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Entry version 130 (16 Oct 2019)
Sequence version 1 (01 Dec 2001)
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Protein

Pre-rRNA-processing protein TSR2 homolog

Gene

TSR2

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

Annotation score:3 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

May be involved in 20S pre-rRNA processing.Curated

<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 - 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

Biological processrRNA processing

<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:
Pre-rRNA-processing protein TSR2 homolog
<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:TSR2
<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 X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25455 TSR2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300945 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q969E8

<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

Diamond-Blackfan anemia 14, with mandibulofacial dysostosis (DBA14)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Related information in OMIM
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_07339664E → G in DBA14. 1 PublicationCorresponds to variant dbSNP:rs786203996EnsemblClinVar.1

Keywords - Diseasei

Diamond-Blackfan anemia, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
90121

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

More...
GeneReviewsi
TSR2

MalaCards human disease database

More...
MalaCardsi
TSR2
MIMi300946 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000158526

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

More...
Orphaneti
124 Blackfan-Diamond anemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA145147877

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q969E8

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TSR2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74760678

<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_00002855871 – 190Pre-rRNA-processing protein TSR2 homologAdd BLAST190

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q969E8

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q969E8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q969E8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q969E8

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

More...
PaxDbi
Q969E8

PeptideAtlas

More...
PeptideAtlasi
Q969E8

PRoteomics IDEntifications database

More...
PRIDEi
Q969E8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
75745

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q969E8

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q969E8

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

More...
PhosphoSitePlusi
Q969E8

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q969E8

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000158526 Expressed in 231 organ(s), highest expression level in C1 segment of cervical spinal cord

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q969E8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q969E8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA030514

<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%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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
124665, 8 interactors

Protein interaction database and analysis system

More...
IntActi
Q969E8, 25 interactors

Molecular INTeraction database

More...
MINTi
Q969E8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000364293

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q969E8

Database of comparative protein structure models

More...
ModBasei
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

<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 TSR2 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4032 Eukaryota
ENOG41123VE LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000012692

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000154696

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q969E8

KEGG Orthology (KO)

More...
KOi
K14800

Identification of Orthologs from Complete Genome Data

More...
OMAi
YTYQYCV

Database of Orthologous Groups

More...
OrthoDBi
664798at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q969E8

TreeFam database of animal gene trees

More...
TreeFami
TF314018

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR019398 Pre-rRNA_process_TSR2

The PANTHER Classification System

More...
PANTHERi
PTHR21250 PTHR21250, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10273 WGG, 1 hit

<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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<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.

Q969E8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAGAAEDARA LFRAGVCAAL EAWPALQIAV ENGFGGVHSQ EKAKWLGGAV
60 70 80 90 100
EDYFMRNADL ELDEVEDFLG ELLTNEFDTV VEDGSLPQVS QQLQTMFHHF
110 120 130 140 150
QRGDGAALRE MASCITQRKC KVTATALKTA RETDEDEDDV DSVEEMEVTA
160 170 180 190
TNDGAATDGV CPQPEPSDPD AQTIKEEDIV EDGWTIVRRK K
Length:191
Mass (Da):20,894
Last modified:December 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:iF4B699EC7F7722B3
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07339664E → G in DBA14. 1 PublicationCorresponds to variant dbSNP:rs786203996EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Z85987 Genomic DNA No translation available.
BC007699 mRNA Translation: AAH07699.1
BC011825 mRNA Translation: AAH11825.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14358.1

NCBI Reference Sequences

More...
RefSeqi
NP_477511.1, NM_058163.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000375151; ENSP00000364293; ENSG00000158526

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
90121

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:90121

UCSC genome browser

More...
UCSCi
uc004dte.5 human

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z85987 Genomic DNA No translation available.
BC007699 mRNA Translation: AAH07699.1
BC011825 mRNA Translation: AAH11825.1
CCDSiCCDS14358.1
RefSeqiNP_477511.1, NM_058163.2

3D structure databases

SMRiQ969E8
ModBaseiSearch...

Protein-protein interaction databases

BioGridi124665, 8 interactors
IntActiQ969E8, 25 interactors
MINTiQ969E8
STRINGi9606.ENSP00000364293

PTM databases

iPTMnetiQ969E8
PhosphoSitePlusiQ969E8
SwissPalmiQ969E8

Polymorphism and mutation databases

BioMutaiTSR2
DMDMi74760678

Proteomic databases

EPDiQ969E8
jPOSTiQ969E8
MassIVEiQ969E8
MaxQBiQ969E8
PaxDbiQ969E8
PeptideAtlasiQ969E8
PRIDEiQ969E8
ProteomicsDBi75745
TopDownProteomicsiQ969E8

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
90121

Genome annotation databases

EnsembliENST00000375151; ENSP00000364293; ENSG00000158526
GeneIDi90121
KEGGihsa:90121
UCSCiuc004dte.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
90121
DisGeNETi90121

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TSR2
GeneReviewsiTSR2
HGNCiHGNC:25455 TSR2
HPAiHPA030514
MalaCardsiTSR2
MIMi300945 gene
300946 phenotype
neXtProtiNX_Q969E8
OpenTargetsiENSG00000158526
Orphaneti124 Blackfan-Diamond anemia
PharmGKBiPA145147877

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4032 Eukaryota
ENOG41123VE LUCA
GeneTreeiENSGT00390000012692
HOGENOMiHOG000154696
InParanoidiQ969E8
KOiK14800
OMAiYTYQYCV
OrthoDBi664798at2759
PhylomeDBiQ969E8
TreeFamiTF314018

Miscellaneous databases

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

More...
ChiTaRSi
TSR2 human

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

More...
GenomeRNAii
90121
PharosiQ969E8

Protein Ontology

More...
PROi
PR:Q969E8

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000158526 Expressed in 231 organ(s), highest expression level in C1 segment of cervical spinal cord
ExpressionAtlasiQ969E8 baseline and differential
GenevisibleiQ969E8 HS

Family and domain databases

InterProiView protein in InterPro
IPR019398 Pre-rRNA_process_TSR2
PANTHERiPTHR21250 PTHR21250, 1 hit
PfamiView protein in Pfam
PF10273 WGG, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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 nameiTSR2_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: Q969E8
<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: May 1, 2007
Last sequence update: December 1, 2001
Last modified: October 16, 2019
This is version 130 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. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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