TBL3 (transducin beta like 3)

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Gene Gene information from NCBI Gene database.
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Entrez ID 10607
Gene name Transducin beta like 3
Gene symbol TBL3
Synonyms (NCBI Gene)
SAZDUTP13
Chromosome 16
Chromosome location 16p13.3
Summary The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate prot
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT025548 hsa-miR-34a-5p Proteomics 21566225
MIRT025548 hsa-miR-34a-5p Proteomics 21566225
MIRT031975 hsa-miR-16-5p Proteomics 18668040
MIRT715806 hsa-miR-4722-3p HITS-CLIP 19536157
MIRT715805 hsa-miR-6727-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0000472 Process Endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
GO:0000480 Process Endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 16189514, 25416956
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
605915 11587 ENSG00000183751
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12788
Protein name Transducin beta-like protein 3 (WD repeat-containing protein SAZD)
Protein function Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associat
PDB 7MQ8 , 7MQ9 , 7MQA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 185 → 223 WD domain, G-beta repeat Repeat
PF00400 WD40 511 → 548 WD domain, G-beta repeat Repeat
PF00400 WD40 469 → 506 WD domain, G-beta repeat Repeat
PF00400 WD40 553 → 591 WD domain, G-beta repeat Repeat
PF00400 WD40 98 → 137 WD domain, G-beta repeat Repeat
PF00400 WD40 412 → 449 WD domain, G-beta repeat Repeat
PF00400 WD40 366 → 404 WD domain, G-beta repeat Repeat
PF00400 WD40 595 → 633 WD domain, G-beta repeat Repeat
PF08625 Utp13 654 → 788 Utp13 specific WD40 associated domain Domain
Sequence 
MAETAAGVGRFKTNYAVERKIEPFYKGGKAQLDQTGQHLFCVCGTRVNILEVASGAVLRS
LEQEDQEDITAFDLSPDNEVLVTASRALLLAQWAWQEGSVTRLWKAIHTAPVATMAFDPT
STLLATGGCDGAVRVWDIVRHYGTHHFRGSPGVVHLVAFHPDPTRLLLFSSATDAAIRVW
SLQDRSCLAVLTAHYSAVTSLAFSADGHTMLSSGRDKICIIWDLQSCQATRTVPVFESVE
AAVLLPEEPVSQLGVKSPGLYFLTAGDQGTLRVWEAASGQCVYTQAQPPGPGQELTHCTL
AHTAGVVLTATADHNLLLYEARSLRLQKQFAGYSEEVLDVRFLGPEDSHVVVASNSPCLK
VFELQTSACQILHGHTDIVLALDVFRKGWLFASCAKDQSVRIWRMNKAGQVMCVAQGSGH
THSVGTVCCSRLKESFLVTGSQDCTVKLWPLPKALLSKNTAPDNGPILLQAQTTQRCHDK
DINSVAIAPNDKLLATGSQDRTAKLWALPQCQLLGVFSGHRRGLWCVQFSPMDQVLATAS
ADGTIKLWALQDFSCLKTFEGHDASVLKVAFVSRGTQLLSSGSDGLVKLWTIKNNECVRT
LDAHEDKVWGLHCSRLDDHALTGASDSRVILWKDVTEAEQAEEQARQEEQVVRQQELDNL
LHEKRYLRALGLAISLDRPHTVLTVIQAIRRDPEACEKLEATMLRLRRDQKEALLRFCVT
WNTNSRHCHEAQAVLGVLLRREAPEELLAYEGVRAALEALLPYTERHFQRLSRTLQAAAF
LDFLWHNMKLPVPAAAPTPWETHKGALP
Sequence length 808
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Ribosome biogenesis in eukaryotes 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.).
1
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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 Reference Evidence Score
Malignant tumor of urinary bladder Benign 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
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 35601016 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Sepsis Sepsis Pubtator 39438952 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
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RCL1 2 shared pathwaysRibosome biogenesis in eukaryotes, Major pathway of rRNA processing in the nucleolus and cytosol Related via 2 shared pathways including Ribosome biogenesis in eukaryotes, Major pathway of rRNA processing in the nucleolus and cytosol. MPHOSPH10 2 shared pathwaysRibosome biogenesis in eukaryotes, Major pathway of rRNA processing in the nucleolus and cytosol Related via 2 shared pathways including Ribosome biogenesis in eukaryotes, Major pathway of rRNA processing in the nucleolus and cytosol. EMG1 2 shared pathwaysRibosome biogenesis in eukaryotes, Major pathway of rRNA processing in the nucleolus and cytosol Related via 2 shared pathways including Ribosome biogenesis in eukaryotes, Major pathway of rRNA processing in the nucleolus and cytosol. UTP14A 2 shared pathwaysRibosome biogenesis in eukaryotes, Major pathway of rRNA processing in the nucleolus and cytosol Related via 2 shared pathways including Ribosome biogenesis in eukaryotes, Major pathway of rRNA processing in the nucleolus and cytosol. WDR3 2 shared pathwaysRibosome biogenesis in eukaryotes, Major pathway of rRNA processing in the nucleolus and cytosol Related via 2 shared pathways including Ribosome biogenesis in eukaryotes, Major pathway of rRNA processing in the nucleolus and cytosol.
Alzheimer disease Linked via 1 of 5 related genesRCL1 Bipolar disorder Linked via 1 of 5 related genesRCL1 Dementia Linked via 1 of 5 related genesRCL1 Major depressive disorder Linked via 1 of 5 related genesRCL1 Nasopharyngeal neoplasms Linked via 1 of 5 related genesRCL1