AiPD: Autoinhibited Protein Database

P09012

Gene name	SNRPA
Protein name	U1 small nuclear ribonucleoprotein A
Names	U1 snRNP A, U1-A, U1A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6626
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

93-169 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

93-169 (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

93 structures for P09012

Entry ID	Method	Resolution	Chain	Position	Source
1AUD	NMR	-	A	2-102	PDB
1DRZ	X-ray	230 A	A	2-98	PDB
1DZ5	NMR	-	A/B	2-102	PDB
1FHT	NMR	-	A	2-117	PDB
1M5K	X-ray	240 A	C/F	1-100	PDB
1M5O	X-ray	220 A	C/F	1-100	PDB
1M5P	X-ray	260 A	C/F	1-100	PDB
1M5V	X-ray	240 A	C/F	1-100	PDB
1NU4	X-ray	180 A	A/B	2-98	PDB
1OIA	X-ray	240 A	A/B	1-95	PDB
1SJ3	X-ray	220 A	P	1-100	PDB
1SJ4	X-ray	270 A	P	1-100	PDB
1SJF	X-ray	275 A	A	1-100	PDB
1U6B	X-ray	310 A	A	1-98	PDB
1URN	X-ray	192 A	A/B/C	2-98	PDB
1VBX	X-ray	270 A	A	1-100	PDB
1VBY	X-ray	290 A	A	1-100	PDB
1VBZ	X-ray	280 A	A	1-100	PDB
1VC0	X-ray	250 A	A	1-100	PDB
1VC5	X-ray	340 A	A	1-100	PDB
1VC6	X-ray	280 A	A	1-100	PDB
1ZZN	X-ray	337 A	A	1-98	PDB
2A3J	NMR	-	A	3-80	PDB
2NZ4	X-ray	250 A	A/B/C/D	5-98	PDB
2OIH	X-ray	240 A	A	2-100	PDB
2OJ3	X-ray	290 A	A	2-100	PDB
2U1A	NMR	-	A	195-282	PDB
3BO2	X-ray	331 A	A	4-98	PDB
3BO3	X-ray	340 A	A	4-98	PDB
3BO4	X-ray	333 A	A	4-98	PDB
3CUL	X-ray	280 A	A/B	1-96	PDB
3CUN	X-ray	300 A	A/B	1-98	PDB
3EGZ	X-ray	220 A	A	1-98	PDB
3G8S	X-ray	310 A	A/B/C/D	1-98	PDB
3G8T	X-ray	300 A	A/B/C/D	1-98	PDB
3G96	X-ray	301 A	A/B/C/D	1-98	PDB
3G9C	X-ray	290 A	A/B/C/D	1-98	PDB
3HHN	X-ray	299 A	B/D	2-98	PDB
3IIN	X-ray	418 A	A	4-98	PDB
3IRW	X-ray	270 A	P	1-98	PDB
3IWN	X-ray	320 A	C/D	6-96	PDB
3K0J	X-ray	310 A	A/B/C/D	2-97	PDB
3L3C	X-ray	285 A	A/B/C/D	7-96	PDB
3MUM	X-ray	290 A	P	1-98	PDB
3MUR	X-ray	300 A	P	1-98	PDB
3MUT	X-ray	300 A	P	1-98	PDB
3MUV	X-ray	320 A	P	1-98	PDB
3MXH	X-ray	230 A	P	1-98	PDB
3P49	X-ray	355 A	B	1-98	PDB
3PGW	X-ray	440 A	A/P	1-282	PDB
3R1H	X-ray	315 A	A/D	1-98	PDB
3R1L	X-ray	312 A	A/D	1-98	PDB
3UCU	X-ray	280 A	P	1-98	PDB
3UCZ	X-ray	280 A	P	1-98	PDB
3UD3	X-ray	310 A	P	1-98	PDB
3UD4	X-ray	270 A	P	1-98	PDB
4C4W	X-ray	295 A	A/B/E/F	1-102	PDB
4PR6	X-ray	230 A	A	4-96	PDB
4PRF	X-ray	240 A	A	1-100	PDB
4W90	X-ray	312 A	B	6-96	PDB
4W92	X-ray	321 A	B	6-96	PDB
4YB1	X-ray	208 A	P	7-97	PDB
5DDO	X-ray	310 A	C/G	2-98	PDB
5DDP	X-ray	230 A	C/D	2-98	PDB
5DDQ	X-ray	240 A	C/D	2-98	PDB
5DDR	X-ray	260 A	C/D	2-98	PDB
5FJ4	X-ray	295 A	A/B/E/F	1-102	PDB
6LAS	X-ray	271 A	C/D/E	6-96	PDB
6LAU	X-ray	311 A	C/D/E	6-96	PDB
6LAX	X-ray	270 A	C/D/E	6-96	PDB
6LAZ	X-ray	276 A	C/D/E	6-96	PDB
6QX9	EM	328 A	1A	1-282	PDB
6SQN	X-ray	205 A	A/B/C	2-98	PDB
6SQQ	X-ray	237 A	AAA/BBB/CCC	1-98	PDB
6SQT	X-ray	184 A	AAA/BBB/CCC	1-98	PDB
6SQV	X-ray	245 A	AAA/BBB/CCC/DDD	1-97	PDB
6SR7	X-ray	186 A	AAA/BBB/CCC/DDD	1-98	PDB
6XH0	X-ray	310 A	A	6-90	PDB
6XH1	X-ray	260 A	A	6-90	PDB
6XH2	X-ray	171 A	A	2-93	PDB
6XH3	X-ray	235 A	A	6-93	PDB
7AEP	NMR	-	A	157-282	PDB
7B0Y	EM	360 A	c	1-282	PDB
7D7V	X-ray	280 A	C	5-96	PDB
7DLZ	X-ray	300 A	A/B/C/D	1-102	PDB
7DWH	X-ray	310 A	A/B/C/D	1-102	PDB
7LHX	X-ray	220 A	A	1-98	PDB
7QR3	X-ray	218 A	A/B	7-97	PDB
7QR4	X-ray	283 A	A	7-97	PDB
7VPX	EM	300 A	M	1-282	PDB
8GXB	X-ray	215 A	C/D/E/F/G	2-98	PDB
8GXC	X-ray	250 A	C/D/E/F/G	2-98	PDB
AF-P09012-F1	Predicted				AlphaFoldDB

200 variants for P09012

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000515471 CA405950371 rs1555775208	33	I>T	Spliceosomepathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA405950369 RCV000515473 rs1555775207	33	I>V	Spliceosomepathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA405950375 rs1555775209 RCV000515464	34	F>I	Spliceosomepathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA405997917 rs1269188582	4	P>A		No	ClinGen gnomAD
rs781175552 CA9451382	4	P>L		No	ClinGen ExAC gnomAD
CA308484365 rs916702751	5	E>D		No	ClinGen TOPMed
CA9451383 rs528661832	5	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1443139173 CA405997968	7	R>H		No	ClinGen TOPMed gnomAD
CA9451386 rs546755498	8	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA405997985 rs1471575236	8	P>R		No	ClinGen gnomAD
rs1412473630 CA405998015	10	H>Q		No	ClinGen gnomAD
rs1454991457 CA405998018	11	T>A		No	ClinGen gnomAD
rs771202299 CA9451387	11	T>S		No	ClinGen ExAC TOPMed gnomAD
CA308484372 rs779361733	13	Y>C		No	ClinGen Ensembl
CA405998029 rs1396171395	13	Y>N		No	ClinGen gnomAD
rs772602431 CA9451390	14	I>V		No	ClinGen ExAC TOPMed gnomAD
rs761336247 CA9451393	16	N>S		No	ClinGen ExAC TOPMed gnomAD
rs761336247 CA9451392	16	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1255699323 CA405998066	18	N>S		No	ClinGen gnomAD
rs1380772068 CA405998113	24	D>G		No	ClinGen gnomAD
rs773649543	29	S>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs149329472 CA405950360	31	Y>*		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs144586987 CA308456919 COSM108934	38	G>C	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs755452689 CA9451433	39	Q>H		No	ClinGen ExAC TOPMed gnomAD
COSM1612282 CA405950425 rs1188591574	41	L>V	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA405950458 rs1369394518	46	S>*		No	ClinGen gnomAD
CA9451437 rs774066197	46	S>T		No	ClinGen ExAC gnomAD
rs373207469 CA9451439	47	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9451438 COSM1393884 rs368973112	47	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1436115689 CA405950466	48	S>N		No	ClinGen gnomAD
CA9451443 rs143591779	51	M>T		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA9451445 rs776383821	53	G>C		No	ClinGen ExAC gnomAD
CA308456952 rs962283423	54	Q>E		No	ClinGen TOPMed
CA405950527 rs1265199667	57	V>I		No	ClinGen TOPMed
CA405950532 rs1266038841	58	I>V		No	ClinGen gnomAD
rs1209004912 CA405950538	59	F>I		No	ClinGen gnomAD
rs1292627288 CA405950578	64	S>G		No	ClinGen Ensembl
rs750727750 COSM174676 CA9451449	65	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA405950616 rs1411740715	70	R>C		No	ClinGen gnomAD
TCGA novel	70	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9451453 rs755293335	72	M>I		No	ClinGen ExAC gnomAD
CA9451454 rs781731783	73	Q>*		No	ClinGen ExAC gnomAD
rs1447305115 CA405950658	76	P>H		No	ClinGen gnomAD
CA308456986 CA308456987 rs2230694	80	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753084366 CA9451455	80	K>R		No	ClinGen ExAC gnomAD
CA405950701 rs1303514241	82	M>I		No	ClinGen gnomAD
rs778280948 CA9451457	82	M>T		No	ClinGen ExAC gnomAD
TCGA novel	83	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9451486 rs773157493	83	R>H	Variant assessed as Somatic; 9.256e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9451487 rs763038967	85	Q>*		No	ClinGen ExAC gnomAD
CA308458015 rs868291786	87	A>V		No	ClinGen Ensembl
rs770937932 CA9451488	88	K>N		No	ClinGen ExAC gnomAD
CA9451490 rs374456745	92	D>G		No	ClinGen ESP ExAC gnomAD
rs1168040102 CA405950786	93	I>N		No	ClinGen gnomAD
rs1469325396 CA405950785	93	I>V		No	ClinGen TOPMed
CA9451492 rs752981928	94	I>T		No	ClinGen ExAC gnomAD
rs767980536 CA9451491	94	I>V		No	ClinGen ExAC gnomAD
rs926944470 CA405950825	98	K>N		No	ClinGen TOPMed gnomAD
rs1435292510 CA405950821	98	K>R		No	ClinGen gnomAD
CA308458028 rs138535346	100	T>S		No	ClinGen Ensembl
CA405950857 rs1340632683	103	E>D		No	ClinGen gnomAD
CA405950860 rs1216874623	104	R>W		No	ClinGen TOPMed gnomAD
CA9451496 rs757989135	106	R>C		No	ClinGen ExAC gnomAD
rs765984414 CA9451497	106	R>H	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765984414 CA405950874	106	R>L		No	ClinGen ExAC TOPMed gnomAD
rs765984414 CA9451498	106	R>P		No	ClinGen ExAC TOPMed gnomAD
rs540507848 CA9451501	108	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754567162 CA9451500	108	R>W		No	ClinGen ExAC TOPMed
TCGA novel	110	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405950916 rs367777373	112	K>N		No	ClinGen ESP TOPMed
rs1403454509 CA405950914	112	K>R		No	ClinGen TOPMed
rs777699006 CA9451504	113	P>L		No	ClinGen ExAC gnomAD
CA405950919 rs1373748877	113	P>S		No	ClinGen TOPMed gnomAD
rs771064652 CA9451506	115	S>G		No	ClinGen ExAC gnomAD
rs1387887876 CA405950940	116	Q>P		No	ClinGen TOPMed
CA9451507 rs555710684	118	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9451508 rs746136877	119	P>A		No	ClinGen ExAC TOPMed gnomAD
rs557419180 CA9451509	119	P>L		No	ClinGen ExAC TOPMed gnomAD
rs746136877 CA405950959	119	P>S		No	ClinGen ExAC TOPMed gnomAD
CA405950970 rs1316192455	121	T>A		No	ClinGen gnomAD
CA308458120 rs934938827	122	K>N		No	ClinGen TOPMed gnomAD
CA405950989 rs1283008806	124	A>T		No	ClinGen gnomAD
rs764454884 CA9451512	124	A>V		No	ClinGen ExAC gnomAD
CA405950995 rs146345577	125	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs146345577 CA9451513	125	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9451515 rs762398926 CA9451514	128	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	129	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA308458130 rs1008551715	129	G>V		No	ClinGen TOPMed gnomAD
TCGA novel	130	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9451517 rs754474688	131	T>I		No	ClinGen ExAC gnomAD
rs754474688 CA9451518	131	T>N		No	ClinGen ExAC gnomAD
rs868280248 CA308458145	132	P>L		No	ClinGen Ensembl
CA9451521 rs368200642	133	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA308458167 rs1051496110	134	V>L		No	ClinGen gnomAD
TCGA novel	135	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405951047 rs1158032963	135	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs372396909 CA9451525	137	V>D		No	ClinGen ESP ExAC gnomAD
rs1329322431 CA405951083	140	P>L		No	ClinGen TOPMed
rs772134637 CA9451526	141	V>G		No	ClinGen ExAC gnomAD
CA405951089 rs1599728561	142	P>A		No	ClinGen Ensembl
CA9451527 rs775580802	142	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA405951118 rs1211507368	144	M>I		No	ClinGen gnomAD
CA9451544 rs780169966 COSM306047	145	P>L	Variant assessed as Somatic; 9.53e-05 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA308459976 rs780169966	145	P>R		No	ClinGen ExAC TOPMed gnomAD
CA405951121 rs1282300541	145	P>S		No	ClinGen gnomAD
CA9451546 rs768970890	146	P>L		No	ClinGen ExAC TOPMed gnomAD
CA405951125 rs1251013621	146	P>S		No	ClinGen gnomAD
rs748549557 CA9451548	147	M>I		No	ClinGen ExAC
rs781528211 CA9451547	147	M>T		No	ClinGen ExAC gnomAD
rs1454281429 CA405951147	149	Q>P		No	ClinGen TOPMed gnomAD
rs1454281429 CA405951148	149	Q>R		No	ClinGen TOPMed gnomAD
CA9451549 COSM3742958 rs770222165	150	A>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs771537539 CA9451552	152	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs775040575 CA9451553	152	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760283374 CA9451554	153	I>F		No	ClinGen ExAC gnomAD
CA308460018 rs760283374	153	I>V		No	ClinGen ExAC gnomAD
rs753439418 CA9451556 CA308460033	154	M>I		No	ClinGen ExAC
CA9451555 rs763766715	154	M>T		No	ClinGen ExAC gnomAD
CA308460037 rs763024094	155	H>N		No	ClinGen gnomAD
CA405951179 rs1568485957	155	H>P		No	ClinGen Ensembl
CA9451557 rs761601883	156	H>R		No	ClinGen ExAC gnomAD
CA405951192 rs1295530532	157	M>V		No	ClinGen gnomAD
rs1339930964 CA405951204	158	P>L		No	ClinGen gnomAD
CA9451560 rs758335812	159	G>S		No	ClinGen ExAC gnomAD
CA9451562 rs751695164	161	P>L		No	ClinGen ExAC TOPMed gnomAD
CA405951221 rs751695164	161	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA9451561 rs780040463	161	P>S		No	ClinGen ExAC gnomAD
CA405951243 rs1468659955	164	M>I		No	ClinGen gnomAD
CA405951237 rs1453952213	164	M>L		No	ClinGen TOPMed
rs1453952213 CA405951238	164	M>V		No	ClinGen TOPMed
CA9451564 rs535313716	165	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA9451568 rs778183482	168	G>R		No	ClinGen ExAC gnomAD
TCGA novel	169	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868113155 CA308460094	169	M>L		No	ClinGen Ensembl
CA308460116 rs984466689	170	I>T		No	ClinGen TOPMed gnomAD
rs1395435722 CA405951282	171	P>A		No	ClinGen gnomAD
rs774679356 CA9451571	172	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9451572 rs774679356	172	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA405951290 rs1363569282	172	P>S		No	ClinGen TOPMed gnomAD
CA405951288 rs1363569282	172	P>T		No	ClinGen TOPMed gnomAD
rs1271073631 CA405951298	174	G>S		No	ClinGen Ensembl
rs761443984 CA9451575	174	G>V		No	ClinGen ExAC gnomAD
rs764992919 CA9451576	176	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9451577 rs773032435	177	P>R		No	ClinGen ExAC gnomAD
rs1309198909 CA405951316	177	P>S		No	ClinGen TOPMed gnomAD
CA405951327 rs1335039770	179	Q>*		No	ClinGen TOPMed gnomAD
CA405951334 rs1215227529	180	I>V		No	ClinGen gnomAD
rs766365358 CA9451579	183	G>E		No	ClinGen ExAC gnomAD
CA405951359 rs1490478676	184	A>S		No	ClinGen Ensembl
CA405951364 rs1338507817	185	M>V		No	ClinGen TOPMed
rs374666711 CA9451580	186	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1055371467 CA308460134	187	P>L		No	ClinGen TOPMed gnomAD
CA405951380 rs1055371467	187	P>Q		No	ClinGen TOPMed gnomAD
CA405951384 rs1419085501	188	Q>*		No	ClinGen gnomAD
CA9451583 rs753022671	189	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA405951390 rs753022671	189	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA9451584 rs756380978	192	P>A		No	ClinGen ExAC gnomAD
rs756380978 CA308460176	192	P>S		No	ClinGen ExAC gnomAD
CA9451585 rs778037728	193	G>R		No	ClinGen ExAC
rs749693100 CA9451586	194	Q>H		No	ClinGen ExAC gnomAD
rs757513318 CA9451587	195	M>V		No	ClinGen ExAC gnomAD
rs779487577 CA9451588	196	P>A		No	ClinGen ExAC gnomAD
CA9451590 rs768214332	199	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	200	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760821013 CA9451620	201	L>F		No	ClinGen ExAC gnomAD
CA9451621 rs764013546	202	S>A		No	ClinGen ExAC TOPMed gnomAD
rs754147722 CA9451622	203	E>G		No	ClinGen ExAC
rs761919904 CA9451623	204	N>K		No	ClinGen ExAC gnomAD
CA9451624 rs765631091	206	P>L		No	ClinGen ExAC TOPMed gnomAD
CA405951509 rs765631091	206	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1174350037 CA405951558	213	T>N		No	ClinGen gnomAD
rs1599730255 CA405951557	213	T>S		No	ClinGen Ensembl
rs866431453 CA308460534	214	N>S		No	ClinGen TOPMed
rs1321421699 CA405951605	220	N>S		No	ClinGen TOPMed
rs777130046 CA9451630	221	E>K		No	ClinGen ExAC gnomAD
TCGA novel	223	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1442467153 CA405951646	226	M>T		No	ClinGen gnomAD
rs749015965 CA9451631	230	Q>R		No	ClinGen ExAC gnomAD
CA308461493 rs375879544	234	F>L		No	ClinGen ESP
CA405951736 rs1275115802	237	V>I		No	ClinGen gnomAD
rs773487223 CA9451661	247	A>T		No	ClinGen ExAC gnomAD
rs766783077 CA9451663	253	N>D		No	ClinGen ExAC gnomAD
CA308461516 rs899232722	253	N>S		No	ClinGen gnomAD
CA9451664 rs774552241	254	E>Q		No	ClinGen ExAC gnomAD
CA405951859 rs1418631226	255	V>E		No	ClinGen gnomAD
rs1327486369 CA405951855	255	V>I		No	ClinGen gnomAD
rs1426663952 CA405951868	256	Q>H		No	ClinGen gnomAD
TCGA novel	257	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753191262 CA9451667	258	G>A		No	ClinGen ExAC gnomAD
TCGA novel	258	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	260	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405951894 rs1355291943	261	R>G		No	ClinGen gnomAD
CA405951895 rs1474315870	261	R>H		No	ClinGen TOPMed
rs764836571 CA9451669	262	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9451670 rs750149923	270	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs779715184 CA9451672	272	N>S		No	ClinGen ExAC gnomAD
CA405951981 rs1218777470	274	A>T		No	ClinGen gnomAD
CA405952024 rs1255126956	279	F>L		No	ClinGen gnomAD
rs754741975 CA9451674	282	K>M		No	ClinGen ExAC gnomAD
CA9451675 rs780993076	283	K>Q		No	ClinGen ExAC gnomAD

No associated diseases with P09012

4 regional properties for P09012

Type	Name	Position	InterPro Accession
domain	RNA recognition motif domain	10 - 89	IPR000504-1
domain	RNA recognition motif domain	208 - 282	IPR000504-2
domain	U1 small nuclear ribonucleoprotein A, RNA recognition motif 1	7 - 95	IPR034407
domain	U1 small nuclear ribonucleoprotein A, RNA recognition motif 2	197 - 282	IPR034409

Functions

		Description
EC Number
Subcellular Localization	Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
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.
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.
U1 snRNP	A ribonucleoprotein complex that contains small nuclear RNA U1, a heptameric ring of Sm proteins, as well as several proteins that are unique to the U1 snRNP, most of which remain associated with the U1 snRNA both while the U1 snRNP is free or assembled into a series of spliceosomal complexes.
U4/U6 x U5 tri-snRNP complex	A ribonucleoprotein complex that is formed by the association of the U4/U6 and U5 snRNPs.

5 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
identical protein binding	Binding to an identical protein or proteins.
RNA binding	Binding to an RNA molecule or a portion thereof.
U1 snRNA binding	Binding to a U1 small nuclear RNA (U1 snRNA).
U1 snRNP binding	Binding to a U1 small nuclear ribonucleoprotein particle.

2 GO annotations of biological process

Name	Definition
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.
regulation of mRNA polyadenylation	Any process that modulates the frequency, rate or extent of mRNA polyadenylation.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P08579	SNRPB2	U2 small nuclear ribonucleoprotein B''	Homo sapiens (Human)	PR
Q6ZRY4	RBPMS2	RNA-binding protein with multiple splicing 2	Homo sapiens (Human)	PR

10	20	30	40	50	60
MAVPETRPNH	TIYINNLNEK	IKKDELKKSL	YAIFSQFGQI	LDILVSRSLK	MRGQAFVIFK
70	80	90	100	110	120
EVSSATNALR	SMQGFPFYDK	PMRIQYAKTD	SDIIAKMKGT	FVERDRKREK	RKPKSQETPA
130	140	150	160	170	180
TKKAVQGGGA	TPVVGAVQGP	VPGMPPMTQA	PRIMHHMPGQ	PPYMPPPGMI	PPPGLAPGQI
190	200	210	220	230	240
PPGAMPPQQL	MPGQMPPAQP	LSENPPNHIL	FLTNLPEETN	ELMLSMLFNQ	FPGFKEVRLV
250	260	270	280
PGRHDIAFVE	FDNEVQAGAA	RDALQGFKIT	QNNAMKISFA	KK