TSR2_HUMAN
ID TSR2_HUMAN Reviewed; 191 AA.
AC Q969E8;
DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Pre-rRNA-processing protein TSR2 homolog;
GN Name=TSR2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [5]
RP VARIANT DBA14 GLY-64.
RX PubMed=24942156; DOI=10.1002/ajmg.a.36633;
RG UW Center for Mendelian Genomics;
RA Gripp K.W., Curry C., Olney A.H., Sandoval C., Fisher J., Chong J.X.,
RA Pilchman L., Sahraoui R., Stabley D.L., Sol-Church K.;
RT "Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous,
RT including the novel DBA genes TSR2 and RPS28.";
RL Am. J. Med. Genet. A 164A:2240-2249(2014).
CC -!- FUNCTION: May be involved in 20S pre-rRNA processing. {ECO:0000305}.
CC -!- INTERACTION:
CC Q969E8; Q9UQM7: CAMK2A; NbExp=3; IntAct=EBI-746981, EBI-1383687;
CC Q969E8; Q8IY22-3: CMIP; NbExp=3; IntAct=EBI-746981, EBI-12149877;
CC Q969E8; Q02930-3: CREB5; NbExp=3; IntAct=EBI-746981, EBI-10192698;
CC Q969E8; A0PJW8: DAPL1; NbExp=3; IntAct=EBI-746981, EBI-12840152;
CC Q969E8; Q9NRI5-2: DISC1; NbExp=3; IntAct=EBI-746981, EBI-11988027;
CC Q969E8; Q9NQT5: EXOSC3; NbExp=3; IntAct=EBI-746981, EBI-371866;
CC Q969E8; O95166: GABARAP; NbExp=5; IntAct=EBI-746981, EBI-712001;
CC Q969E8; P60520: GABARAPL2; NbExp=11; IntAct=EBI-746981, EBI-720116;
CC Q969E8; Q86XJ1: GAS2L3; NbExp=3; IntAct=EBI-746981, EBI-9248152;
CC Q969E8; O15499: GSC2; NbExp=3; IntAct=EBI-746981, EBI-19954058;
CC Q969E8; Q96L93-6: KIF16B; NbExp=3; IntAct=EBI-746981, EBI-10988217;
CC Q969E8; Q9BVG8: KIFC3; NbExp=3; IntAct=EBI-746981, EBI-2125614;
CC Q969E8; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-746981, EBI-14069005;
CC Q969E8; P55268: LAMB2; NbExp=3; IntAct=EBI-746981, EBI-2529769;
CC Q969E8; Q9BXW4: MAP1LC3C; NbExp=3; IntAct=EBI-746981, EBI-2603996;
CC Q969E8; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-746981, EBI-16439278;
CC Q969E8; O75928: PIAS2; NbExp=3; IntAct=EBI-746981, EBI-348555;
CC Q969E8; O75928-2: PIAS2; NbExp=3; IntAct=EBI-746981, EBI-348567;
CC Q969E8; O43741: PRKAB2; NbExp=3; IntAct=EBI-746981, EBI-1053424;
CC Q969E8; Q6GMV3: PTRHD1; NbExp=3; IntAct=EBI-746981, EBI-12807218;
CC Q969E8; Q5RL73: RBM48; NbExp=3; IntAct=EBI-746981, EBI-473821;
CC Q969E8; P62854: RPS26; NbExp=16; IntAct=EBI-746981, EBI-353438;
CC Q969E8; Q9H0A9-2: SPATC1L; NbExp=3; IntAct=EBI-746981, EBI-11995806;
CC Q969E8; Q96C00: ZBTB9; NbExp=6; IntAct=EBI-746981, EBI-395708;
CC Q969E8; Q6S9Z5: ZNF474; NbExp=3; IntAct=EBI-746981, EBI-17269964;
CC Q969E8; Q6ZNG0: ZNF620; NbExp=3; IntAct=EBI-746981, EBI-4395669;
CC -!- DISEASE: Diamond-Blackfan anemia 14, with mandibulofacial dysostosis
CC (DBA14) [MIM:300946]: A form of Diamond-Blackfan anemia, a congenital
CC non-regenerative hypoplastic anemia that usually presents early in
CC infancy. Diamond-Blackfan anemia is characterized by a moderate to
CC severe macrocytic anemia, erythroblastopenia, and an increased risk of
CC malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with
CC short stature and congenital anomalies, the most frequent being
CC craniofacial (Pierre-Robin syndrome and cleft palate), thumb and
CC urogenital anomalies. {ECO:0000269|PubMed:24942156}. Note=The disease
CC is caused by variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the TSR2 family. {ECO:0000305}.
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DR EMBL; Z85987; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC007699; AAH07699.1; -; mRNA.
DR EMBL; BC011825; AAH11825.1; -; mRNA.
DR CCDS; CCDS14358.1; -.
DR RefSeq; NP_477511.1; NM_058163.2.
DR AlphaFoldDB; Q969E8; -.
DR SMR; Q969E8; -.
DR BioGRID; 124665; 33.
DR IntAct; Q969E8; 27.
DR MINT; Q969E8; -.
DR STRING; 9606.ENSP00000364293; -.
DR GlyGen; Q969E8; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q969E8; -.
DR PhosphoSitePlus; Q969E8; -.
DR SwissPalm; Q969E8; -.
DR BioMuta; TSR2; -.
DR DMDM; 74760678; -.
DR EPD; Q969E8; -.
DR jPOST; Q969E8; -.
DR MassIVE; Q969E8; -.
DR MaxQB; Q969E8; -.
DR PaxDb; Q969E8; -.
DR PeptideAtlas; Q969E8; -.
DR PRIDE; Q969E8; -.
DR ProteomicsDB; 75745; -.
DR TopDownProteomics; Q969E8; -.
DR Antibodypedia; 26781; 75 antibodies from 18 providers.
DR DNASU; 90121; -.
DR Ensembl; ENST00000375151.5; ENSP00000364293.4; ENSG00000158526.8.
DR GeneID; 90121; -.
DR KEGG; hsa:90121; -.
DR MANE-Select; ENST00000375151.5; ENSP00000364293.4; NM_058163.3; NP_477511.1.
DR UCSC; uc004dte.5; human.
DR CTD; 90121; -.
DR DisGeNET; 90121; -.
DR GeneCards; TSR2; -.
DR GeneReviews; TSR2; -.
DR HGNC; HGNC:25455; TSR2.
DR HPA; ENSG00000158526; Low tissue specificity.
DR MalaCards; TSR2; -.
DR MIM; 300945; gene.
DR MIM; 300946; phenotype.
DR neXtProt; NX_Q969E8; -.
DR OpenTargets; ENSG00000158526; -.
DR Orphanet; 124; Blackfan-Diamond anemia.
DR PharmGKB; PA145147877; -.
DR VEuPathDB; HostDB:ENSG00000158526; -.
DR eggNOG; KOG4032; Eukaryota.
DR GeneTree; ENSGT00390000012692; -.
DR HOGENOM; CLU_074896_2_0_1; -.
DR InParanoid; Q969E8; -.
DR OMA; IEIMDYT; -.
DR OrthoDB; 1401913at2759; -.
DR PhylomeDB; Q969E8; -.
DR TreeFam; TF314018; -.
DR PathwayCommons; Q969E8; -.
DR SignaLink; Q969E8; -.
DR BioGRID-ORCS; 90121; 431 hits in 690 CRISPR screens.
DR ChiTaRS; TSR2; human.
DR GenomeRNAi; 90121; -.
DR Pharos; Q969E8; Tbio.
DR PRO; PR:Q969E8; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q969E8; protein.
DR Bgee; ENSG00000158526; Expressed in tendon of biceps brachii and 220 other tissues.
DR ExpressionAtlas; Q969E8; baseline and differential.
DR Genevisible; Q969E8; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000462; P:maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); IBA:GO_Central.
DR InterPro; IPR019398; Pre-rRNA_process_TSR2.
DR PANTHER; PTHR21250; PTHR21250; 1.
DR Pfam; PF10273; WGG; 1.
PE 1: Evidence at protein level;
KW Diamond-Blackfan anemia; Disease variant; Reference proteome;
KW rRNA processing.
FT CHAIN 1..190
FT /note="Pre-rRNA-processing protein TSR2 homolog"
FT /id="PRO_0000285587"
FT REGION 149..172
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 64
FT /note="E -> G (in DBA14; dbSNP:rs786203996)"
FT /evidence="ECO:0000269|PubMed:24942156"
FT /id="VAR_073396"
SQ SEQUENCE 191 AA; 20894 MW; F4B699EC7F7722B3 CRC64;
MAGAAEDARA LFRAGVCAAL EAWPALQIAV ENGFGGVHSQ EKAKWLGGAV EDYFMRNADL
ELDEVEDFLG ELLTNEFDTV VEDGSLPQVS QQLQTMFHHF QRGDGAALRE MASCITQRKC
KVTATALKTA RETDEDEDDV DSVEEMEVTA TNDGAATDGV CPQPEPSDPD AQTIKEEDIV
EDGWTIVRRK K
