703111 AV707776 CR609797 AA131262 AA459222 AI382077 CD368178 AI126119 AI739611 BX400128 GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC53 (see all 6) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | |
| SP1: | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for CCDC53
|
Expression for CCDC53 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CCDC53 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TCCACTACCA
About this image See CCDC53 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for CCDC53
SOURCE GeneReport for Unigene cluster: Hs.405692 SABiosciences Custom PCR Arrays for CCDC53
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCDC53 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CCDC53 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC53 | |  | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC53 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC53 |
Orthologs for CCDC53 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for CCDC53 gene from 7/22 species (see all 22) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
mouse (Mus musculus) |
Mammalia |
Ccdc531 , 5 |
coiled-coil domain containing 531, 5 |
87.8(n)1 90.21(a)1 |
  |
10 (43.70 cM)5 672821 NM_026070.31 NP_080346.11 882010975 |
chicken (Gallus gallus) |
Aves |
CCDC531 |
coiled-coil domain containing 53 |
78.52(n) 77.84(a) |
  |
418094 XM_416327.3 XP_416327.3 |
lizard (Anolis carolinensis) |
Reptilia |
CCDC536 |
-- |
74(a) |
1 ↔ 1 |
5(17488753-17504727) |
tropical clawed frog (Xenopus tropicalis) |
Amphibia |
Str.44612 |
Transcribed sequence with moderate similarity to protein more |
80.8(n) |
  |
137728057 |
zebrafish (Danio rerio) |
Actinopterygii |
zgc557182 |
hypothetical protein MGC55718 |
77.17(n) |
  |
393142 BC045438.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
CG74291 |
CG7429 |
47.7(n) 36.78(a) |
  |
34097 NM_135334.4 NP_609178.1 |
worm (Caenorhabditis elegans) |
Secernentea |
ddl-16 |
WASH complex subunit CCDC53 homolog |
25(a) |
1 ↔ 1 |
II(5647135-5647868) |
ENSEMBL Gene Tree for CCDC53 (if available) TreeFam Gene Tree for CCDC53 (if available)  |
Paralogs for CCDC53 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for CCDC53 gene
1 SIMAP similar gene for CCDC53 using alignment to 8 protein entries: CCD53_HUMAN (see all proteins):FBXL18
CCDC53 for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for CCDC53 PGOHUM00000260416 PGOHUM00000241832
|
Genomic Variants for CCDC53 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 12 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for CCDC53 (102406705 - 102455927 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for CCDC53: --  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CCDC53 |
|
Disorders
/ Diseases for CCDC53 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CCDC53 for disorders About GeneDecksing
3 diseases for CCDC53: About MalaCardsspastic paraplegia paraplegia spasticity 1 disease from the University of Copenhagen DISEASES database for CCDC53:Paraplegia Export disorders for CCDC53 gene to outside databases
|
Publications for CCDC53 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CCDC53 gene, integrated from 9 sources (see all 13): (articles sorted by number of sources associating them with CCDC53) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2, 3 Lai C.H....Lin W. (2000)
- The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex. (PubMed id 19922875)1, 2 Derivery E.... Gautreau A. (2009)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- An empirical framework for binary interactome mapping . (PubMed id 19060904)1 Venkatesan K....Vidal M. (2009)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
- Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
|
External Searches for CCDC53 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing CCDC53 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CCDC53 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CCDC53 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for CCDC53 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for CCDC53 gene: Search GeneIP for patents involving CCDC53
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for CCDC53 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
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| |  |  |  |  | | | | |
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 | | CCDC53 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC53 |
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| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC53 |
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