Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

WRAP53 (WD repeat containing, antisense to TP53)

Written2010-11Marianne Farnebo
Karolinska Institutet, Cancer Center Karolinska (CCK) R8 :04, 17176 Stockholm, Sweden

(Note : for Links provided by Atlas : click)


Other namesDKCB3
HGNC (Hugo) WRAP53
LocusID (NCBI) 55135
Atlas_Id 50705
Location 17p13.1
Location_base_pair Starts at 7589389 and ends at 7606820 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Fusion genes
(updated 2015)
NXN (17p13.3) / WRAP53 (17p13.1)POLR2A (17p13.1) / WRAP53 (17p13.1)TMEM107 (17p13.1) / WRAP53 (17p13.1)


Description The WRAP53 gene encompasses 16 kb of DNA; 13 exons (three non-coding alternative start exons: exon 1alpha, 1beta and 1gamma. Exon 1alpha directly overlaps the first exon of TP53 in an antisense fashion by up to 227 base pairs (bp), depending on transcription start site (TSS) usage. Exon 1gamma of WRAP53 is located in the first intron of TP53 overlapping the previously identified transcript Hp53int1 in an antisense fashion.
Transcription At least 17 splice variants. 1.9 kb mRNA; 1647 bp open reading frame.

Regulatory antisense RNA
Expression: widely expressed at low levels.
Localisation: cytoplasm and nucleus.
Function: regulates p53 mRNA levels by interacting with the 5'UTR of p53 mRNA.
Homology: conserved in mouse.
Diseases implication currently not analysed.

Pseudogene Not known.


Description 548 amino acids; 75 kDa protein; contains from N-term to C-term, a proline-rich region (aa 8-57), a WD40 domain, 5 repeats (160-441), and a glycin-rich region (533-545).
Expression Widely expressed, overexpressed in cancer.
Localisation Cytoplasm and nucleus (enriched in Cajal bodies).
Function Essential for Cajal body formation and maintenance. Targets the SMN complex, scaRNAs and telomerase enzyme (via TERC) to Cajal bodies. Inhibition of WRAP53 triggers mitochondrial-dependent apoptosis specifically in cancer cells.
Homology Highly-conserved in mammals, the WD40 domain is conserved from human to fly.


Note Single nucleotide polymorphisms (SNPs) in women with breast cancer (see below).
Germinal Not reported.
Somatic Not reported.

Implicated in

Entity Breast and ovarian cancer
Note Single nucleotide polymorphisms (SNPs) in WRAP53 were found to be overrepresented in women with breast cancer, in particular estrogen receptor negative breast cancer. The same SNPs were also associated with aggressive ovarian cancer. The SNPs are located in the coding region of WRAP53 and results in the amino acid change R68G.
Entity Spinal muscular atrophy (SMA)
Note WRAP53 targets the SMN complex to Cajal Bodies. WRAP53 and SMN association is disrupted in SMA patients suggesting a role of WRAP53 in SMA pathogenesis.
Disease Spinal muscular atrophy (SMA) is a common neurodegenerative disorder caused by reduced levels of SMN due to mutations or deletions of the SMN1 gene. SMA is the leading genetic cause of infant mortality worldwide, affecting approximately 1 in 6000 infants.


Common genetic variation in TP53 and its flanking genes, WDR79 and ATP1B2, and susceptibility to breast cancer.
Garcia-Closas M, Kristensen V, Langerod A, Qi Y, Yeager M, Burdett L, Welch R, Lissowska J, Peplonska B, Brinton L, Gerhard DS, Gram IT, Perou CM, Borresen-Dale AL, Chanock S.
Int J Cancer. 2007 Dec 1;121(11):2532-8.
PMID 17683073
Wrap53, a natural p53 antisense transcript required for p53 induction upon DNA damage.
Mahmoudi S, Henriksson S, Corcoran M, Mendez-Vidal C, Wiman KG, Farnebo M.
Mol Cell. 2009 Feb 27;33(4):462-71.
PMID 19250907
Single nucleotide polymorphisms in the TP53 region and susceptibility to invasive epithelial ovarian cancer.
Schildkraut JM, Goode EL, Clyde MA, Iversen ES, Moorman PG, Berchuck A, Marks JR, Lissowska J, Brinton L, Peplonska B, Cunningham JM, Vierkant RA, Rider DN, Chenevix-Trench G, Webb PM, Beesley J, Chen X, Phelan C, Sutphen R, Sellers TA, Pearce L, Wu AH, Van Den Berg D, Conti D, Elund CK, Anderson R, Goodman MT, Lurie G, Carney ME, Thompson PJ, Gayther SA, Ramus SJ, Jacobs I, Kruger Kjaer S, Hogdall E, Blaakaer J, Hogdall C, Easton DF, Song H, Pharoah PD, Whittemore AS, McGuire V, Quaye L, Anton-Culver H, Ziogas A, Terry KL, Cramer DW, Hankinson SE, Tworoger SS, Calingaert B, Chanock S, Sherman M, Garcia-Closas M; Australian Ovarian Cancer Study Group.
Cancer Res. 2009 Mar 15;69(6):2349-57. Epub 2009 Mar 10.
PMID 19276375
A conserved WD40 protein binds the Cajal body localization signal of scaRNP particles.
Tycowski KT, Shu MD, Kukoyi A, Steitz JA.
Mol Cell. 2009 Apr 10;34(1):47-57. Epub 2009 Mar 12.
PMID 19285445
A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis.
Venteicher AS, Abreu EB, Meng Z, McCann KE, Terns RM, Veenstra TD, Terns MP, Artandi SE.
Science. 2009 Jan 30;323(5914):644-8.
PMID 19179534
WRAP53 is essential for Cajal body formation and for targeting the survival of motor neuron complex to Cajal bodies.
Mahmoudi S, Henriksson S, Weibrecht I, Smith S, Soderberg O, Stromblad S, Wiman KG, Farnebo M.
PLoS Biol. 2010 Nov 2;8(11):e1000521.
PMID 21072240
WRAP53 promotes cancer cell survival and is a potential target for cancer therapy.
Mahmoudi S, Henriksson S, Farnebo L, Roberg K, Farnebo M.
Cell Death Dis. 2011;2:e114;doi:10.1038/cddis.2010.90.


This paper should be referenced as such :
Farnebo, M
WRAP53 (WD repeat containing, antisense to TP53)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(7):596-597.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other Cancer prone implicated (Data extracted from papers in the Atlas)
  Dyskeratosis congenita (DKC)

External links

HGNC (Hugo)WRAP53   25522
Entrez_Gene (NCBI)WRAP53  55135  WD repeat containing, antisense to TP53
GeneCards (Weizmann)WRAP53
Ensembl hg19 (Hinxton)ENSG00000141499 [Gene_View]  chr17:7589389-7606820 [Contig_View]  WRAP53 [Vega]
Ensembl hg38 (Hinxton)ENSG00000141499 [Gene_View]  chr17:7589389-7606820 [Contig_View]  WRAP53 [Vega]
ICGC DataPortalENSG00000141499
TCGA cBioPortalWRAP53
AceView (NCBI)WRAP53
Genatlas (Paris)WRAP53
SOURCE (Princeton)WRAP53
Genomic and cartography
GoldenPath hg19 (UCSC)WRAP53  -     chr17:7589389-7606820 +  17p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)WRAP53  -     17p13.1   [Description]    (hg38-Dec_2013)
EnsemblWRAP53 - 17p13.1 [CytoView hg19]  WRAP53 - 17p13.1 [CytoView hg38]
Mapping of homologs : NCBIWRAP53 [Mapview hg19]  WRAP53 [Mapview hg38]
OMIM612661   613988   
Gene and transcription
Genbank (Entrez)AK001247 AK056669 AK092370 AK225273 AK225411
RefSeq transcript (Entrez)NM_001143990 NM_001143991 NM_001143992 NM_018081
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_028245 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)WRAP53
Cluster EST : UnigeneHs.408312 [ NCBI ]
CGAP (NCI)Hs.408312
Alternative Splicing : Fast-db (Paris)GSHG0012202
Alternative Splicing GalleryENSG00000141499
Gene ExpressionWRAP53 [ NCBI-GEO ]     WRAP53 [ SEEK ]   WRAP53 [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)55135
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BUR4 (Uniprot)
NextProtQ9BUR4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BUR4
Splice isoforms : SwissVarQ9BUR4 (Swissvar)
Domaine pattern : Prosite (Expaxy)WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_dom   
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
DMDM Disease mutations55135
Blocks (Seattle)WRAP53
Human Protein AtlasENSG00000141499
Peptide AtlasQ9BUR4
IPIIPI00306087   IPI00909820   IPI00887755   IPI00982224   IPI00984156   
Protein Interaction databases
IntAct (EBI)Q9BUR4
Ontologies - Pathways
Ontology : AmiGORNA binding  protein binding  nucleus  telomerase holoenzyme complex  cytoplasm  Cajal body  telomere formation via telomerase  positive regulation of telomere maintenance via telomerase  positive regulation of telomere maintenance via telomerase  positive regulation of telomerase activity  positive regulation of telomerase activity  telomerase RNA binding  
Ontology : EGO-EBIRNA binding  protein binding  nucleus  telomerase holoenzyme complex  cytoplasm  Cajal body  telomere formation via telomerase  positive regulation of telomere maintenance via telomerase  positive regulation of telomere maintenance via telomerase  positive regulation of telomerase activity  positive regulation of telomerase activity  telomerase RNA binding  
REACTOMEQ9BUR4 [protein]
REACTOME PathwaysR-HSA-171319 Telomere Extension By Telomerase [pathway]
Protein Interaction DatabaseWRAP53
Atlas of Cancer Signalling NetworkWRAP53
Wikipedia pathwaysWRAP53
Orthology - Evolution
GeneTree (enSembl)ENSG00000141499
Phylogenetic Trees/Animal Genes : TreeFamWRAP53
Gene fusions - Rearrangements
Fusion : MitelmanNXN/WRAP53 [17p13.3/17p13.1]  [t(17;17)(p13;p13)]  
Fusion : MitelmanPOLR2A/WRAP53 [17p13.1/17p13.1]  [t(17;17)(p13;p13)]  
Fusion : MitelmanTMEM107/WRAP53 [17p13.1/17p13.1]  [t(17;17)(p13;p13)]  
Fusion: TCGANXN 17p13.3 WRAP53 17p13.1 HNSC
Fusion: TCGATMEM107 17p13.1 WRAP53 17p13.1 LUAD
Polymorphisms : SNP, variants
NCBI Variation ViewerWRAP53 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)WRAP53
Exome Variant ServerWRAP53
SNP (GeneSNP Utah)WRAP53
Genetic variants : HAPMAPWRAP53
Genomic Variants (DGV)WRAP53 [DGVbeta]
ICGC Data PortalWRAP53 
TCGA Data PortalWRAP53 
Broad Tumor PortalWRAP53
OASIS PortalWRAP53 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICWRAP53 
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
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch WRAP53
DgiDB (Drug Gene Interaction Database)WRAP53
DoCM (Curated mutations)WRAP53 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)WRAP53 (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)17:7589389-7606820
CONAN: Copy Number AnalysisWRAP53 
Mutations and Diseases : HGMDWRAP53
OMIM612661    613988   
NextProtQ9BUR4 [Medical]
Huge Navigator WRAP53 [HugePedia]  WRAP53 [HugeCancerGEM]
snp3D : Map Gene to Disease55135
BioCentury BCIQWRAP53
General knowledge
Homologs : HomoloGeneWRAP53
Homology/Alignments : Family Browser (UCSC)WRAP53
Chemical/Protein Interactions : CTD55135
Chemical/Pharm GKB GenePA164727568
Clinical trialWRAP53
Other databases
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Feb 11 09:46:45 CET 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us