SART3 (spliceosome associated factor 3, U4/U6 recycling protein)

Gene

• Entrez ID: 9733
• Gene name: Spliceosome associated factor 3, U4/U6 recycling protein
• Gene symbol: SART3
• Synonyms (NCBI Gene): DSAP1, P100, RP11-13G14, TIP110, p110, p110(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

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
MIRT552235	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT552234	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT552233	hsa-miR-6856-3p	PAR-CLIP	21572407
MIRT552232	hsa-miR-4323	PAR-CLIP	21572407
MIRT552231	hsa-miR-3163	PAR-CLIP	21572407
MIRT552229	hsa-miR-5692b	PAR-CLIP	21572407
MIRT552230	hsa-miR-5692c	PAR-CLIP	21572407
MIRT552228	hsa-miR-3189-5p	PAR-CLIP	21572407
MIRT552236	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT552235	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT552234	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT552233	hsa-miR-6856-3p	PAR-CLIP	21572407
MIRT552232	hsa-miR-4323	PAR-CLIP	21572407
MIRT552231	hsa-miR-3163	PAR-CLIP	21572407
MIRT552229	hsa-miR-5692b	PAR-CLIP	21572407
MIRT552230	hsa-miR-5692c	PAR-CLIP	21572407
MIRT552228	hsa-miR-3189-5p	PAR-CLIP	21572407
MIRT1326377	hsa-miR-1203	CLIP-seq
MIRT1326378	hsa-miR-1260	CLIP-seq
MIRT1326379	hsa-miR-1260b	CLIP-seq
MIRT1326380	hsa-miR-1284	CLIP-seq
MIRT1326381	hsa-miR-1305	CLIP-seq
MIRT1326382	hsa-miR-132	CLIP-seq
MIRT1326383	hsa-miR-188-3p	CLIP-seq
MIRT1326384	hsa-miR-193a-3p	CLIP-seq
MIRT1326385	hsa-miR-193b	CLIP-seq
MIRT1326386	hsa-miR-212	CLIP-seq
MIRT1326387	hsa-miR-214	CLIP-seq
MIRT1326388	hsa-miR-219-1-3p	CLIP-seq
MIRT1326389	hsa-miR-300	CLIP-seq
MIRT1326390	hsa-miR-3150b-3p	CLIP-seq
MIRT1326391	hsa-miR-3156-3p	CLIP-seq
MIRT1326392	hsa-miR-330-3p	CLIP-seq
MIRT1326393	hsa-miR-337-3p	CLIP-seq
MIRT1326394	hsa-miR-3545-3p	CLIP-seq
MIRT1326395	hsa-miR-3619-5p	CLIP-seq
MIRT1326396	hsa-miR-3646	CLIP-seq
MIRT1326397	hsa-miR-3665	CLIP-seq
MIRT1326398	hsa-miR-381	CLIP-seq
MIRT1326399	hsa-miR-3926	CLIP-seq
MIRT1326400	hsa-miR-3938	CLIP-seq
MIRT1326401	hsa-miR-4422	CLIP-seq
MIRT1326402	hsa-miR-4435	CLIP-seq
MIRT1326403	hsa-miR-4487	CLIP-seq
MIRT1326404	hsa-miR-4520a-3p	CLIP-seq
MIRT1326405	hsa-miR-4520b-3p	CLIP-seq
MIRT1326406	hsa-miR-4529-3p	CLIP-seq
MIRT1326407	hsa-miR-4539	CLIP-seq
MIRT1326408	hsa-miR-455-3p	CLIP-seq
MIRT1326409	hsa-miR-4666-3p	CLIP-seq
MIRT1326410	hsa-miR-4677-3p	CLIP-seq
MIRT1326411	hsa-miR-4679	CLIP-seq
MIRT1326412	hsa-miR-4689	CLIP-seq
MIRT1326413	hsa-miR-4711-3p	CLIP-seq
MIRT1326414	hsa-miR-4719	CLIP-seq
MIRT1326415	hsa-miR-4724-5p	CLIP-seq
MIRT1326416	hsa-miR-4743	CLIP-seq
MIRT1326417	hsa-miR-4778-5p	CLIP-seq
MIRT1326418	hsa-miR-4784	CLIP-seq
MIRT1326419	hsa-miR-494	CLIP-seq
MIRT1326420	hsa-miR-548ae	CLIP-seq
MIRT1326421	hsa-miR-548aj	CLIP-seq
MIRT1326422	hsa-miR-548am	CLIP-seq
MIRT1326423	hsa-miR-548s	CLIP-seq
MIRT1326424	hsa-miR-548x	CLIP-seq
MIRT1326425	hsa-miR-549	CLIP-seq
MIRT1326426	hsa-miR-570	CLIP-seq
MIRT1326427	hsa-miR-577	CLIP-seq
MIRT1326428	hsa-miR-607	CLIP-seq
MIRT1326429	hsa-miR-617	CLIP-seq
MIRT1326430	hsa-miR-624	CLIP-seq
MIRT1326431	hsa-miR-642a	CLIP-seq
MIRT1326432	hsa-miR-662	CLIP-seq
MIRT1326433	hsa-miR-761	CLIP-seq
MIRT1326434	hsa-miR-892a	CLIP-seq
MIRT2096884	hsa-miR-1207-3p	CLIP-seq
MIRT1326382	hsa-miR-132	CLIP-seq
MIRT2096885	hsa-miR-1825	CLIP-seq
MIRT2096886	hsa-miR-1911	CLIP-seq
MIRT1326384	hsa-miR-193a-3p	CLIP-seq
MIRT1326385	hsa-miR-193b	CLIP-seq
MIRT2096887	hsa-miR-2052	CLIP-seq
MIRT1326386	hsa-miR-212	CLIP-seq
MIRT1326387	hsa-miR-214	CLIP-seq
MIRT2096888	hsa-miR-223	CLIP-seq
MIRT2096889	hsa-miR-297	CLIP-seq
MIRT2096890	hsa-miR-3126-5p	CLIP-seq
MIRT2096891	hsa-miR-3140-3p	CLIP-seq
MIRT2096892	hsa-miR-3150a-3p	CLIP-seq
MIRT2096893	hsa-miR-3175	CLIP-seq
MIRT2096894	hsa-miR-320a	CLIP-seq
MIRT2096895	hsa-miR-320b	CLIP-seq
MIRT2096896	hsa-miR-320c	CLIP-seq
MIRT2096897	hsa-miR-320d	CLIP-seq
MIRT2096898	hsa-miR-33a	CLIP-seq
MIRT2096899	hsa-miR-33b	CLIP-seq
MIRT1326394	hsa-miR-3545-3p	CLIP-seq
MIRT2096900	hsa-miR-3545-5p	CLIP-seq
MIRT2096901	hsa-miR-3609	CLIP-seq
MIRT2096902	hsa-miR-3613-3p	CLIP-seq
MIRT2096903	hsa-miR-3616-5p	CLIP-seq
MIRT1326395	hsa-miR-3619-5p	CLIP-seq
MIRT2096904	hsa-miR-3647-5p	CLIP-seq
MIRT1326397	hsa-miR-3665	CLIP-seq
MIRT2096905	hsa-miR-3925-5p	CLIP-seq
MIRT1326399	hsa-miR-3926	CLIP-seq
MIRT2096906	hsa-miR-3973	CLIP-seq
MIRT2096907	hsa-miR-4252	CLIP-seq
MIRT2096908	hsa-miR-4290	CLIP-seq
MIRT2096909	hsa-miR-4291	CLIP-seq
MIRT2096910	hsa-miR-4302	CLIP-seq
MIRT2096911	hsa-miR-4328	CLIP-seq
MIRT2096912	hsa-miR-4419a	CLIP-seq
MIRT2096913	hsa-miR-4429	CLIP-seq
MIRT2096914	hsa-miR-4501	CLIP-seq
MIRT2096915	hsa-miR-4510	CLIP-seq
MIRT2096916	hsa-miR-4517	CLIP-seq
MIRT2096917	hsa-miR-451b	CLIP-seq
MIRT1326408	hsa-miR-455-3p	CLIP-seq
MIRT2096918	hsa-miR-4670-3p	CLIP-seq
MIRT2096919	hsa-miR-4682	CLIP-seq
MIRT2096920	hsa-miR-4694-3p	CLIP-seq
MIRT1326414	hsa-miR-4719	CLIP-seq
MIRT2096921	hsa-miR-4727-5p	CLIP-seq
MIRT2096922	hsa-miR-4738-3p	CLIP-seq
MIRT2096923	hsa-miR-4742-3p	CLIP-seq
MIRT2096924	hsa-miR-4769-3p	CLIP-seq
MIRT1326417	hsa-miR-4778-5p	CLIP-seq
MIRT2096925	hsa-miR-4793-5p	CLIP-seq
MIRT2096926	hsa-miR-520g	CLIP-seq
MIRT2096927	hsa-miR-520h	CLIP-seq
MIRT2096928	hsa-miR-522	CLIP-seq
MIRT2096929	hsa-miR-544	CLIP-seq
MIRT2096930	hsa-miR-545	CLIP-seq
MIRT2096931	hsa-miR-548ah	CLIP-seq
MIRT1326423	hsa-miR-548s	CLIP-seq
MIRT2096932	hsa-miR-567	CLIP-seq
MIRT1326426	hsa-miR-570	CLIP-seq
MIRT2096933	hsa-miR-573	CLIP-seq
MIRT1326433	hsa-miR-761	CLIP-seq
MIRT2096934	hsa-miR-939	CLIP-seq
MIRT2321228	hsa-miR-1257	CLIP-seq
MIRT2321229	hsa-miR-3120-5p	CLIP-seq
MIRT2096890	hsa-miR-3126-5p	CLIP-seq
MIRT2321230	hsa-miR-3618	CLIP-seq
MIRT2096908	hsa-miR-4290	CLIP-seq
MIRT2096912	hsa-miR-4419a	CLIP-seq
MIRT2096915	hsa-miR-4510	CLIP-seq
MIRT2096916	hsa-miR-4517	CLIP-seq
MIRT2321231	hsa-miR-452	CLIP-seq
MIRT2321232	hsa-miR-4661-5p	CLIP-seq
MIRT2321233	hsa-miR-4676-3p	CLIP-seq
MIRT1326410	hsa-miR-4677-3p	CLIP-seq
MIRT1326411	hsa-miR-4679	CLIP-seq
MIRT2321234	hsa-miR-4693-5p	CLIP-seq
MIRT2096922	hsa-miR-4738-3p	CLIP-seq
MIRT1326417	hsa-miR-4778-5p	CLIP-seq
MIRT2321235	hsa-miR-550a	CLIP-seq
MIRT2321236	hsa-miR-934	CLIP-seq
MIRT2096890	hsa-miR-3126-5p	CLIP-seq
MIRT2096908	hsa-miR-4290	CLIP-seq
MIRT2096912	hsa-miR-4419a	CLIP-seq
MIRT2096915	hsa-miR-4510	CLIP-seq
MIRT2096916	hsa-miR-4517	CLIP-seq
MIRT2321228	hsa-miR-1257	CLIP-seq
MIRT2617383	hsa-miR-1273g	CLIP-seq
MIRT1326380	hsa-miR-1284	CLIP-seq
MIRT1326382	hsa-miR-132	CLIP-seq
MIRT2617384	hsa-miR-1323	CLIP-seq
MIRT2617385	hsa-miR-151-5p	CLIP-seq
MIRT2617386	hsa-miR-151b	CLIP-seq
MIRT2617387	hsa-miR-1909	CLIP-seq
MIRT2096886	hsa-miR-1911	CLIP-seq
MIRT2096887	hsa-miR-2052	CLIP-seq
MIRT1326386	hsa-miR-212	CLIP-seq
MIRT1326387	hsa-miR-214	CLIP-seq
MIRT2096888	hsa-miR-223	CLIP-seq
MIRT1326389	hsa-miR-300	CLIP-seq
MIRT2321229	hsa-miR-3120-5p	CLIP-seq
MIRT2096890	hsa-miR-3126-5p	CLIP-seq
MIRT2617388	hsa-miR-3127-3p	CLIP-seq
MIRT2096891	hsa-miR-3140-3p	CLIP-seq
MIRT2617389	hsa-miR-3190	CLIP-seq
MIRT2617390	hsa-miR-3200-5p	CLIP-seq
MIRT1326393	hsa-miR-337-3p	CLIP-seq
MIRT2617391	hsa-miR-338-3p	CLIP-seq
MIRT1326395	hsa-miR-3619-5p	CLIP-seq
MIRT1326397	hsa-miR-3665	CLIP-seq
MIRT1326398	hsa-miR-381	CLIP-seq
MIRT2096905	hsa-miR-3925-5p	CLIP-seq
MIRT2617392	hsa-miR-3944-5p	CLIP-seq
MIRT2617393	hsa-miR-409-3p	CLIP-seq
MIRT2096907	hsa-miR-4252	CLIP-seq
MIRT2096908	hsa-miR-4290	CLIP-seq
MIRT2096909	hsa-miR-4291	CLIP-seq
MIRT2617394	hsa-miR-4307	CLIP-seq
MIRT2096911	hsa-miR-4328	CLIP-seq
MIRT2096912	hsa-miR-4419a	CLIP-seq
MIRT2617395	hsa-miR-4509	CLIP-seq
MIRT2096915	hsa-miR-4510	CLIP-seq
MIRT2096916	hsa-miR-4517	CLIP-seq
MIRT2096917	hsa-miR-451b	CLIP-seq
MIRT2617396	hsa-miR-4530	CLIP-seq
MIRT1326408	hsa-miR-455-3p	CLIP-seq
MIRT2617397	hsa-miR-4650-5p	CLIP-seq
MIRT2617398	hsa-miR-4652-3p	CLIP-seq
MIRT1326409	hsa-miR-4666-3p	CLIP-seq
MIRT1326410	hsa-miR-4677-3p	CLIP-seq
MIRT1326411	hsa-miR-4679	CLIP-seq
MIRT2096919	hsa-miR-4682	CLIP-seq
MIRT2617399	hsa-miR-4684-3p	CLIP-seq
MIRT2617400	hsa-miR-4709-3p	CLIP-seq
MIRT1326414	hsa-miR-4719	CLIP-seq
MIRT2617401	hsa-miR-4729	CLIP-seq
MIRT2617402	hsa-miR-4733-3p	CLIP-seq
MIRT2617403	hsa-miR-4737	CLIP-seq
MIRT2096922	hsa-miR-4738-3p	CLIP-seq
MIRT2617404	hsa-miR-4744	CLIP-seq
MIRT2617405	hsa-miR-4766-5p	CLIP-seq
MIRT1326417	hsa-miR-4778-5p	CLIP-seq
MIRT2617406	hsa-miR-488	CLIP-seq
MIRT2617407	hsa-miR-508-5p	CLIP-seq
MIRT2617408	hsa-miR-518a-5p	CLIP-seq
MIRT2617409	hsa-miR-520d-5p	CLIP-seq
MIRT2617410	hsa-miR-524-5p	CLIP-seq
MIRT2617411	hsa-miR-527	CLIP-seq
MIRT2096930	hsa-miR-545	CLIP-seq
MIRT2617412	hsa-miR-548o	CLIP-seq
MIRT1326426	hsa-miR-570	CLIP-seq
MIRT2617413	hsa-miR-616	CLIP-seq
MIRT1326429	hsa-miR-617	CLIP-seq
MIRT1326431	hsa-miR-642a	CLIP-seq
MIRT2617414	hsa-miR-7	CLIP-seq
MIRT1326433	hsa-miR-761	CLIP-seq
MIRT2617415	hsa-miR-766	CLIP-seq
MIRT2617383	hsa-miR-1273g	CLIP-seq
MIRT1326380	hsa-miR-1284	CLIP-seq
MIRT1326382	hsa-miR-132	CLIP-seq
MIRT2617384	hsa-miR-1323	CLIP-seq
MIRT2617385	hsa-miR-151-5p	CLIP-seq
MIRT2617386	hsa-miR-151b	CLIP-seq
MIRT2617387	hsa-miR-1909	CLIP-seq
MIRT2096886	hsa-miR-1911	CLIP-seq
MIRT2096887	hsa-miR-2052	CLIP-seq
MIRT1326386	hsa-miR-212	CLIP-seq
MIRT1326387	hsa-miR-214	CLIP-seq
MIRT1326389	hsa-miR-300	CLIP-seq
MIRT2321229	hsa-miR-3120-5p	CLIP-seq
MIRT2096890	hsa-miR-3126-5p	CLIP-seq
MIRT2617388	hsa-miR-3127-3p	CLIP-seq
MIRT2617389	hsa-miR-3190	CLIP-seq
MIRT2617390	hsa-miR-3200-5p	CLIP-seq
MIRT1326393	hsa-miR-337-3p	CLIP-seq
MIRT2617391	hsa-miR-338-3p	CLIP-seq
MIRT1326395	hsa-miR-3619-5p	CLIP-seq
MIRT1326397	hsa-miR-3665	CLIP-seq
MIRT1326398	hsa-miR-381	CLIP-seq
MIRT2617392	hsa-miR-3944-5p	CLIP-seq
MIRT2096907	hsa-miR-4252	CLIP-seq
MIRT2096908	hsa-miR-4290	CLIP-seq
MIRT2096909	hsa-miR-4291	CLIP-seq
MIRT2617394	hsa-miR-4307	CLIP-seq
MIRT2096912	hsa-miR-4419a	CLIP-seq
MIRT2617395	hsa-miR-4509	CLIP-seq
MIRT2096915	hsa-miR-4510	CLIP-seq
MIRT2096916	hsa-miR-4517	CLIP-seq
MIRT2096917	hsa-miR-451b	CLIP-seq
MIRT2617396	hsa-miR-4530	CLIP-seq
MIRT1326408	hsa-miR-455-3p	CLIP-seq
MIRT2617397	hsa-miR-4650-5p	CLIP-seq
MIRT2617398	hsa-miR-4652-3p	CLIP-seq
MIRT1326409	hsa-miR-4666-3p	CLIP-seq
MIRT1326410	hsa-miR-4677-3p	CLIP-seq
MIRT1326411	hsa-miR-4679	CLIP-seq
MIRT2096919	hsa-miR-4682	CLIP-seq
MIRT1326414	hsa-miR-4719	CLIP-seq
MIRT2617401	hsa-miR-4729	CLIP-seq
MIRT2617402	hsa-miR-4733-3p	CLIP-seq
MIRT2617403	hsa-miR-4737	CLIP-seq
MIRT2096922	hsa-miR-4738-3p	CLIP-seq
MIRT2617404	hsa-miR-4744	CLIP-seq
MIRT2617405	hsa-miR-4766-5p	CLIP-seq
MIRT1326417	hsa-miR-4778-5p	CLIP-seq
MIRT2617406	hsa-miR-488	CLIP-seq
MIRT2617407	hsa-miR-508-5p	CLIP-seq
MIRT2617409	hsa-miR-520d-5p	CLIP-seq
MIRT2617410	hsa-miR-524-5p	CLIP-seq
MIRT2096930	hsa-miR-545	CLIP-seq
MIRT2617412	hsa-miR-548o	CLIP-seq
MIRT1326426	hsa-miR-570	CLIP-seq
MIRT2617413	hsa-miR-616	CLIP-seq
MIRT1326429	hsa-miR-617	CLIP-seq
MIRT1326431	hsa-miR-642a	CLIP-seq
MIRT2617414	hsa-miR-7	CLIP-seq
MIRT1326433	hsa-miR-761	CLIP-seq
MIRT2617415	hsa-miR-766	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MYC	Unknown	21447833

Gene ontology (GO)

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
GO:0000902	Process	Cell morphogenesis	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	11477570, 15314151, 16713569, 17932509, 20595234, 25544563, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	32839293
GO:0005634	Component	Nucleus	IDA	24526689
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA	12578909
GO:0005654	Component	Nucleoplasm	IEA
GO:0005691	Component	U6atac snRNP	IDA	14749385
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0006334	Process	Nucleosome assembly	IDA	24526689
GO:0006396	Process	RNA processing	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0010468	Process	Regulation of gene expression	IDA	21447833
GO:0015030	Component	Cajal body	IDA	12578909
GO:0015030	Component	Cajal body	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0017070	Function	U6 snRNA binding	IDA	15314151
GO:0017070	Function	U6 snRNA binding	IDA	12032085, 14749385, 15314151
GO:0030621	Function	U4 snRNA binding	IDA	15314151
GO:0030621	Function	U4 snRNA binding	IDA	12032085, 14749385
GO:0030624	Function	U6atac snRNA binding	IDA	14749385
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	32839293
GO:0042393	Function	Histone binding	IDA	24526689
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IDA	12032085
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0051252	Process	Regulation of RNA metabolic process	IDA	32839293
GO:0051252	Process	Regulation of RNA metabolic process	IDA	32839293
GO:0061574	Component	ASAP complex	IBA
GO:0071001	Component	U4/U6 snRNP	IDA	12032085
GO:0071002	Component	U4atac/U6atac snRNP	IDA	14749385
GO:0071425	Process	Hematopoietic stem cell proliferation	IEA
GO:0140673	Process	Transcription elongation-coupled chromatin remodeling	IDA	24526689
GO:1990381	Function	Ubiquitin-specific protease binding	IPI	20595234, 24526689

Other IDs

• MIM: 611684
• HGNC: 16860
• e!Ensembl: 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
  KLRPLFEACGEVVQIRPIFSNRGDFRGYCYVEFKEEKSALQALEMDRKSVEGRPMFVSPC
  VDKSKNPDFKVFRYSTSLEKHKLFISGLPFSCTKEELEEICKAHGTVKDLRLVTNRAGKP
  KGLAYVEYENESQASQAVMKMDGMTIKENIIKVAISNPPQRKVPEKPETRKAPGGPMLLP
  QTYGARGKGRTQLSLLPRALQRPSAAAPQAENGPAAAPAVAAPAATEAPKMSNADFAKLF
  LRK

• Sequence length: 963

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COMPLEX NEURODEVELOPMENTAL DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis 3, disseminated superficial actinic type	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	8289813		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30415249		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30415249		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	29981961		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31401412		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	19770515		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20130907, 27282497, 28190248, 9681829		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11286471, 25990212	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37632835	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17088996, 31401412		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29159900		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30981733		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	30774762		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27955827		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	11920522	Associate	★☆☆☆☆ Found in Text Mining only
Color blindness	Color Blindness	BEFREE	10447644		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	11920522		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11920522	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28392940		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28392940		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30116745		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28131082		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	20889926, 24418330, 28368397		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	11402621	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	30138396		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26047657	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23439433		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27174919		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	8289813		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28114424, 30798327		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	36789492	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31619517	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10713675		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	10713675		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28190248, 9681829		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29159900		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19148489		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31401412		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11058882, 18794883, 19148489, 19656388, 20022634, 24737887, 25939381, 26112410, 27176780, 28373445, 29590477		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17909068		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19738070, 28096337, 28190248		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30119675		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30119675	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	23239023	Inhibit	★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	23447049		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	11402621	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10713675, 21895410, 23211527, 28789366		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28238799, 30506120, 31172825		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11058882, 12748184, 17942903, 18829572, 19351823, 19738070, 23447049, 24737887, 29159900, 30798327, 31266893		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	7891222		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	31796527		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31619517		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31266893		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	29618326		★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	30506120, 31796527		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	19770515		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	11398844	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32385243	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	20564403		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23239023		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	31284588		★☆☆☆☆ Found in Text Mining only
Porokeratosis	Porokeratosis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Porokeratosis, Disseminated Superficial Actinic	Porokeratosis	BEFREE	15840095, 18443824		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis, Disseminated Superficial Actinic	Porokeratosis	GENOMICS_ENGLAND_DG	15840095		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	19148489		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	20564403		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	11073819		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	11073819	Associate	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	19770515		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	23239023	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	10760694	Associate	★☆☆☆☆ Found in Text Mining only