Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9733
Gene name Gene Name - the full gene name approved by the HGNC.
Spliceosome associated factor 3, U4/U6 recycling protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SART3
Synonyms (NCBI Gene) Gene synonyms aliases
DSAP1, P100, RP11-13G14, TIP110, p110, p110(nrb)
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 factor Regulation Reference
MYC Unknown 21447833
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611684 16860 ENSG00000075856
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Disseminated Superficial Actinic Porokeratosis disseminated superficial actinic porokeratosis N/A N/A GenCC
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Porokeratosis Porokeratosis 3, disseminated superficial actinic type N/A N/A ClinVar
Associations from Text Mining Disease 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