AiPD: Autoinhibited Protein Database

Q9ULW3

Gene name	ABT1
Protein name	Activator of basal transcription 1
Names	Fz-10, hFz10, FzE7, hABT1, Basal transcriptional activator
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29777
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-69 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-69 (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

1 structures for Q9ULW3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9ULW3-F1	Predicted				AlphaFoldDB

295 variants for Q9ULW3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs782050243	1	M>?	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA363240865 rs1554144517	2	E>K		No	ClinGen gnomAD
CA3675308 rs782100852	3	A>V		No	ClinGen ExAC TOPMed gnomAD
CA363240878 rs1554144520	4	E>Q		No	ClinGen gnomAD
CA3675310 rs781878046	5	E>K		No	ClinGen ExAC gnomAD
CA363240887 rs781878046	5	E>Q		No	ClinGen ExAC gnomAD
rs782679594 COSM3715373 CA363240895	6	S>*	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3675311 rs782543304	6	S>A		No	ClinGen ExAC gnomAD
rs782679594 CA3675312	6	S>L		No	ClinGen ExAC gnomAD
TCGA novel	7	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs563288722 CA3675313	7	E>K		No	ClinGen ExAC TOPMed gnomAD
CA363240898 rs563288722	7	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1554144525 CA363240904	8	K>Q		No	ClinGen gnomAD
CA363240912 rs1581468821	9	A>T		No	ClinGen Ensembl
CA3675315 rs782603117	10	A>S		No	ClinGen ExAC TOPMed gnomAD
rs782603117 CA363240918	10	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3675316 rs782230542	10	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3675317 rs782373630	11	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1347178825 CA363240929	12	E>*		No	ClinGen TOPMed
CA363240934 CA363240933 rs149473775	12	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs143081387 CA3675320	13	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3675319 rs143081387	13	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA363240945 rs1554144529	14	E>G		No	ClinGen gnomAD
rs1309980592 CA363240942	14	E>Q		No	ClinGen TOPMed gnomAD
CA136328555 rs1022530159	15	P>L		No	ClinGen gnomAD
rs991099116 CA136328554	15	P>S		No	ClinGen gnomAD
CA3675321 rs781937269	16	L>Q		No	ClinGen ExAC gnomAD
CA3675322 rs536915270	18	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA136328558 rs968684075	18	G>R		No	ClinGen Ensembl
CA363240972 rs1354105304	19	T>K		No	ClinGen TOPMed gnomAD
CA363240971 rs1554144536	19	T>S		No	ClinGen gnomAD
CA3675324 rs781995841	20	E>D		No	ClinGen ExAC gnomAD
CA3675325 rs782140804	21	Q>E		No	ClinGen ExAC gnomAD
CA3675327 rs367775660	22	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3675326 rs367775660	22	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363241001 rs1430510159	24	D>V		No	ClinGen TOPMed gnomAD
TCGA novel	24	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554144537 CA363241006	25	A>T		No	ClinGen gnomAD
rs371015299 CA3675329	25	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554144542 CA363241017	26	E>D		No	ClinGen gnomAD
TCGA novel	26	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781816337 CA3675331	27	E>D		No	ClinGen ExAC gnomAD
rs976133749 CA136328571	28	E>K		No	ClinGen gnomAD
rs782489929 CA363241034	29	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs782489929 CA3675332	29	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs573455866 CA3675335	30	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1266116791 CA363241054	31	E>D		No	ClinGen TOPMed gnomAD
rs1554144545 CA363241055	32	S>T		No	ClinGen gnomAD
rs782202066 CA363241062	33	E>*		No	ClinGen ExAC gnomAD
CA3675337 rs782202066	33	E>K		No	ClinGen ExAC gnomAD
rs1480687677 CA363241068	34	E>K		No	ClinGen TOPMed gnomAD
CA3675338 rs782466757	35	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1581468949 CA363241086	36	A>V		No	ClinGen Ensembl
CA363241088 rs1554144548	37	C>R		No	ClinGen gnomAD
CA363241092 rs1554144549	37	C>S		No	ClinGen gnomAD
CA363241094 rs1231899282	37	C>W		No	ClinGen TOPMed
rs1554144551 CA363241098	38	G>D		No	ClinGen gnomAD
rs1202011165 CA363241095	38	G>S		No	ClinGen TOPMed
CA3675339 rs536052779	39	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs552789549 CA363241106 CA136328583	39	S>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA363241113 rs1554144553	40	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3675340 rs782242254	40	K>R		No	ClinGen ExAC gnomAD
rs1222791089 CA363241115	41	K>E		No	ClinGen TOPMed
rs3800302 CA363241121	41	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363241123 rs1224351105	42	R>P		No	ClinGen TOPMed
rs782027697 CA3675343	42	R>W		No	ClinGen ExAC gnomAD
rs1554144558 CA363241131	43	V>A		No	ClinGen gnomAD
rs1554144557 CA363241126	43	V>I		No	ClinGen gnomAD
CA3675346 rs782317752	44	V>M		No	ClinGen ExAC gnomAD
CA363241141 rs1554144560	45	P>L		No	ClinGen gnomAD
CA136328593 rs888387964	45	P>S		No	ClinGen gnomAD
CA3675348 rs782076734	47	I>M		No	ClinGen ExAC gnomAD
rs1450528643 CA363241154	48	V>M		No	ClinGen TOPMed
TCGA novel	49	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1407276185 CA363241164	49	Y>C		No	ClinGen TOPMed
CA3675350 rs545121699	51	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA3675349 rs782731559	51	G>S		No	ClinGen ExAC TOPMed gnomAD
rs146266057 CA3675353	52	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3675352 rs782794203	52	H>Y		No	ClinGen ExAC gnomAD
rs1581469063 CA363241186	53	I>T		No	ClinGen Ensembl
CA3675354 rs139459203	53	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3675356 rs781843884	54	P>L		No	ClinGen ExAC gnomAD
CA363241194 rs1561909785	55	P>S		No	ClinGen Ensembl
CA3675358 rs781793691	58	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1419083446 CA363241215	58	R>W		No	ClinGen TOPMed gnomAD
CA363241224 rs782573712	60	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3675362 rs782195448	61	H>N		No	ClinGen ExAC gnomAD
rs782340027 CA3675363	61	H>P		No	ClinGen ExAC gnomAD
rs377045670 CA363241234	61	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	61	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3675366 rs782232408	62	V>I		No	ClinGen ExAC TOPMed gnomAD
COSM383450 rs782232408 CA3675365	62	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs782014336 CA3675368	63	R>H		No	ClinGen ExAC TOPMed gnomAD
rs782014336 CA3675367	63	R>L		No	ClinGen ExAC TOPMed gnomAD
CA363241243 rs1554144573	64	N>H		No	ClinGen gnomAD
CA363241249 rs1305015800	64	N>K		No	ClinGen TOPMed
rs1316394756 CA363241248	64	N>S		No	ClinGen TOPMed gnomAD
CA3675369 rs139570163	65	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363241258 rs1554144577	66	L>F		No	ClinGen gnomAD
rs782765729 CA3675372	67	S>G		No	ClinGen ExAC gnomAD
rs149790448 CA3675373	67	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363241268 rs1314664164	68	A>T		No	ClinGen TOPMed gnomAD
CA3675374 rs782152317	68	A>V		No	ClinGen ExAC TOPMed gnomAD
rs782820868 CA3675375	69	Y>C		No	ClinGen ExAC gnomAD
rs1387605021 CA363241274	69	Y>H		No	ClinGen TOPMed
CA136328637 rs1022859057	71	E>K		No	ClinGen gnomAD
CA3675377 rs782461597	72	V>I		No	ClinGen ExAC TOPMed gnomAD
CA363241336 rs1445948377	78	Q>R		No	ClinGen TOPMed gnomAD
rs1385408224 CA363241345	79	A>V		No	ClinGen TOPMed
CA363241368 rs1581469581	81	D>A		No	ClinGen Ensembl
CA363241374 rs144740190	82	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144740190 CA3675405	82	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144740190 CA3675404	82	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782247399 CA3675403	82	R>W		No	ClinGen ExAC gnomAD
CA363241397 rs1419322336	86	R>C		No	ClinGen TOPMed gnomAD
rs1554144673 CA363241399	86	R>H		No	ClinGen gnomAD
CA363241400 rs1554144673	86	R>P		No	ClinGen gnomAD
rs114186056 CA3675407	87	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363241404 rs1554144675	87	K>T		No	ClinGen gnomAD
rs868968300 CA363241421	89	K>R		No	ClinGen Ensembl
rs781785112	89	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1199443918 CA363241418	89	K>E		No	ClinGen TOPMed gnomAD
rs782317107 CA3675409	90	A>E		No	ClinGen ExAC gnomAD
CA3675413 rs374428829	92	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3675412 rs782352605	92	A>P		No	ClinGen ExAC gnomAD
CA363241437 rs782352605	92	A>T		No	ClinGen ExAC gnomAD
CA3675414 rs374428829	92	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3675415 rs782787385	93	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1325543426 CA363241449	94	A>V		No	ClinGen TOPMed
TCGA novel	95	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363241455 rs1365662981	95	G>V		No	ClinGen TOPMed gnomAD
CA363241466 rs1329676700	97	K>T		No	ClinGen TOPMed gnomAD
CA3675420 rs782499564	98	K>R		No	ClinGen ExAC gnomAD
rs1430533894 CA363241480	99	R>Q		No	ClinGen TOPMed gnomAD
rs782793727 CA3675421	99	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3675422 rs560636123	101	Y>D		No	ClinGen 1000Genomes ExAC gnomAD
CA3675423 rs560636123	101	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA363241494 rs1176338571	102	T>S		No	ClinGen TOPMed
CA136328742 rs933609537	105	Y>N		No	ClinGen Ensembl
rs1432089829 CA363241523	106	T>A		No	ClinGen TOPMed
CA3675424 rs782576966	107	E>K		No	ClinGen ExAC gnomAD
TCGA novel	108	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3675425 rs782202284	108	G>E		No	ClinGen ExAC gnomAD
CA363241553 rs1581469705	110	V>G		No	ClinGen Ensembl
TCGA novel	111	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554144704 CA363241574	113	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3675427 rs782604281	116	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782238826 CA3675428	117	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3675429 rs782377397	119	K>Q		No	ClinGen ExAC gnomAD
CA363241619 rs1554144710	120	R>C		No	ClinGen gnomAD
CA363241620 rs782010945	120	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782010945 CA3675430	120	R>P		No	ClinGen ExAC TOPMed gnomAD
CA363241617 rs1554144710	120	R>S		No	ClinGen gnomAD
CA3675432 COSM1181465 rs782312171	121	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA363241628 rs782082481	122	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3675434 rs782082481	122	A>S		No	ClinGen ExAC TOPMed gnomAD
CA363241627 rs782082481 COSM1442693	122	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3675435 rs552345044	122	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	123	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782002448 CA3675436	124	S>G		No	ClinGen ExAC gnomAD
rs782145465 CA3675437	124	S>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782460604 CA3675440	128	T>A		No	ClinGen ExAC gnomAD
rs1554144717 CA363241668	128	T>M		No	ClinGen gnomAD
rs1307360204 CA363241671	129	P>R		No	ClinGen TOPMed gnomAD
CA3675442 rs781848064	129	P>S		No	ClinGen ExAC gnomAD
CA363241674 rs782490659	130	M>L		No	ClinGen ExAC TOPMed gnomAD
rs782490659 CA3675443	130	M>V		No	ClinGen ExAC TOPMed gnomAD
CA363241693 rs1554144720	132	A>G		No	ClinGen gnomAD
rs781877703 CA3675445	133	R>C		No	ClinGen ExAC gnomAD
CA363241697 rs1336640036	133	R>H		No	ClinGen TOPMed gnomAD
rs782567643 CA3675447	135	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA363241709 rs782199636	135	R>H		No	ClinGen ExAC TOPMed gnomAD
rs782199636 CA3675448	135	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1554144722 CA363241724	137	P>R		No	ClinGen gnomAD
rs1160604620 CA363241736	139	R>H		No	ClinGen TOPMed gnomAD
CA363241751 rs1400805322	141	D>G		No	ClinGen TOPMed gnomAD
rs1400805322 CA363241752	141	D>V		No	ClinGen TOPMed gnomAD
CA363241773 rs1379246052	144	N>T		No	ClinGen TOPMed
rs1554144725 CA363241791	146	K>N		No	ClinGen gnomAD
CA363241789 rs1176403323	146	K>R		No	ClinGen TOPMed
rs1554144770 CA363241809	147	Y>F		No	ClinGen gnomAD
rs1554144768 CA363241805	147	Y>H		No	ClinGen gnomAD
CA3675461 rs782137190 COSM1181461	150	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1554144772 CA363241850	153	W>S		No	ClinGen gnomAD
CA363241859 rs1554144775	154	S>C		No	ClinGen gnomAD
rs1561910263 CA363241862 COSM3829868	155	H>Y	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA3675465 rs782446409	158	E>Q		No	ClinGen ExAC gnomAD
rs782670086 CA3675469	161	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA3675470 rs782290662	162	F>L		No	ClinGen ExAC gnomAD
CA363241912 rs1554144777	162	F>S		No	ClinGen gnomAD
rs1554144779 CA363241923	163	E>D		No	ClinGen gnomAD
CA363241926 rs1554144780 COSM1181463	164	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs782312676 CA3675471	164	R>H		No	ClinGen ExAC gnomAD
CA3675472 rs782582907	165	Q>*		No	ClinGen ExAC gnomAD
rs1554144782 CA363241941	166	V>G		No	ClinGen gnomAD
rs782364537 CA3675474	167	R>C		No	ClinGen ExAC gnomAD
rs1554144783 CA363241946	167	R>H		No	ClinGen gnomAD
CA363241970 rs1561910301	171	L>W		No	ClinGen Ensembl
CA3675476 rs61748270	173	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs538835370 CA3675480	180	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA3675482 rs782097640 COSM296148	180	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA363242030 rs782097640	180	R>L		No	ClinGen ExAC gnomAD
rs538835370 CA3675481	180	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1224970187 CA363242039	181	E>D		No	ClinGen TOPMed
CA363242045 rs1360394619	182	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3675483 rs199547663	185	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1554144784 CA363242064	185	Y>H		No	ClinGen TOPMed
rs1554144785 CA363242071	186	L>I		No	ClinGen gnomAD
CA136328840 rs113670588	186	L>P		No	ClinGen Ensembl
CA363242092 rs1554144787	189	V>M		No	ClinGen gnomAD
rs558509966 CA3675485	191	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs781888378 CA3675484	191	R>W		No	ClinGen ExAC gnomAD
CA363242109 rs1554144796	192	G>E		No	ClinGen gnomAD
CA136328845 rs782771069	192	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3675486 rs568927550	193	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3675487 rs781809303	195	F>Y		No	ClinGen ExAC
CA3675488 rs782468756	196	L>I		No	ClinGen ExAC TOPMed gnomAD
CA3675489 rs782633323	197	A>E		No	ClinGen ExAC
rs151288548 CA3675490	199	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs782291202 CA363242174	202	P>L		No	ClinGen ExAC gnomAD
rs782291202 CA3675494	202	P>R		No	ClinGen ExAC gnomAD
CA363242180 rs1456193162	203	A>V		No	ClinGen TOPMed
rs140562891 CA3675495	204	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1181462 rs375548433 CA136328862	204	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3675496 rs375548433	204	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1561910374 CA363242186	205	P>S		No	ClinGen Ensembl
CA3675498 rs537569631	206	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs367868700 CA3675499	208	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1561910386 CA363242222	210	T>I		No	ClinGen Ensembl
rs1266860681 COSM1697000 CA363242239	213	Q>E	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1554144807 CA363242247	214	R>C		No	ClinGen gnomAD
COSM1292269 rs371740280 CA3675500	214	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA363242269 rs1554144809	217	E>D		No	ClinGen gnomAD
rs781923627 CA3675502	219	E>G		No	ClinGen ExAC gnomAD
CA3675503 rs375042007	220	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1050530186 CA136328877	222	A>G		No	ClinGen gnomAD
CA3675504 rs199766968	222	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA136328879 rs889380574	223	R>C		No	ClinGen TOPMed gnomAD
CA363242301 rs889380574	223	R>G		No	ClinGen TOPMed gnomAD
CA363242302 rs1285767853	223	R>H		No	ClinGen TOPMed
CA3675505 rs781840823	226	A>S		No	ClinGen ExAC gnomAD
TCGA novel	226	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150105438 CA136328883	227	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
CA3675506 rs782519551	227	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1561910420 CA363242332	228	P>L		No	ClinGen Ensembl
TCGA novel	228	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3675509 rs782545015	228	P>S		No	ClinGen ExAC gnomAD
CA3675510 rs574503291	229	G>R		No	ClinGen 1000Genomes ExAC gnomAD
COSM595521 rs782192030 CA3675512	231	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1554144814 CA363242346	231	R>L		No	ClinGen gnomAD
CA363242354 rs1300147418	232	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1554144816 CA363242349	232	E>K		No	ClinGen gnomAD
CA3675516 rs782467653	233	R>P		No	ClinGen ExAC TOPMed gnomAD
rs782467653 CA363242359	233	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1554144819 CA363242358	233	R>W		No	ClinGen Ensembl
CA363242361 rs138547122	234	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3675517 rs138547122	234	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA363242368 rs1554144825	235	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA136328900 rs897824993	235	R>H		No	ClinGen TOPMed gnomAD
CA363242370 rs897824993	235	R>L		No	ClinGen TOPMed gnomAD
rs782240371 CA3675518	236	L>R		No	ClinGen ExAC gnomAD
CA3675519 rs782391830	237	A>S		No	ClinGen ExAC gnomAD
rs782032402 CA3675520	238	T>S		No	ClinGen ExAC gnomAD
CA363242403 rs1554144828	241	D>G		No	ClinGen gnomAD
TCGA novel	242	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3675521 rs782187306	244	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1181466 CA3675522 rs782331939	244	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs782187306 CA363242422	244	R>S		No	ClinGen ExAC TOPMed gnomAD
CA3675523 rs781962034	245	S>C		No	ClinGen ExAC gnomAD
rs782106092 CA3675524	246	N>D		No	ClinGen ExAC gnomAD
rs1554144832 CA363242449	248	G>V		No	ClinGen gnomAD
rs1554144833 CA363242452	249	L>V		No	ClinGen TOPMed
CA3675526 rs554511936	251	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1196984828 CA363242499	256	A>D		No	ClinGen TOPMed gnomAD
CA363242500 rs1196984828	256	A>G		No	ClinGen TOPMed gnomAD
CA363242506 rs782814898	257	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3675528 rs782814898	257	P>R		No	ClinGen ExAC TOPMed gnomAD
CA363242509 rs1561910494	258	P>S		No	ClinGen Ensembl
CA363242514 rs781785101	259	P>A		No	ClinGen ExAC TOPMed gnomAD
CA363242517 rs1554144837	259	P>L		No	ClinGen gnomAD
rs781785101 CA3675529	259	P>S		No	ClinGen ExAC TOPMed gnomAD
rs782728748 CA3675531	260	S>L		No	ClinGen ExAC gnomAD
rs1554144840 CA363242532	262	S>G		No	ClinGen Ensembl
rs1554144842 CA363242547	263	M>I		No	ClinGen gnomAD
CA363242540 rs1554144841	263	M>V		No	ClinGen gnomAD
rs1554144843 CA363242552	264	E>V		No	ClinGen gnomAD
CA3675534 rs782639915	265	G>*		No	ClinGen ExAC TOPMed gnomAD
rs1554144844 CA363242559	265	G>E		No	ClinGen gnomAD
CA363242558 rs782639915	265	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1230482183 CA363242564	266	P>S		No	ClinGen TOPMed gnomAD
rs1554144849 CA363242590	270	R>T		No	ClinGen gnomAD
rs781905495 CA3675535	271	D>E		No	ClinGen ExAC gnomAD
CA363242602 rs1554144850	272	S>A		No	ClinGen gnomAD
CA3675536 rs782432875	273	S>R		No	ClinGen ExAC gnomAD
CA3675537 rs782597707	273	S>W		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9ULW3

1 regional properties for Q9ULW3

Type	Name	Position	InterPro Accession
conserved_site	Aminoacyl-tRNA synthetase, class I, conserved site	42 - 52	IPR001412

Functions

		Description
EC Number
Subcellular Localization	Nucleus Nucleus, nucleolus
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.
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.
transcription regulator complex	A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

3 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).
RNA binding	Binding to an RNA molecule or a portion thereof.
transcription coactivator activity	A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.

7 GO annotations of biological process

Name	Definition
endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Endonucleolytic cleavage within the 5'-External Transcribed Spacer (ETS) of a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, the 5.8S rRNA, and the Large Subunit (LSU) rRNA in that order from 5' to 3' along the primary transcript. Endonucleolytic cleavage within the 5'-ETS of the pre-RNA is conserved as one of the early steps of rRNA processing in all eukaryotes, but the specific position of cleavage is variable.
endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Endonucleolytic cleavage between the SSU-rRNA and the 5.8S rRNA of an rRNA molecule originally produced as a tricistronic rRNA transcript that contained the Small SubUnit (SSU) rRNA, the 5.8S rRNA, and the Large SubUnit (LSU) rRNA, in that order, from 5' to 3' along the primary transcript.
endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Endonucleolytic cleavage between the 5'-External Transcribed Spacer (5'-ETS) and the 5' end of the SSU-rRNA of a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, the 5.8S rRNA, and the Large Subunit (LSU) rRNA in that order from 5' to 3' along the primary transcript, to produce the mature end of the SSU-rRNA.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
small-subunit processome assembly	The aggregation, arrangement and bonding together of proteins and RNA molecules to form a small-subunit processome.
spinal cord motor neuron differentiation	The process in which neuroepithelial cells in the ventral neural tube acquire specialized structural and/or functional features of motor neurons. Motor neurons innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses from the brain to the periphery. Differentiation includes the processes involved in commitment of a cell to a specific fate.
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

No homologous proteins in AiPD

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

10	20	30	40	50	60
MEAEESEKAA	TEQEPLEGTE	QTLDAEEEQE	ESEEAACGSK	KRVVPGIVYL	GHIPPRFRPL
70	80	90	100	110	120
HVRNLLSAYG	EVGRVFFQAE	DRFVRRKKKA	AAAAGGKKRS	YTKDYTEGWV	EFRDKRIAKR
130	140	150	160	170	180
VAASLHNTPM	GARRRSPFRY	DLWNLKYLHR	FTWSHLSEHL	AFERQVRRQR	LRAEVAQAKR
190	200	210	220	230	240
ETDFYLQSVE	RGQRFLAADG	DPARPDGSWT	FAQRPTEQEL	RARKAARPGG	RERARLATAQ
250	260	270
DKARSNKGLL	ARIFGAPPPS	ESMEGPSLVR	DS