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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-Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

Keywordsi

Biological processrRNA processing

Names & Taxonomyi

Protein namesi
Recommended name:
Pre-rRNA-processing protein TSR2 homolog
Gene namesi
Name:TSR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000158526.7.
HGNCiHGNC:25455. TSR2.

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

Pathology & Biotechi

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.
See also OMIM:300946
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07339664E → G in DBA14. 1 PublicationCorresponds to variant dbSNP:rs786203996Ensembl.1

Keywords - Diseasei

Diamond-Blackfan anemia, Disease mutation

Organism-specific databases

DisGeNETi90121.
MalaCardsiTSR2.
MIMi300946. phenotype.
OpenTargetsiENSG00000158526.
Orphaneti124. Blackfan-Diamond anemia.
PharmGKBiPA145147877.

Polymorphism and mutation databases

BioMutaiTSR2.
DMDMi74760678.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002855871 – 190Pre-rRNA-processing protein TSR2 homologAdd BLAST190

Proteomic databases

EPDiQ969E8.
MaxQBiQ969E8.
PaxDbiQ969E8.
PeptideAtlasiQ969E8.
PRIDEiQ969E8.
TopDownProteomicsiQ969E8.

PTM databases

iPTMnetiQ969E8.
PhosphoSitePlusiQ969E8.

Expressioni

Gene expression databases

BgeeiENSG00000158526.
CleanExiHS_TSR2.
ExpressionAtlasiQ969E8. baseline and differential.
GenevisibleiQ969E8. HS.

Organism-specific databases

HPAiHPA030514.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi124665. 8 interactors.
IntActiQ969E8. 19 interactors.
STRINGi9606.ENSP00000364293.

Structurei

3D structure databases

ProteinModelPortaliQ969E8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TSR2 family.Curated

Phylogenomic databases

eggNOGiKOG4032. Eukaryota.
ENOG41123VE. LUCA.
GeneTreeiENSGT00390000012692.
HOGENOMiHOG000154696.
HOVERGENiHBG054486.
InParanoidiQ969E8.
KOiK14800.
OMAiELMDQEF.
OrthoDBiEOG091G18BK.
PhylomeDBiQ969E8.
TreeFamiTF314018.

Family and domain databases

InterProiView protein in InterPro
IPR019398. Pre-rRNA_process_TSR2.
PfamiView protein in Pfam
PF10273. WGG. 1 hit.

Sequencei

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
Checksum:iF4B699EC7F7722B3
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07339664E → G in DBA14. 1 PublicationCorresponds to variant dbSNP:rs786203996Ensembl.1

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.
UniGeneiHs.522662.
Hs.658392.

Genome annotation databases

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

Similar proteinsi

Entry informationi

Entry nameiTSR2_HUMAN
AccessioniPrimary (citable) accession number: Q969E8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: December 1, 2001
Last modified: September 27, 2017
This is version 119 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 X
    Human chromosome X: 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
  5. SIMILARITY comments
    Index of protein domains and families