Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6421
Gene name	Splicing factor proline and glutamine rich
Gene symbol	SFPQ
Synonyms (NCBI Gene)	POMP100PPP1R140PSF
Chromosome	1
Chromosome location	1p34.3

297

Show/Hide all (297)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002310	hsa-miR-29b-3p	ImmunoprecipitaionLuciferase reporter assayWestern blot	17637574
MIRT002309	hsa-miR-141-3p	ImmunoprecipitaionLuciferase reporter assayWestern blot	17637574
MIRT047727	hsa-miR-10a-5p	CLASH	23622248
MIRT043279	hsa-miR-331-3p	CLASH	23622248
MIRT043279	hsa-miR-331-3p	CLASH	23622248
MIRT041361	hsa-miR-193b-3p	CLASH	23622248
MIRT040650	hsa-miR-92b-3p	CLASH	23622248
MIRT040035	hsa-miR-615-3p	CLASH	23622248
MIRT036338	hsa-miR-1229-3p	CLASH	23622248
MIRT554376	hsa-miR-383-5p	PAR-CLIP	21572407
MIRT554375	hsa-miR-5694	PAR-CLIP	21572407
MIRT554374	hsa-miR-6895-5p	PAR-CLIP	21572407
MIRT554373	hsa-miR-7160-3p	PAR-CLIP	21572407
MIRT554372	hsa-miR-4512	PAR-CLIP	21572407
MIRT554371	hsa-miR-5697	PAR-CLIP	21572407
MIRT554370	hsa-miR-6508-3p	PAR-CLIP	21572407
MIRT554369	hsa-miR-1296-5p	PAR-CLIP	21572407
MIRT554368	hsa-miR-1297	PAR-CLIP	21572407
MIRT554367	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT554366	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT554365	hsa-miR-4465	PAR-CLIP	21572407
MIRT554364	hsa-miR-498	PAR-CLIP	21572407
MIRT439658	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439658	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT554376	hsa-miR-383-5p	PAR-CLIP	21572407
MIRT554375	hsa-miR-5694	PAR-CLIP	21572407
MIRT554374	hsa-miR-6895-5p	PAR-CLIP	21572407
MIRT554373	hsa-miR-7160-3p	PAR-CLIP	21572407
MIRT554372	hsa-miR-4512	PAR-CLIP	21572407
MIRT554371	hsa-miR-5697	PAR-CLIP	21572407
MIRT554370	hsa-miR-6508-3p	PAR-CLIP	21572407
MIRT554369	hsa-miR-1296-5p	PAR-CLIP	21572407
MIRT554368	hsa-miR-1297	PAR-CLIP	21572407
MIRT554367	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT554366	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT554365	hsa-miR-4465	PAR-CLIP	21572407
MIRT554364	hsa-miR-498	PAR-CLIP	21572407
MIRT1341822	hsa-miR-101	CLIP-seq
MIRT1341823	hsa-miR-105	CLIP-seq
MIRT1341824	hsa-miR-1226	CLIP-seq
MIRT1341825	hsa-miR-1263	CLIP-seq
MIRT1341826	hsa-miR-127-5p	CLIP-seq
MIRT1341827	hsa-miR-1277	CLIP-seq
MIRT1341828	hsa-miR-1296	CLIP-seq
MIRT1341829	hsa-miR-1305	CLIP-seq
MIRT1341830	hsa-miR-141	CLIP-seq
MIRT1341831	hsa-miR-144	CLIP-seq
MIRT1341832	hsa-miR-153	CLIP-seq
MIRT1341833	hsa-miR-1976	CLIP-seq
MIRT1341834	hsa-miR-200a	CLIP-seq
MIRT1341835	hsa-miR-2110	CLIP-seq
MIRT1341836	hsa-miR-2115	CLIP-seq
MIRT1341837	hsa-miR-217	CLIP-seq
MIRT1341838	hsa-miR-26a	CLIP-seq
MIRT1341839	hsa-miR-26b	CLIP-seq
MIRT1341840	hsa-miR-29a	CLIP-seq
MIRT1341841	hsa-miR-29b	CLIP-seq
MIRT1341842	hsa-miR-29c	CLIP-seq
MIRT1341843	hsa-miR-300	CLIP-seq
MIRT1341844	hsa-miR-3065-5p	CLIP-seq
MIRT1341845	hsa-miR-3126-5p	CLIP-seq
MIRT1341846	hsa-miR-3158-3p	CLIP-seq
MIRT1341847	hsa-miR-3190	CLIP-seq
MIRT1341848	hsa-miR-3662	CLIP-seq
MIRT1341849	hsa-miR-3671	CLIP-seq
MIRT1341850	hsa-miR-3692	CLIP-seq
MIRT1341851	hsa-miR-381	CLIP-seq
MIRT1341852	hsa-miR-3978	CLIP-seq
MIRT1341853	hsa-miR-4271	CLIP-seq
MIRT1341854	hsa-miR-4276	CLIP-seq
MIRT1341855	hsa-miR-4419a	CLIP-seq
MIRT1341856	hsa-miR-4436b-5p	CLIP-seq
MIRT1341857	hsa-miR-4446-3p	CLIP-seq
MIRT1341858	hsa-miR-4457	CLIP-seq
MIRT1341859	hsa-miR-4491	CLIP-seq
MIRT1341860	hsa-miR-4495	CLIP-seq
MIRT1341861	hsa-miR-4510	CLIP-seq
MIRT1341862	hsa-miR-4517	CLIP-seq
MIRT1341863	hsa-miR-4528	CLIP-seq
MIRT1341864	hsa-miR-4657	CLIP-seq
MIRT1341865	hsa-miR-4698	CLIP-seq
MIRT1341866	hsa-miR-4725-3p	CLIP-seq
MIRT1341867	hsa-miR-4729	CLIP-seq
MIRT1341868	hsa-miR-4769-3p	CLIP-seq
MIRT1341869	hsa-miR-4775	CLIP-seq
MIRT1341870	hsa-miR-4789-5p	CLIP-seq
MIRT1341871	hsa-miR-511	CLIP-seq
MIRT1341872	hsa-miR-516a-3p	CLIP-seq
MIRT1341873	hsa-miR-520d-5p	CLIP-seq
MIRT1341874	hsa-miR-524-5p	CLIP-seq
MIRT1341875	hsa-miR-548ac	CLIP-seq
MIRT1341876	hsa-miR-548ae	CLIP-seq
MIRT1341877	hsa-miR-548aj	CLIP-seq
MIRT1341878	hsa-miR-548am	CLIP-seq
MIRT1341879	hsa-miR-548d-3p	CLIP-seq
MIRT1341880	hsa-miR-548n	CLIP-seq
MIRT1341881	hsa-miR-548t	CLIP-seq
MIRT1341882	hsa-miR-548x	CLIP-seq
MIRT1341883	hsa-miR-548z	CLIP-seq
MIRT1341884	hsa-miR-586	CLIP-seq
MIRT1341885	hsa-miR-590-3p	CLIP-seq
MIRT1341886	hsa-miR-600	CLIP-seq
MIRT1341887	hsa-miR-607	CLIP-seq
MIRT1341888	hsa-miR-624	CLIP-seq
MIRT1341889	hsa-miR-660	CLIP-seq
MIRT1341822	hsa-miR-101	CLIP-seq
MIRT2101193	hsa-miR-1200	CLIP-seq
MIRT1341825	hsa-miR-1263	CLIP-seq
MIRT1341827	hsa-miR-1277	CLIP-seq
MIRT1341828	hsa-miR-1296	CLIP-seq
MIRT1341830	hsa-miR-141	CLIP-seq
MIRT1341831	hsa-miR-144	CLIP-seq
MIRT1341833	hsa-miR-1976	CLIP-seq
MIRT1341834	hsa-miR-200a	CLIP-seq
MIRT1341837	hsa-miR-217	CLIP-seq
MIRT1341838	hsa-miR-26a	CLIP-seq
MIRT1341839	hsa-miR-26b	CLIP-seq
MIRT1341845	hsa-miR-3126-5p	CLIP-seq
MIRT2101194	hsa-miR-3140-5p	CLIP-seq
MIRT2101195	hsa-miR-3160-5p	CLIP-seq
MIRT1341847	hsa-miR-3190	CLIP-seq
MIRT1341850	hsa-miR-3692	CLIP-seq
MIRT2101196	hsa-miR-374c	CLIP-seq
MIRT1341852	hsa-miR-3978	CLIP-seq
MIRT1341854	hsa-miR-4276	CLIP-seq
MIRT2101197	hsa-miR-4279	CLIP-seq
MIRT2101198	hsa-miR-4305	CLIP-seq
MIRT1341855	hsa-miR-4419a	CLIP-seq
MIRT1341858	hsa-miR-4457	CLIP-seq
MIRT1341859	hsa-miR-4491	CLIP-seq
MIRT1341861	hsa-miR-4510	CLIP-seq
MIRT1341863	hsa-miR-4528	CLIP-seq
MIRT2101199	hsa-miR-4639-3p	CLIP-seq
MIRT1341864	hsa-miR-4657	CLIP-seq
MIRT2101200	hsa-miR-4699-5p	CLIP-seq
MIRT1341868	hsa-miR-4769-3p	CLIP-seq
MIRT1341869	hsa-miR-4775	CLIP-seq
MIRT1341870	hsa-miR-4789-5p	CLIP-seq
MIRT2101201	hsa-miR-582-5p	CLIP-seq
MIRT1341884	hsa-miR-586	CLIP-seq
MIRT1341885	hsa-miR-590-3p	CLIP-seq
MIRT1341888	hsa-miR-624	CLIP-seq
MIRT2101202	hsa-miR-655	CLIP-seq
MIRT1341889	hsa-miR-660	CLIP-seq
MIRT1341822	hsa-miR-101	CLIP-seq
MIRT2101193	hsa-miR-1200	CLIP-seq
MIRT1341824	hsa-miR-1226	CLIP-seq
MIRT1341825	hsa-miR-1263	CLIP-seq
MIRT1341827	hsa-miR-1277	CLIP-seq
MIRT1341828	hsa-miR-1296	CLIP-seq
MIRT1341829	hsa-miR-1305	CLIP-seq
MIRT1341830	hsa-miR-141	CLIP-seq
MIRT1341831	hsa-miR-144	CLIP-seq
MIRT1341833	hsa-miR-1976	CLIP-seq
MIRT1341834	hsa-miR-200a	CLIP-seq
MIRT1341836	hsa-miR-2115	CLIP-seq
MIRT1341837	hsa-miR-217	CLIP-seq
MIRT1341838	hsa-miR-26a	CLIP-seq
MIRT1341839	hsa-miR-26b	CLIP-seq
MIRT1341840	hsa-miR-29a	CLIP-seq
MIRT1341841	hsa-miR-29b	CLIP-seq
MIRT1341842	hsa-miR-29c	CLIP-seq
MIRT1341845	hsa-miR-3126-5p	CLIP-seq
MIRT2101194	hsa-miR-3140-5p	CLIP-seq
MIRT2101195	hsa-miR-3160-5p	CLIP-seq
MIRT1341847	hsa-miR-3190	CLIP-seq
MIRT2325571	hsa-miR-337-3p	CLIP-seq
MIRT1341848	hsa-miR-3662	CLIP-seq
MIRT1341850	hsa-miR-3692	CLIP-seq
MIRT2101196	hsa-miR-374c	CLIP-seq
MIRT1341852	hsa-miR-3978	CLIP-seq
MIRT1341854	hsa-miR-4276	CLIP-seq
MIRT2101197	hsa-miR-4279	CLIP-seq
MIRT2101198	hsa-miR-4305	CLIP-seq
MIRT1341855	hsa-miR-4419a	CLIP-seq
MIRT1341856	hsa-miR-4436b-5p	CLIP-seq
MIRT1341858	hsa-miR-4457	CLIP-seq
MIRT1341859	hsa-miR-4491	CLIP-seq
MIRT1341861	hsa-miR-4510	CLIP-seq
MIRT1341862	hsa-miR-4517	CLIP-seq
MIRT1341863	hsa-miR-4528	CLIP-seq
MIRT2101199	hsa-miR-4639-3p	CLIP-seq
MIRT1341864	hsa-miR-4657	CLIP-seq
MIRT2325572	hsa-miR-4659a-3p	CLIP-seq
MIRT2325573	hsa-miR-4659b-3p	CLIP-seq
MIRT2325574	hsa-miR-4662a-3p	CLIP-seq
MIRT1341865	hsa-miR-4698	CLIP-seq
MIRT2101200	hsa-miR-4699-5p	CLIP-seq
MIRT1341868	hsa-miR-4769-3p	CLIP-seq
MIRT1341869	hsa-miR-4775	CLIP-seq
MIRT2325575	hsa-miR-4778-3p	CLIP-seq
MIRT1341870	hsa-miR-4789-5p	CLIP-seq
MIRT1341871	hsa-miR-511	CLIP-seq
MIRT1341872	hsa-miR-516a-3p	CLIP-seq
MIRT1341873	hsa-miR-520d-5p	CLIP-seq
MIRT1341874	hsa-miR-524-5p	CLIP-seq
MIRT2325576	hsa-miR-548g	CLIP-seq
MIRT2101201	hsa-miR-582-5p	CLIP-seq
MIRT1341884	hsa-miR-586	CLIP-seq
MIRT1341885	hsa-miR-590-3p	CLIP-seq
MIRT1341886	hsa-miR-600	CLIP-seq
MIRT2325577	hsa-miR-606	CLIP-seq
MIRT1341887	hsa-miR-607	CLIP-seq
MIRT1341888	hsa-miR-624	CLIP-seq
MIRT2101202	hsa-miR-655	CLIP-seq
MIRT1341889	hsa-miR-660	CLIP-seq
MIRT2325578	hsa-miR-944	CLIP-seq
MIRT1341824	hsa-miR-1226	CLIP-seq
MIRT1341827	hsa-miR-1277	CLIP-seq
MIRT1341836	hsa-miR-2115	CLIP-seq
MIRT1341840	hsa-miR-29a	CLIP-seq
MIRT1341841	hsa-miR-29b	CLIP-seq
MIRT1341842	hsa-miR-29c	CLIP-seq
MIRT2101195	hsa-miR-3160-5p	CLIP-seq
MIRT1341847	hsa-miR-3190	CLIP-seq
MIRT2325571	hsa-miR-337-3p	CLIP-seq
MIRT1341854	hsa-miR-4276	CLIP-seq
MIRT1341859	hsa-miR-4491	CLIP-seq
MIRT1341862	hsa-miR-4517	CLIP-seq
MIRT2101199	hsa-miR-4639-3p	CLIP-seq
MIRT1341864	hsa-miR-4657	CLIP-seq
MIRT1341872	hsa-miR-516a-3p	CLIP-seq
MIRT1341835	hsa-miR-2110	CLIP-seq
MIRT1341853	hsa-miR-4271	CLIP-seq
MIRT1341866	hsa-miR-4725-3p	CLIP-seq
MIRT1341875	hsa-miR-548ac	CLIP-seq
MIRT1341876	hsa-miR-548ae	CLIP-seq
MIRT1341877	hsa-miR-548aj	CLIP-seq
MIRT1341878	hsa-miR-548am	CLIP-seq
MIRT1341879	hsa-miR-548d-3p	CLIP-seq
MIRT1341882	hsa-miR-548x	CLIP-seq
MIRT1341883	hsa-miR-548z	CLIP-seq
MIRT1341835	hsa-miR-2110	CLIP-seq
MIRT1341853	hsa-miR-4271	CLIP-seq
MIRT1341866	hsa-miR-4725-3p	CLIP-seq
MIRT1341875	hsa-miR-548ac	CLIP-seq
MIRT1341876	hsa-miR-548ae	CLIP-seq
MIRT1341877	hsa-miR-548aj	CLIP-seq
MIRT1341878	hsa-miR-548am	CLIP-seq
MIRT1341879	hsa-miR-548d-3p	CLIP-seq
MIRT1341882	hsa-miR-548x	CLIP-seq
MIRT1341883	hsa-miR-548z	CLIP-seq
MIRT2101193	hsa-miR-1200	CLIP-seq
MIRT1341824	hsa-miR-1226	CLIP-seq
MIRT1341835	hsa-miR-2110	CLIP-seq
MIRT1341836	hsa-miR-2115	CLIP-seq
MIRT1341840	hsa-miR-29a	CLIP-seq
MIRT1341841	hsa-miR-29b	CLIP-seq
MIRT1341842	hsa-miR-29c	CLIP-seq
MIRT2101194	hsa-miR-3140-5p	CLIP-seq
MIRT2325571	hsa-miR-337-3p	CLIP-seq
MIRT1341850	hsa-miR-3692	CLIP-seq
MIRT2101196	hsa-miR-374c	CLIP-seq
MIRT1341853	hsa-miR-4271	CLIP-seq
MIRT2325572	hsa-miR-4659a-3p	CLIP-seq
MIRT2325573	hsa-miR-4659b-3p	CLIP-seq
MIRT2101200	hsa-miR-4699-5p	CLIP-seq
MIRT1341866	hsa-miR-4725-3p	CLIP-seq
MIRT1341872	hsa-miR-516a-3p	CLIP-seq
MIRT1341875	hsa-miR-548ac	CLIP-seq
MIRT1341876	hsa-miR-548ae	CLIP-seq
MIRT1341877	hsa-miR-548aj	CLIP-seq
MIRT1341878	hsa-miR-548am	CLIP-seq
MIRT1341879	hsa-miR-548d-3p	CLIP-seq
MIRT1341882	hsa-miR-548x	CLIP-seq
MIRT1341883	hsa-miR-548z	CLIP-seq
MIRT2101201	hsa-miR-582-5p	CLIP-seq
MIRT1341884	hsa-miR-586	CLIP-seq
MIRT2325577	hsa-miR-606	CLIP-seq
MIRT2101202	hsa-miR-655	CLIP-seq
MIRT1341889	hsa-miR-660	CLIP-seq
MIRT2101193	hsa-miR-1200	CLIP-seq
MIRT1341824	hsa-miR-1226	CLIP-seq
MIRT1341835	hsa-miR-2110	CLIP-seq
MIRT1341836	hsa-miR-2115	CLIP-seq
MIRT1341840	hsa-miR-29a	CLIP-seq
MIRT1341841	hsa-miR-29b	CLIP-seq
MIRT1341842	hsa-miR-29c	CLIP-seq
MIRT2101194	hsa-miR-3140-5p	CLIP-seq
MIRT2325571	hsa-miR-337-3p	CLIP-seq
MIRT1341850	hsa-miR-3692	CLIP-seq
MIRT2101196	hsa-miR-374c	CLIP-seq
MIRT1341853	hsa-miR-4271	CLIP-seq
MIRT2101200	hsa-miR-4699-5p	CLIP-seq
MIRT1341866	hsa-miR-4725-3p	CLIP-seq
MIRT1341872	hsa-miR-516a-3p	CLIP-seq
MIRT1341875	hsa-miR-548ac	CLIP-seq
MIRT1341876	hsa-miR-548ae	CLIP-seq
MIRT1341877	hsa-miR-548aj	CLIP-seq
MIRT1341878	hsa-miR-548am	CLIP-seq
MIRT1341879	hsa-miR-548d-3p	CLIP-seq
MIRT1341882	hsa-miR-548x	CLIP-seq
MIRT1341883	hsa-miR-548z	CLIP-seq
MIRT2101201	hsa-miR-582-5p	CLIP-seq
MIRT2325577	hsa-miR-606	CLIP-seq
MIRT2101202	hsa-miR-655	CLIP-seq
MIRT1341889	hsa-miR-660	CLIP-seq

Show/Hide all (63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	16731528
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IGI	15790595
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	22783022
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	IBA
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	IMP	19874820
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	20813759
GO:0000785	Component	Chromatin	IDA	16731528
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0002218	Process	Activation of innate immune response	IDA	28712728
GO:0002218	Process	Activation of innate immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IDA	25765647
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	9848648, 10653975, 11259580, 11514619, 15790595, 16148043, 16417406, 16731528, 18457437, 19439179, 19874820, 20932480, 21653829, 21988832, 23714182, 25765647, 25959826, 26030138, 28514442, 30021884, 31413325, 32525608, 33961781, 35271311, 39251607
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15790595
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	19874820
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0006397	Process	MRNA processing	IEA
GO:0006397	Process	MRNA processing	TAS	8449401
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	TAS	8449401
GO:0016363	Component	Nuclear matrix	IDA	19874820
GO:0016363	Component	Nuclear matrix	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0030425	Component	Dendrite	IEA
GO:0042382	Component	Paraspeckles	IDA	19874820, 25765647
GO:0042382	Component	Paraspeckles	IEA
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0042754	Process	Negative regulation of circadian rhythm	IEA
GO:0042754	Process	Negative regulation of circadian rhythm	ISS
GO:0042803	Function	Protein homodimerization activity	IPI	25765647
GO:0042826	Function	Histone deacetylase binding	IPI	16731528
GO:0045087	Process	Innate immune response	IEA
GO:0045876	Process	Positive regulation of sister chromatid cohesion	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	25765647
GO:0048511	Process	Rhythmic process	IEA
GO:0051276	Process	Chromosome organization	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS
GO:0098963	Process	Dendritic transport of messenger ribonucleoprotein complex	IEA
GO:1902177	Process	Positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IDA	15790595

MIM	HGNC	e!Ensembl
605199	10774	ENSG00000116560

P23246

Protein name

Splicing factor, proline- and glutamine-rich (100 kDa DNA-pairing protein) (hPOMp100) (DNA-binding p52/p100 complex, 100 kDa subunit) (Polypyrimidine tract-binding protein-associated-splicing factor) (PSF) (PTB-associated-splicing factor)

Protein function

DNA- and RNA binding protein, involved in several nuclear processes. Essential pre-mRNA splicing factor required early in spliceosome formation and for splicing catalytic step II, probably as a heteromer with NONO. Binds to pre-mRNA in spliceoso

PDB

4WII , 4WIJ , 4WIK , 5WPA , 6NCQ , 6OWJ , 6WMZ , 7LRQ , 7LRU , 7PU5 , 7SP0 , 7UJ1 , 7UK1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00076	RRM_1	299 → 363	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF00076	RRM_1	373 → 440	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF08075	NOPS	444 → 495	NOPS (NUC059) domain	Domain

Sequence

MSRDRFRSRGGGGGGFHRRGGGGGRGGLHDFRSPPPGMGLNQNRGPMGPGPGQSGPKPPI
PPPPPHQQQQQPPPQQPPPQQPPPHQPPPHPQPHQQQQPPPPPQDSSKPVVAQGPGPAPG
VGSAPPASSSAPPATPPTSGAPPGSGPGPTPTPPPAVTSAPPGAPPPTPPSSGVPTTPPQ
AGGPPPPPAAVPGPGPGPKQGPGPGGPKGGKMPGGPKPGGGPGLSTPGGHPKPPHRGGGE
PRGGRQHHPPYHQQHHQGPPPGGPGGRSEEKISDSEGFKANLSLLRRPGEKTYTQRCRLF
VGNLPADITEDEFKRLFAKYGEPGEVFINKGKGFGFIKLESRALAEIAKAELDDTPMRGR
QLRVRFATHAAALSVRNLSPYVSNELLEEAFSQFGPIERAVVIVDDRGRSTGKGIVEFAS
KPAARKAFERCSEGVFLLTTTPRPVIVEPLEQLDDEDGLPEKLAQKNPMYQKERETPPRF
AQHGTFEYEYSQRWKSLDEMEKQQREQVEKNMKDAKDKLESEMEDAYHEHQANLLRQDLM
RRQEELRRMEELHNQEMQKRKEMQLRQEEERRRREEEMMIRQREMEEQMRRQREESYSRM
GYMDPRERDMRMGGGGAMNMGDPYGSGGQKFPPLGGGGGIGYEANPGVPPATMSGSMMGS
DMRTERFGQGGAGPVGGQGPRGMGPGTPAGYGRGREEYEGPNKKPRF

Sequence length

707

Interactions

View interactions

	Reactome
			PTK6 Regulates Proteins Involved in RNA Processing Suppression of apoptosis

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)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
DERMATOLOGIC DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, GENETIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (68)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acne	Acne	BEFREE	30577530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	BEFREE	30577530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	9605951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	27919567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	31085769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	26334913, 29426953, 29789581, 30980111, 31368485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	33495278, 33693641, 36168806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	36168806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	30030189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	31085769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arsenic Encephalopathy	Arsenic Encephalopathy	CTD_human_DG	16835338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	BEFREE	28656103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33017027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	29713041	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37324188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26975036, 30951404	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	31306277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31130312, 31826895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23516550, 24288667		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30026827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24288667, 38166604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21504709, 26975036, 28315422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Disease Of Lung	Cystic lung disease	Pubtator	34404863	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	34404863	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	22558197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	CTD_human_DG	16835338		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatomyositis	Dermatomyositis	BEFREE	27919567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	11771760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	18445785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	18445785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	28315422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	31990679	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	29376859, 29426953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	33495278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	28147269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	24327337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	6146037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	25582502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	24327337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	22976956, 31990679	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31815296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	34404863	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	19809274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30254462, 31815296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19625619, 19805375, 19855157, 25048860, 29212731, 30377567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23516550, 24288667		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	30594961		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28877054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34218270	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MiT family translocation renal cell carcinoma	Renal Carcinoma	ORPHANET_DG	20073616, 9393982		★★★★★ ★☆☆☆☆ Found in Text Mining only
MiT family translocation renal cell carcinoma	Renal Carcinoma	BEFREE	23628822, 24339735, 28315422		★★★★★ ★☆☆☆☆ Found in Text Mining only
MiT family translocation renal cell carcinoma	Renal Carcinoma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19805375, 19809274, 19855157, 23644382, 29799303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19606011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	2687298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	36915153	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	9393982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Perivascular Epithelioid Cell Neoplasms	Perivascular Epithelioid Neoplasms	BEFREE	19606011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	22558197, 29376859, 29426953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	8473291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	21435002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23737958	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	19809274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11313942, 21504709, 26975036, 28315422, 28411178, 9393982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	16832349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	29376859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30725116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30725116	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SFPQ (splicing factor proline and glutamine rich)