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Aliases for WRAP53 Gene

Aliases for WRAP53 Gene

  • WD Repeat Containing Antisense To TP53 2 3 5
  • WD Repeat-Containing Protein WRAP53 3 4
  • Telomerase Cajal Body Protein 1 2 3
  • WD Repeat-Containing Protein 79 3 4
  • WDR79 3 4
  • TCAB1 3 4
  • WD40 Repeat-Containing Protein Encoding RNA Antisense To P53 3
  • WD40 Repeat-Containing Protein Antisense To TP53 Gene 4
  • WD40 Repeat-Containing Protein Antisense To TP53 3
  • WD Repeat Containing, Antisense To TP53 2
  • WD-Encoding RNA Antisense To P53 2
  • WD Repeat Domain 79 2
  • WD40 Protein Wrap53 3
  • DKCB3 3

External Ids for WRAP53 Gene

Previous HGNC Symbols for WRAP53 Gene

  • WDR79

Previous GeneCards Identifiers for WRAP53 Gene

  • GC17P007534
  • GC17P007589
  • GC17P007483

Summaries for WRAP53 Gene

Entrez Gene Summary for WRAP53 Gene

  • This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase function. It interacts with dyskerin, TERT and TERC, other components of active telomerase, and with small Cajal body RNAs (scaRNAs), which are involved in modifying splicing RNAs. This mRNA also functions as a p53 antisense transcript, that regulates endogenous p53 mRNA levels and further induction of p53 protein by targeting the 5' untranslated region of p53 mRNA. Alternatively spliced transcript variants which differ only in the 5' UTR have been found for this gene. [provided by RefSeq, Mar 2011]

GeneCards Summary for WRAP53 Gene

WRAP53 (WD Repeat Containing Antisense To TP53) is a Protein Coding gene. Diseases associated with WRAP53 include Dyskeratosis Congenita, Autosomal Recessive 3 and Dyskeratosis Congenita. Among its related pathways are Chromosome Maintenance and Chaperonin-mediated protein folding. GO annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot for WRAP53 Gene

  • Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes. In the telomerase holoenzyme complex, it controls telomerase localization to Cajal body. Required for delivery of TERC to telomeres during S phase and for telomerase activity. Binds small Cajal body RNAs (scaRNAs). The mRNA encoding this protein plays a critical role in the regulation of p53 expression at the post-transcriptional level; it is involved both in maintaining basal p53 mRNA levels and in p53 induction upon DNA damage.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WRAP53 Gene

Genomics for WRAP53 Gene

Regulatory Elements for WRAP53 Gene

Enhancers for WRAP53 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
GH17F007833 1.7 FANTOM5 ENCODE 12.1 +153.7 153659 12.5 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 DVL2 PFAS CTC1 SNORD10 LOC105371523 SNORA48 MIR6883 KCTD11 KDM6B CNTROB
GH17F007474 1.6 FANTOM5 ENCODE 10.4 -205.5 -205482 12.5 CREB3L1 ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 DVL2 SNORD10 SNORA48 CHRNB1 PFAS LOC105371523 KCTD11 CTC1 CNTROB MIR6883
GH17F007644 0.6 FANTOM5 25 -41.1 -41123 0.2 STAT1 ZNF366 ETV6 SPI1 WRAP53 ATP1B2 SAT2 CD68 GABARAP POLR2A GC17P007639
GH17F007747 1.2 Ensembl ENCODE 11.1 +62.0 61951 1.8 PKNOX1 NFRKB ZBTB40 ZNF121 ZNF335 GLIS2 ZNF366 RCOR1 EGR2 SP3 DVL2 DNAH2 EFNB3 WRAP53 PFAS ALOX15B CYB5D1 TMEM88 NAA38 RPL29P2
GH17F007625 1.1 ENCODE 11.7 -57.8 -57848 5.8 PKNOX1 SIN3A ARID4B DMAP1 ZNF48 YY1 GLIS2 ZNF416 SP3 NFYC SAT2 CHRNB1 DVL2 TP53 WRAP53 EFNB3 SENP3 DNAH2 CNTROB KCNAB3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WRAP53 on UCSC Golden Path with GeneCards custom track

Promoters for WRAP53 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001340277 1129 4001 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for WRAP53 Gene

Chromosome:
17
Start:
7,686,071 bp from pter
End:
7,703,502 bp from pter
Size:
17,432 bases
Orientation:
Plus strand

Genomic View for WRAP53 Gene

Genes around WRAP53 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WRAP53 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WRAP53 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WRAP53 Gene

Proteins for WRAP53 Gene

  • Protein details for WRAP53 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUR4-WAP53_HUMAN
    Recommended name:
    Telomerase Cajal body protein 1
    Protein Accession:
    Q9BUR4
    Secondary Accessions:
    • B3KPR9
    • D3DTQ4
    • Q08ET9
    • Q9NW09

    Protein attributes for WRAP53 Gene

    Size:
    548 amino acids
    Molecular mass:
    59309 Da
    Quaternary structure:
    • Component of the telomerase holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC).

neXtProt entry for WRAP53 Gene

Post-translational modifications for WRAP53 Gene

  • Ubiquitination at Lys 173 and Lys 176
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for WRAP53 Gene

Domains & Families for WRAP53 Gene

Gene Families for WRAP53 Gene

Protein Domains for WRAP53 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BUR4

UniProtKB/Swiss-Prot:

WAP53_HUMAN :
  • Contains 6 WD repeats.
Similarity:
  • Contains 6 WD repeats.
genes like me logo Genes that share domains with WRAP53: view

Function for WRAP53 Gene

Molecular function for WRAP53 Gene

UniProtKB/Swiss-Prot Function:
Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes. In the telomerase holoenzyme complex, it controls telomerase localization to Cajal body. Required for delivery of TERC to telomeres during S phase and for telomerase activity. Binds small Cajal body RNAs (scaRNAs). The mRNA encoding this protein plays a critical role in the regulation of p53 expression at the post-transcriptional level; it is involved both in maintaining basal p53 mRNA levels and in p53 induction upon DNA damage.

Gene Ontology (GO) - Molecular Function for WRAP53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 19179534
GO:0005515 protein binding IPI 19179534
GO:0032403 protein complex binding IDA 25467444
GO:0051087 chaperone binding IPI 25467444
GO:0070034 telomerase RNA binding IPI 20351177
genes like me logo Genes that share ontologies with WRAP53: view
genes like me logo Genes that share phenotypes with WRAP53: view

Human Phenotype Ontology for WRAP53 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for WRAP53 Gene

MGI Knock Outs for WRAP53:

Animal Model Products

miRNA for WRAP53 Gene

miRTarBase miRNAs that target WRAP53

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for WRAP53 Gene

Localization for WRAP53 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WRAP53 Gene

Nucleus, Cajal body. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WRAP53 gene
Compartment Confidence
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for WRAP53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005697 telomerase holoenzyme complex IDA 19179534
GO:0005737 cytoplasm IDA --
GO:0015030 Cajal body IEA,IDA 19179534
genes like me logo Genes that share ontologies with WRAP53: view

Pathways & Interactions for WRAP53 Gene

genes like me logo Genes that share pathways with WRAP53: view

Gene Ontology (GO) - Biological Process for WRAP53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007004 telomere maintenance via telomerase TAS 25467444
GO:0032203 telomere formation via telomerase IMP 19179534
GO:0032212 positive regulation of telomere maintenance via telomerase IMP 23685356
GO:0051973 positive regulation of telomerase activity IMP 23685356
GO:0070200 establishment of protein localization to telomere IMP 25467444
genes like me logo Genes that share ontologies with WRAP53: view

No data available for SIGNOR curated interactions for WRAP53 Gene

Transcripts for WRAP53 Gene

Unigene Clusters for WRAP53 Gene

WD repeat containing, antisense to TP53:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for WRAP53 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: -
SP3: -

Relevant External Links for WRAP53 Gene

GeneLoc Exon Structure for
WRAP53
ECgene alternative splicing isoforms for
WRAP53

Expression for WRAP53 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WRAP53 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for WRAP53 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.0), Testis (13.7), Placenta (11.4), Fetal testis (9.2), and Pancreas (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for WRAP53 Gene



Protein tissue co-expression partners for WRAP53 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WRAP53 Gene:

WRAP53

SOURCE GeneReport for Unigene cluster for WRAP53 Gene:

Hs.408312

mRNA Expression by UniProt/SwissProt for WRAP53 Gene:

Q9BUR4-WAP53_HUMAN
Tissue specificity: Expressed in all tissues and cell lines examined.
genes like me logo Genes that share expression patterns with WRAP53: view

Primer Products

No data available for mRNA differential expression in normal tissues for WRAP53 Gene

Orthologs for WRAP53 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for WRAP53 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WRAP53 34 35
  • 99.45 (n)
cow
(Bos Taurus)
Mammalia WRAP53 34 35
  • 87.94 (n)
dog
(Canis familiaris)
Mammalia WRAP53 34 35
  • 84.72 (n)
rat
(Rattus norvegicus)
Mammalia Wrap53 34
  • 82.98 (n)
mouse
(Mus musculus)
Mammalia Wrap53 34 16 35
  • 82.53 (n)
oppossum
(Monodelphis domestica)
Mammalia WRAP53 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WRAP53 35
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WRAP53 35
  • 61 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32703 34
zebrafish
(Danio rerio)
Actinopterygii wrap53 34 35
  • 60.5 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10050 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001885 34
  • 50.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta WDR79 34 35
  • 49.92 (n)
worm
(Caenorhabditis elegans)
Secernentea Y105E8A.8 35
  • 22 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G21520 34
  • 52.19 (n)
rice
(Oryza sativa)
Liliopsida Os03g0738000 34
  • 51.01 (n)
Species where no ortholog for WRAP53 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for WRAP53 Gene

ENSEMBL:
Gene Tree for WRAP53 (if available)
TreeFam:
Gene Tree for WRAP53 (if available)

Paralogs for WRAP53 Gene

(1) SIMAP similar genes for WRAP53 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with WRAP53: view

No data available for Paralogs for WRAP53 Gene

Variants for WRAP53 Gene

Sequence variations from dbSNP and Humsavar for WRAP53 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs281865547 Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988], Pathogenic 7,689,284(+) GAGTT(A/C)AGCAC nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs281865548 Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988], Pathogenic 7,702,770(+) ATCTC(C/T)GGCAG nc-transcript-variant, reference, missense
rs281865549 Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988], Pathogenic 7,702,514(+) GCTTT(C/T)ATCCC nc-transcript-variant, reference, missense
rs281865550 Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988], Pathogenic 7,703,027(+) CGAGC(A/G)GGGCT nc-transcript-variant, reference, missense
rs34067256 Likely benign 7,689,055(+) GGAAC(C/G)CGCTG nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for WRAP53 Gene

Variant ID Type Subtype PubMed ID
nsv457659 CNV loss 19166990
nsv574322 CNV loss 21841781
nsv952119 CNV deletion 24416366

Variation tolerance for WRAP53 Gene

Residual Variation Intolerance Score: 57.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.64; 82.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WRAP53 Gene

Human Gene Mutation Database (HGMD)
WRAP53
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WRAP53

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WRAP53 Gene

Disorders for WRAP53 Gene

MalaCards: The human disease database

(4) MalaCards diseases for WRAP53 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dyskeratosis congenita, autosomal recessive 3
  • dyskeratosis congenita, autosomal recessive, 3
dyskeratosis congenita
  • zinsser-cole-engman syndrome
wrap53-related dyskeratosis congenita
dyskeratosis congenita autosomal recessive
  • autosomal recessive dyskeratosis congenita
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

WAP53_HUMAN
  • Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988]: A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269 PubMed:21205863}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for WRAP53

Genetic Association Database (GAD)
WRAP53
Human Genome Epidemiology (HuGE) Navigator
WRAP53
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WRAP53
genes like me logo Genes that share disorders with WRAP53: view

No data available for Genatlas for WRAP53 Gene

Publications for WRAP53 Gene

  1. A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis. (PMID: 19179534) Venteicher A.S. … Artandi S.E. (Science 2009) 2 3 4 64
  2. Wrap53, a natural p53 antisense transcript required for p53 induction upon DNA damage. (PMID: 19250907) Mahmoudi S. … Farnebo M. (Mol. Cell 2009) 2 3 4 64
  3. Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. (PMID: 21205863) Zhong F. … Artandi S.E. (Genes Dev. 2011) 3 4 64
  4. Anthracyclines induce the accumulation of mutant p53 through E2F1-dependent and -independent mechanisms. (PMID: 21441950) Bug M. … Dobbelstein M. (Oncogene 2011) 2 3 64
  5. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey L.T. … Malats N. (Eur. Urol. 2010) 3 46 64

Products for WRAP53 Gene

Sources for WRAP53 Gene

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