AiPD: Autoinhibited Protein Database

Q8IXN7

Gene name	RIMKLA (FAM80A)
Protein name	N-acetylaspartylglutamate synthase A
Names	NAAG synthetase A, NAAGS, N-acetylaspartylglutamylglutamate synthase A, Ribosomal protein S6 modification-like protein A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:284716
EC number	6.3.2.41: Acid--amino-acid ligases (peptide synthases)
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

195-266 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

195-266 (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 Q8IXN7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IXN7-F1	Predicted				AlphaFoldDB

265 variants for Q8IXN7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA339931310 rs1416210567	3	S>F		No	ClinGen TOPMed
CA799328 rs764219791	4	Q>R		No	ClinGen ExAC gnomAD
rs1327300135 CA339931357	7	F>L		No	ClinGen gnomAD
rs183454942 CA21211248	14	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
CA339931416 rs1403576761	14	R>S		No	ClinGen TOPMed
CA339931437 rs1272647825	15	E>D		No	ClinGen TOPMed gnomAD
CA339931489 rs1249136641	20	V>A		No	ClinGen TOPMed
CA21211261 rs912251721	20	V>L		No	ClinGen TOPMed gnomAD
rs1363713685 CA339931506	22	I>F		No	ClinGen gnomAD
CA339931546 rs1272410284	27	R>P		No	ClinGen gnomAD
rs942735335 CA21211276	27	R>W		No	ClinGen Ensembl
CA339931556 rs1272797913	28	Q>P		No	ClinGen TOPMed gnomAD
CA339931578 rs1570310650	30	C>S		No	ClinGen Ensembl
TCGA novel	31	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1216044900 CA339931629	33	Q>H		No	ClinGen TOPMed gnomAD
rs376719599 CA799330	34	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA339931658 rs1468038701	35	V>M		No	ClinGen TOPMed gnomAD
rs535540923 CA21211298	41	L>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA339931778 rs1451188363	41	L>V		No	ClinGen TOPMed
CA339931860 rs1160439972	45	I>V		No	ClinGen TOPMed
rs1457018577 CA339931881	46	A>S		No	ClinGen TOPMed
CA339932040 rs1164590689	54	L>V		No	ClinGen TOPMed
rs886609584 CA21225795	56	L>F		No	ClinGen TOPMed gnomAD
CA799343 rs772560837	60	Q>*		No	ClinGen ExAC gnomAD
rs1040663547 CA21225814	62	A>S		No	ClinGen TOPMed gnomAD
CA339934000 rs1040663547	62	A>T		No	ClinGen TOPMed gnomAD
rs1355347065 CA339934007	62	A>V		No	ClinGen TOPMed gnomAD
rs1281803479 CA339934051	66	F>C		No	ClinGen gnomAD
rs761185499 CA799345	67	P>L		No	ClinGen ExAC gnomAD
CA339934078 rs1284074877	68	D>N		No	ClinGen gnomAD
TCGA novel	70	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA799347 rs138538645	71	L>I		No	ClinGen ESP ExAC gnomAD
rs138538645 CA21225846	71	L>V		No	ClinGen ESP ExAC gnomAD
CA339934128 rs190666946	72	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs190666946 CA799348	72	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA339934140 rs1185284372	73	R>P		No	ClinGen TOPMed gnomAD
CA339934139 rs1185284372	73	R>Q		No	ClinGen TOPMed gnomAD
rs765489551 CA799349	73	R>W		No	ClinGen ExAC gnomAD
rs1234540029 CA339934143	74	V>I		No	ClinGen gnomAD
rs1292212671 CA339934188	78	S>L		No	ClinGen TOPMed gnomAD
rs113498116 CA21225877	80	Q>R		No	ClinGen Ensembl
rs1157590409 CA339934214	81	S>A		No	ClinGen gnomAD
rs766107532 CA339934263	85	I>L		No	ClinGen ExAC TOPMed gnomAD
CA339934265 rs1356518475	85	I>N		No	ClinGen TOPMed
rs766107532 CA799352	85	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1174626236 CA339934291	87	V>L		No	ClinGen gnomAD
CA339934312 rs780592194	89	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs745357277 CA21225917	89	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA339934372 rs1279918270	94	L>Q		No	ClinGen gnomAD
rs1319848280 CA339934377	95	G>S		No	ClinGen TOPMed
rs1275016299 CA339934405	97	R>Q		No	ClinGen gnomAD
rs201880930 CA799359	97	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	98	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs527886509 CA799360	99	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA799362 rs775856351	100	N>S		No	ClinGen ExAC TOPMed gnomAD
CA799363 rs747498612	101	R>C		No	ClinGen ExAC gnomAD
rs769155634 CA799364	101	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	102	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA799365 rs776978361	103	Q>H		No	ClinGen ExAC gnomAD
CA339934543 rs1397800360	109	I>T		No	ClinGen gnomAD
rs1170062299 CA339934539	109	I>V		No	ClinGen gnomAD
rs1338449333 CA339934548	110	N>H		No	ClinGen gnomAD
CA799366 rs369786340	110	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA799368 rs773440512	113	W>C		No	ClinGen ExAC gnomAD
CA799369 rs763096971	114	T>M		No	ClinGen ExAC TOPMed gnomAD
rs751321006 CA799371	116	Q>*		No	ClinGen ExAC gnomAD
rs1339965809 CA339934638	118	L>P		No	ClinGen gnomAD
rs754710016 CA799372	120	G>A		No	ClinGen ExAC TOPMed gnomAD
CA339934655 rs1256109617	121	H>R		No	ClinGen gnomAD
CA339934662 rs1171986843	122	G>E		No	ClinGen TOPMed
CA339934664 rs1171986843	122	G>V		No	ClinGen TOPMed
rs1570322543 CA339934669	123	V>G		No	ClinGen Ensembl
CA21226044 rs989553019	123	V>I		No	ClinGen gnomAD
CA339934673 rs1213784715	124	P>L		No	ClinGen gnomAD
CA799374 rs752573400	130	S>F		No	ClinGen ExAC gnomAD
CA339934722 rs1373948095	131	Y>C		No	ClinGen TOPMed gnomAD
rs1373948095 CA339934721	131	Y>F		No	ClinGen TOPMed gnomAD
rs763184926 CA799386	133	G>R		No	ClinGen ExAC gnomAD
rs1164141686 CA339928281	136	D>E		No	ClinGen gnomAD
CA339928301 rs771233628	139	K>I		No	ClinGen ExAC gnomAD
CA799387 rs771233628	139	K>T		No	ClinGen ExAC gnomAD
rs774408102 CA799388	140	M>I		No	ClinGen ExAC gnomAD
CA339928305 rs1557755855	140	M>V		No	ClinGen Ensembl
CA339928316 rs1360147107	141	I>T		No	ClinGen gnomAD
CA339928313 rs1159293560	141	I>V		No	ClinGen gnomAD
rs752196219 CA21184553 CA339928324	142	D>E		No	ClinGen Ensembl
rs759444508 CA799389	142	D>N		No	ClinGen ExAC gnomAD
rs1230458125 CA339928352	146	P>L		No	ClinGen TOPMed
CA799390 rs767201729	147	L>V		No	ClinGen ExAC TOPMed gnomAD
CA799392 rs760622156	152	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs758041002 CA21184558	155	S>N		No	ClinGen Ensembl
rs1017397440 CA21184560	157	R>*		No	ClinGen TOPMed gnomAD
CA339928424 rs1319334527	158	G>V		No	ClinGen gnomAD
rs368983518 CA799394	160	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA799395 rs368983518	160	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA799393 rs141548984	160	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1397289872 CA339928436	161	G>R		No	ClinGen gnomAD
TCGA novel	163	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339928826 rs1375670964	165	F>L		No	ClinGen gnomAD
TCGA novel	165	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA21186461 rs994017865	167	A>G		No	ClinGen TOPMed
CA799414 rs764596790	169	D>E		No	ClinGen ExAC gnomAD
CA339928878 rs1276580983	169	D>G		No	ClinGen gnomAD
CA799415 rs750097478	173	L>F		No	ClinGen ExAC gnomAD
CA339928950 rs1209868650	174	S>Y		No	ClinGen gnomAD
rs1341998310 CA339928963	175	D>A		No	ClinGen TOPMed
CA799417 rs781563645	176	I>V		No	ClinGen ExAC gnomAD
CA21186480 rs888217881	177	C>*		No	ClinGen TOPMed gnomAD
rs531896186 CA339928995	177	C>S		No	ClinGen gnomAD
rs531896186 CA21186477	177	C>Y		No	ClinGen gnomAD
rs1437939550 CA339929010	178	H>P		No	ClinGen TOPMed gnomAD
rs1437939550 CA339929008	178	H>R		No	ClinGen TOPMed gnomAD
rs775323132 CA799418	181	R>C		No	ClinGen ExAC TOPMed gnomAD
rs377484455 CA799419	181	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771055469 CA799422	186	Y>H		No	ClinGen ExAC gnomAD
rs1397111460 CA339929162	191	Y>C		No	ClinGen TOPMed
rs370687403 CA21186489	191	Y>D		No	ClinGen ESP TOPMed
CA799424 rs746132310	192	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1483592081 CA339929197	196	H>R		No	ClinGen gnomAD
rs1367932020 CA339929195	196	H>Y		No	ClinGen gnomAD
CA799425 rs535993496	198	K>R		No	ClinGen ExAC gnomAD
CA799426 rs535993496	198	K>T		No	ClinGen ExAC gnomAD
rs1309755149 CA339929213	199	D>N		No	ClinGen gnomAD
rs373051732 CA799427	200	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs371035515 CA799428	201	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA339929228 rs1257985060	201	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1417198056 CA339929231	202	V>M		No	ClinGen Ensembl
CA799430 rs761592786	203	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1477848333 CA339929253	205	V>A		No	ClinGen gnomAD
TCGA novel	205	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	207	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA799432 rs772552409	207	G>D		No	ClinGen ExAC gnomAD
CA339929264 rs772552409	207	G>V		No	ClinGen ExAC gnomAD
CA339929267 rs1422745099	208	Q>K		No	ClinGen gnomAD
rs762505750 CA339929293	212	S>A		No	ClinGen ExAC TOPMed gnomAD
CA799434 rs762505750	212	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1557757690 CA339929303	213	M>I		No	ClinGen Ensembl
CA799435 rs766060680	213	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA21186524 rs1012321279	213	M>V		No	ClinGen TOPMed gnomAD
rs751209721 CA799436	215	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA799437 rs756531741	215	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs764386461 CA799438	216	C>G		No	ClinGen ExAC gnomAD
rs764386461 CA799439	216	C>R		No	ClinGen ExAC gnomAD
rs757663003 CA799441	221	R>L		No	ClinGen ExAC TOPMed gnomAD
rs757663003 CA799440	221	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs375631796 CA21186539	221	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
TCGA novel	224	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745979959 CA799442	225	N>D		No	ClinGen ExAC TOPMed gnomAD
CA799443 rs758517233	227	S>A		No	ClinGen ExAC gnomAD
rs758517233 CA21186548	227	S>P		No	ClinGen ExAC gnomAD
rs1316667793 CA339929393	228	L>F		No	ClinGen gnomAD
rs370287563 CA799445	229	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA799461 rs758606201	231	V>M		No	ClinGen ExAC TOPMed gnomAD
CA799463 rs536295712	233	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA339929667 rs1262203812	234	K>R		No	ClinGen TOPMed
rs1179675270 CA339929678	235	C>G		No	ClinGen gnomAD
rs755204576 CA799464	236	P>L		No	ClinGen ExAC TOPMed gnomAD
CA339929695 rs1381747595	236	P>S		No	ClinGen gnomAD
CA799466 rs747937858	238	T>S		No	ClinGen ExAC gnomAD
rs763336933 CA21188181	246	I>M		No	ClinGen Ensembl
CA799470 rs770433412	247	Q>*		No	ClinGen ExAC gnomAD
rs773808447 CA799471	248	V>L		No	ClinGen ExAC gnomAD
CA799472 rs759206759	250	N>S		No	ClinGen ExAC gnomAD
CA339929931 rs1239629955	253	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA339930061 rs1202026166	257	C>R		No	ClinGen gnomAD
CA799474 rs775173295	260	D>E		No	ClinGen ExAC gnomAD
CA339930120 rs1321135339	260	D>N		No	ClinGen TOPMed
rs762148648 CA799475	261	L>F		No	ClinGen ExAC gnomAD
rs765619404 CA339930181	263	I>F		No	ClinGen ExAC TOPMed gnomAD
CA799476 rs765619404	263	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1439810917 CA339930197	264	M>T		No	ClinGen gnomAD
CA799478 rs185643836	265	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA799479 rs766592402	266	D>N		No	ClinGen ExAC TOPMed gnomAD
CA339930279 rs1173594673	268	S>A		No	ClinGen gnomAD
rs1002007701 CA21188228	268	S>Y		No	ClinGen TOPMed
CA339930456 rs1397792351	276	A>T		No	ClinGen TOPMed
CA339930510 rs1402077683	278	V>A		No	ClinGen gnomAD
CA339930697 rs1401072435	287	C>Y		No	ClinGen gnomAD
rs1307333634 CA339930731	288	N>S		No	ClinGen gnomAD
CA339930754 rs1373549647	290	D>Y		No	ClinGen gnomAD
CA21188239 rs35815779	291	V>A		No	ClinGen gnomAD
CA339930783 rs1193404341	292	G>C		No	ClinGen TOPMed gnomAD
rs1193404341 CA339930776	292	G>S		No	ClinGen TOPMed gnomAD
CA339930811 rs1330897253	294	I>T		No	ClinGen TOPMed
CA339930820 rs1275274669	295	I>V		No	ClinGen gnomAD
rs1344066731 CA339930837	296	A>T		No	ClinGen gnomAD
CA799484 rs755876389	296	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1168234368 CA339930870	300	M>T		No	ClinGen TOPMed
CA799485 rs777559216	304	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA799486 rs144595716	305	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs144595716 CA339930898	305	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1235968966 CA339930925	308	T>I		No	ClinGen TOPMed gnomAD
CA339930924 rs1235968966	308	T>S		No	ClinGen TOPMed gnomAD
CA339930931 rs1453010006	309	G>E		No	ClinGen TOPMed gnomAD
rs199605892 CA21188255	311	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs984045903 CA21188260	312	A>T		No	ClinGen TOPMed
CA799487 rs770805119	313	V>I		No	ClinGen ExAC gnomAD
rs1457338489 CA339930973	316	G>E		No	ClinGen gnomAD
rs904688570 CA21188267	317	L>P		No	ClinGen gnomAD
CA339930985 rs1465165727	318	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1424986937 CA339930981	318	S>P		No	ClinGen TOPMed gnomAD
CA799489 rs745422365	319	S>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	321	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1392220943 CA339931010	322	E>G		No	ClinGen gnomAD
rs771603211 CA799490	323	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA339931033 rs1230814759	325	E>G		No	ClinGen gnomAD
rs34142209 CA799492	325	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1279997473 CA339931037	326	P>A		No	ClinGen TOPMed gnomAD
rs199674761 CA799493	326	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA799494 rs199674761	326	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	327	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	328	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372150019 CA21188281	329	C>Y		No	ClinGen ESP TOPMed
CA799496 rs150984747	330	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA21188298 rs1015307927	333	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	334	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752112614 CA799497	336	A>P		No	ClinGen ExAC gnomAD
CA21188306 rs554990152	338	S>G		No	ClinGen 1000Genomes
CA339931118 rs190498920	339	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA799498 rs190498920	339	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA799499 rs375462061	340	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA339931130 rs1196378378	341	T>S		No	ClinGen gnomAD
rs1264490166 CA339931143	343	N>D		No	ClinGen gnomAD
rs1440340153 CA339931146	343	N>S		No	ClinGen TOPMed
rs368593698 CA21188345	344	S>C		No	ClinGen ESP TOPMed gnomAD
CA21188347 rs994712313	345	G>E		No	ClinGen Ensembl
rs1197229338 CA339931167	346	S>F		No	ClinGen TOPMed
rs377317775 CA799500	347	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1055055 CA339931185	349	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1557759264 CA339931190	350	E>V		No	ClinGen Ensembl
CA339931208 rs1310046693	352	E>A		No	ClinGen TOPMed
CA799503 rs140250649	355	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs757013970 CA339931231	356	G>E		No	ClinGen ExAC gnomAD
rs112125910 CA21188355	356	G>R		No	ClinGen Ensembl
rs757013970 CA799504	356	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA339931241 rs1213438840	358	I>L		No	ClinGen gnomAD
rs200652116 CA799506	359	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA799505 rs369934711	359	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs563282299 CA21188372	360	D>G		No	ClinGen 1000Genomes gnomAD
CA799508 rs779546982	360	D>N		No	ClinGen ExAC gnomAD
rs149146035 CA799510	365	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA799511 rs776396357	365	T>I		No	ClinGen ExAC gnomAD
rs1472600983 CA339931339	367	G>E		No	ClinGen gnomAD
rs878921873 CA21188390	368	A>G		No	ClinGen TOPMed gnomAD
CA339931361 rs878921873	368	A>V		No	ClinGen TOPMed gnomAD
rs760358762	369	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA799514 rs771409634	371	S>Y		No	ClinGen ExAC gnomAD
CA799515 rs775012834	372	M>I		No	ClinGen ExAC TOPMed gnomAD
rs377006477 CA21188394	374	P>L		No	ClinGen TOPMed gnomAD
rs760022684 CA799516	374	P>S		No	ClinGen ExAC gnomAD
CA799519 rs369104105	375	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs369104105 CA799520	375	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1421801193 CA339931486	376	P>R		No	ClinGen gnomAD
CA339931481 rs1366900646	376	P>S		No	ClinGen gnomAD
CA339931492 rs1159493708	377	G>R		No	ClinGen gnomAD
CA339931490 rs1159493708	377	G>S		No	ClinGen gnomAD
CA799522 rs757097592	379	N>H		No	ClinGen ExAC gnomAD
rs764950757 CA799526	380	I>M		No	ClinGen ExAC
rs1033483392 CA799524	380	I>V		No	ClinGen TOPMed gnomAD
CA339931631 rs1396076884	381	N>S		No	ClinGen gnomAD
rs888276297 CA21188413	382	N>K		No	ClinGen TOPMed
CA339931752 rs1165194640	385	A>T		No	ClinGen gnomAD
rs1241818443 CA339931895	390	L>F		No	ClinGen gnomAD
rs1287736484 CA339931932	391	K>N		No	ClinGen TOPMed
rs779836204 CA799529	391	K>Q		No	ClinGen ExAC gnomAD

No associated diseases with Q8IXN7

2 regional properties for Q8IXN7

Type	Name	Position	InterPro Accession
domain	ATP-grasp fold	115 - 300	IPR011761
domain	ATP-grasp fold, RimK-type	110 - 297	IPR013651

Functions

		Description
EC Number	6.3.2.41	Acid--amino-acid ligases (peptide synthases)
Subcellular Localization	Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ligase activity, forming carbon-nitrogen bonds	Catalysis of the joining of two molecules, or two groups within a single molecule, via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate.
metal ion binding	Binding to a metal ion.
N-acetyl-L-aspartate-L-glutamate ligase activity	Catalysis of the reaction: ATP + N-acetyl-L-aspartate + L-glutamate = ADP + phosphate + N-acetylaspartyl-glutamate.

2 GO annotations of biological process

Name	Definition
glutamine family amino acid metabolic process	The chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline.
protein modification process	The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification).

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q0VCE9	RIMKLB	Beta-citrylglutamate synthase B	Bos taurus (Bovine)	PR
Q9ULI2	RIMKLB	Beta-citrylglutamate synthase B	Homo sapiens (Human)	PR
Q80WS1	Rimklb	Beta-citrylglutamate synthase B	Mus musculus (Mouse)	PR
Q6PFX8	Rimkla	N-acetylaspartylglutamate synthase A	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MCSQLWFLTD	RRIREDYPQV	QILRALRQRC	SEQDVRFRAV	LMDQIAVTIV	GGHLGLQLNQ
70	80	90	100	110	120
KALTTFPDVV	LVRVPTPSVQ	SDSDITVLRH	LEKLGCRLVN	RPQSILNCIN	KFWTFQELAG
130	140	150	160	170	180
HGVPMPDTFS	YGGHEDFSKM	IDEAEPLGYP	VVVKSTRGHR	GKAVFLARDK	HHLSDICHLI
190	200	210	220	230	240
RHDVPYLFQK	YVKESHGKDI	RVVVVGGQVI	GSMLRCSTDG	RMQSNCSLGG	VGVKCPLTEQ
250	260	270	280	290	300
GKQLAIQVSN	ILGMDFCGID	LLIMDDGSFV	VCEANANVGF	LAFDQACNLD	VGGIIADYTM
310	320	330	340	350	360
SLLPNRQTGK	MAVLPGLSSP	REKNEPDGCA	SAQGVAESVY	TINSGSTSSE	SEPELGEIRD
370	380	390
SSASTMGAPP	SMLPEPGYNI	NNRIASELKL	K