Gene Gene information from NCBI Gene database.
Entrez ID 55720
Gene name TSR1 ribosome maturation factor
Gene symbol TSR1
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17p13.3
miRNA miRNA information provided by mirtarbase database.
666
miRTarBase ID miRNA Experiments Reference
MIRT021139 hsa-miR-186-5p Sequencing 20371350
MIRT051260 hsa-miR-16-5p CLASH 23622248
MIRT049336 hsa-miR-92a-3p CLASH 23622248
MIRT049336 hsa-miR-92a-3p CLASH 23622248
MIRT047141 hsa-miR-183-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000462 Process Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
GO:0000479 Process Endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
GO:0003723 Function RNA binding HDA 22658674
GO:0003924 Function GTPase activity IBA
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611214 25542 ENSG00000167721
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q2NL82
Protein name Pre-rRNA-processing protein TSR1 homolog
Protein function Required during maturation of the 40S ribosomal subunit in the nucleolus.
PDB 6G18 , 6G4S , 6G4W , 6G51 , 6G53 , 6ZMT , 6ZN5 , 7WTS , 7WTT , 7WTU , 7WTV , 7WTW , 7WTX , 7WTZ , 7WU0 , 8ZDC , 8ZDD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08142 AARP2CN 228 308 AARP2CN (NUC121) domain Domain
PF04950 RIBIOP_C 488 775 40S ribosome biogenesis protein Tsr1 and BMS1 C-terminal Family
Sequence
MAAHRPGPLKQQNKAHKGGRHRGRGSAQRDGKGRLALKTLSKKVRKELSRVDQRHRASQL
RKQKKEAVLAEKRQLGGKDGPPHQVLVVPLHSRISLPEAMQLLQDRDTGTVHLNELGNTQ
NFMLLCPRLKHRWFFTSARPGDLHVVLDMAKVADTILFLLDPLEGWDSTGDYCLSCLFAQ
GLPTYTLAVQGISGLPLKKQIDTRKKLSKAVEKRFPHDKLLLLDTQQEAGMLLRQLANQK
QQHLAFRDRRAYLFAHAVDFVPSEENNLVGTLKISGYVRGQTLNVNRLLHIVGYGDFQMK
QIDAPGDP
FPLNPRGIKPQKDPDMAMEICATDAVDDMEEGLKVLMKADPGRQESLQAEVI
PDPMEGEQTWPTEEELSEAKDFLKESSKVVKKVPKGTSSYQAEWILDGGSQSGGEGDEYE
YDDMEHEDFMEEESQDESSEEEEEYETMTIGESVHDDLYDKKVDEEAEAKMLEKYKQERL
EEMFPDEVDTPRDVAARIRFQKYRGLKSFRTSPWDPKENLPQDYARIFQFQNFTNTRKSI
FKEVEEKEVEGAEVGWYVTLHVSEVPVSVVECFRQGTPLIAFSLLPHEQKMSVLNMVVRR
DPGNTEPVKAKEELIFHCGFRRFRASPLFSQHTAADKHKLQRFLTADMALVATVYAPITF
PPASVLLFKQKSNGMHSLIATGHLMSVDPDRMVIKRVVLSGHPFKIFTKMAVVRYMFFNR
EDVLWFKPVELRTKWGRRGHIKEPLGTHGHMKCSFDGKLKSQDTVLMNLYKRVFP
KWTYD
PYVPEPVPWLKSEISSTVPQGGME
Sequence length 804
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Primary microcephaly Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Coronary Artery Dissection Spontaneous Spontaneous coronary artery dissection Pubtator 31296287 Associate
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 27685442 Associate
★☆☆☆☆
Found in Text Mining only