Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CDK5RAP3 (CDK5 regulatory subunit associated protein 3)

Identity

Alias (NCBI)C53
HSF-27
IC53
LZAP
MST016
OK/SW-cl.114
PP1553
HGNC (Hugo) CDK5RAP3
HGNC Alias symbMST016
FLJ13660
C53
IC53
HSF-27
OK/SW-cl.114
LZAP
HGNC Alias nameischemic heart CDK5 activator-binding protein C53
 LXXLL/leucine-zipper-containing ARFbinding protein
LocusID (NCBI) 80279
Atlas_Id 43880
Location 17q21.32  [Link to chromosome band 17q21]
Location_base_pair Starts at 47971113 and ends at 47981781 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CDK5RAP3 (17q21.32) / NCAPD3 (11q25)CDK5RAP3 (17q21.32) / RNF43 (17q22)CDK5RAP3 (17q21.32) / TRERF1 (6p21.1)
LOC100507412 (-) / CDK5RAP3 (17q21.32)NF1 (17q11.2) / CDK5RAP3 (17q21.32)RACK1 (5q35.3) / CDK5RAP3 (17q21.32)
CDK5RAP3 17q21.32 / RNF43 17q22NF1 17q11.2 / CDK5RAP3 17q21.32

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(3;17)(p21;q21) SMARCC1/CDK5RAP3

External links

Nomenclature
HGNC (Hugo)CDK5RAP3   18673
Cards
Entrez_Gene (NCBI)CDK5RAP3    CDK5 regulatory subunit associated protein 3
AliasesC53; HSF-27; IC53; LZAP; 
MST016; OK/SW-cl.114; PP1553
GeneCards (Weizmann)CDK5RAP3
Ensembl hg19 (Hinxton)ENSG00000108465 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108465 [Gene_View]  ENSG00000108465 [Sequence]  chr17:47971113-47981781 [Contig_View]  CDK5RAP3 [Vega]
ICGC DataPortalENSG00000108465
TCGA cBioPortalCDK5RAP3
AceView (NCBI)CDK5RAP3
Genatlas (Paris)CDK5RAP3
SOURCE (Princeton)CDK5RAP3
Genetics Home Reference (NIH)CDK5RAP3
Genomic and cartography
GoldenPath hg38 (UCSC)CDK5RAP3  -     chr17:47971113-47981781 +  17q21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CDK5RAP3  -     17q21.32   [Description]    (hg19-Feb_2009)
GoldenPathCDK5RAP3 - 17q21.32 [CytoView hg19]  CDK5RAP3 - 17q21.32 [CytoView hg38]
ImmunoBaseENSG00000108465
genome Data Viewer NCBICDK5RAP3 [Mapview hg19]  
OMIM608202   
Gene and transcription
Genbank (Entrez)AA427702 AB062433 AF110322 AF217982 AF343090
RefSeq transcript (Entrez)NM_001278197 NM_001278198 NM_001278216 NM_001278217 NM_025197 NM_176095 NM_176096
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CDK5RAP3
Alternative Splicing GalleryENSG00000108465
Gene ExpressionCDK5RAP3 [ NCBI-GEO ]   CDK5RAP3 [ EBI - ARRAY_EXPRESS ]   CDK5RAP3 [ SEEK ]   CDK5RAP3 [ MEM ]
Gene Expression Viewer (FireBrowse)CDK5RAP3 [ Firebrowse - Broad ]
GenevisibleExpression of CDK5RAP3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80279
GTEX Portal (Tissue expression)CDK5RAP3
Human Protein AtlasENSG00000108465-CDK5RAP3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96JB5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96JB5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96JB5
Splice isoforms : SwissVarQ96JB5
PhosPhoSitePlusQ96JB5
Domains : Interpro (EBI)CDK5RAP3   
Domain families : Pfam (Sanger)DUF773 (PF05600)   
Domain families : Pfam (NCBI)pfam05600   
Conserved Domain (NCBI)CDK5RAP3
Blocks (Seattle)CDK5RAP3
SuperfamilyQ96JB5
Human Protein Atlas [tissue]ENSG00000108465-CDK5RAP3 [tissue]
Peptide AtlasQ96JB5
HPRD12190
IPIIPI00414442   IPI00018780   IPI00187145   
Protein Interaction databases
DIP (DOE-UCLA)Q96JB5
IntAct (EBI)Q96JB5
BioGRIDCDK5RAP3
STRING (EMBL)CDK5RAP3
ZODIACCDK5RAP3
Ontologies - Pathways
QuickGOQ96JB5
Ontology : AmiGOregulation of cyclin-dependent protein serine/threonine kinase activity  regulation of cyclin-dependent protein serine/threonine kinase activity  liver development  negative regulation of protein phosphorylation  protein binding  nucleus  nucleolus  nucleolus  cytoplasm  centrosome  cytosol  microtubule  mitotic G2 DNA damage checkpoint  regulation of mitotic cell cycle  brain development  cell population proliferation  regulation of phosphatase activity  membrane  viral process  protein kinase binding  protein kinase binding  apoptotic nuclear changes  cyclin binding  endoplasmic reticulum unfolded protein response  positive regulation of protein ubiquitination  negative regulation of NF-kappaB transcription factor activity  protein-containing complex  response to endoplasmic reticulum stress  intracellular membrane-bounded organelle  negative regulation of MAP kinase activity  negative regulation of protein kinase activity by regulation of protein phosphorylation  ubiquitin-like protein ligase binding  mitotic G2/M transition checkpoint  regulation of neuron differentiation  positive regulation of transcription by RNA polymerase II  mitogen-activated protein kinase binding  NF-kappaB binding  definitive erythrocyte differentiation  protein ufmylation  protein ufmylation  negative regulation of protein serine/threonine kinase activity  MDM2/MDM4 family protein binding  positive regulation of protein localization to nucleus  positive regulation of signal transduction by p53 class mediator  negative regulation of cellular protein catabolic process  positive regulation of ubiquitin-dependent protein catabolic process  
Ontology : EGO-EBIregulation of cyclin-dependent protein serine/threonine kinase activity  regulation of cyclin-dependent protein serine/threonine kinase activity  liver development  negative regulation of protein phosphorylation  protein binding  nucleus  nucleolus  nucleolus  cytoplasm  centrosome  cytosol  microtubule  mitotic G2 DNA damage checkpoint  regulation of mitotic cell cycle  brain development  cell population proliferation  regulation of phosphatase activity  membrane  viral process  protein kinase binding  protein kinase binding  apoptotic nuclear changes  cyclin binding  endoplasmic reticulum unfolded protein response  positive regulation of protein ubiquitination  negative regulation of NF-kappaB transcription factor activity  protein-containing complex  response to endoplasmic reticulum stress  intracellular membrane-bounded organelle  negative regulation of MAP kinase activity  negative regulation of protein kinase activity by regulation of protein phosphorylation  ubiquitin-like protein ligase binding  mitotic G2/M transition checkpoint  regulation of neuron differentiation  positive regulation of transcription by RNA polymerase II  mitogen-activated protein kinase binding  NF-kappaB binding  definitive erythrocyte differentiation  protein ufmylation  protein ufmylation  negative regulation of protein serine/threonine kinase activity  MDM2/MDM4 family protein binding  positive regulation of protein localization to nucleus  positive regulation of signal transduction by p53 class mediator  negative regulation of cellular protein catabolic process  positive regulation of ubiquitin-dependent protein catabolic process  
NDEx NetworkCDK5RAP3
Atlas of Cancer Signalling NetworkCDK5RAP3
Wikipedia pathwaysCDK5RAP3
Orthology - Evolution
OrthoDB80279
GeneTree (enSembl)ENSG00000108465
Phylogenetic Trees/Animal Genes : TreeFamCDK5RAP3
HOGENOMQ96JB5
Homologs : HomoloGeneCDK5RAP3
Homology/Alignments : Family Browser (UCSC)CDK5RAP3
Gene fusions - Rearrangements
Fusion : MitelmanCDK5RAP3/RNF43 [17q21.32/17q22]  
Fusion : MitelmanNF1/CDK5RAP3 [17q11.2/17q21.32]  
Fusion PortalCDK5RAP3 17q21.32 RNF43 17q22 BRCA
Fusion PortalNF1 17q11.2 CDK5RAP3 17q21.32 BRCA
Fusion : QuiverCDK5RAP3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCDK5RAP3 [hg38]
dbVarCDK5RAP3
ClinVarCDK5RAP3
MonarchCDK5RAP3
1000_GenomesCDK5RAP3 
Exome Variant ServerCDK5RAP3
GNOMAD BrowserENSG00000108465
Varsome BrowserCDK5RAP3
Genomic Variants (DGV)CDK5RAP3 [DGVbeta]
DECIPHERCDK5RAP3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCDK5RAP3 
Mutations
ICGC Data PortalCDK5RAP3 
TCGA Data PortalCDK5RAP3 
Broad Tumor PortalCDK5RAP3
OASIS PortalCDK5RAP3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCDK5RAP3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCDK5RAP3
Mutations and Diseases : HGMDCDK5RAP3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CDK5RAP3
DgiDB (Drug Gene Interaction Database)CDK5RAP3
DoCM (Curated mutations)CDK5RAP3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CDK5RAP3 (select a term)
intoGenCDK5RAP3
Cancer3DCDK5RAP3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608202   
Orphanet
DisGeNETCDK5RAP3
MedgenCDK5RAP3
Genetic Testing Registry CDK5RAP3
NextProtQ96JB5 [Medical]
GENETestsCDK5RAP3
Target ValidationCDK5RAP3
Huge Navigator CDK5RAP3 [HugePedia]
ClinGenCDK5RAP3
Clinical trials, drugs, therapy
MyCancerGenomeCDK5RAP3
Protein Interactions : CTD
Pharm GKB GenePA38633
PharosQ96JB5
Clinical trialCDK5RAP3
Miscellaneous
canSAR (ICR)CDK5RAP3 (select the gene name)
HarmonizomeCDK5RAP3
DataMed IndexCDK5RAP3
Probes
Litterature
PubMed84 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCDK5RAP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 25 19:14:57 CET 2021
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