WRAP53 (WD repeat containing antisense to TP53)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55135
Gene name Gene Name - the full gene name approved by the HGNC.
WD repeat containing antisense to TP53
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WRAP53
Synonyms (NCBI Gene) Gene synonyms aliases
DKCB3, TCAB1, WDR79
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.1
Summary Summary of gene provided in NCBI Entrez 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 functio
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs116535684 G>A,T Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs281865548 C>T Pathogenic Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs281865549 C>T Pathogenic Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs281865550 G>A Pathogenic Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs968150359 G>A Risk-factor Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, 3 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
miRTarBase ID miRNA Experiments Reference
MIRT022742 hsa-miR-124-3p Proteomics 18668037
MIRT038551 hsa-miR-106b-3p CLASH 23622248
MIRT037886 hsa-miR-455-3p CLASH 23622248
MIRT734576 hsa-miR-302a-3p qRT-PCR 33123477
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(46)
GO ID Ontology Definition Evidence Reference
GO:0000781 Component Chromosome, telomeric region IEA
GO:0003723 Function RNA binding IBA
GO:0003723 Function RNA binding IDA 19179534
GO:0003723 Function RNA binding IEA
GO:0003723 Function RNA binding IPI 20351177
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612661 25522 ENSG00000141499
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9BUR4
Protein name Telomerase Cajal body protein 1 (WD repeat-containing protein 79) (WD40 repeat-containing protein antisense to TP53 gene) (WRAP53beta)
Protein function RNA chaperone that plays a key role in telomere maintenance and RNA localization to Cajal bodies (PubMed:29695869, PubMed:29804836). Specifically recognizes and binds the Cajal body box (CAB box) present in both small Cajal body RNAs (scaRNAs) a
PDB 7BGB , 7TRC , 7V9A , 8OUE , 8OUF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 263 → 304 WD domain, G-beta repeat Repeat
PF00400 WD40 357 → 396 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues and cell lines examined. {ECO:0000269|PubMed:19250907}.
Sequence 
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAG
SAVSQELREGDPVSLSTPLETEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANG
PELGSGKAMEDTSGEPAAEDEGDTAWNYSFSQLPRFLSGSWSEFSTQPENFLKGCKWAPD
GSCILTNSADNILRIYNLPPELYHEGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP
DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTV
RVFSTARPGRDCEVRATFAKKQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPL
ALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQSGYPLWSLGREVTTNQRIYFD
LDPTGQFLVSGSTSGAVSVWDTDGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS
GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGT
EGGVGELI
Sequence length 548
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Telomere Extension By Telomerase
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Dyskeratosis Congenita Dyskeratosis congenita, autosomal recessive 3 rs281865549, rs281865547, rs1597422298 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Malignant tumor of breast N/A N/A ClinVar
Uterine Fibroids Uterine fibroids N/A N/A GWAS
Show/Hide Text Mining Associations (28)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 28347242
Brain Diseases Associate 30552426
Breast Neoplasms Associate 23886136, 26460974, 31387111, 36975842
Carcinogenesis Associate 28347242
Carcinoma Non Small Cell Lung Associate 28406480, 36706151
Carcinoma Non Small Cell Lung Stimulate 29516630
Chronic Disease Associate 37299586
Classical Lissencephalies and Subcortical Band Heterotopias Associate 25467444
Congenital Bone Marrow Failure Syndromes Associate 31664887
Death Associate 36975842