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CDK5RAP1 (CDK5 regulatory subunit associated protein 1)

Identity

Alias_namesC20orf34
chromosome 20 open reading frame 34
Alias_symbol (synonym)CGI-05
HSPC167
C42
Other alias
HGNC (Hugo) CDK5RAP1
LocusID (NCBI) 51654
Atlas_Id 46788
Location 20q11.21  [Link to chromosome band 20q11]
Location_base_pair Starts at 31946645 and ends at 31989375 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CDK5RAP1 (20q11.21) / ZCCHC6 (9q21.33)MIER2 (19p13.3) / CDK5RAP1 (20q11.21)PPP2R2C (4p16.1) / CDK5RAP1 (20q11.21)
MIER2 19p13.3 / CDK5RAP1 20q11.21

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

 


External links

Nomenclature
HGNC (Hugo)CDK5RAP1   15880
Cards
Entrez_Gene (NCBI)CDK5RAP1  51654  CDK5 regulatory subunit associated protein 1
AliasesC20orf34; C42; CGI-05; HSPC167
GeneCards (Weizmann)CDK5RAP1
Ensembl hg19 (Hinxton)ENSG00000101391 [Gene_View]  chr20:31946645-31989375 [Contig_View]  CDK5RAP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000101391 [Gene_View]  chr20:31946645-31989375 [Contig_View]  CDK5RAP1 [Vega]
ICGC DataPortalENSG00000101391
TCGA cBioPortalCDK5RAP1
AceView (NCBI)CDK5RAP1
Genatlas (Paris)CDK5RAP1
WikiGenes51654
SOURCE (Princeton)CDK5RAP1
Genetics Home Reference (NIH)CDK5RAP1
Genomic and cartography
GoldenPath hg19 (UCSC)CDK5RAP1  -     chr20:31946645-31989375 -  20q11.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CDK5RAP1  -     20q11.21   [Description]    (hg38-Dec_2013)
EnsemblCDK5RAP1 - 20q11.21 [CytoView hg19]  CDK5RAP1 - 20q11.21 [CytoView hg38]
Mapping of homologs : NCBICDK5RAP1 [Mapview hg19]  CDK5RAP1 [Mapview hg38]
OMIM608200   
Gene and transcription
Genbank (Entrez)AA721451 AF152097 AF161516 AK023992 AK027449
RefSeq transcript (Entrez)NM_001278167 NM_001278168 NM_001278169 NM_016082 NM_016408
RefSeq genomic (Entrez)NC_000020 NC_018931 NT_011362 NW_004929418
Consensus coding sequences : CCDS (NCBI)CDK5RAP1
Cluster EST : UnigeneHs.435952 [ NCBI ]
CGAP (NCI)Hs.435952
Alternative Splicing GalleryENSG00000101391
Gene ExpressionCDK5RAP1 [ NCBI-GEO ]   CDK5RAP1 [ EBI - ARRAY_EXPRESS ]   CDK5RAP1 [ SEEK ]   CDK5RAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)CDK5RAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51654
GTEX Portal (Tissue expression)CDK5RAP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96SZ6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96SZ6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96SZ6
Splice isoforms : SwissVarQ96SZ6
PhosPhoSitePlusQ96SZ6
Domaine pattern : Prosite (Expaxy)MTTASE_N (PS51449)    MTTASE_RADICAL (PS01278)    TRAM (PS50926)   
Domains : Interpro (EBI)Elp3/MiaB/NifB    MeThioTfrase/rSAM    Methylthiotransferase    Methylthiotransferase_CS    Methylthiotransferase_N    MiaB_methiolase    rSAM    rSAM_horseshoe    TRAM_dom   
Domain families : Pfam (Sanger)Radical_SAM (PF04055)    TRAM (PF01938)    UPF0004 (PF00919)   
Domain families : Pfam (NCBI)pfam04055    pfam01938    pfam00919   
Domain families : Smart (EMBL)Elp3 (SM00729)  
Conserved Domain (NCBI)CDK5RAP1
DMDM Disease mutations51654
Blocks (Seattle)CDK5RAP1
SuperfamilyQ96SZ6
Human Protein AtlasENSG00000101391
Peptide AtlasQ96SZ6
HPRD12189
IPIIPI00328276   IPI00328277   IPI00328278   IPI00306312   IPI00514343   IPI01014266   
Protein Interaction databases
DIP (DOE-UCLA)Q96SZ6
IntAct (EBI)Q96SZ6
FunCoupENSG00000101391
BioGRIDCDK5RAP1
STRING (EMBL)CDK5RAP1
ZODIACCDK5RAP1
Ontologies - Pathways
QuickGOQ96SZ6
Ontology : AmiGOcellular_component  cytoplasm  brain development  protein kinase regulator activity  protein kinase binding  protein complex binding  methylthiotransferase activity  tRNA methylthiolation  regulation of neuron differentiation  negative regulation of cyclin-dependent protein serine/threonine kinase activity  metal ion binding  4 iron, 4 sulfur cluster binding  
Ontology : EGO-EBIcellular_component  cytoplasm  brain development  protein kinase regulator activity  protein kinase binding  protein complex binding  methylthiotransferase activity  tRNA methylthiolation  regulation of neuron differentiation  negative regulation of cyclin-dependent protein serine/threonine kinase activity  metal ion binding  4 iron, 4 sulfur cluster binding  
NDEx NetworkCDK5RAP1
Atlas of Cancer Signalling NetworkCDK5RAP1
Wikipedia pathwaysCDK5RAP1
Orthology - Evolution
OrthoDB51654
GeneTree (enSembl)ENSG00000101391
Phylogenetic Trees/Animal Genes : TreeFamCDK5RAP1
HOVERGENQ96SZ6
HOGENOMQ96SZ6
Homologs : HomoloGeneCDK5RAP1
Homology/Alignments : Family Browser (UCSC)CDK5RAP1
Gene fusions - Rearrangements
Fusion : MitelmanMIER2/CDK5RAP1 [19p13.3/20q11.21]  [t(19;20)(p13;q11)]  
Fusion: TCGAMIER2 19p13.3 CDK5RAP1 20q11.21 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCDK5RAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CDK5RAP1
dbVarCDK5RAP1
ClinVarCDK5RAP1
1000_GenomesCDK5RAP1 
Exome Variant ServerCDK5RAP1
ExAC (Exome Aggregation Consortium)CDK5RAP1 (select the gene name)
Genetic variants : HAPMAP51654
Genomic Variants (DGV)CDK5RAP1 [DGVbeta]
DECIPHER (Syndromes)20:31946645-31989375  ENSG00000101391
CONAN: Copy Number AnalysisCDK5RAP1 
Mutations
ICGC Data PortalCDK5RAP1 
TCGA Data PortalCDK5RAP1 
Broad Tumor PortalCDK5RAP1
OASIS PortalCDK5RAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCDK5RAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCDK5RAP1
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 CDK5RAP1
DgiDB (Drug Gene Interaction Database)CDK5RAP1
DoCM (Curated mutations)CDK5RAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CDK5RAP1 (select a term)
intoGenCDK5RAP1
Cancer3DCDK5RAP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608200   
Orphanet
MedgenCDK5RAP1
Genetic Testing Registry CDK5RAP1
NextProtQ96SZ6 [Medical]
TSGene51654
GENETestsCDK5RAP1
Huge Navigator CDK5RAP1 [HugePedia]
snp3D : Map Gene to Disease51654
BioCentury BCIQCDK5RAP1
ClinGenCDK5RAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51654
Chemical/Pharm GKB GenePA26313
Clinical trialCDK5RAP1
Miscellaneous
canSAR (ICR)CDK5RAP1 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCDK5RAP1
EVEXCDK5RAP1
GoPubMedCDK5RAP1
iHOPCDK5RAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:55:59 CEST 2017

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