WRAP53 WD repeat containing antisense to TP53 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WRAP53provided by HGNC
Official Full Name: WD repeat containing antisense to TP53provided by HGNC
Primary source: HGNC:HGNC:25522
See related: Ensembl:ENSG00000141499 MIM:612661; AllianceGenome:HGNC:25522
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DKCB3; TCAB1; WDR79
Summary: 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]
Expression: Ubiquitous expression in lymph node (RPKM 2.8), testis (RPKM 2.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (7686071..7703502)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (7590175..7607622)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (7589389..7606820)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TCAB1 prevents nucleolar accumulation of the telomerase RNA to facilitate telomerase assembly.
Title: TCAB1 prevents nucleolar accumulation of the telomerase RNA to facilitate telomerase assembly.
Differential effects of WRAP53 transcript variants on non-small cell lung cancer cell behaviors.
Title: Differential effects of WRAP53 transcript variants on non-small cell lung cancer cell behaviors.
Next-generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17.
Title: Next-generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17.
[Effect of WRAP53 beta Targeted Co-Inhibitory Pathways Based on Comprehensive Bioinformatics Analysis in Treating Squamous Cell Carcinoma of the Head and Neck].
Title: [Effect of WRAP53 β Targeted Co-Inhibitory Pathways Based on Comprehensive Bioinformatics Analysis in Treating Squamous Cell Carcinoma of the Head and Neck].
Nuclear WRAP53 promotes neuronal survival and functional recovery after stroke.
Title: Nuclear WRAP53 promotes neuronal survival and functional recovery after stroke.
Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome.
Title: Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome.
analyze a haplotype comprising four SNPs, including rs1042522, rs17878362, rs2287499, and rs2287498, which are located at 5' regions of the TP53 and WRAP53 genes as molecular prognostic and predictive biomarkers for breast cancer.
Title: Haplotype and linkage disequilibrium of TP53-WRAP53 locus in Iranian-Azeri women with breast cancer.
These findings reveal that WDR79 is a novel UHRF1 regulator by maintaining UHRF1 stability.
Title: WDR79 mediates the proliferation of non-small cell lung cancer cells by regulating the stability of UHRF1.
we suggest that TDP-43 and WDR79 have separate roles in determining Cajal bodies (CBs) localization of subsets of C/D and H/ACA scaRNAs.
Title: TDP-43 regulates site-specific 2'-O-methylation of U1 and U2 snRNAs via controlling the Cajal body localization of a subset of C/D scaRNAs.
Data show that up-regulated expression of telomerase Cajal body protein 1 (TCAB1), induced by Epstein-Barr virus (EBV) in the development of nasopharyngeal carcinoma (NPC), is involved in stimulating telomerase activity and regulating the DNA damage response.
Title: Epstein-Barr virus-induced up-regulation of TCAB1 is involved in the DNA damage response in nasopharyngeal carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Dyskeratosis congenita, autosomal recessive 3 MedGen: C3151442 OMIM: 613988 GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102959 (e-PCR)
- UniSTS:97293

D17S634 (e-PCR)
- UniSTS:71700

MARC_3409-3410:966894317:1 (e-PCR)
- UniSTS:231029

MARC_3409-3410:991937215:1 (e-PCR)
- UniSTS:231029

GDB:316876 (e-PCR)
- UniSTS:156580

GDB:181608 (e-PCR)
- UniSTS:155314

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA folding chaperone	IDA Inferred from Direct Assay more info	PubMed
enables histone binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein carrier chaperone	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
enables telomerase RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables telomerase RNA binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Cajal body organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in Cajal body organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in RNA folding	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA repair	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of double-strand break repair	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of double-strand break repair via nonhomologous end joining	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of establishment of protein localization to telomere	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of positive regulation of telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to Cajal body	IDA Inferred from Direct Assay more info	PubMed
involved_in scaRNA localization to Cajal body	IDA Inferred from Direct Assay more info	PubMed
involved_in scaRNA localization to Cajal body	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomerase RNA localization to Cajal body	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere formation via telomerase	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of telomere maintenance via telomerase	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in Cajal body	IBA Inferred from Biological aspect of Ancestor more info
located_in Cajal body	IDA Inferred from Direct Assay more info	PubMed
located_in Cajal body	IMP Inferred from Mutant Phenotype more info	PubMed
located_in chromosome, telomeric region	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed
part_of telomerase holoenzyme complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: telomerase Cajal body protein 1

Names: WD repeat-containing protein 79; WD repeat-containing protein WRAP53; WD40 protein Wrap53; WD40 repeat-containing protein antisense to TP53; WD40 repeat-containing protein encoding RNA antisense to p53; WRAP53beta

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028245.1 RefSeqGene

Range

5001..22432

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_375

mRNA and Protein(s)

NM_001143990.2 → NP_001137462.1 telomerase Cajal body protein 1

See identical proteins and their annotated locations for NP_001137462.1

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as WRAP53gamma) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.

Source sequence(s)

DQ431241

Consensus CDS

CCDS11119.1

UniProtKB/Swiss-Prot

B3KPR9, D3DTQ4, Q08ET9, Q9BUR4, Q9NW09

UniProtKB/TrEMBL

E9PMG4

Related

ENSP00000397219.2, ENST00000431639.6

Conserved Domains (2) summary

sd00039
Location:175 → 223

7WD40; WD40 repeat [structural motif]

cl29593
Location:175 → 480

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001143991.2 → NP_001137463.1 telomerase Cajal body protein 1

See identical proteins and their annotated locations for NP_001137463.1

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as WRAP53alpha) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.

Source sequence(s)

AC087388, AY766322

Consensus CDS

CCDS11119.1

UniProtKB/Swiss-Prot

B3KPR9, D3DTQ4, Q08ET9, Q9BUR4, Q9NW09

UniProtKB/TrEMBL

E9PMG4

Related

ENSP00000411061.2, ENST00000457584.6

Conserved Domains (2) summary

sd00039
Location:175 → 223

7WD40; WD40 repeat [structural motif]

cl29593
Location:175 → 480

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001143992.2 → NP_001137464.1 telomerase Cajal body protein 1

See identical proteins and their annotated locations for NP_001137464.1

Status: REVIEWED

Description

Transcript Variant: This variant (4, also known as WRAP53beta) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.

Source sequence(s)

DQ431240

Consensus CDS

CCDS11119.1

UniProtKB/Swiss-Prot

B3KPR9, D3DTQ4, Q08ET9, Q9BUR4, Q9NW09

UniProtKB/TrEMBL

E9PMG4

Related

ENSP00000379727.3, ENST00000396463.7

Conserved Domains (2) summary

sd00039
Location:175 → 223

7WD40; WD40 repeat [structural motif]

cl29593
Location:175 → 480

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_018081.2 → NP_060551.2 telomerase Cajal body protein 1

See identical proteins and their annotated locations for NP_060551.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1-4 encode the same protein.

Source sequence(s)

AK225411, DQ431240

Consensus CDS

CCDS11119.1

UniProtKB/Swiss-Prot

B3KPR9, D3DTQ4, Q08ET9, Q9BUR4, Q9NW09

UniProtKB/TrEMBL

E9PMG4

Related

ENSP00000324203.5, ENST00000316024.9

Conserved Domains (2) summary

sd00039
Location:175 → 223

7WD40; WD40 repeat [structural motif]

cl29593
Location:175 → 480

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...