AiPD: Autoinhibited Protein Database

Q9UMS4

Gene name	PRPF19
Protein name	Pre-mRNA-processing factor 19
Names	Nuclear matrix protein 200, PRP19/PSO4 homolog, hPso4, RING-type E3 ubiquitin transferase PRP19, Senescence evasion factor
Species	Homo sapiens (Human)
KEGG Pathway	hsa:27339
EC number	2.3.2.27: Aminoacyltransferases
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

111-225 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

111-225 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

18 structures for Q9UMS4

Entry ID	Method	Resolution	Chain	Position	Source
4LG8	X-ray	189 A	A	169-504	PDB
5MQF	EM	590 A	G/H/I/J	1-504	PDB
5XJC	EM	360 A	q/r/s/t	1-504	PDB
5YZG	EM	410 A	q/r/s/t	1-504	PDB
5Z56	EM	510 A	q/r/s/t	1-504	PDB
5Z57	EM	650 A	q/r/s/t	1-504	PDB
6FF7	EM	450 A	G/H/I/J	1-504	PDB
6ICZ	EM	300 A	q/r/s/t	1-504	PDB
6ID0	EM	290 A	q/r/s/t	1-504	PDB
6ID1	EM	286 A	q/r/s/t	1-504	PDB
6QDV	EM	330 A	t/u/v/w	1-504	PDB
7A5P	EM	500 A	G/H/I/J	1-504	PDB
7W59	EM	360 A	q/r/s/t	1-504	PDB
7W5A	EM	360 A	q/r/s/t	1-504	PDB
7W5B	EM	430 A	q/r/s/t	1-504	PDB
8C6J	EM	280 A	t/u/v/w	1-504	PDB
8CH6	EM	590 A	K/M/R/v	1-504	PDB
AF-Q9UMS4-F1	Predicted				AlphaFoldDB

227 variants for Q9UMS4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1380054398 CA380613824	2	S>F		No	ClinGen TOPMed gnomAD
CA380613815 rs1252519861	4	I>T		No	ClinGen TOPMed
rs1211899098 CA380613817	4	I>V		No	ClinGen TOPMed
rs1486244086 CA380613809	5	C>G		No	ClinGen TOPMed
CA380613802 rs1158699564	6	S>P		No	ClinGen gnomAD
CA380613796 rs1188435791	7	I>V		No	ClinGen TOPMed
TCGA novel	8	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380613423 rs1278370869	11	V>M		No	ClinGen gnomAD
rs1219957812 CA380613414	12	P>L		No	ClinGen gnomAD
rs1177401126 CA380613365	19	P>L		No	ClinGen TOPMed
rs773144466 CA6028191	20	V>A		No	ClinGen ExAC gnomAD
CA380613363 rs142289186	20	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs142289186 CA6028192	20	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6028190 rs769869900	22	N>K		No	ClinGen ExAC TOPMed gnomAD
CA6028188 rs776930181	27	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1401369134 CA380613311	28	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs747367973 CA6028186	30	I>V		No	ClinGen ExAC gnomAD
rs1168471127 CA380613266	34	I>M		No	ClinGen Ensembl
rs758797230 CA6028184	34	I>V		No	ClinGen ExAC gnomAD
CA6028183 rs577035765	35	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1458457214 CA380613239	38	G>V		No	ClinGen gnomAD
CA380613238 rs1590609173	39	T>P		No	ClinGen Ensembl
CA380613229 rs1590609165	40	D>A		No	ClinGen Ensembl
CA6028180 rs752206535	43	N>H		No	ClinGen ExAC gnomAD
rs780763322 CA380613201	44	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6028179 rs780763322	44	N>T		No	ClinGen ExAC TOPMed gnomAD
CA6028178 rs754681188	45	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs751326482 CA6028177	46	P>R		No	ClinGen ExAC gnomAD
rs148723802 CA6028176	47	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA380613174 rs1377410686	49	E>K		No	ClinGen gnomAD
rs1333088971 CA380613153	51	Q>L		No	ClinGen gnomAD
CA6028172 rs761898960	54	D>E		No	ClinGen ExAC gnomAD
rs765095108 CA6028173	54	D>N		No	ClinGen ExAC gnomAD
rs776911537 CA6028171	56	K>R		No	ClinGen ExAC gnomAD
CA380613101 rs1590608986	57	V>G		No	ClinGen Ensembl
rs1412653789 CA380613098	58	A>G		No	ClinGen gnomAD
CA6028151 rs373755626	58	A>T		No	ClinGen ESP ExAC gnomAD
CA380613092 rs1590608966	59	H>P		No	ClinGen Ensembl
rs1182047643 CA380613093	59	H>Y		No	ClinGen gnomAD
CA380613085 rs1486433660	60	P>S		No	ClinGen gnomAD
rs371740118 CA6028150	61	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA380613074 rs1341856985	62	R>W		No	ClinGen gnomAD
TCGA novel	63	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6028147 rs759887565	65	P>L		No	ClinGen ExAC TOPMed gnomAD
CA380613049 rs1476079655	66	P>S		No	ClinGen Ensembl
TCGA novel	69	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380613030 rs1320847176	69	T>N		No	ClinGen gnomAD
rs1590608942 CA380613031	69	T>P		No	ClinGen Ensembl
CA380613007 rs1313122426	72	P>L		No	ClinGen gnomAD
CA380612914 rs1169464246	84	A>T		No	ClinGen TOPMed gnomAD
CA222805192 rs188856023	91	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6028125 rs188856023	91	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380612850 rs1267894559	93	R>H		No	ClinGen TOPMed gnomAD
rs763338715 CA6028124	98	T>I		No	ClinGen ExAC gnomAD
rs1456242921 CA380612814	99	T>A		No	ClinGen gnomAD
COSM1355137 rs770302443 CA6028122	106	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs746512844 CA6028121	107	L>M		No	ClinGen ExAC TOPMed gnomAD
rs746512844 CA380612763	107	L>V		No	ClinGen ExAC TOPMed gnomAD
CA222805190 COSM336396 rs1022228004	109	Q>*	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA380612736 rs1304026288 COSM1676075	111	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1376668638 CA380612707	113	A>T	Variant assessed as Somatic; 4.678e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs745553086 CA6028118	114	C>S		No	ClinGen ExAC gnomAD
TCGA novel	130	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	136	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1337220082 CA380612278	141	I>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1331762497 CA380612274	141	I>T		No	ClinGen gnomAD
CA380612214 rs1402332686	148	S>G		No	ClinGen gnomAD
rs1314123116 CA380612211	148	S>N		No	ClinGen gnomAD
CA380612152 rs1431482205	154	V>L		No	ClinGen TOPMed
CA222805170 rs764663367	155	G>D		No	ClinGen ExAC gnomAD
CA6028084 rs764663367	155	G>V		No	ClinGen ExAC gnomAD
CA6028083 rs201476413	156	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380612098 rs1393241852	157	G>S		No	ClinGen gnomAD
rs770702591 CA6028081	160	M>V		No	ClinGen ExAC TOPMed gnomAD
CA380612007 rs1218592872	165	L>P		No	ClinGen gnomAD
rs1289628422 CA380611967	169	T>I		No	ClinGen gnomAD
TCGA novel	172	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6028077 rs747979895	174	Q>E		No	ClinGen ExAC gnomAD
rs780935730 CA6028076	175	K>N		No	ClinGen ExAC gnomAD
rs952804449 CA222805080	180	A>S		No	ClinGen TOPMed
CA380610995 rs1412815826	185	T>M		No	ClinGen gnomAD
TCGA novel	187	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA222805043 rs766554490	190	R>S		No	ClinGen Ensembl
CA222805041 rs935122017	191	G>A		No	ClinGen TOPMed gnomAD
rs1215683958 CA380610655 COSM3788011	205	S>N	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs535292064 CA6028026	206	K>R		No	ClinGen ExAC TOPMed gnomAD
rs748537450 CA6028025	207	Y>H		No	ClinGen ExAC gnomAD
rs146375869 CA6028023	208	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs781761710 CA6028024	208	R>W		No	ClinGen ExAC TOPMed gnomAD
rs749873468 CA6028022	210	V>G		No	ClinGen ExAC gnomAD
rs764854053 CA6028021	211	A>G		No	ClinGen ExAC gnomAD
CA380610595 rs1416685904	211	A>S		No	ClinGen gnomAD
CA222805033 rs897431580	212	S>Y		No	ClinGen Ensembl
CA6028020 rs756743727	213	H>P		No	ClinGen ExAC
TCGA novel	214	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763655161 CA6028018	214	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	230	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752455658 CA6027999	231	P>L		No	ClinGen ExAC gnomAD
CA380610366 rs1401985215	231	P>S		No	ClinGen TOPMed
rs765636008 CA222804945	233	D>H		No	ClinGen ExAC gnomAD
rs765636008 CA6027996	233	D>N		No	ClinGen ExAC gnomAD
CA380610330 rs1253352378	234	T>I		No	ClinGen gnomAD
CA6027995 rs368154972	236	K>R		No	ClinGen ExAC TOPMed gnomAD
CA380610244 rs1257506665	239	T>I		No	ClinGen gnomAD
TCGA novel	240	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374417404 COSM929322 CA6027972	242	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs1395605276 CA380610099	244	K>R		No	ClinGen gnomAD
CA222804903 rs761083429	247	V>F		No	ClinGen ExAC TOPMed gnomAD
COSM929321 CA6027970 rs761083429	247	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1363476832 CA380609978	251	K>E		No	ClinGen gnomAD
CA222804899 rs868116322	252	S>I		No	ClinGen Ensembl
rs1182831695 CA380609939	253	S>F		No	ClinGen gnomAD
CA222804897 rs868158781	254	E>*		No	ClinGen Ensembl
CA222804895 rs914686397	259	T>A		No	ClinGen TOPMed gnomAD
CA380609871 rs1214961919	260	L>F		No	ClinGen gnomAD
rs1350447238 CA380609848	262	G>D		No	ClinGen gnomAD
rs1480507006 CA380609851	262	G>S		No	ClinGen TOPMed
rs865974567 CA222804893	264	T>A		No	ClinGen Ensembl
rs990341293 CA222804892	264	T>N		No	ClinGen TOPMed
CA380609710 rs1413611883	273	H>N		No	ClinGen gnomAD
rs891516684 CA222804889	276	Q>K		No	ClinGen gnomAD
CA6027954 rs765274141	278	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	285	D>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380609269 rs1164522281	286	A>D		No	ClinGen gnomAD
CA6027949 COSM145822 rs201780573	287	T>P	lung Variant assessed as Somatic; 9.244e-05 impact. autonomic_ganglia haematopoietic_and_lymphoid_tissue breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA6027948 rs746683897	288	I>M		No	ClinGen ExAC TOPMed gnomAD
CA6027947 rs149479095	292	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs771441031 CA380609175	295	N>I		No	ClinGen ExAC TOPMed gnomAD
rs1195839701 CA380609173	295	N>K		No	ClinGen gnomAD
rs771441031 CA6027945	295	N>S		No	ClinGen ExAC TOPMed gnomAD
CA222804652 rs867683463	296	A>S		No	ClinGen TOPMed gnomAD
CA222804653 rs867683463	296	A>T		No	ClinGen TOPMed gnomAD
rs1450200515 CA380609152	297	S>C		No	ClinGen gnomAD
CA6027944 rs532340461	298	C>F		No	ClinGen ExAC TOPMed gnomAD
CA222804650 rs532340461	298	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1397732212 CA380609133	299	V>L		No	ClinGen TOPMed
CA380609082 rs1354313581	303	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1335005545 CA380609084	303	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs559372803 CA6027940	306	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs137995824 CA6027939	307	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs745674836 CA6027938	307	S>N		No	ClinGen ExAC gnomAD
rs778985202 CA6027937	309	V>L		No	ClinGen ExAC TOPMed gnomAD
rs921065239 CA222804640	313	S>G		No	ClinGen TOPMed
CA380608936 rs1396955598	318	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs578249932 CA6027934	319	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs756238453 CA6027933	321	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6027932 rs752820556	324	S>C		No	ClinGen ExAC gnomAD
rs1170177926 CA380608897	324	S>T		No	ClinGen gnomAD
CA380608884 rs1468690935	326	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA380608874 rs1483459014	327	D>G		No	ClinGen TOPMed
rs1211377687 CA380608846	329	Y>C		No	ClinGen gnomAD
CA380608817 rs1349821042	333	S>A		No	ClinGen gnomAD
rs1290869090 CA380608805	335	I>V		No	ClinGen gnomAD
CA380608791 rs1223440687	336	Q>H		No	ClinGen gnomAD
CA380608785 rs1374325238	337	T>I		No	ClinGen gnomAD
CA6027911 rs756080029	339	R>C		No	ClinGen ExAC gnomAD
CA6027910 COSM1289580 rs372158363	339	R>H	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA380608775 rs372158363	339	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA380608772 rs1437073855	340	V>M		No	ClinGen gnomAD
CA222804591 rs774076768	341	L>F		No	ClinGen TOPMed gnomAD
rs982889966 CA222804589	342	T>I		No	ClinGen gnomAD
CA380608753 rs1327231240	343	K>M		No	ClinGen gnomAD
rs1408247255 CA380608737	346	D>H		No	ClinGen gnomAD
TCGA novel	346	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1183773966 CA380608724	347	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA380608717 rs1473921535	348	T>I		No	ClinGen gnomAD
rs187723610 CA6027906	350	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763340646 CA6027905	351	C>F		No	ClinGen ExAC
TCGA novel	367	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1324231219 CA380608387	374	I>T		No	ClinGen gnomAD
TCGA novel	377	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768635964 CA6027857	382	R>C		No	ClinGen ExAC gnomAD
COSM929315 CA6027856 rs747084495	382	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA222804486 rs568382090	391	H>Q		No	ClinGen 1000Genomes gnomAD
CA380608142 rs1417495946	391	H>Y		No	ClinGen gnomAD
CA222804483 COSM3397953 rs1017944175	392	S>L	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA6027853 rs746057859	395	I>L		No	ClinGen ExAC gnomAD
CA6027852 rs779037633	397	S>G		No	ClinGen ExAC
rs771262278 CA380608076	398	I>F		No	ClinGen ExAC TOPMed gnomAD
rs771262278 CA6027851	398	I>V		No	ClinGen ExAC TOPMed gnomAD
CA380608066 rs1349076964	399	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA380607912 rs1318768298	410	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	412	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1590606245 CA380607890	412	D>G		No	ClinGen Ensembl
rs1305748576 CA380607897	412	D>N		No	ClinGen gnomAD
rs1391444121 CA380607864	414	S>A		No	ClinGen gnomAD
rs1363422787 CA380607600	434	N>D		No	ClinGen gnomAD
CA380607584 rs1440065457	435	N>H		No	ClinGen TOPMed
CA380607006 rs1195866279	438	V>L		No	ClinGen gnomAD
TCGA novel	440	S>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380606922 rs1465922682	445	Q>R		No	ClinGen gnomAD
rs763832101 CA6027820	452	L>F		No	ClinGen ExAC TOPMed gnomAD
rs763832101 CA380606845	452	L>V		No	ClinGen ExAC TOPMed gnomAD
CA380606829 rs1262886494	453	G>A		No	ClinGen TOPMed
CA6027819 rs760498240	455	T>A		No	ClinGen ExAC gnomAD
CA6027818 rs752566353	455	T>K		No	ClinGen ExAC gnomAD
TCGA novel	457	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380606767 rs1205099959	459	I>V		No	ClinGen TOPMed
CA380606741 rs1392543346	460	Y>F		No	ClinGen gnomAD
rs759650877 CA6027816	461	I>F		No	ClinGen ExAC TOPMed gnomAD
rs774363197 CA6027815	464	Q>R		No	ClinGen ExAC gnomAD
rs763315662 CA6027813	466	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1166682302 CA380606669	466	T>S		No	ClinGen TOPMed gnomAD
CA6027811 rs770216029	467	E>K		No	ClinGen ExAC gnomAD
rs369873611 CA222804410	472	T>I		No	ClinGen gnomAD
rs769182079 CA6027789	476	G>C		No	ClinGen ExAC TOPMed gnomAD
rs769182079 CA6027788	476	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6027787 COSM297903 rs747422727	481	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1277913858 CA380605517	482	A>G		No	ClinGen gnomAD
rs565742443 CA6027786	482	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA222802435 rs201221725	485	H>Y		No	ClinGen gnomAD
rs1183291596 CA380605488	486	H>L		No	ClinGen TOPMed
CA380605487 rs751325779 CA222802433	486	H>Q		No	ClinGen TOPMed
CA6027784 rs140004740	487	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1378340479 CA380605481	488	K>Q		No	ClinGen TOPMed
CA6027782 COSM348488 rs146560356	489	F>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC
CA380605460 rs923323582	490	I>M		No	ClinGen TOPMed gnomAD
CA380605465 rs1428227306	490	I>V		No	ClinGen gnomAD
rs866783506 CA222802420	494	G>D		No	ClinGen Ensembl
CA380605441 rs1426808982	494	G>S		No	ClinGen gnomAD
CA380605430 rs1469212256	495	M>I		No	ClinGen gnomAD
CA380605427 rs1565108492	496	D>N		No	ClinGen Ensembl
CA380605416 rs1590602892	497	R>K		No	ClinGen Ensembl
CA380605408 rs1251851887	498	S>T		No	ClinGen TOPMed gnomAD
CA6027781 rs747946929	501	F>L		No	ClinGen ExAC gnomAD
CA380605380 rs1590602878	502	Y>S		No	ClinGen Ensembl
rs780899009 CA6027780	503	S>N		No	ClinGen ExAC gnomAD

No associated diseases with Q9UMS4

10 regional properties for Q9UMS4

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	206 - 250	IPR001680-1
repeat	WD40 repeat	253 - 334	IPR001680-2
repeat	WD40 repeat	337 - 463	IPR001680-3
repeat	WD40 repeat	464 - 504	IPR001680-4
domain	U-box domain	1 - 73	IPR003613
domain	Pre-mRNA-splicing factor 19	68 - 133	IPR013915
conserved_site	WD40 repeat, conserved site	407 - 421	IPR019775
repeat	G-protein beta WD-40 repeat	279 - 293	IPR020472-1
repeat	G-protein beta WD-40 repeat	365 - 379	IPR020472-2
repeat	G-protein beta WD-40 repeat	407 - 421	IPR020472-3

Functions

		Description
EC Number	2.3.2.27	Aminoacyltransferases
Subcellular Localization	Nucleus Nucleus, nucleoplasm Cytoplasm, cytoskeleton, spindle Cytoplasm Lipid droplet	Nucleoplasmic in interphase cells Irregularly distributed in anaphase cells In prophase cells, uniformly distributed, but not associated with condensing chromosomes Found in extrachromosomal regions in metaphase cells Mainly localized to the mitotic spindle apparatus when chromosomes segregate during anaphase When nuclei reform during late telophase, uniformly distributed in daughter cells and displays no preferred association with decondensing chromatin Recruited on damaged DNA at sites of double-strand break
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

13 GO annotations of cellular component

Name	Definition
catalytic step 2 spliceosome	A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
lipid droplet	An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
Prp19 complex	A protein complex consisting of Prp19 and associated proteins that is involved in the transition from the precatalytic spliceosome to the activated form that catalyzes step 1 of splicing, and which remains associated with the spliceosome through the second catalytic step. It is widely conserved, found in both yeast and mammals, though the exact composition varies. In S. cerevisiae, it contains Prp19p, Ntc20p, Snt309p, Isy1p, Syf2p, Cwc2p, Prp46p, Clf1p, Cef1p, and Syf1p.
site of double-strand break	A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.
spindle	The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.
spliceosomal complex	Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA.
U2-type catalytic step 1 spliceosome	A spliceosomal complex that is formed by the displacement of the U1 and U4 snRNPs from the precatalytic spliceosome; the U2, U5 and U6 snRNPs remain associated with the mRNA. This complex, sometimes called the activated spliceosome, is the catalytically active form of the spliceosome, and includes many proteins in addition to those found in the U2, and U5 and U6 snRNPs.
U2-type catalytic step 2 spliceosome	A spliceosomal complex that contains the U2, U5 and U6 snRNPs bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the U2, U5 and U6 snRNPs.

4 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
ubiquitin protein ligase activity	Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.
ubiquitin-protein transferase activity	Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages.
ubiquitin-ubiquitin ligase activity	Isoenergetic transfer of ubiquitin from one protein to an existing ubiquitin chain via the reaction X-ubiquitin + Y-ubiquitin -> Y-ubiquitin-ubiquitin + X, where both the X-ubiquitin and Y-ubiquitin-ubiquitin linkages are thioester bonds between the C-terminal glycine of ubiquitin and a sulfhydryl side group of a cysteine residue.

13 GO annotations of biological process

Name	Definition
DNA damage checkpoint signaling	A signal transduction process that contributes to a DNA damage checkpoint.
double-strand break repair via nonhomologous end joining	The repair of a double-strand break in DNA in which the two broken ends are rejoined with little or no sequence complementarity. Information at the DNA ends may be lost due to the modification of broken DNA ends. This term covers instances of separate pathways, called classical (or canonical) and alternative nonhomologous end joining (C-NHEJ and A-NHEJ). These in turn may further branch into sub-pathways, but evidence is still unclear.
lipid biosynthetic process	The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.
mRNA splicing, via spliceosome	The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.
positive regulation of astrocyte differentiation	Any process that activates or increases the frequency, rate or extent of astrocyte differentiation.
positive regulation of mRNA splicing, via spliceosome	Any process that activates or increases the rate or extent of mRNA splicing via a spliceosomal mechanism.
positive regulation of neuron differentiation	Any process that activates or increases the frequency, rate or extent of neuron differentiation.
proteasomal protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds that is mediated by the proteasome.
protein K63-linked ubiquitination	A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is added to a protein. K63-linked ubiquitination does not target the substrate protein for degradation, but is involved in several pathways, notably as a signal to promote error-free DNA postreplication repair.
protein localization	Any process in which a protein is transported to, or maintained in, a specific location.
protein polyubiquitination	Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain.
spliceosomal complex assembly	The aggregation, arrangement and bonding together of a spliceosomal complex, a ribonucleoprotein apparatus that catalyzes nuclear mRNA splicing via transesterification reactions.
spliceosomal tri-snRNP complex assembly	The formation of a tri-snRNP complex containing U4 and U6 (or U4atac and U6atac) snRNAs and U5 snRNAs and associated proteins. This includes reannealing of U4 and U6 (or U4atac and U6atac) snRNAs released from previous rounds of splicing to reform the U4/U6 snRNP (or U4atac/U6atac snRNP) as well as the subsequent association of the U5 snRNP with the U4/U6 snRNP (or U4atac/U6atac snRNP) to form a tri-snRNP that is ready to reassemble into another spliceosome complex.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q99KP6	Prpf19	Pre-mRNA-processing factor 19	Mus musculus (Mouse)	PR
Q10051	prp-19	Pre-mRNA-processing factor 19	Caenorhabditis elegans	PR
O22785	PRP19B	Pre-mRNA-processing factor 19 homolog 2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSLICSISNE	VPEHPCVSPV	SNHVYERRLI	EKYIAENGTD	PINNQPLSEE	QLIDIKVAHP
70	80	90	100	110	120
IRPKPPSATS	IPAILKALQD	EWDAVMLHSF	TLRQQLQTTR	QELSHALYQH	DAACRVIARL
130	140	150	160	170	180
TKEVTAAREA	LATLKPQAGL	IVPQAVPSSQ	PSVVGAGEPM	DLGELVGMTP	EIIQKLQDKA
190	200	210	220	230	240
TVLTTERKKR	GKTVPEELVK	PEELSKYRQV	ASHVGLHSAS	IPGILALDLC	PSDTNKILTG
250	260	270	280	290	300
GADKNVVVFD	KSSEQILATL	KGHTKKVTSV	VFHPSQDLVF	SASPDATIRI	WSVPNASCVQ
310	320	330	340	350	360
VVRAHESAVT	GLSLHATGDY	LLSSSDDQYW	AFSDIQTGRV	LTKVTDETSG	CSLTCAQFHP
370	380	390	400	410	420
DGLIFGTGTM	DSQIKIWDLK	ERTNVANFPG	HSGPITSIAF	SENGYYLATA	ADDSSVKLWD
430	440	450	460	470	480
LRKLKNFKTL	QLDNNFEVKS	LIFDQSGTYL	ALGGTDVQIY	ICKQWTEILH	FTEHSGLTTG
490	500
VAFGHHAKFI	ASTGMDRSLK	FYSL