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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

Complete GO annotation...

Keywords - Biological processi

rRNA 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

HGNCiHGNC:25455. TSR2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti64 – 641E → G in DBA14. 1 Publication
Corresponds to variant rs786203996 [ dbSNP | Ensembl ].
VAR_073396

Keywords - Diseasei

Diamond-Blackfan anemia, Disease mutation

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiTSR2.
DMDMi74760678.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 190190Pre-rRNA-processing protein TSR2 homologPRO_0000285587Add
BLAST

Proteomic databases

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

PTM databases

iPTMnetiQ969E8.
PhosphoSiteiQ969E8.

Expressioni

Gene expression databases

BgeeiQ969E8.
CleanExiHS_TSR2.
ExpressionAtlasiQ969E8. baseline and differential.
GenevisibleiQ969E8. HS.

Organism-specific databases

HPAiHPA030514.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
GABARAPL2P605205EBI-746981,EBI-720116
KIFC3Q9BVG83EBI-746981,EBI-2125614
PIAS2O759283EBI-746981,EBI-348555
RPS26P628548EBI-746981,EBI-353438
ZBTB9Q96C003EBI-746981,EBI-395708

Protein-protein interaction databases

BioGridi124665. 8 interactions.
IntActiQ969E8. 7 interactions.
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.
OMAiAEKRDWI.
OrthoDBiEOG7DFXG2.
PhylomeDBiQ969E8.
TreeFamiTF314018.

Family and domain databases

InterProiIPR019398. Pre-rRNA_process_TSR2.
[Graphical view]
PfamiPF10273. WGG. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti64 – 641E → G in DBA14. 1 Publication
Corresponds to variant rs786203996 [ dbSNP | Ensembl ].
VAR_073396

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z85987 Genomic DNA. Translation: CAI42223.1.
BC007699 mRNA. Translation: AAH07699.1.
BC011825 mRNA. Translation: AAH11825.1.
CCDSiCCDS14358.1.
RefSeqiNP_477511.1. NM_058163.1.
UniGeneiHs.522662.

Genome annotation databases

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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z85987 Genomic DNA. Translation: CAI42223.1.
BC007699 mRNA. Translation: AAH07699.1.
BC011825 mRNA. Translation: AAH11825.1.
CCDSiCCDS14358.1.
RefSeqiNP_477511.1. NM_058163.1.
UniGeneiHs.522662.

3D structure databases

ProteinModelPortaliQ969E8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124665. 8 interactions.
IntActiQ969E8. 7 interactions.
STRINGi9606.ENSP00000364293.

PTM databases

iPTMnetiQ969E8.
PhosphoSiteiQ969E8.

Polymorphism and mutation databases

BioMutaiTSR2.
DMDMi74760678.

Proteomic databases

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

Protocols and materials databases

DNASUi90121.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi90121.
GeneCardsiTSR2.
HGNCiHGNC:25455. TSR2.
HPAiHPA030514.
MalaCardsiTSR2.
MIMi300945. gene.
300946. phenotype.
neXtProtiNX_Q969E8.
Orphaneti124. Blackfan-Diamond anemia.
PharmGKBiPA145147877.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4032. Eukaryota.
ENOG41123VE. LUCA.
GeneTreeiENSGT00390000012692.
HOGENOMiHOG000154696.
HOVERGENiHBG054486.
InParanoidiQ969E8.
KOiK14800.
OMAiAEKRDWI.
OrthoDBiEOG7DFXG2.
PhylomeDBiQ969E8.
TreeFamiTF314018.

Miscellaneous databases

ChiTaRSiTSR2. human.
GenomeRNAii90121.
PROiQ969E8.
SOURCEiSearch...

Gene expression databases

BgeeiQ969E8.
CleanExiHS_TSR2.
ExpressionAtlasiQ969E8. baseline and differential.
GenevisibleiQ969E8. HS.

Family and domain databases

InterProiIPR019398. Pre-rRNA_process_TSR2.
[Graphical view]
PfamiPF10273. WGG. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "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: Skin.
  3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  4. "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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  5. "Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28."
    UW Center for Mendelian Genomics
    Gripp K.W., Curry C., Olney A.H., Sandoval C., Fisher J., Chong J.X., Pilchman L., Sahraoui R., Stabley D.L., Sol-Church K.
    Am. J. Med. Genet. A 164A:2240-2249(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DBA14 GLY-64.

Entry informationi

Entry nameiTSR2_HUMAN
AccessioniPrimary (citable) accession number: Q969E8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: December 1, 2001
Last modified: July 6, 2016
This is version 108 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.