AiPD: Autoinhibited Protein Database

Q16533

Gene name	SNAPC1 (SNAP43)
Protein name	snRNA-activating protein complex subunit 1
Names	SNAPc subunit 1, Proximal sequence element-binding transcription factor subunit gamma, PSE-binding factor subunit gamma, PTF subunit gamma, Small nuclear RNA-activating complex polypeptide 1, snRNA-activating protein complex 43 kDa subunit, SNAPc 43 kDa subunit
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6617
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

250-355 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

250-355 (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

10 structures for Q16533

Entry ID	Method	Resolution	Chain	Position	Source
7XUR	EM	349 A	C	1-268	PDB
7ZWC	EM	320 A	a	1-368	PDB
7ZWD	EM	300 A	a	1-368	PDB
7ZX7	EM	340 A	a	1-368	PDB
7ZX8	EM	300 A	a	1-368	PDB
7ZXE	EM	350 A	a	1-368	PDB
8ITY	EM	390 A	1	1-368	PDB
8IUE	EM	410 A	1	1-368	PDB
8IUH	EM	340 A	1	1-368	PDB
AF-Q16533-F1	Predicted				AlphaFoldDB

324 variants for Q16533

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1326876666 CA389931210	2	G>E		No	ClinGen TOPMed
CA7216272 rs757973050	3	T>A		No	ClinGen ExAC TOPMed gnomAD
rs779765377 CA7216273	3	T>I		No	ClinGen ExAC gnomAD
rs137940550 CA389931226	4	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs565516127 CA7216275	4	P>H		No	ClinGen 1000Genomes ExAC gnomAD
rs565516127 CA389931230	4	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs137940550 CA7216274	4	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7216276 rs777953775	5	P>R		No	ClinGen ExAC gnomAD
CA389931249 rs1343309348	6	G>V		No	ClinGen TOPMed gnomAD
TCGA novel	7	L>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7216279 rs774629397	7	L>R		No	ClinGen ExAC TOPMed gnomAD
CA389931251 rs1365350659	7	L>V		No	ClinGen TOPMed gnomAD
CA7216280 rs746148723	8	Q>H		No	ClinGen ExAC gnomAD
CA389931272 rs772117236	9	T>I		No	ClinGen ExAC gnomAD
CA7216281 rs772117236	9	T>N		No	ClinGen ExAC gnomAD
rs760563867 CA7216283	11	C>R		No	ClinGen ExAC gnomAD
TCGA novel	12	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764113543 CA7216284	13	A>E		No	ClinGen ExAC TOPMed gnomAD
CA7216285 rs764113543	13	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1174255290 CA389931324	14	L>Q		No	ClinGen gnomAD
rs1594897228 CA389931332	15	L>F		No	ClinGen Ensembl
rs1365995654 CA389931336	15	L>P		No	ClinGen TOPMed
rs1168682514 CA389931342	16	S>N		No	ClinGen gnomAD
CA7216287 rs547921284	16	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142300043 CA7216288	17	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7216290 rs765951725	18	F>C		No	ClinGen ExAC gnomAD
rs758169048 CA7216289	18	F>L		No	ClinGen ExAC gnomAD
CA389931385 rs1329722495	20	E>*		No	ClinGen TOPMed gnomAD
rs751139804 CA7216291	21	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7216292 rs756634601	21	T>M		No	ClinGen ExAC gnomAD
rs973019501 CA261794044	23	S>G		No	ClinGen gnomAD
rs778349214 CA7216293	23	S>I		No	ClinGen ExAC gnomAD
rs778349214 CA389931417	23	S>N		No	ClinGen ExAC gnomAD
rs749828838 CA7216294	23	S>R		No	ClinGen ExAC gnomAD
rs757628506 CA7216295	26	F>L		No	ClinGen ExAC gnomAD
rs746058398 CA7216298	27	E>*		No	ClinGen ExAC gnomAD
rs775498003 CA261794071	27	E>D		No	ClinGen ExAC TOPMed gnomAD
COSM433207 CA7216297 rs746058398	27	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7216300 rs747103185	30	T>M		No	ClinGen ExAC gnomAD
rs145953556 CA261794072	31	E>*		No	ClinGen ESP TOPMed
rs1425946470 CA389931528	33	W>*		No	ClinGen gnomAD
rs776623204 CA7216302	35	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1013409830 CA261794079	35	N>S		No	ClinGen TOPMed
CA261794114 rs1042316303	36	M>I		No	ClinGen Ensembl
CA7216304 rs769605474	36	M>L		No	ClinGen ExAC gnomAD
CA7216305 rs74810099	36	M>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7216306 rs74810099	36	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751048046 CA7216309	39	G>E		No	ClinGen ExAC gnomAD
rs1465444569 CA389931585	39	G>R		No	ClinGen gnomAD
rs1315780638 CA389931594	40	T>S		No	ClinGen TOPMed
CA7216310 rs759114235	40	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1264518896 CA389931604	41	I>N		No	ClinGen TOPMed gnomAD
rs1264518896 CA389931606	41	I>T		No	ClinGen TOPMed gnomAD
CA7216311 rs369971847	41	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7216312 rs754348133	42	F>I		No	ClinGen ExAC gnomAD
rs757744375 CA7216314	42	F>L		No	ClinGen ExAC
rs750806778 CA7216315	43	C>G		No	ClinGen ExAC TOPMed gnomAD
rs750806778 CA389931622	43	C>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	45	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	45	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389932148 rs1426239889	53	M>V		No	ClinGen TOPMed
CA389932161 rs1174829335	54	F>S		No	ClinGen TOPMed
rs766695182 CA7216352	56	K>T		No	ClinGen ExAC gnomAD
CA7216353 rs149332356	57	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1379840685 CA389932210	62	A>T		No	ClinGen gnomAD
rs144535324 CA7216354	63	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7216355 rs200916347	64	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753183177	67	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7216358 rs756250420	67	L>F		No	ClinGen ExAC TOPMed gnomAD
CA389932255 rs1442805491	68	P>L		No	ClinGen TOPMed
TCGA novel	69	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA261797904 rs1000832247	69	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA389932261 rs1328474842	70	Y>H		No	ClinGen TOPMed
CA389932281 rs1299143305	72	F>L		No	ClinGen gnomAD
CA261797914 rs550803347	73	Q>*		No	ClinGen 1000Genomes
CA389932300 rs1229135659	75	R>T		No	ClinGen TOPMed
rs148447482 CA7216362	76	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757292475 CA389932305	76	V>F		No	ClinGen ExAC TOPMed gnomAD
CA7216363 rs148447482	76	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7216361 rs757292475	76	V>I		No	ClinGen ExAC TOPMed gnomAD
rs757292475 CA389932304	76	V>L		No	ClinGen ExAC TOPMed gnomAD
CA389932318 rs1316135680	78	A>V		No	ClinGen gnomAD
CA7216364 rs771687434	79	L>S		No	ClinGen ExAC gnomAD
rs1029530737 CA261797952	83	Y>C		No	ClinGen TOPMed
rs746729135 CA7216366	86	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA389932364 rs1189791113	86	Y>H		No	ClinGen gnomAD
CA7216367 rs768128467	87	N>D		No	ClinGen ExAC TOPMed gnomAD
CA7216368 rs201965687	88	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389932381 COSM1728531 rs201965687	88	T>S	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1414947839 CA389932386	89	Q>R		No	ClinGen TOPMed
CA7216369 rs145250202	90	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1036442487 CA389932408	92	Q>H		No	ClinGen TOPMed gnomAD
rs766887525 CA7216370	92	Q>P		No	ClinGen ExAC gnomAD
CA389932415 rs1291612295	94	K>E		No	ClinGen gnomAD
rs1270883879 CA389932465	99	V>L		No	ClinGen gnomAD
rs1166346918 CA389932472	100	A>D		No	ClinGen TOPMed
rs746609227 CA7216385	100	A>S		No	ClinGen ExAC TOPMed
rs1166346918 CA389932473	100	A>V		No	ClinGen TOPMed
TCGA novel	102	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA261798193 rs896614896	102	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1315037229 CA389932508	105	D>G		No	ClinGen gnomAD
rs1226874640 CA389932504	105	D>N		No	ClinGen TOPMed gnomAD
CA389932506 rs1226874640	105	D>Y		No	ClinGen TOPMed gnomAD
CA389932517 rs1216291897	106	E>D		No	ClinGen gnomAD
CA7216388 rs747665400	106	E>K		No	ClinGen ExAC gnomAD
rs769365619 CA7216389	111	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs760139174 CA7216391	112	Q>R		No	ClinGen ExAC gnomAD
CA389932565 rs1179765121	113	D>G		No	ClinGen TOPMed gnomAD
CA7216392 rs772293809	113	D>N		No	ClinGen ExAC gnomAD
CA389932583 rs1386670221	116	N>D		No	ClinGen gnomAD
CA7216393 rs377718987	117	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7216394 rs760932574	117	A>V		No	ClinGen ExAC gnomAD
rs764423690 CA7216395	118	Q>*		No	ClinGen ExAC gnomAD
CA261798262 rs749043067	122	A>G		No	ClinGen gnomAD
rs749043067 CA389932629	122	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1318870975 CA389932641	124	Y>C		No	ClinGen gnomAD
CA7216396 rs753900403	126	F>I		No	ClinGen ExAC TOPMed gnomAD
CA7216397 rs761979712	126	F>L		No	ClinGen ExAC gnomAD
rs1021635694 CA261798294	127	R>G		No	ClinGen Ensembl
rs904140366 CA261798300	128	K>M		No	ClinGen TOPMed gnomAD
CA389932673 rs1338979247	129	L>P		No	ClinGen gnomAD
CA261798302 rs371372763	130	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA7216400 rs371372763	130	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1370410 rs779670803 CA7216401	130	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	131	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1370353015 CA389932680	131	L>P		No	ClinGen TOPMed
TCGA novel	132	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7216403 rs201926413	133	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs780820355 CA7216404	136	H>Y		No	ClinGen ExAC gnomAD
rs1244425079 CA389932721	137	F>C		No	ClinGen gnomAD
rs769168509 CA7216406	137	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	139	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1461520100 CA389932737	140	M>V		No	ClinGen gnomAD
CA389932746 rs1177618616	141	P>A		No	ClinGen gnomAD
rs1385135394 CA389932779	144	L>V		No	ClinGen TOPMed
CA261799368 rs775858634	147	R>G		No	ClinGen Ensembl
rs780700324 CA7216428	147	R>K		No	ClinGen ExAC gnomAD
rs780700324 CA7216429	147	R>T		No	ClinGen ExAC gnomAD
CA389932807 rs1430090575	148	M>I		No	ClinGen gnomAD
CA389932801 rs1206965019	148	M>L		No	ClinGen TOPMed gnomAD
rs769119818 CA7216430	149	K>E		No	ClinGen ExAC gnomAD
CA389932825 rs1168840738	151	K>E		No	ClinGen gnomAD
CA389932832 rs1398852565 CA389932831	151	K>N		No	ClinGen TOPMed gnomAD
rs11628252 CA261799387	153	H>P		No	ClinGen Ensembl
rs1410728709 CA389932844	153	H>Q		No	ClinGen gnomAD
CA261799386 rs201237060	153	H>Y		No	ClinGen Ensembl
rs777173078 COSM956818 CA7216431	154	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7216433 rs748273435	154	R>P		No	ClinGen ExAC gnomAD
rs748273435 CA7216432	154	R>Q		No	ClinGen ExAC gnomAD
rs1345594769 CA389932885	160	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7216435 rs763240605	160	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1345594769 CA389932883	160	E>K		No	ClinGen TOPMed gnomAD
rs891382569 CA261799419	163	D>E		No	ClinGen TOPMed gnomAD
CA7216436 rs763086733	164	P>S		No	ClinGen ExAC gnomAD
rs766429654 CA7216437	165	S>G		No	ClinGen ExAC TOPMed gnomAD
rs759513304 CA7216439	166	D>G		No	ClinGen ExAC TOPMed gnomAD
CA7216438 rs774253673	166	D>N		No	ClinGen ExAC TOPMed
CA7216440 rs371903221	167	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs752512716 CA7216441	167	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7216442 rs755667614	170	K>R		No	ClinGen ExAC gnomAD
rs537148916 CA261799470	172	I>T		No	ClinGen Ensembl
CA7216443 rs763805061	173	T>S		No	ClinGen ExAC gnomAD
rs778613527 CA7216446	176	V>I		No	ClinGen ExAC gnomAD
rs1196131679 CA389932999	177	L>S		No	ClinGen TOPMed
TCGA novel	178	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7216460 rs763851969	180	M>T		No	ClinGen ExAC gnomAD
rs538540322 CA7216459	180	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA389933462 rs1594646771	184	H>R		No	ClinGen Ensembl
CA7216463 rs374396503	185	D>E		No	ClinGen ExAC gnomAD
CA7216462 rs369370696	185	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA389933476 rs1243179855	186	H>R		No	ClinGen TOPMed
rs749972192 CA7216464	189	N>D		No	ClinGen ExAC gnomAD
CA7216465 rs749972192	189	N>H		No	ClinGen ExAC gnomAD
CA389933501 rs1352704249	189	N>K		No	ClinGen gnomAD
CA7216466 rs781765091	190	M>L		No	ClinGen ExAC gnomAD
TCGA novel	191	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7216467 rs753204789	191	K>E		No	ClinGen ExAC TOPMed gnomAD
CA7216468 rs756481893	192	H>Q		No	ClinGen ExAC
rs1351531078 CA389933521	192	H>R		No	ClinGen gnomAD
rs778042154 CA7216469	195	S>P		No	ClinGen ExAC gnomAD
CA389933542 rs771164892	196	V>F		No	ClinGen ExAC TOPMed gnomAD
CA7216471 rs771164892	196	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7216472 rs778907911	197	D>G		No	ClinGen ExAC gnomAD
rs35870807 CA7216473	201	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775484215 CA7216475	202	D>G		No	ClinGen ExAC gnomAD
CA7216474 rs772209222	202	D>H		No	ClinGen ExAC
CA389933603 rs1364831718	205	L>I		No	ClinGen gnomAD
CA389933610 rs1290673333	206	S>N		No	ClinGen Ensembl
rs572038688 CA261805514	206	S>R		No	ClinGen 1000Genomes
rs1465960964 CA389933634	209	K>N		No	ClinGen TOPMed gnomAD
CA389933636 rs1171530305	210	D>N		No	ClinGen gnomAD
rs1362633223 CA389933644	211	D>N		No	ClinGen TOPMed
rs1362633223 CA389933646	211	D>Y		No	ClinGen TOPMed
TCGA novel	213	F>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1470787609 CA389933672	214	D>G		No	ClinGen TOPMed gnomAD
rs977491361 CA261805518	216	I>T		No	ClinGen TOPMed
CA389933685 rs1336919219	216	I>V		No	ClinGen gnomAD
rs768466872 CA7216478	217	K>R		No	ClinGen ExAC TOPMed gnomAD
rs866863361 CA261805532	218	N>K		No	ClinGen Ensembl
CA7216479 rs776317462	219	I>M		No	ClinGen ExAC gnomAD
rs1336327114 CA389933708	219	I>T		No	ClinGen gnomAD
rs1309083468 CA389933705	219	I>V		No	ClinGen gnomAD
rs199990157 CA7216481	220	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7216480 rs199990157	220	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7216482 rs749884200	222	E>D		No	ClinGen ExAC gnomAD
CA389933724 rs1325745459	222	E>G		No	ClinGen gnomAD
CA389933729 rs1257620734	223	H>D		No	ClinGen gnomAD
rs935149301 CA261805576	223	H>L		No	ClinGen TOPMed
CA389933754 COSM1226943 rs1179370859	226	W>*	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1426392043 CA389933764	227	H>R		No	ClinGen TOPMed
CA7216501 rs545537643	232	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1168892706 CA390095000	235	L>V		No	ClinGen gnomAD
rs1426435773 CA390095037	237	S>*		No	ClinGen gnomAD
CA390095030 rs1418124838	237	S>P		No	ClinGen gnomAD
CA7216503 rs772978752	240	N>D		No	ClinGen ExAC TOPMed gnomAD
rs980680075 CA262279103	241	D>N		No	ClinGen Ensembl
rs762737639 CA7216504	242	G>E		No	ClinGen ExAC gnomAD
rs765877018 CA7216506	245	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	245	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7216508 rs761187504	248	G>R		No	ClinGen ExAC gnomAD
CA262279105 rs972134794	251	Q>*		No	ClinGen TOPMed gnomAD
CA7216511 rs75418419	253	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1465911074 CA390095459	255	R>S		No	ClinGen gnomAD
CA390095543 rs1269263023	259	A>E		No	ClinGen TOPMed
CA390095545 rs1269263023	259	A>G		No	ClinGen TOPMed
COSM3815032 CA390095541 rs1402349563	259	A>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1251922970 CA390095587	262	L>S		No	ClinGen TOPMed gnomAD
CA7216531 rs762346560	263	A>E		No	ClinGen ExAC gnomAD
rs762346560 CA7216530	263	A>V		No	ClinGen ExAC gnomAD
rs750808800 CA7216532	267	S>*		No	ClinGen ExAC gnomAD
CA7216534 rs560586315	269	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA390095641 rs1278124769	270	F>S		No	ClinGen gnomAD
CA7216535 rs149182738	272	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7216536 rs754997309	273	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA390095665 rs1398148367	274	I>T		No	ClinGen TOPMed
CA390095672 rs1475891330	275	Q>R		No	ClinGen TOPMed
CA390096016 rs1566591534	276	A>T		No	ClinGen Ensembl
CA7216555 rs759834757	278	K>N		No	ClinGen ExAC gnomAD
rs1439277893 CA390096035	278	K>R		No	ClinGen gnomAD
CA262279550 rs901560215	280	R>G		No	ClinGen TOPMed gnomAD
CA7216556 rs767656613	280	R>S		No	ClinGen ExAC gnomAD
rs371502747 CA262279551	281	R>S		No	ClinGen ESP gnomAD
rs1176037788 CA390096100	282	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs752838381 CA7216557	283	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7216560 rs375863457	283	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA390096116 rs375863457	283	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375863457 CA7216559	283	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752838381 CA7216558	283	R>S		No	ClinGen ExAC TOPMed gnomAD
CA390096125 rs1483023401	284	Q>E		No	ClinGen TOPMed
CA262279552 rs900970505	285	V>I		No	ClinGen Ensembl
CA7216564 rs771775109	288	D>H		No	ClinGen ExAC TOPMed gnomAD
CA390096199 rs771775109	288	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1049624728 CA262279553	289	S>C		No	ClinGen Ensembl
rs1407259144 CA390096250	291	D>G		No	ClinGen gnomAD
CA390096241 rs1364310725	291	D>N		No	ClinGen gnomAD
CA390096270 rs1331163154	292	S>C		No	ClinGen gnomAD
CA262279555 rs371369249	292	S>P		No	ClinGen ESP
rs558578037 CA7216566	297	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA390096344 rs779476626	297	G>R		No	ClinGen ExAC gnomAD
CA7216565 rs779476626	297	G>S		No	ClinGen ExAC gnomAD
CA390096354 rs1228806433	298	Q>E		No	ClinGen gnomAD
CA262279556 rs1011432544	300	Q>P		No	ClinGen TOPMed
rs1357278126 CA390096409	301	V>F		No	ClinGen gnomAD
rs1269716177 CA390096435	302	K>N		No	ClinGen gnomAD
CA262279557 rs748896971	304	T>A		No	ClinGen Ensembl
rs1299762472 CA390096473	305	R>K		No	ClinGen TOPMed
TCGA novel	306	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA262279558 rs967120284	306	K>R		No	ClinGen TOPMed
rs145109867 COSM698195 CA262279559	308	E>D	lung [Cosmic]	No	ClinGen cosmic curated ESP TOPMed
CA262279561 rs201634264	309	K>E		No	ClinGen 1000Genomes
CA390096589 rs1164706955	311	E>D		No	ClinGen gnomAD
CA7216573 rs759620753	311	E>G		No	ClinGen ExAC gnomAD
CA7216572 rs776473825	311	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7216571 rs776473825	311	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs35009885 CA7216574	312	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753038887 CA7216575	312	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1035231509 CA262279563	312	R>S		No	ClinGen TOPMed
rs760828265 CA7216576	315	P>A		No	ClinGen ExAC gnomAD
CA7216577 rs140945950	315	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1435357954 CA390096645	316	A>T		No	ClinGen TOPMed gnomAD
CA390096674 rs1351630245	317	G>V		No	ClinGen Ensembl
rs369115956 CA7216579	318	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1248088740 CA390096731	321	S>C		No	ClinGen TOPMed gnomAD
rs1248088740 CA390096734	321	S>F		No	ClinGen TOPMed gnomAD
CA390096722 rs1207897631	321	S>P		No	ClinGen TOPMed
rs778520307 CA7216580	322	L>P		No	ClinGen ExAC gnomAD
TCGA novel	324	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390096786 rs1250221601	326	G>D		No	ClinGen gnomAD
CA7216593 rs373863055	327	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1413534324 CA390096804	329	Q>*		No	ClinGen gnomAD
COSM956820 rs1566594685 CA390096808	329	Q>H	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs775836828 CA7216595	330	N>I		No	ClinGen ExAC gnomAD
rs1175289942 CA390096819	331	I>L		No	ClinGen TOPMed gnomAD
rs1175289942 CA390096818	331	I>V		No	ClinGen TOPMed gnomAD
CA262280866 rs904298432	333	K>R		No	ClinGen Ensembl
TCGA novel	335	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764227564 CA7216598	337	P>H		No	ClinGen ExAC TOPMed gnomAD
CA7216597 rs764227564	337	P>L		No	ClinGen ExAC TOPMed gnomAD
rs764227564 CA390096865	337	P>R		No	ClinGen ExAC TOPMed gnomAD
CA7216596 rs761021076	337	P>T		No	ClinGen ExAC gnomAD
rs1303277372 CA390096867	338	L>V		No	ClinGen TOPMed gnomAD
rs1308981370 CA390096891	341	S>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA390096907 rs761594882	343	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7216601 rs761594882	343	P>R		No	ClinGen ExAC TOPMed gnomAD
CA262280867 rs1031345618	347	E>A		No	ClinGen Ensembl
TCGA novel	350	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390096954 rs1325974269	350	E>G		No	ClinGen TOPMed gnomAD
CA390096955 rs1325974269	350	E>V		No	ClinGen TOPMed gnomAD
rs750394251 CA7216604	353	S>N		No	ClinGen ExAC TOPMed gnomAD
rs946868665 CA262280868	354	L>F		No	ClinGen TOPMed
rs758174920 CA7216605	356	G>R		No	ClinGen ExAC gnomAD
CA390097005 rs1350251476	357	T>I		No	ClinGen gnomAD
CA7216633 rs368193722	360	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA390097365 COSM193407 rs368193722	360	T>S	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1244432732 CA390097369	361	A>T		No	ClinGen gnomAD
CA390097372 rs1294540605	361	A>V		No	ClinGen gnomAD
rs755630755 CA7216635	362	S>Y		No	ClinGen ExAC gnomAD
rs777191210 CA7216636	363	K>E		No	ClinGen ExAC gnomAD
CA7216638 rs758993532	365	R>G		No	ClinGen ExAC
TCGA novel	365	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs963730743 CA262281157	367	K>R		No	ClinGen Ensembl
rs1047873171 CA262281159	368	H>L		No	ClinGen TOPMed
rs1047873171 CA262281158	368	H>R		No	ClinGen TOPMed
rs1190096774	369	H>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q16533

No regional properties for Q16533

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q16533

Functions

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

3 GO annotations of cellular component

Name	Definition
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
snRNA-activating protein complex	A protein complex that recognizes the proximal sequence element of RNA polymerase II and III snRNA promoters.

3 GO annotations of molecular function

Name	Definition
RNA polymerase II general transcription initiation factor activity	A general transcription initiation factor activity that contributes to transcription start site selection and transcription initiation of genes transcribed by RNA polymerase II. The general transcription factors for RNA polymerase II include TFIIB, TFIID, TFIIE, TFIIF, TFIIH and TATA-binding protein (TBP). In most species, RNA polymerase II transcribes all messenger RNAs (mRNAs), most untranslated regulatory RNAs, the majority of the snoRNAs, four of the five snRNAs (U1, U2, U4, and U5), and other small noncoding RNAs. For some small RNAs there is variability between species as to whether it is transcribed by RNA polymerase II or RNA polymerase III. However there are also rare exceptions, such as Trypanosoma brucei, where RNA polymerase I transcribes certain mRNAs in addition to its normal role in rRNA transcription.
RNA polymerase III general transcription initiation factor activity	A general transcription initiation factor activity that contributes to transcription start site selection and transcription initiation of genes transcribed by RNA polymerase III. Factors required for RNA polymerase III transcription initiation include TFIIIA, TFIIIB and TFIIIC. RNA polymerase III transcribes genes encoding short RNAs, including tRNAs, 5S rRNA, U6 snRNA, the short ncRNA component of RNases P, the mitochondrial RNA processing (MRP) RNA, the signal recognition particle SRP RNA, and in higher eukaryotes a number of micro and other small RNAs, though there is some variability across species as to whether a given small noncoding RNA is transcribed by RNA polymerase II or RNA polymerase III.
sequence-specific DNA binding	Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.

2 GO annotations of biological process

Name	Definition
snRNA transcription by RNA polymerase II	The synthesis of small nuclear RNA (snRNA) from a DNA template by RNA Polymerase II (Pol II), originating at a Pol II promoter.
snRNA transcription by RNA polymerase III	The synthesis of small nuclear RNA (snRNA) from a DNA template by RNA Polymerase III (Pol III), originating at a Pol III promoter.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MGTPPGLQTD	CEALLSRFQE	TDSVRFEDFT	ELWRNMKFGT	IFCGRMRNLE	KNMFTKEALA
70	80	90	100	110	120
LAWRYFLPPY	TFQIRVGALY	LLYGLYNTQL	CQPKQKIRVA	LKDWDEVLKF	QQDLVNAQHF
130	140	150	160	170	180
DAAYIFRKLR	LDRAFHFTAM	PKLLSYRMKK	KIHRAEVTEE	FKDPSDRVMK	LITSDVLEEM
190	200	210	220	230	240
LNVHDHYQNM	KHVISVDKSK	PDKALSLIKD	DFFDNIKNIV	LEHQQWHKDR	KNPSLKSKTN
250	260	270	280	290	300
DGEEKMEGNS	QETERCERAE	SLAKIKSKAF	SVVIQASKSR	RHRQVKLDSS	DSDSASGQGQ
310	320	330	340	350	360
VKATRKKEKK	ERLKPAGRKM	SLRNKGNVQN	IHKEDKPLSL	SMPVITEEEE	NESLSGTEFT

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