Gene Gene information from NCBI Gene database.
Entrez ID 9733
Gene name Spliceosome associated factor 3, U4/U6 recycling protein
Gene symbol SART3
Synonyms (NCBI Gene)
DSAP1P100RP11-13G14TIP110p110p110(nrb)
Chromosome 12
Chromosome location 12q23.3
Summary The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be use
miRNA miRNA information provided by mirtarbase database.
301
miRTarBase ID miRNA Experiments Reference
MIRT051408 hsa-let-7f-5p CLASH 23622248
MIRT049146 hsa-miR-92a-3p CLASH 23622248
MIRT046568 hsa-let-7g-5p CLASH 23622248
MIRT043962 hsa-miR-378a-5p CLASH 23622248
MIRT552236 hsa-miR-548c-3p PAR-CLIP 21572407
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MYC Unknown 21447833
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0000244 Process Spliceosomal tri-snRNP complex assembly IDA 12032085, 20595234
GO:0000387 Process Spliceosomal snRNP assembly IDA 15314151
GO:0000387 Process Spliceosomal snRNP assembly IDA 14749385, 15314151
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IDA 15314151
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611684 16860 ENSG00000075856
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15020
Protein name Spliceosome associated factor 3, U4/U6 recycling protein (Squamous cell carcinoma antigen recognized by T-cells 3) (SART-3) (Tat-interacting protein of 110 kDa) (Tip110) (p110 nuclear RNA-binding protein)
Protein function U6 snRNP-binding protein that functions as a recycling factor of the splicing machinery. Promotes the initial reassembly of U4 and U6 snRNPs following their ejection from the spliceosome during its maturation (PubMed:12032085). Also binds U6atac
PDB 2DO4 , 5CTQ , 5CTR , 5CTT , 5JJW , 5JJX , 5JPZ , 7XX8 , 7XX9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 706 775 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 803 872 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF16605 LSM_int_assoc 877 938 Disordered
PF05391 Lsm_interact 944 962 Lsm interaction motif Motif
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:11959860}.
Sequence
MATAAETSASEPEAESKAGPKADGEEDEVKAARTRRKVLSRAVAAATYKTMGPAWDQQEE
GVSESDGDEYAMASSAESSPGEYEWEYDEEEEKNQLEIERLEEQLSINVYDYNCHVDLIR
LLRLEGELTKVRMARQKMSEIFPLTEELWLEWLHDEISMAQDGLDREHVYDLFEKAVKDY
ICPNIWLEYGQYSVGGIGQKGGLEKVRSVFERALSSVGLHMTKGLALWEAYREFESAIVE
AARLEKVHSLFRRQLAIPLYDMEATFAEYEEWSEDPIPESVIQNYNKALQQLEKYKPYEE
ALLQAEAPRLAEYQAYIDFEMKIGDPARIQLIFERALVENCLVPDLWIRYSQYLDRQLKV
KDLVLSVHNRAIRNCPWTVALWSRYLLAMERHGVDHQVISVTFEKALNAGFIQATDYVEI
WQAYLDYLRRRVDFKQDSSKELEELRAAFTRALEYLKQEVEERFNESGDPSCVIMQNWAR
IEARLCNNMQKARELWDSIMTRGNAKYANMWLEYYNLERAHGDTQHCRKALHRAVQCTSD
YPEHVCEVLLTMERTEGSLEDWDIAVQKTETRLARVNEQRMKAAEKEAALVQQEEEKAEQ
RKRARAEKKALKKKKKIRGPEKRGADEDDEKEWGDDEEEQPSKRRRVENSIPAAGETQNV
EVAAGPAGKCAAVDVEPPSKQKEKAASLKRDMPKVLHDSSKDSITVFVSNLPYSMQEPDT
KLRPLFEACGEVVQIRPIFSNRGDFRGYCYVEFKEEKSALQALEMDRKSVEGRPM
FVSPC
VDKSKNPDFKVFRYSTSLEKHKLFISGLPFSCTKEELEEICKAHGTVKDLRLVTNRAGKP
KGLAYVEYENESQASQAVMKMDGMTIKENIIK
VAISNPPQRKVPEKPETRKAPGGPMLLP
QTYGARGKGRTQLSLLPRALQRPSAAAPQAENGPAAAP
AVAAPAATEAPKMSNADFAKLF
LR
K
Sequence length 963
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
9
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis Likely pathogenic rs1360428152, rs747354165, rs779659299, rs759058288, rs1377925264, rs2540753340, rs2540734022, rs2540742712 RCV003236672
RCV003236673
RCV003236674
RCV003236675
RCV003236676
RCV003236677
RCV003236678
RCV003236679
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Porokeratosis 3, disseminated superficial actinic type Uncertain significance rs118203954 RCV000000897
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 11286471, 25990212
Carcinoma Hepatocellular Associate 37632835
Carcinoma Non Small Cell Lung Associate 31619517
Choline Deficiency Inhibit 15147518
Colonic Neoplasms Associate 11920522
Colorectal Neoplasms Associate 11920522
Drug Hypersensitivity Inhibit 29590477
Esophageal Neoplasms Associate 11402621
Glioma Inhibit 26047657
Histiocytic Sarcoma Associate 11398844