AiPD: Autoinhibited Protein Database

Q9NX58

Gene name	LYAR (PNAS-5)
Protein name	Cell growth-regulating nucleolar protein
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55646
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

176-317 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

176-317 (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

4 structures for Q9NX58

Entry ID	Method	Resolution	Chain	Position	Source
6ZMI	EM	260 A	CE	1-379	PDB
6ZMO	EM	310 A	CE	1-379	PDB
6ZVH	EM	290 A	y	308-379	PDB
AF-Q9NX58-F1	Predicted				AlphaFoldDB

360 variants for Q9NX58

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA356129682 rs1329884636	2	V>A		No	ClinGen TOPMed gnomAD
rs911024237 CA91617445	2	V>L		No	ClinGen Ensembl
rs879286766 CA91617442	3	F>L		No	ClinGen TOPMed gnomAD
CA356129649 rs1393706862	5	T>I		No	ClinGen gnomAD
rs1320168968 CA356129647	6	C>R		No	ClinGen TOPMed
COSM116104 CA356129627 rs1560097360	7	N>S	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1264655530 CA356129607	9	C>G		No	ClinGen gnomAD
CA2831622 rs766636497	10	G>R		No	ClinGen ExAC gnomAD
CA356129568 rs1264648730	13	V>M		No	ClinGen TOPMed
rs376447776 CA91617417	17	Q>*		No	ClinGen ESP
rs199677703 CA91617411	19	E>D		No	ClinGen 1000Genomes
rs1215315195 CA356129498	19	E>G		No	ClinGen TOPMed
CA356129489 rs1236350556	20	K>R		No	ClinGen TOPMed
CA356129481 rs1438971763	21	H>N		No	ClinGen TOPMed
CA2831621 rs761005527	21	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA356129449 rs1421718783	24	V>F		No	ClinGen TOPMed
CA91617407 rs112315346	25	C>Y		No	ClinGen Ensembl
CA2831619 rs371725683	29	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA356129388 rs1577218557	30	C>R		No	ClinGen Ensembl
CA2831618 rs762006327	30	C>Y		No	ClinGen ExAC gnomAD
rs1394748315 CA356129364	32	S>C		No	ClinGen TOPMed
CA356129358 rs1341325881	33	C>G		No	ClinGen gnomAD
CA2831616 rs768719534	34	I>T		No	ClinGen ExAC TOPMed gnomAD
rs147754234 CA2831617	34	I>V		No	ClinGen ESP ExAC gnomAD
CA2831613 rs769456680	37	G>S		No	ClinGen ExAC gnomAD
rs1352599270 CA356129309	37	G>V		No	ClinGen gnomAD
TCGA novel	38	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745578059 CA2831612	39	D>G		No	ClinGen ExAC gnomAD
TCGA novel	39	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	40	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2831593 rs776433801	42	G>D		No	ClinGen ExAC gnomAD
TCGA novel	43	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2831591 rs532794150	43	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA91616471 rs532794150	43	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	44	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1466159671 CA356129040	45	Y>C		No	ClinGen TOPMed
rs777311118 CA2831590	46	K>E		No	ClinGen ExAC gnomAD
rs747652826 CA2831589	47	N>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	47	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	47	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1042549817 CA91616449	49	V>G		No	ClinGen TOPMed
CA2831586 rs151107558	49	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs151107558 CA2831585 COSM178915	49	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA356129011 rs1378911492	50	K>Q		No	ClinGen gnomAD
rs991560772 CA356128998	51	C>*		No	ClinGen gnomAD
rs767920952 CA2831584	51	C>G		No	ClinGen ExAC gnomAD
CA91616442 rs991560772	51	C>W		No	ClinGen gnomAD
rs1402421445 CA356128995	52	I>L		No	ClinGen gnomAD
rs1402421445 CA356128996	52	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2831582 rs751810914	55	D>G		No	ClinGen ExAC
CA2831583 rs757611452	55	D>Y		No	ClinGen ExAC gnomAD
CA356128967 rs1450922816	56	Q>E		No	ClinGen gnomAD
CA356128948 rs200310019	58	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2831581 rs200310019	58	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147108474 CA2831579	60	G>V		No	ClinGen ESP ExAC gnomAD
rs759378784 CA91616407	63	Y>C		No	ClinGen TOPMed gnomAD
rs759378784 CA91616418	63	Y>S		No	ClinGen TOPMed gnomAD
rs1202253382 CA356128909	64	E>D		No	ClinGen gnomAD
CA2831577 rs759509836	64	E>K		No	ClinGen ExAC gnomAD
rs1238253667 CA356128905	65	G>D		No	ClinGen TOPMed gnomAD
rs776343685 CA2831576	65	G>R		No	ClinGen ExAC gnomAD
CA356128884 rs1260207728	68	H>R		No	ClinGen gnomAD
CA356128873 rs1316531283	69	K>N		No	ClinGen TOPMed
CA2831574 rs772880835	70	G>D		No	ClinGen ExAC TOPMed gnomAD
rs772880835 CA2831573	70	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1252278347 CA356128865	71	D>A		No	ClinGen TOPMed
rs1244909884 CA356128868	71	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1340708933 CA356128860	72	I>F		No	ClinGen gnomAD
CA356128854 rs1329669246	72	I>M		No	ClinGen gnomAD
CA2831571 rs747625064	74	Q>H		No	ClinGen ExAC gnomAD
CA2831542 rs778912585	80	K>N		No	ClinGen ExAC gnomAD
CA356128777 rs1285255727	81	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA356128746 rs1577216031	85	I>M		No	ClinGen Ensembl
rs1220084939 CA356128748	85	I>T		No	ClinGen gnomAD
rs200105686 CA91615420	87	R>T		No	ClinGen 1000Genomes
CA356128727 rs1343163358	88	P>R		No	ClinGen gnomAD
CA356128722 rs1332141360	89	N>S		No	ClinGen gnomAD
CA2831540 rs148441811	89	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs755988324 CA2831538	90	V>I		No	ClinGen ExAC
CA2831533 rs369633251	93	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2831532 rs762552722	94	V>A		No	ClinGen ExAC gnomAD
CA356128692 rs1427343490	94	V>M		No	ClinGen gnomAD
CA356128685 rs1248330847	95	R>K		No	ClinGen gnomAD
rs913683267 CA91615398	96	E>A		No	ClinGen Ensembl
rs771575137 CA2831530	97	L>R		No	ClinGen ExAC gnomAD
CA2831529 rs530839178	98	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs74683874 CA2831527	99	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2831526 rs545818869	100	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2831525 rs545818869	100	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1341948642 CA356128653	100	Q>R		No	ClinGen TOPMed
rs923452403 CA91615382	101	I>L		No	ClinGen TOPMed
rs1347921179 CA356128640	102	S>N		No	ClinGen TOPMed gnomAD
CA356128630 rs1560095465	103	A>V		No	ClinGen Ensembl
rs778574400 CA91615375	105	D>G		No	ClinGen TOPMed gnomAD
rs778574400 CA91615378	105	D>V		No	ClinGen TOPMed gnomAD
CA2831523 rs749385125	106	N>S		No	ClinGen ExAC TOPMed gnomAD
rs377617456 CA2831522	107	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1277050168 CA356128597	109	R>G		No	ClinGen TOPMed gnomAD
TCGA novel	110	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA91615363 TCGA novel rs771173751	111	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2831521 rs756110875	113	K>Q		No	ClinGen ExAC gnomAD
CA2831501 rs376795847	116	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	117	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1442475555 CA356128505	119	K>N		No	ClinGen TOPMed gnomAD
CA91615286 rs981954740	120	N>K		No	ClinGen TOPMed gnomAD
rs751380144 CA2831500	121	S>N		No	ClinGen ExAC gnomAD
rs994009934 CA91615283	122	L>V		No	ClinGen gnomAD
rs777414358 CA2831499	124	V>L		No	ClinGen ExAC
CA2831498 rs139908100	125	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2831496 rs764938701	126	N>K		No	ClinGen ExAC gnomAD
rs1035275070 CA91615279	126	N>Y		No	ClinGen TOPMed gnomAD
TCGA novel	127	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	127	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA91615274 rs374404118	128	S>P		No	ClinGen TOPMed
CA356128440 rs1219430942	129	I>N		No	ClinGen gnomAD
rs759151025 CA2831495	130	L>P		No	ClinGen ExAC gnomAD
rs574658554 CA2831494	131	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356128429 rs1312431453	131	D>G		No	ClinGen TOPMed gnomAD
rs990714406 CA91615262	132	Q>H		No	ClinGen TOPMed
rs558976309 CA91615268	132	Q>R		No	ClinGen TOPMed gnomAD
rs768084683 CA91615253	133	V>A		No	ClinGen ExAC TOPMed gnomAD
rs768084683 CA2831493	133	V>G		No	ClinGen ExAC TOPMed gnomAD
CA91615259 rs952611677	133	V>M		No	ClinGen TOPMed
rs762214461 CA2831492	135	N>Y		No	ClinGen ExAC gnomAD
CA2831491 rs768870285	136	I>F		No	ClinGen ExAC gnomAD
CA2831490 rs768870285	136	I>V		No	ClinGen ExAC gnomAD
CA2831488 rs146037788	137	F>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356128371 rs1223270977	140	A>G		No	ClinGen TOPMed
CA2831487 rs769962396	141	S>F		No	ClinGen ExAC gnomAD
CA2831486 rs745949306	142	N>D		No	ClinGen ExAC gnomAD
CA2831484 rs770955483	143	S>R		No	ClinGen ExAC gnomAD
rs892156688 CA356127882	144	E>D		No	ClinGen TOPMed
CA356127873 rs1464849649	145	P>L		No	ClinGen Ensembl
CA2831463 rs747973189	145	P>S		No	ClinGen ExAC TOPMed gnomAD
rs747973189 CA2831462	145	P>T		No	ClinGen ExAC TOPMed gnomAD
rs201897727 CA2831461	146	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2831458 rs779664121	147	N>D		No	ClinGen ExAC
CA2831456 rs374749432	147	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2831454 rs758842585	147	N>K		No	ClinGen ExAC gnomAD
rs374749432 CA2831457	147	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2831453 rs188608480	148	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356127844 rs1577212980	148	K>R		No	ClinGen Ensembl
CA2831452 rs765577768	150	Q>*		No	ClinGen ExAC gnomAD
rs2272739 CA2831451	151	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2831450 rs2272739 VAR_023080	151	D>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	152	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA91612720 rs77164840	152	Q>H		No	ClinGen Ensembl
CA356127790 rs1311541108	152	Q>P		No	ClinGen TOPMed gnomAD
CA356127791 rs1311541108	152	Q>R		No	ClinGen TOPMed gnomAD
CA91612716 rs1021621832	153	R>Q		No	ClinGen TOPMed gnomAD
rs139524971 CA2831449	153	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2831448 rs760677714	154	P>A		No	ClinGen ExAC
CA356127722 rs1577212918	158	V>A		No	ClinGen Ensembl
rs1325050310 CA356127729	158	V>L		No	ClinGen TOPMed
rs988842569 CA91612699	159	A>V		No	ClinGen Ensembl
rs748095414 CA2831445	162	H>N		No	ClinGen ExAC gnomAD
rs748095414 CA2831446	162	H>Y		No	ClinGen ExAC gnomAD
rs1334140199 CA356127660	163	A>V		No	ClinGen gnomAD
rs1350238195 CA356127616	166	S>C		No	ClinGen TOPMed
CA2831444 rs774328182	167	T>N		No	ClinGen ExAC gnomAD
CA2831443 rs150811602	168	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2831442 rs749061342	168	K>N		No	ClinGen ExAC gnomAD
rs1177497790 CA356127596	168	K>R		No	ClinGen gnomAD
CA91612668 rs956087186	169	V>F		No	ClinGen gnomAD
CA356127591 rs956087186	169	V>I		No	ClinGen gnomAD
CA356127589 rs956087186	169	V>L		No	ClinGen gnomAD
rs779604424 CA2831441	170	P>A		No	ClinGen ExAC gnomAD
CA2831440 rs755722737	171	A>T		No	ClinGen ExAC gnomAD
rs560655370 CA2831439	173	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1198945640 CA356127547	173	K>R		No	ClinGen gnomAD
rs1296308350 CA356127524	175	K>E		No	ClinGen TOPMed
rs370221733 CA2831436	176	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765635036 CA2831435	177	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2831433 rs73087759	178	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766526024 CA2831432	180	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA356127439 rs1453626801	183	E>*		No	ClinGen TOPMed
rs376872817 CA2831431 CA356127432	184	V>L		No	ClinGen ESP ExAC gnomAD
rs1203042646 CA356127417	186	K>T		No	ClinGen TOPMed
rs1006134560 CA91612575	188	K>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA356127395 rs773494053	189	R>K		No	ClinGen ExAC gnomAD
rs773494053 CA2831430	189	R>T		No	ClinGen ExAC gnomAD
rs374635495 CA2831428	191	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1158429470 CA356127377	192	K>E		No	ClinGen TOPMed gnomAD
rs778654068 CA2831427	195	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs887725443 CA91612560	195	R>W		No	ClinGen TOPMed
rs768597644 CA2831426	196	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA356127350 rs768597644	196	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs993101397 CA91612546	196	Q>R		No	ClinGen TOPMed gnomAD
CA91612523 rs201643778	199	R>K		No	ClinGen 1000Genomes
rs769387219 CA2831422	200	K>E		No	ClinGen ExAC
rs1217240727 CA356127319	200	K>I		No	ClinGen gnomAD
rs1353914928 CA356127315	201	R>G		No	ClinGen TOPMed
TCGA novel	202	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356127299 rs1263433529	203	K>E		No	ClinGen gnomAD
CA2831420 COSM385690 rs143281420	203	K>N	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1314271488 CA356127281	205	E>G		No	ClinGen gnomAD
rs1340658162 CA356127284	205	E>Q		No	ClinGen gnomAD
rs1011255768 CA91612492	206	L>R		No	ClinGen TOPMed
CA356127273 rs1339093540	207	K>Q		No	ClinGen TOPMed gnomAD
rs1298185878 CA356127269	207	K>R		No	ClinGen gnomAD
rs1387651485 CA356127258	209	E>K		No	ClinGen gnomAD
CA2831416 rs746486185	211	H>N		No	ClinGen ExAC
CA356127239 rs1457615010	211	H>R		No	ClinGen TOPMed gnomAD
rs149621817 CA2831415	212	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2831414 rs755458180	214	N>D		No	ClinGen ExAC gnomAD
rs1194362600 CA356127207	216	R>G		No	ClinGen gnomAD
rs754215862 CA2831413	216	R>S		No	ClinGen ExAC
rs1489212084 CA356127189	218	Q>P		No	ClinGen gnomAD
CA356127170 rs1577212694	221	K>E		No	ClinGen Ensembl
rs1208963746 CA356127163	222	K>Q		No	ClinGen gnomAD
CA2831411 rs138454561	223	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1055532 CA2831410 rs201663400	223	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1216403684 CA356127134	226	G>R		No	ClinGen gnomAD
CA2831409 rs767799618	227	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1316814705 CA356127124	227	Q>H		No	ClinGen gnomAD
rs1485345351 CA356127125	227	Q>R		No	ClinGen TOPMed
CA2831408 rs562601963	229	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs147117819 CA91612389	232	E>*		No	ClinGen ESP TOPMed gnomAD
CA91612393 rs147117819	232	E>K		No	ClinGen ESP TOPMed gnomAD
rs1474535328 CA356127084 COSM178913	233	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA91612385 rs752849898	234	G>D		No	ClinGen Ensembl
CA2831405 rs762933328	237	E>G		No	ClinGen ExAC TOPMed gnomAD
rs200321202 CA2831406	237	E>K		No	ClinGen ExAC TOPMed gnomAD
CA356127058 rs1464242867	238	V>I		No	ClinGen gnomAD
rs558808091 CA2831403	239	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2831404 rs558808091	239	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356127041 rs1170352578	240	E>D		No	ClinGen TOPMed
CA91612345 rs947648563	242	N>I		No	ClinGen TOPMed gnomAD
CA91612350 rs947648563	242	N>S		No	ClinGen TOPMed gnomAD
CA2831399 rs41264703	243	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776284261 CA2831401	243	G>S		No	ClinGen ExAC gnomAD
CA2831400 rs41264703	243	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1452032392 CA356127021	244	S>C		No	ClinGen gnomAD
CA356127018 rs777327034	245	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2831398 rs777327034	245	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1196418532 CA356127017	245	A>V		No	ClinGen gnomAD
CA2831397 rs769113321	246	G>E		No	ClinGen ExAC gnomAD
CA356127014 rs1457012500	246	G>R		No	ClinGen gnomAD
rs989083108 CA91612321	247	K>*		No	ClinGen TOPMed
rs989083108 CA356127008	247	K>E		No	ClinGen TOPMed
rs749773054 CA2831396	249	S>R		No	ClinGen ExAC gnomAD
CA91612313 rs955997586	250	K>E		No	ClinGen Ensembl
rs757679251 CA91612305	250	K>R		No	ClinGen Ensembl
CA2831395 rs780334651	253	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs756569454 CA2831393	255	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750777786 CA2831392	255	R>H		No	ClinGen ExAC TOPMed gnomAD
rs750777786 CA356126948	255	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1445566337 CA356126945	256	K>E		No	ClinGen TOPMed
rs1332138896 CA356126935	257	D>G		No	ClinGen gnomAD
rs1247201004 CA356126928	258	S>N		No	ClinGen TOPMed
rs757496286 CA356126922	259	A>P		No	ClinGen ExAC TOPMed gnomAD
COSM1429806 CA2831390 rs757496286	259	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA91612283 rs866738139	260	S>R		No	ClinGen Ensembl
rs1393142266 CA356126903	262	E>Q		No	ClinGen TOPMed
CA2831389 rs751745508	264	A>T		No	ClinGen ExAC gnomAD
rs185416286 CA2831388	265	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_023081 CA91612273 rs7376390	265	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA356126879 rs7376390	265	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2831386 rs752653540	266	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2831384 rs759335108	267	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2831381 rs180853467	268	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2831382 rs180853467	268	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772640009 CA2831380	269	G>R		No	ClinGen ExAC gnomAD
rs765156084 CA2831379	270	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1026160003 CA91612244	271	R>W		No	ClinGen Ensembl
CA91612242 rs993382240	272	K>R		No	ClinGen Ensembl
CA2831377 rs776097474	273	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2831378 rs201326764	273	R>W		No	ClinGen ExAC TOPMed gnomAD
rs770357183 CA2831376	275	H>Y		No	ClinGen ExAC gnomAD
rs140078008 CA2831375	276	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	277	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	277	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	277	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767211404 CA2831342	278	V>A		No	ClinGen ExAC gnomAD
rs757619317 CA2831373	278	V>F		No	ClinGen ExAC gnomAD
CA356126781 rs1303836143	280	T>I		No	ClinGen TOPMed gnomAD
CA2831340 rs372542576	282	S>C		No	ClinGen ESP ExAC TOPMed
rs761357609 CA2831341	282	S>P		No	ClinGen ExAC gnomAD
TCGA novel	282	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA91611254 rs865816073	283	K>M		No	ClinGen gnomAD
rs865816073 CA356126764	283	K>T		No	ClinGen gnomAD
CA2831338 rs760166133	284	K>M		No	ClinGen ExAC gnomAD
TCGA novel	285	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	286	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356126723 rs1399359350	288	K>M		No	ClinGen gnomAD
CA356126718 rs1577211840	289	L>F		No	ClinGen Ensembl
CA356126709 rs1290425538	290	P>L		No	ClinGen gnomAD
CA356126693 rs1420073831	292	H>Q		No	ClinGen gnomAD
rs775326197 CA91611242	294	E>D		No	ClinGen Ensembl
CA356126686 rs1433944723	294	E>K		No	ClinGen TOPMed gnomAD
rs1433944723 CA356126685	294	E>Q		No	ClinGen TOPMed gnomAD
CA2831334 rs773439266	296	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1429135026 CA356126668	297	E>Q		No	ClinGen TOPMed
rs919553839 CA91611234	298	P>S		No	ClinGen TOPMed
CA2831332 rs748291531	299	E>G		No	ClinGen ExAC gnomAD
rs976494650 CA91611233	300	D>H		No	ClinGen gnomAD
CA356126648 rs976494650	300	D>N		No	ClinGen gnomAD
rs79312020 CA2831330	301	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356126634 rs1487745208	302	E>K		No	ClinGen gnomAD
rs749326447 CA2831329	303	A>P		No	ClinGen ExAC gnomAD
CA2831327 rs755948468	304	P>H		No	ClinGen ExAC TOPMed gnomAD
rs755948468 CA91611196	304	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1310324049 CA356126619	304	P>S		No	ClinGen TOPMed
rs750289476 CA2831326	307	G>R		No	ClinGen ExAC TOPMed gnomAD
CA356126603 rs750289476	307	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1378840663 CA356126263	310	N>K		No	ClinGen gnomAD
rs768029460 CA2831298	310	N>S		No	ClinGen ExAC TOPMed gnomAD
rs768029460 CA356126266	310	N>T		No	ClinGen ExAC TOPMed gnomAD
CA2831297 rs762170783	311	W>*		No	ClinGen ExAC TOPMed gnomAD
CA2831295 rs374449812	313	G>A		No	ClinGen ESP ExAC gnomAD
rs774643201 CA2831296	313	G>R		No	ClinGen ExAC gnomAD
CA91606740 rs1031890733	314	T>S		No	ClinGen TOPMed gnomAD
CA356126150 rs1577208520	317	A>E		No	ClinGen Ensembl
rs1482889640 CA356126179	317	A>T		No	ClinGen gnomAD
rs999517242 CA91606735	318	I>T		No	ClinGen Ensembl
CA2831294 rs142101131	319	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs775585949 CA2831293	320	K>E		No	ClinGen ExAC gnomAD
CA2831292 rs769739867	322	A>V		No	ClinGen ExAC
CA91606722 rs879091810	323	P>S		No	ClinGen Ensembl
rs538935431 CA2831290	324	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA91606707 rs1007578622	325	N>S		No	ClinGen Ensembl
rs1480423455 CA356126011	329	I>V		No	ClinGen gnomAD
TCGA novel	332	L>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356125986 rs1309967872	332	L>I		No	ClinGen gnomAD
CA356125985 rs1394875975	332	L>Q		No	ClinGen gnomAD
rs771944607 CA91606698	333	R>K		No	ClinGen gnomAD
CA91606689 rs889173088	334	K>R		No	ClinGen Ensembl
CA91606673 rs193125849	335	K>E		No	ClinGen 1000Genomes
rs1417136830 CA356125963	335	K>N		No	ClinGen TOPMed gnomAD
rs1328604269 CA356125934	338	A>V		No	ClinGen gnomAD
CA2831262 rs779614116	339	Q>H		No	ClinGen ExAC
rs1299597889 CA356125914 COSM733403	341	Y>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA356125905 rs1395424185	342	T>I		No	ClinGen gnomAD
rs1440476710 CA356125910	342	T>P		No	ClinGen gnomAD
CA356125906 rs1395424185	342	T>R		No	ClinGen gnomAD
TCGA novel	342	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356125903 rs1464193908	343	V>M		No	ClinGen gnomAD
rs778202975 CA2831259	345	D>V		No	ClinGen ExAC gnomAD
rs1375751469 CA356125863	348	H>Q		No	ClinGen gnomAD
CA356125857 rs1192721189	349	R>K		No	ClinGen gnomAD
CA356125851 rs1454456214	350	S>Y		No	ClinGen gnomAD
CA2831257 rs753033913	351	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA356125823 rs1456969125	354	L>F		No	ClinGen TOPMed gnomAD
CA356125825 rs1456969125	354	L>I		No	ClinGen TOPMed gnomAD
rs201378892 CA2831256	355	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA2831254 rs550449087	357	I>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2831253 rs550449087	357	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA2831255 rs759789353	357	I>V		No	ClinGen ExAC gnomAD
rs35659581 CA2831251	362	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356125770 rs1364318872	362	I>T		No	ClinGen gnomAD
TCGA novel	364	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747406735 CA91606160	366	P>A		No	ClinGen Ensembl
rs761527601 CA2831249	366	P>R		No	ClinGen ExAC gnomAD
rs144150662 CA2831248	367	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1329577450 CA356125729	368	F>C		No	ClinGen TOPMed gnomAD
CA356125688 rs1172934678	374	K>E		No	ClinGen gnomAD
CA91606154 rs1003759136	375	V>I		No	ClinGen TOPMed
rs1383350299 CA356125657	378	V>A		No	ClinGen TOPMed
CA2831244 rs769316442	380	K>R		No	ClinGen ExAC gnomAD
CA2831243 rs745342498	380	K>W		No	ClinGen ExAC gnomAD

No associated diseases with Q9NX58

2 regional properties for Q9NX58

Type	Name	Position	InterPro Accession
domain	Zinc finger, C2H2, LYAR-type	31 - 58	IPR014898
domain	Acetyl-coA carboxylase zinc finger domain	3 - 28	IPR041010

Functions

		Description
EC Number
Subcellular Localization	Nucleus Nucleus, nucleolus Cytoplasm Cell projection, cilium, photoreceptor outer segment	Component of pre-ribosomal particles, including pre-40S, pre-60S and pre-90S (PubMed:24495227) Associated with cytoplasmic ribosomes, but not polysomes, as a component of the 60S subunit (PubMed:24990247) In the retina, predominantly expressed in photoreceptor outer segments (By similarity) In the nucleolus, colocalizes with nucleolin/NCL, therefore may reside in the dense fibrillar component (DFC) (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
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.
photoreceptor outer segment	The outer segment of a vertebrate photoreceptor that contains a stack of membrane discs embedded with photoreceptor proteins.

6 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).
DNA-binding transcription factor binding	Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription.
identical protein binding	Binding to an identical protein or proteins.
metal ion binding	Binding to a metal ion.
RNA binding	Binding to an RNA molecule or a portion thereof.
transcription regulator inhibitor activity	A molecular function regulator that inhibits the activity of a transcription regulator via direct binding and/or post-translational modification.

7 GO annotations of biological process

Name	Definition
erythrocyte development	The process whose specific outcome is the progression of an erythrocyte over time, from its formation to the mature structure.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
negative regulation of innate immune response	Any process that stops, prevents, or reduces the frequency, rate or extent of the innate immune response.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
positive regulation of phagocytosis	Any process that activates or increases the frequency, rate or extent of phagocytosis.
positive regulation of transcription by RNA polymerase I	Any process that activates or increases the frequency, rate or extent of transcription mediated by RNA polymerase I.
rRNA processing	Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6AYK5	Lyar	Cell growth-regulating nucleolar protein	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MVFFTCNACG	ESVKKIQVEK	HVSVCRNCEC	LSCIDCGKDF	WGDDYKNHVK	CISEDQKYGG
70	80	90	100	110	120
KGYEGKTHKG	DIKQQAWIQK	ISELIKRPNV	SPKVRELLEQ	ISAFDNVPRK	KAKFQNWMKN
130	140	150	160	170	180
SLKVHNESIL	DQVWNIFSEA	SNSEPVNKEQ	DQRPLHPVAN	PHAEISTKVP	ASKVKDAVEQ
190	200	210	220	230	240
QGEVKKNKRE	RKEERQKKRK	REKKELKLEN	HQENSRNQKP	KKRKKGQEAD	LEAGGEEVPE
250	260	270	280	290	300
ANGSAGKRSK	KKKQRKDSAS	EEEARVGAGK	RKRRHSEVET	DSKKKKMKLP	EHPEGGEPED
310	320	330	340	350	360
DEAPAKGKFN	WKGTIKAILK	QAPDNEITIK	KLRKKVLAQY	YTVTDEHHRS	EEELLVIFNK
370
KISKNPTFKL	LKDKVKLVK