AiPD: Autoinhibited Protein Database

Q8NDD1

Gene name	C1orf131 (cPERP-A)
Protein name	Uncharacterized protein C1orf131
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:128061
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-294 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-294 (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

3 structures for Q8NDD1

Entry ID	Method	Resolution	Chain	Position	Source
7MQ8	EM	360 A	NE	1-293	PDB
7MQ9	EM	387 A	NE	1-293	PDB
AF-Q8NDD1-F1	Predicted				AlphaFoldDB

264 variants for Q8NDD1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs766060174 CA1451640	2	R>G		No	ClinGen ExAC gnomAD
rs1558320325 CA345228384	2	R>K		No	ClinGen Ensembl
rs949990554 CA38953017	3	V>A		No	ClinGen TOPMed
rs544457818 CA38953016	4	D>E		No	ClinGen TOPMed gnomAD
rs762365587 CA1451639	4	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs897206104 CA38953005	5	S>C		No	ClinGen TOPMed
CA1451637 rs531305779	6	S>L	Variant assessed as Somatic; 0.0002789 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1413127293 CA345228314	7	A>G		No	ClinGen TOPMed
rs552479895 CA1451636 COSM3804315	8	D>N	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA1451633 rs776170264	9	P>R		No	ClinGen ExAC TOPMed
rs747558165 CA1451634	9	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1157033862 CA345228272	10	T>A		No	ClinGen TOPMed gnomAD
rs1453094726 CA345228247	11	M>I		No	ClinGen gnomAD
CA345228253 rs1193622317	11	M>T		No	ClinGen gnomAD
rs201276335 CA1451630	11	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1451629 rs757563319	12	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777874673 CA1451627	13	Q>*		No	ClinGen ExAC gnomAD
rs143615379 CA1451626	15	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA38952868 rs936085903	17	P>L		No	ClinGen gnomAD
CA1451625 rs752586434	17	P>S		No	ClinGen ExAC TOPMed gnomAD
CA345228161 rs1232038303	19	S>A		No	ClinGen gnomAD
rs1232038303 CA345228162	19	S>P		No	ClinGen gnomAD
rs751437541 CA1451622	20	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA38952835 rs985639179	21	T>A		No	ClinGen Ensembl
rs1301752213 CA345228149	21	T>M		No	ClinGen TOPMed gnomAD
rs1381387846 CA345228145	22	P>S		No	ClinGen gnomAD
CA345228139 rs1361537834	23	P>S		No	ClinGen gnomAD
COSM905458 rs762716272 CA1451620	24	S>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1402066710 CA345228133	24	S>R		No	ClinGen gnomAD
rs1260062016 CA345228123 COSM373522	25	S>F	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs749920950 CA1451619	26	P>T		No	ClinGen ExAC gnomAD
CA1451618 rs764797964	27	T>R		No	ClinGen ExAC gnomAD
rs2274067 CA1451617	28	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2274067 CA345228112	28	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1367995523 CA345228109	28	L>R		No	ClinGen TOPMed
CA1451616 rs2274067 VAR_031906	28	L>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA345228107 rs1471820276	29	L>V		No	ClinGen TOPMed
CA345228092 rs1428360256	31	A>T		No	ClinGen gnomAD
rs772633230 CA1451615	31	A>V		No	ClinGen ExAC gnomAD
CA1451614 rs144789686	32	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1256236190 CA345228085	33	L>I		No	ClinGen gnomAD
CA1451612 rs771034415	34	Q>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	35	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345228067 rs1454190825	35	N>S		No	ClinGen gnomAD
CA1451609 rs769811764	37	Y>*		No	ClinGen ExAC gnomAD
rs988662586 CA38951460	40	G>E		No	ClinGen TOPMed
rs1407654202 CA345227634	44	G>D		No	ClinGen TOPMed
rs1398681517 CA345227638	44	G>S		No	ClinGen gnomAD
rs966231450 CA38951437	46	T>I		No	ClinGen TOPMed
rs1412809024 CA345227606	48	Q>L		No	ClinGen TOPMed
CA1451586 rs746923115	49	K>N		No	ClinGen ExAC gnomAD
rs754299558	50	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA38951373 rs1019571686	50	K>T		No	ClinGen TOPMed
TCGA novel	51	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779876992 CA1451584	52	I>M		No	ClinGen ExAC TOPMed gnomAD
rs758209866 CA1451583	54	K>T		No	ClinGen ExAC TOPMed gnomAD
CA38951362 rs949009626	57	N>D		No	ClinGen Ensembl
CA1451579 rs778699326	59	K>E		No	ClinGen ExAC gnomAD
COSM1501799 rs1179175515 CA345227505	62	V>A	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA345227509 rs1239858375	62	V>M		No	ClinGen gnomAD
CA345227501 rs1297428193	63	M>L		No	ClinGen TOPMed
CA1451578 rs757025010	64	A>P		No	ClinGen ExAC gnomAD
rs1271011783 CA345227484	65	S>L		No	ClinGen TOPMed gnomAD
CA1451577 rs137948315	66	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	67	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345227477 rs1238349805	67	A>T		No	ClinGen gnomAD
TCGA novel	69	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1571921928 CA345227459	70	A>T		No	ClinGen Ensembl
CA38951328 rs538436308	74	P>A		No	ClinGen TOPMed gnomAD
rs562745430 CA38951313	74	P>L		No	ClinGen Ensembl
CA345227432 rs538436308	74	P>S		No	ClinGen TOPMed gnomAD
rs141352951 CA345227415	77	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345227416 rs1370786802	77	G>C		No	ClinGen TOPMed gnomAD
rs141352951 CA1451575	77	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345227418 rs1370786802	77	G>S		No	ClinGen TOPMed gnomAD
CA1451574 rs752050398	78	S>C		No	ClinGen ExAC gnomAD
CA1451571 rs773624508	80	I>T		No	ClinGen ExAC gnomAD
CA1451570 rs765423923	83	Q>*		No	ClinGen ExAC gnomAD
rs1381612193 CA345227380	83	Q>R		No	ClinGen gnomAD
TCGA novel	84	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1451569 rs762063969	84	R>T		No	ClinGen ExAC gnomAD
CA1451566 rs111900716	85	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768730609 CA1451567	85	K>R		No	ClinGen ExAC
COSM169289 rs772202745 CA1451564	88	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs558606404 CA1451562	89	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1451559 rs777307649	90	F>L		No	ClinGen ExAC gnomAD
CA1451560 rs145075008	90	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs550372226 CA1451558 CA345227326	91	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345227325 rs1427311870	92	K>Q		No	ClinGen TOPMed
rs752219753 CA1451557	92	K>R		No	ClinGen ExAC TOPMed gnomAD
rs766858692 CA345227311	93	E>D		No	ClinGen ExAC TOPMed gnomAD
rs758953306 CA1451555	94	L>F		No	ClinGen ExAC gnomAD
CA1451553 rs750757425	95	R>K		No	ClinGen ExAC
rs1361940909 CA345227289	97	E>*		No	ClinGen gnomAD
CA345227291 rs1361940909	97	E>K		No	ClinGen gnomAD
CA1451551 rs762105770	98	R>P		No	ClinGen ExAC gnomAD
CA345227282 rs762105770	98	R>Q		No	ClinGen ExAC gnomAD
CA1451552 rs765548902	98	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1344530531 CA345227279	99	H>D		No	ClinGen TOPMed
rs764226522 CA1451549	99	H>L		No	ClinGen ExAC TOPMed gnomAD
rs760804483 CA1451548	100	C>Y		No	ClinGen ExAC gnomAD
rs772110574 CA1451546	101	A>D		No	ClinGen ExAC gnomAD
CA345227264 rs1487413458	101	A>S		No	ClinGen gnomAD
TCGA novel	101	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369835856 CA1451545	102	P>L		No	ClinGen 1000Genomes ESP ExAC
CA345227259 rs1312276510	102	P>S		No	ClinGen gnomAD
CA345227251 rs1217372161	103	S>F		No	ClinGen gnomAD
CA345227245 rs1485639823	104	G>E		No	ClinGen gnomAD
rs146547605 CA1451544	106	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1221421521 CA345227234	106	P>L		No	ClinGen gnomAD
TCGA novel	107	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	110	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	110	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777481309 CA1451541	114	A>T		No	ClinGen ExAC gnomAD
TCGA novel	116	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780722096 CA1451538	118	P>S		No	ClinGen ExAC gnomAD
CA1451537 rs754515572	119	S>A		No	ClinGen ExAC
rs750882483 CA1451536	119	S>C		No	ClinGen ExAC TOPMed gnomAD
CA1451535 rs779405167	120	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1451534 rs377087156	121	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs754221815 CA1451533	122	K>E		No	ClinGen ExAC gnomAD
rs764363254 CA1451532	122	K>R		No	ClinGen ExAC gnomAD
CA38950955 rs925841845	124	N>S		No	ClinGen TOPMed
CA1451530 rs752789542	125	R>K		No	ClinGen ExAC gnomAD
CA1451528 rs759703992	128	V>A		No	ClinGen ExAC gnomAD
rs774366966 CA1451527	131	V>I		No	ClinGen ExAC gnomAD
CA1451526 rs770844461	132	E>D		No	ClinGen ExAC TOPMed gnomAD
CA1451525 rs762799828	134	H>R		No	ClinGen ExAC gnomAD
CA345226839 rs1197076096	135	S>I		No	ClinGen TOPMed gnomAD
rs913928029 CA38950905	135	S>R		No	ClinGen TOPMed
rs370319421 CA1451524	136	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs769458098 CA1451523	136	N>K		No	ClinGen ExAC gnomAD
rs1232290396 CA345226814	137	K>E		No	ClinGen gnomAD
CA1451522 rs747760940	137	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	139	R>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147349100 COSM110274 CA1451520	139	R>K	skin [Cosmic]	No	ClinGen cosmic curated ExAC
rs1431526770 CA345226773	139	R>S		No	ClinGen TOPMed
CA1451518 rs757762761	142	T>A		No	ClinGen ExAC TOPMed gnomAD
COSM1198395 rs564907684 CA1451516	142	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs757762761 CA1451517	142	T>S		No	ClinGen ExAC TOPMed gnomAD
CA345226728 rs756529098	145	H>L		No	ClinGen ExAC gnomAD
CA1451514 rs756529098	145	H>R		No	ClinGen ExAC gnomAD
TCGA novel	145	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345226714 rs1331309176	147	K>T		No	ClinGen TOPMed
CA1451513 rs752916156	148	N>T		No	ClinGen ExAC TOPMed gnomAD
rs767859353 CA1451512	149	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1363704729 CA345226674	150	K>N		No	ClinGen TOPMed
TCGA novel	150	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1451483 rs371505411	152	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1451482 rs533099122	152	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA345226133 rs1298176836	155	S>C		No	ClinGen TOPMed gnomAD
CA1451481 rs745394813	160	D>E		No	ClinGen ExAC gnomAD
CA345226091 rs1260439271	161	V>M		No	ClinGen gnomAD
CA1451480 rs115635619	163	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345226068 rs1395668886	164	Q>R		No	ClinGen TOPMed
CA1451479 rs770482004	165	E>*		No	ClinGen ExAC gnomAD
CA1451478 rs748502526	169	E>G		No	ClinGen ExAC gnomAD
CA38944533 rs910714016	169	E>K		No	ClinGen TOPMed gnomAD
rs781719170 CA1451477	170	K>E		No	ClinGen ExAC gnomAD
CA345226011 rs1172861314	171	A>P		No	ClinGen TOPMed
CA1451452 rs147296791	172	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs542541652 CA1451451	172	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779000270 CA1451450	173	L>*		No	ClinGen ExAC gnomAD
rs757358771 CA1451449	174	E>Q		No	ClinGen ExAC gnomAD
CA1451447 rs34759016	177	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1451448 rs528039065	177	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755838517 CA1451446	178	F>L		No	ClinGen ExAC TOPMed gnomAD
rs892025292 CA38942819	181	T>A		No	ClinGen gnomAD
rs373942539 CA1451445	181	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1451442 rs751202650	182	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1177931470 CA345225940	183	Y>C		No	ClinGen gnomAD
CA1451441 rs765943386	183	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs762570323 CA1451440	184	G>E		No	ClinGen ExAC gnomAD
CA345225920 rs1256952282	186	G>E		No	ClinGen TOPMed
CA345225901 rs1259729382	189	R>G		No	ClinGen gnomAD
CA345225898 rs1200788834	189	R>T		No	ClinGen gnomAD
CA1451439 rs777214409	190	I>N		No	ClinGen ExAC gnomAD
TCGA novel	191	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1451438 rs200812484	193	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA345225875 rs200812484	193	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA1451437 rs200812484	193	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs775969071 CA1451436	195	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772150625 CA1451435	195	R>H		No	ClinGen ExAC TOPMed gnomAD
rs746058153 CA1451434	196	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1446666607 CA345225853	196	A>V		No	ClinGen TOPMed gnomAD
CA38942758 rs1020729567	197	I>V		No	ClinGen TOPMed
rs779129150 CA1451433 CA345225839	198	M>I		No	ClinGen ExAC gnomAD
CA345225835 rs1333742753	199	L>P		No	ClinGen gnomAD
CA1451431 rs749372964	201	A>T		No	ClinGen ExAC gnomAD
CA38942750 rs901714938	201	A>V		No	ClinGen TOPMed
CA345225790 rs1469811351	205	K>E		No	ClinGen TOPMed
CA1451415 rs759831267	205	K>I		No	ClinGen ExAC gnomAD
rs759140433 CA1451414	206	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	206	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	207	S>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345225776 rs1382020253	207	S>G		No	ClinGen gnomAD
CA345225770 rs1159067197	207	S>R		No	ClinGen TOPMed gnomAD
rs1558315043 CA529712151	208	Y>*		No	ClinGen Ensembl
CA38942621 rs561506073	208	Y>F		No	ClinGen Ensembl
CA1451412 rs749350221	212	K>R		No	ClinGen ExAC TOPMed gnomAD
rs769796847 CA345225733	213	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1451410 rs769796847	213	V>L		No	ClinGen ExAC TOPMed gnomAD
CA345225719 rs1490890004	215	Q>*		No	ClinGen gnomAD
CA1451409 rs748069912	215	Q>R		No	ClinGen ExAC gnomAD
CA1451407 rs754739751	216	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1439234634 CA345225698	218	I>V		No	ClinGen gnomAD
rs1558315004 CA345225674	221	K>Q		No	ClinGen Ensembl
TCGA novel	222	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746871346 CA1451406	223	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1571914819 CA345225653	224	A>S		No	ClinGen Ensembl
CA38942556 rs952182622	228	E>Q		No	ClinGen Ensembl
CA1451402 rs145399124	230	R>K		No	ClinGen ESP ExAC TOPMed
CA38942546 rs201254992	231	L>R		No	ClinGen Ensembl
CA345225587 rs753354101	232	A>S		No	ClinGen ExAC TOPMed gnomAD
rs753354101 CA1451382	232	A>T		No	ClinGen ExAC TOPMed gnomAD
CA345225574 rs903175951	234	E>*		No	ClinGen TOPMed gnomAD
CA1451380 rs755521484	234	E>A		No	ClinGen ExAC gnomAD
CA38941783 rs903175951	234	E>K		No	ClinGen TOPMed gnomAD
CA1451379 rs752093961	235	T>A		No	ClinGen ExAC gnomAD
rs1462082690 CA345225559	236	D>V		No	ClinGen gnomAD
CA1451378 rs766681039	237	I>T		No	ClinGen ExAC gnomAD
rs1043187477 CA38941765	237	I>V		No	ClinGen Ensembl
rs763322144 CA1451377	238	F>V		No	ClinGen ExAC gnomAD
rs947413917 CA38941751	239	K>N		No	ClinGen TOPMed gnomAD
rs765487858 CA38941758	239	K>T		No	ClinGen Ensembl
rs1366591492 CA345225537	240	K>E		No	ClinGen TOPMed
CA1451375 rs750595253	243	R>W		No	ClinGen ExAC TOPMed gnomAD
CA345225507 rs1353640344	244	K>E		No	ClinGen gnomAD
CA345225493 rs1571914076	246	Q>E		No	ClinGen Ensembl
CA1451373 rs377041638	247	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA38941712 rs761238949	248	D>G		No	ClinGen TOPMed
rs1415016823 CA345225472	249	R>G		No	ClinGen gnomAD
CA345225469 rs1255592764	249	R>T		No	ClinGen TOPMed
CA1451357 rs758761173	250	K>T		No	ClinGen ExAC gnomAD
rs377224537 CA1451356	253	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA38940915 rs948268289	253	K>R		No	ClinGen Ensembl
CA345225422 rs1284212840	254	K>Q		No	ClinGen TOPMed gnomAD
CA1451355 rs765478155	255	S>A		No	ClinGen ExAC TOPMed gnomAD
rs372554564 CA1451354	255	S>F		No	ClinGen ESP ExAC gnomAD
rs369512781 CA1451352	256	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1451351 rs200489074	257	P>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	258	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375448320 CA1451350	258	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs922044072 CA345225380	260	L>F		No	ClinGen TOPMed gnomAD
CA38940877 rs1056029394	261	S>*		No	ClinGen Ensembl
CA1451347 rs562480633	264	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1451348 rs759360716	264	R>W		No	ClinGen ExAC TOPMed gnomAD
rs867694267 CA38940860	265	I>V		No	ClinGen TOPMed
rs770792057 CA1451346	267	Q>R		No	ClinGen ExAC gnomAD
rs1042124795 CA38940855	268	V>I		No	ClinGen TOPMed gnomAD
rs748845524 CA1451345	271	F>L		No	ClinGen ExAC gnomAD
CA1451344 rs777495558	272	K>R		No	ClinGen ExAC TOPMed gnomAD
CA38940845 rs145700786	275	T>A		No	ClinGen ESP TOPMed gnomAD
CA1451343 rs769228558	280	P>S		No	ClinGen ExAC TOPMed gnomAD
rs747726556 CA1451342	282	D>G		No	ClinGen ExAC gnomAD
rs1285276517 CA345225239	283	I>T		No	ClinGen gnomAD
rs1405697787 CA345225229	284	K>N		No	ClinGen TOPMed gnomAD
rs780530103 CA1451341	286	I>T		No	ClinGen ExAC TOPMed gnomAD
CA345225214 rs1325587116	287	N>H		No	ClinGen gnomAD
CA345225208 rs1433881679	287	N>K		No	ClinGen TOPMed
CA345225201 rs1304639476	288	S>F		No	ClinGen TOPMed
rs199681084 CA1451339	291	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1316147162 CA345225187	291	V>M		No	ClinGen gnomAD
CA345225162 rs1558314138	294	K>W		No	ClinGen Ensembl

No associated diseases with Q8NDD1

3 regional properties for Q8NDD1

Type	Name	Position	InterPro Accession
domain	AMP-dependent synthetase/ligase domain	90 - 497	IPR000873
conserved_site	AMP-binding, conserved site	229 - 240	IPR020845
domain	AMP-binding enzyme, C-terminal domain	506 - 581	IPR025110

Functions

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

1 GO annotations of cellular component

Name	Definition
chromosome	A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.

1 GO annotations of molecular function

Name	Definition
RNA binding	Binding to an RNA molecule or a portion thereof.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8CIL4		Uncharacterized protein C1orf131 homolog	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MRVDSSADPT	MSQEQGPGSS	TPPSSPTLLD	ALLQNLYDFG	GTEGETEQKK	IIKKRENKKR
70	80	90	100	110	120
DVMASAALAA	EPSPLPGSLI	RGQRKSASSF	FKELREERHC	APSGTPTGPE	ILAAAVPPSS
130	140	150	160	170	180
LKNNREQVEV	VEFHSNKKRK	LTPDHNKNTK	QANPSVLERD	VDTQEFNLEK	ARLEVHRFGI
190	200	210	220	230	240
TGYGKGKERI	LEQERAIMLG	AKPPKKSYVN	YKVLQEQIKE	KKAAKEEEKR	LAQETDIFKK
250	260	270	280	290
KKRKGQEDRK	SKKKSAPSIL	SNGRIGQVGK	FKNGTLILSP	VDIKKINSSR	VAK