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Q9BUR4 (WAP53_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Telomerase Cajal body protein 1
Alternative name(s):
WD repeat-containing protein 79
WD40 repeat-containing protein encoding RNA antisense to p53
Gene names
Name:WRAP53
Synonyms:TCAB1, WDR79
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length548 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.11 Ref.13

Subunit 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). Ref.13

Subcellular location

NucleusCajal body. Cytoplasm Ref.11 Ref.13.

Tissue specificity

Expressed in all tissues and cell lines examined. Ref.11

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.16

Sequence similarities

Contains 6 WD repeats.

Ontologies

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 548548Telomerase Cajal body protein 1
PRO_0000242696

Regions

Repeat167 – 20640WD 1
Repeat222 – 26746WD 2
Repeat272 – 31342WD 3
Repeat323 – 36442WD 4
Repeat365 – 40541WD 5
Repeat411 – 45040WD 6
Compositional bias8 – 5750Pro-rich

Amino acid modifications

Modified residue261Phosphoserine Ref.9 Ref.14
Modified residue301Phosphoserine Ref.9 Ref.14
Modified residue541Phosphoserine Ref.5 Ref.8 Ref.9
Modified residue851Phosphoserine Ref.9 Ref.12
Modified residue901Phosphoserine Ref.6 Ref.9 Ref.12 Ref.14
Modified residue1121Phosphoserine Ref.9 Ref.12
Modified residue1141Phosphoserine Ref.9 Ref.12
Modified residue4891Phosphothreonine Ref.9 Ref.12
Modified residue4911Phosphoserine Ref.9 Ref.12 Ref.14 Ref.15

Natural variations

Natural variant111P → S.
Corresponds to variant rs17880282 [ dbSNP | Ensembl ].
VAR_026865
Natural variant681R → G. Ref.3 Ref.16
Corresponds to variant rs2287499 [ dbSNP | Ensembl ].
VAR_026866
Natural variant1361P → R.
Corresponds to variant rs34067256 [ dbSNP | Ensembl ].
VAR_057618
Natural variant1641F → L in DKCB3; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli. Ref.16
VAR_065873
Natural variant1871N → T.
Corresponds to variant rs35762939 [ dbSNP | Ensembl ].
VAR_057619
Natural variant3761H → Y in DKCB3; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli. Ref.16
VAR_065874
Natural variant3981R → W in DKCB3; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli. Ref.16
VAR_065875
Natural variant4351G → R in DKCB3; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli. Ref.16
VAR_065876
Natural variant4941E → Q.
Corresponds to variant rs35123152 [ dbSNP | Ensembl ].
VAR_057620
Natural variant5221A → G. Ref.16
Corresponds to variant rs7640 [ dbSNP | Ensembl ].
VAR_026867

Experimental info

Sequence conflict211A → V in BAA91579. Ref.2
Sequence conflict4971E → G in BAG51781. Ref.2
Sequence conflict5261S → G in BAG51781. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q9BUR4 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: 4687517268A813B5

FASTA54859,309
        10         20         30         40         50         60 
MKTLETQPLA PDCCPSDQDP APAHPSPHAS PMNKNADSEL MPPPPERGDP PRLSPDPVAG 

        70         80         90        100        110        120 
SAVSQELREG DPVSLSTPLE TEFGSPSELS PRIEEQELSE NTSLPAEEAN GSLSEEEANG 

       130        140        150        160        170        180 
PELGSGKAME DTSGEPAAED EGDTAWNYSF SQLPRFLSGS WSEFSTQPEN FLKGCKWAPD 

       190        200        210        220        230        240 
GSCILTNSAD NILRIYNLPP ELYHEGEQVE YAEMVPVLRM VEGDTIYDYC WYSLMSSAQP 

       250        260        270        280        290        300 
DTSYVASSSR ENPIHIWDAF TGELRASFRA YNHLDELTAA HSLCFSPDGS QLFCGFNRTV 

       310        320        330        340        350        360 
RVFSTARPGR DCEVRATFAK KQGQSGIISC IAFSPAQPLY ACGSYGRSLG LYAWDDGSPL 

       370        380        390        400        410        420 
ALLGGHQGGI THLCFHPDGN RFFSGARKDA ELLCWDLRQS GYPLWSLGRE VTTNQRIYFD 

       430        440        450        460        470        480 
LDPTGQFLVS GSTSGAVSVW DTDGPGNDGK PEPVLSFLPQ KDCTNGVSLH PSLPLLATAS 

       490        500        510        520        530        540 
GQRVFPEPTE SGDEGEELGL PLLSTRHVHL ECRLQLWWCG GAPDSSIPDD HQGEKGQGGT 


EGGVGELI 

« Hide

References

« Hide 'large scale' references
[1]"Endogenous p53 antisense transcript Wrap53 is required for p53 stabilization upon DNA damage."
Hammarsund M.
Submitted (MAR-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLY-68.
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Kidney.
[5]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-54, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[6]"A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-90, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic kidney.
[8]"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-54, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-26; SER-30; SER-54; SER-85; SER-90; SER-112; SER-114; THR-489 AND SER-491, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"Wrap53, a natural p53 antisense transcript required for p53 induction upon DNA damage."
Mahmoudi S., Henriksson S., Corcoran M., Mendez-Vidal C., Wiman K.G., Farnebo M.
Mol. Cell 33:462-471(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
[12]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-85; SER-90; SER-112; SER-114; THR-489 AND SER-491, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[13]"A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis."
Venteicher A.S., Abreu E.B., Meng Z., McCann K.E., Terns R.M., Veenstra T.D., Terns M.P., Artandi S.E.
Science 323:644-648(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE TELOMERASE HOLOENZYME COMPLEX, RNA-BINDING.
[14]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-26; SER-30; SER-90 AND SER-491, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[15]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-491, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[16]"Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita."
Zhong F., Savage S.A., Shkreli M., Giri N., Jessop L., Myers T., Chen R., Alter B.P., Artandi S.E.
Genes Dev. 25:11-16(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DKCB3 LEU-164; TYR-376; TRP-398 AND ARG-435, VARIANTS GLY-68 AND GLY-522, CHARACTERIZATION OF VARIANTS DKCB3 LEU-164; TYR-376; TRP-398 AND ARG-435.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001137462.1. NM_001143990.1.
NP_001137463.1. NM_001143991.1.
NP_001137464.1. NM_001143992.1.
NP_060551.2. NM_018081.2.
UniGeneHs.408312.

3D structure databases

ProteinModelPortalQ9BUR4.
SMRQ9BUR4. Positions 137-483.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120440. 10 interactions.
DIPDIP-56796N.
IntActQ9BUR4. 3 interactions.
STRING9606.ENSP00000324203.

PTM databases

PhosphoSiteQ9BUR4.

Polymorphism databases

DMDM74761275.

Proteomic databases

PaxDbQ9BUR4.
PeptideAtlasQ9BUR4.
PRIDEQ9BUR4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000316024; ENSP00000324203; ENSG00000141499.
ENST00000396463; ENSP00000379727; ENSG00000141499.
ENST00000431639; ENSP00000397219; ENSG00000141499.
ENST00000457584; ENSP00000411061; ENSG00000141499.
GeneID55135.
KEGGhsa:55135.
UCSCuc002gip.3. human.

Organism-specific databases

CTD55135.
GeneCardsGC17P007589.
HGNCHGNC:25522. WRAP53.
HPAHPA023026.
HPA028130.
HPA029928.
MIM612661. gene.
613988. phenotype.
neXtProtNX_Q9BUR4.
Orphanet1775. Dyskeratosis congenita.
PharmGKBPA164727568.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2319.
HOGENOMHOG000030352.
HOVERGENHBG098609.
InParanoidQ9BUR4.
OMAEYAEMVP.
OrthoDBEOG7FNC74.
PhylomeDBQ9BUR4.
TreeFamTF315169.

Enzyme and pathway databases

SignaLinkQ9BUR4.

Gene expression databases

ArrayExpressQ9BUR4.
BgeeQ9BUR4.
CleanExHS_WDR79.
GenevestigatorQ9BUR4.

Family and domain databases

Gene3D2.130.10.10. 2 hits.
InterProIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF00400. WD40. 4 hits.
[Graphical view]
SMARTSM00320. WD40. 5 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 1 hit.
PROSITEPS50082. WD_REPEATS_2. 2 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi55135.
NextBio58818.
PROQ9BUR4.
SOURCESearch...

Entry information

Entry nameWAP53_HUMAN
AccessionPrimary (citable) accession number: Q9BUR4
Secondary accession number(s): B3KPR9 expand/collapse secondary AC list , D3DTQ4, Q08ET9, Q9NW09
Entry history
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 1, 2001
Last modified: April 16, 2014
This is version 113 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM