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Protein

Telomerase Cajal body protein 1

Gene

WRAP53

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

  • chaperone binding Source: BHF-UCL
  • identical protein binding Source: IntAct
  • protein-containing complex binding Source: BHF-UCL
  • RNA binding Source: UniProtKB
  • telomerase RNA binding Source: BHF-UCL

GO - Biological processi

  • positive regulation of establishment of protein localization to telomere Source: BHF-UCL
  • positive regulation of telomerase activity Source: UniProtKB
  • protein localization to Cajal body Source: BHF-UCL
  • scaRNA localization to Cajal body Source: BHF-UCL
  • telomerase RNA localization to Cajal body Source: BHF-UCL
  • telomere formation via telomerase Source: UniProtKB
  • telomere maintenance via telomerase Source: BHF-UCL

Keywordsi

Molecular functionRNA-binding

Enzyme and pathway databases

ReactomeiR-HSA-171319 Telomere Extension By Telomerase
R-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis
SignaLinkiQ9BUR4

Names & Taxonomyi

Protein namesi
Recommended name:
Telomerase Cajal body protein 1
Alternative name(s):
WD repeat-containing protein 79
WD repeat-containing protein WRAP53
WD40 repeat-containing protein antisense to TP53 gene
Gene namesi
Name:WRAP53
Synonyms:TCAB1, WDR79
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000141499.16
HGNCiHGNC:25522 WRAP53
MIMi612661 gene
neXtProtiNX_Q9BUR4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Dyskeratosis congenita, autosomal recessive, 3 (DKCB3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613988
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065873164F → L in DKCB3; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli. 1 PublicationCorresponds to variant dbSNP:rs281865547EnsemblClinVar.1
Natural variantiVAR_065874376H → Y in DKCB3; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli. 1 PublicationCorresponds to variant dbSNP:rs281865549EnsemblClinVar.1
Natural variantiVAR_065875398R → W in DKCB3; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli. 1 PublicationCorresponds to variant dbSNP:rs281865548EnsemblClinVar.1
Natural variantiVAR_065876435G → R in DKCB3; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli. 1 PublicationCorresponds to variant dbSNP:rs281865550EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dyskeratosis congenita

Organism-specific databases

DisGeNETi55135
GeneReviewsiWRAP53
MalaCardsiWRAP53
MIMi613988 phenotype
OpenTargetsiENSG00000141499
Orphaneti1775 Dyskeratosis congenita
PharmGKBiPA164727568

Polymorphism and mutation databases

BioMutaiWRAP53
DMDMi74761275

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002426961 – 548Telomerase Cajal body protein 1Add BLAST548

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei26PhosphoserineCombined sources1
Modified residuei30PhosphoserineCombined sources1
Modified residuei54PhosphoserineCombined sources1
Modified residuei64PhosphoserineCombined sources1
Modified residuei85PhosphoserineCombined sources1
Modified residuei90PhosphoserineCombined sources1
Modified residuei112PhosphoserineCombined sources1
Modified residuei114PhosphoserineCombined sources1
Modified residuei489PhosphothreonineCombined sources1
Modified residuei491PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BUR4
MaxQBiQ9BUR4
PaxDbiQ9BUR4
PeptideAtlasiQ9BUR4
PRIDEiQ9BUR4
ProteomicsDBi79122

PTM databases

iPTMnetiQ9BUR4
PhosphoSitePlusiQ9BUR4

Expressioni

Tissue specificityi

Expressed in all tissues and cell lines examined.1 Publication

Gene expression databases

BgeeiENSG00000141499
CleanExiHS_WDR79
ExpressionAtlasiQ9BUR4 baseline and differential
GenevisibleiQ9BUR4 HS

Organism-specific databases

HPAiHPA023026
HPA028130
HPA029928

Interactioni

Subunit structurei

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).1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • chaperone binding Source: BHF-UCL
  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi120440, 50 interactors
CORUMiQ9BUR4
DIPiDIP-56796N
IntActiQ9BUR4, 32 interactors
STRINGi9606.ENSP00000324203

Structurei

3D structure databases

ProteinModelPortaliQ9BUR4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati167 – 206WD 1Add BLAST40
Repeati222 – 267WD 2Add BLAST46
Repeati272 – 313WD 3Add BLAST42
Repeati323 – 364WD 4Add BLAST42
Repeati365 – 405WD 5Add BLAST41
Repeati411 – 450WD 6Add BLAST40

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi8 – 57Pro-richAdd BLAST50

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG2919 Eukaryota
ENOG410XS4K LUCA
GeneTreeiENSGT00390000010169
HOGENOMiHOG000030352
HOVERGENiHBG098609
InParanoidiQ9BUR4
OMAiVSCIREN
OrthoDBiEOG091G0FP1
PhylomeDBiQ9BUR4
TreeFamiTF315169

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00400 WD40, 2 hits
SMARTiView protein in SMART
SM00320 WD40, 5 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50082 WD_REPEATS_2, 2 hits
PS50294 WD_REPEATS_REGION, 1 hit

Sequencei

Sequence statusi: Complete.

Q9BUR4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKTLETQPLA PDCCPSDQDP APAHPSPHAS PMNKNADSEL MPPPPERGDP
60 70 80 90 100
PRLSPDPVAG SAVSQELREG DPVSLSTPLE TEFGSPSELS PRIEEQELSE
110 120 130 140 150
NTSLPAEEAN GSLSEEEANG PELGSGKAME DTSGEPAAED EGDTAWNYSF
160 170 180 190 200
SQLPRFLSGS WSEFSTQPEN FLKGCKWAPD GSCILTNSAD NILRIYNLPP
210 220 230 240 250
ELYHEGEQVE YAEMVPVLRM VEGDTIYDYC WYSLMSSAQP DTSYVASSSR
260 270 280 290 300
ENPIHIWDAF TGELRASFRA YNHLDELTAA HSLCFSPDGS QLFCGFNRTV
310 320 330 340 350
RVFSTARPGR DCEVRATFAK KQGQSGIISC IAFSPAQPLY ACGSYGRSLG
360 370 380 390 400
LYAWDDGSPL ALLGGHQGGI THLCFHPDGN RFFSGARKDA ELLCWDLRQS
410 420 430 440 450
GYPLWSLGRE VTTNQRIYFD LDPTGQFLVS GSTSGAVSVW DTDGPGNDGK
460 470 480 490 500
PEPVLSFLPQ KDCTNGVSLH PSLPLLATAS GQRVFPEPTE SGDEGEELGL
510 520 530 540
PLLSTRHVHL ECRLQLWWCG GAPDSSIPDD HQGEKGQGGT EGGVGELI
Length:548
Mass (Da):59,309
Last modified:June 1, 2001 - v1
Checksum:i4687517268A813B5
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti21A → V in BAA91579 (PubMed:14702039).Curated1
Sequence conflicti497E → G in BAG51781 (PubMed:14702039).Curated1
Sequence conflicti526S → G in BAG51781 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02686511P → S. Corresponds to variant dbSNP:rs17880282EnsemblClinVar.1
Natural variantiVAR_02686668R → G2 PublicationsCorresponds to variant dbSNP:rs2287499EnsemblClinVar.1
Natural variantiVAR_057618136P → R. Corresponds to variant dbSNP:rs34067256EnsemblClinVar.1
Natural variantiVAR_065873164F → L in DKCB3; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli. 1 PublicationCorresponds to variant dbSNP:rs281865547EnsemblClinVar.1
Natural variantiVAR_057619187N → T. Corresponds to variant dbSNP:rs35762939Ensembl.1
Natural variantiVAR_065874376H → Y in DKCB3; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli. 1 PublicationCorresponds to variant dbSNP:rs281865549EnsemblClinVar.1
Natural variantiVAR_065875398R → W in DKCB3; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli. 1 PublicationCorresponds to variant dbSNP:rs281865548EnsemblClinVar.1
Natural variantiVAR_065876435G → R in DKCB3; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli. 1 PublicationCorresponds to variant dbSNP:rs281865550EnsemblClinVar.1
Natural variantiVAR_057620494E → Q. Corresponds to variant dbSNP:rs35123152Ensembl.1
Natural variantiVAR_026867522A → G1 PublicationCorresponds to variant dbSNP:rs7640EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY766322 mRNA Translation: AAW92115.1
DQ431240 mRNA Translation: ABD92817.1
DQ431241 mRNA Translation: ABD92818.1
AK001247 mRNA Translation: BAA91579.1
AK056669 mRNA Translation: BAG51781.1
CH471108 Genomic DNA Translation: EAW90136.1
CH471108 Genomic DNA Translation: EAW90138.1
CH471108 Genomic DNA Translation: EAW90139.1
BC002336 mRNA Translation: AAH02336.1
CCDSiCCDS11119.1
RefSeqiNP_001137462.1, NM_001143990.1
NP_001137463.1, NM_001143991.1
NP_001137464.1, NM_001143992.1
NP_060551.2, NM_018081.2
UniGeneiHs.408312

Genome annotation databases

EnsembliENST00000316024; ENSP00000324203; ENSG00000141499
ENST00000396463; ENSP00000379727; ENSG00000141499
ENST00000431639; ENSP00000397219; ENSG00000141499
ENST00000457584; ENSP00000411061; ENSG00000141499
GeneIDi55135
KEGGihsa:55135
UCSCiuc002gip.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiWAP53_HUMAN
AccessioniPrimary (citable) accession number: Q9BUR4
Secondary accession number(s): B3KPR9
, D3DTQ4, Q08ET9, Q9NW09
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 1, 2001
Last modified: July 18, 2018
This is version 153 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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