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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
  • GC17P007688
  • GC17P007690

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 Chaperonin-mediated protein folding and Chromosome Maintenance. Gene Ontology (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.

Additional gene information for WRAP53 Gene

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

Genomics for WRAP53 Gene

GeneHancer (GH) Regulatory Elements for WRAP53 Gene

Promoters and enhancers for WRAP53 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I007684 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 593.2 +0.7 714 5.5 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 SP3 WRAP53 ENSG00000262251 GC17P007741 GC17P007745 TP53 CTC1 DVL2 PFAS SNORD10 SNORA48
GH17I007833 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 84.6 +153.7 153658 12.5 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 KDM6B DVL2 PFAS CTC1 WRAP53 CNTROB POLR2A SNORD10 SNORA48 PER1
GH17I008172 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 93.9 +488.9 488896 5.2 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF416 GC17M008511 SNORD118 TMEM107 LOC105371520 DVL2 CTC1 CNTROB POLR2A WRAP53 SNORD10
GH17I008185 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 76.3 +502.3 502263 5.9 CLOCK MLX ZFP64 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC BORCS6 ENSG00000279152 GC17M008515 GC17M008516 PIR38375 PIR38980 PIR40201 TRI-AAT5-5 TRT-AGT1-1 TRW-CCA3-3
GH17I007474 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 65.8 -205.5 -205482 12.5 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC POLR2A ZBTB4 SLC35G6 DVL2 PFAS SNORD10 CTC1 WRAP53 SNORA48 CNTROB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around WRAP53 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WRAP53 gene promoter:

Genomic Locations for WRAP53 Gene

Genomic Locations for WRAP53 Gene
chr17:7,686,071-7,703,502
(GRCh38/hg38)
Size:
17,432 bases
Orientation:
Plus strand
chr17:7,589,389-7,606,820
(GRCh37/hg19)

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 posLast=173173 and isoforms=176

No data available for DME Specific Peptides for WRAP53 Gene

Domains & Families for WRAP53 Gene

Gene Families for WRAP53 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for WRAP53 Gene

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.

Phenotypes From GWAS Catalog for WRAP53 Gene

Gene Ontology (GO) - Molecular Function for WRAP53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IPI 20351177
GO:0005515 protein binding IPI 19179534
GO:0032403 protein complex binding IDA 25467444
GO:0042802 identical protein binding IPI 21072240
GO:0051087 chaperone binding IPI 25467444
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:

miRNA for WRAP53 Gene

miRTarBase miRNAs that target WRAP53

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nuclear bodies (4)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for WRAP53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005697 telomerase holoenzyme complex IDA 19179534
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
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:0051973 positive regulation of telomerase activity IMP 23685356
GO:0070200 establishment of protein localization to telomere IMP 25467444
GO:0090666 scaRNA localization to Cajal body IMP 25467444
genes like me logo Genes that share ontologies with WRAP53: view

No data available for SIGNOR curated interactions for WRAP53 Gene

Drugs & Compounds for WRAP53 Gene

No Compound Related Data Available

Transcripts for WRAP53 Gene

Unigene Clusters for WRAP53 Gene

WD repeat containing, antisense to TP53:
Representative Sequences:

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for WRAP53 Gene

  • Nervous system(4.8)
  • Kidney(4.2)
  • Liver(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WRAP53 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lacrimal apparatus
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • salivary gland
  • scalp
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • rectum
  • testicle
  • urethra
  • urinary bladder
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with WRAP53: view

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 33 34
  • 99.45 (n)
cow
(Bos Taurus)
Mammalia WRAP53 33 34
  • 87.94 (n)
dog
(Canis familiaris)
Mammalia WRAP53 33 34
  • 84.72 (n)
rat
(Rattus norvegicus)
Mammalia Wrap53 33
  • 82.98 (n)
mouse
(Mus musculus)
Mammalia Wrap53 33 16 34
  • 82.53 (n)
oppossum
(Monodelphis domestica)
Mammalia WRAP53 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WRAP53 34
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WRAP53 34
  • 61 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32703 33
zebrafish
(Danio rerio)
Actinopterygii wrap53 33 34
  • 60.5 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10050 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001885 33
  • 50.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta WDR79 33 34
  • 49.92 (n)
worm
(Caenorhabditis elegans)
Secernentea Y105E8A.8 34
  • 22 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G21520 33
  • 52.19 (n)
rice
(Oryza sativa)
Liliopsida Os03g0738000 33
  • 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 Variation AA Info Type
rs1057516027 uncertain-significance, Dyskeratosis Congenita, Recessive 7,688,335(+) T/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, upstream_transcript_variant
rs117192546 uncertain-significance, Dyskeratosis Congenita, Recessive 7,701,647(+) C/T intron_variant
rs138784430 uncertain-significance, Dyskeratosis Congenita, Recessive 7,702,423(+) C/A/G/T coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs145760222 uncertain-significance, Dyskeratosis Congenita, Recessive 7,688,835(+) G/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs147817526 uncertain-significance, Dyskeratosis Congenita, Recessive 7,689,287(+) C/T 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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)

Additional Variant Information 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

(3) MalaCards diseases for WRAP53 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dyskeratosis congenita, autosomal recessive 3
  • dkcb3
dyskeratosis congenita
  • zinsser-cole-engman syndrome
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.

Additional Disease Information for WRAP53

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 AS … Artandi SE (Science (New York, N.Y.) 2009) 2 3 4 58
  2. Wrap53, a natural p53 antisense transcript required for p53 induction upon DNA damage. (PMID: 19250907) Mahmoudi S … Farnebo M (Molecular cell 2009) 2 3 4 58
  3. Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. (PMID: 21205863) Zhong F … Artandi SE (Genes & development 2011) 3 4 58
  4. Anthracyclines induce the accumulation of mutant p53 through E2F1-dependent and -independent mechanisms. (PMID: 21441950) Bug M … Dobbelstein M (Oncogene 2011) 2 3 58
  5. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 44 58

Products for WRAP53 Gene

Sources for WRAP53 Gene