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Entry version 159 (13 Feb 2019)
Sequence version 1 (01 Jun 2001)
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Protein

Telomerase Cajal body protein 1

Gene

WRAP53

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

RNA chaperone that plays a key role in telomere maintenance and RNA localization to Cajal bodies (PubMed:29804836, PubMed:29695869). Specifically recognizes and binds the Cajal body box (CAB box) present in both small Cajal body RNAs (scaRNAs) and telomerase RNA template component (TERC) (PubMed:19285445, PubMed:20351177, PubMed:29804836, PubMed:29695869). Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes (PubMed:19179534, PubMed:20351177, PubMed:26170453, PubMed:29695869). In the telomerase holoenzyme complex, required to stimulate the catalytic activity of the complex (PubMed:27525486, PubMed:29804836). Acts by specifically binding the CAB box of the TERC RNA and controlling the folding of the CR4/CR5 region of the TERC RNA, a critical step for telomerase activity (PubMed:29804836). In addition, also controls telomerase holoenzyme complex localization to Cajal body (PubMed:22547674). During S phase, required for delivery of TERC to telomeres during S phase and for telomerase activity (PubMed:29804836). In addition to its role in telomere maintenance, also required for Cajal body formation, probably by mediating localization of scaRNAs to Cajal bodies (PubMed:19285445, PubMed:21072240). Also plays a role in DNA repair: phosphorylated by ATM in response to DNA damage and relocalizes to sites of DNA double-strand breaks to promote the repair of DNA double-strand breaks (PubMed:25512560, PubMed:27715493). Acts by recruiting the ubiquitin ligase RNF8 to DNA breaks and promote both homologous recombination (HR) and non-homologous end joining (NHEJ) (PubMed:25512560, PubMed:27715493).11 Publications

Miscellaneous

The mRNA encoding this protein plays a critical role in the regulation of p53/TP53 expression at the post-transcriptional level; it is involved both in maintaining basal p53/TP53 mRNA levels and in p53/TP53 induction upon DNA damage.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChaperone, RNA-binding
Biological processDNA damage, DNA repair

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q9BUR4

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Telomerase Cajal body protein 11 Publication
Alternative name(s):
WD repeat-containing protein 791 Publication
WD40 repeat-containing protein antisense to TP53 gene1 Publication
Short name:
WRAP53beta1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:WRAP531 PublicationImported
Synonyms:TCAB11 Publication, WDR791 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000141499.16

Human Gene Nomenclature Database

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HGNCi
HGNC:25522 WRAP53

Online Mendelian Inheritance in Man (OMIM)

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MIMi
612661 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9BUR4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Nucleus, Telomere

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Dyskeratosis congenita, autosomal recessive, 3 (DKCB3)2 Publications
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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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; shortened telomeres; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli. 2 PublicationsCorresponds 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; shortened telomeres; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli. 2 PublicationsCorresponds to variant dbSNP:rs281865550EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi64S → A: Abolished phosphorylation by ATM and impaired ability to promote DNA repair. 1 Publication1

Keywords - Diseasei

Disease mutation, Dyskeratosis congenita

Organism-specific databases

DisGeNET

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DisGeNETi
55135

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
WRAP53

MalaCards human disease database

More...
MalaCardsi
WRAP53
MIMi613988 phenotype

Open Targets

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OpenTargetsi
ENSG00000141499

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
1775 Dyskeratosis congenita

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA164727568

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
WRAP53

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74761275

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002426961 – 548Telomerase Cajal body protein 1Add BLAST548

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei26PhosphoserineCombined sources1
Modified residuei30PhosphoserineCombined sources1
Modified residuei54PhosphoserineCombined sources1
Modified residuei64Phosphoserine; by ATMCombined sources1 Publication1
Modified residuei85PhosphoserineCombined sources1
Modified residuei90PhosphoserineCombined sources1
Modified residuei112PhosphoserineCombined sources1
Modified residuei114PhosphoserineCombined sources1
Modified residuei489PhosphothreonineCombined sources1
Modified residuei491PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated at Ser-64 by ATM in response to DNA damage, promoting its interaction with histone H2AX/H2AFX and localization to sites of DNA double-strand breaks.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9BUR4

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9BUR4

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9BUR4

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9BUR4

PeptideAtlas

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PeptideAtlasi
Q9BUR4

PRoteomics IDEntifications database

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PRIDEi
Q9BUR4

ProteomicsDB human proteome resource

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ProteomicsDBi
79122

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9BUR4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9BUR4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in all tissues and cell lines examined.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

(Microbial infection) Over-expressed following infection by Epstein-Barr virus.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000141499 Expressed in 184 organ(s), highest expression level in right uterine tube

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9BUR4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9BUR4 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA023026
HPA028130
HPA029928

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the telomerase holoenzyme complex composed of one molecule of TERT, one molecule of WRAP53/TCAB1, two molecules of H/ACA ribonucleoprotein complex subunits DKC1, NOP10, NHP2 and GAR1, and a telomerase RNA template component (TERC) (PubMed:19179534, PubMed:20351177, PubMed:26170453, PubMed:29695869). The telomerase holoenzyme complex is associated with TEP1, SMG6/EST1A and POT1 (PubMed:19179534). Interacts with the chaperonin-containing T-complex (TRiC) complex; which mediates the folding of WRAP53/TCAB1 (PubMed:25467444). Interacts with COIL (PubMed:21072240). Interacts with SMN1 (PubMed:21072240). Interacts with RNF8 (PubMed:25512560). Interacts with histone H2AX/H2AFX (PubMed:26734725, PubMed:27715493).9 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120440, 51 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9BUR4

Database of interacting proteins

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DIPi
DIP-56796N

Protein interaction database and analysis system

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IntActi
Q9BUR4, 32 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000324203

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9BUR4

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati167 – 206WD 1Sequence analysisAdd BLAST40
Repeati222 – 267WD 2Sequence analysisAdd BLAST46
Repeati272 – 313WD 3Sequence analysisAdd BLAST42
Repeati323 – 364WD 4Sequence analysisAdd BLAST42
Repeati365 – 405WD 5Sequence analysisAdd BLAST41
Repeati411 – 450WD 6Sequence analysisAdd BLAST40

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi8 – 57Pro-richAdd BLAST50

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TCAB1 family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2919 Eukaryota
ENOG410XS4K LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000010169

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000030352

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG098609

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9BUR4

Identification of Orthologs from Complete Genome Data

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OMAi
VSCIREN

Database of Orthologous Groups

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OrthoDBi
934297at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9BUR4

TreeFam database of animal gene trees

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TreeFami
TF315169

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.130.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf

Pfam protein domain database

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Pfami
View protein in Pfam
PF00400 WD40, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00320 WD40, 5 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50978 SSF50978, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50082 WD_REPEATS_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4687517268A813B5
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PMG4E9PMG4_HUMAN
Telomerase Cajal body protein 1
WRAP53
515Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PMR3E9PMR3_HUMAN
Telomerase Cajal body protein 1
WRAP53
287Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EJ50K7EJ50_HUMAN
Telomerase Cajal body protein 1
WRAP53
46Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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; shortened telomeres; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli. 2 PublicationsCorresponds 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; shortened telomeres; disrupts telomerase localization to Cajal bodies resulting in misdirection of telomerase RNA to nucleoli. 2 PublicationsCorresponds 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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS11119.1

NCBI Reference Sequences

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RefSeqi
NP_001137462.1, NM_001143990.1
NP_001137463.1, NM_001143991.1
NP_001137464.1, NM_001143992.1
NP_060551.2, NM_018081.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.408312

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000316024; ENSP00000324203; ENSG00000141499
ENST00000396463; ENSP00000379727; ENSG00000141499
ENST00000431639; ENSP00000397219; ENSG00000141499
ENST00000457584; ENSP00000411061; ENSG00000141499

Database of genes from NCBI RefSeq genomes

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GeneIDi
55135

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55135

UCSC genome browser

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UCSCi
uc002gip.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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

3D structure databases

ProteinModelPortaliQ9BUR4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120440, 51 interactors
CORUMiQ9BUR4
DIPiDIP-56796N
IntActiQ9BUR4, 32 interactors
STRINGi9606.ENSP00000324203

PTM databases

iPTMnetiQ9BUR4
PhosphoSitePlusiQ9BUR4

Polymorphism and mutation databases

BioMutaiWRAP53
DMDMi74761275

Proteomic databases

EPDiQ9BUR4
jPOSTiQ9BUR4
MaxQBiQ9BUR4
PaxDbiQ9BUR4
PeptideAtlasiQ9BUR4
PRIDEiQ9BUR4
ProteomicsDBi79122

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55135
DisGeNETi55135
EuPathDBiHostDB:ENSG00000141499.16

GeneCards: human genes, protein and diseases

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GeneCardsi
WRAP53
GeneReviewsiWRAP53
HGNCiHGNC:25522 WRAP53
HPAiHPA023026
HPA028130
HPA029928
MalaCardsiWRAP53
MIMi612661 gene
613988 phenotype
neXtProtiNX_Q9BUR4
OpenTargetsiENSG00000141499
Orphaneti1775 Dyskeratosis congenita
PharmGKBiPA164727568

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2919 Eukaryota
ENOG410XS4K LUCA
GeneTreeiENSGT00390000010169
HOGENOMiHOG000030352
HOVERGENiHBG098609
InParanoidiQ9BUR4
OMAiVSCIREN
OrthoDBi934297at2759
PhylomeDBiQ9BUR4
TreeFamiTF315169

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
WRAP53 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
55135

Protein Ontology

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PROi
PR:Q9BUR4

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000141499 Expressed in 184 organ(s), highest expression level in right uterine tube
ExpressionAtlasiQ9BUR4 baseline and differential
GenevisibleiQ9BUR4 HS

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTCAB1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BUR4
Secondary accession number(s): B3KPR9
, D3DTQ4, Q08ET9, Q9NW09
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 1, 2001
Last modified: February 13, 2019
This is version 159 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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