AiPD: Autoinhibited Protein Database

Q13155

Gene name	AIMP2 (JTV1, PRO0992)
Protein name	Aminoacyl tRNA synthase complex-interacting multifunctional protein 2
Names	Multisynthase complex auxiliary component p38, Protein JTV-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7965
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

10-84 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

10-84 (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

12 structures for Q13155

Entry ID	Method	Resolution	Chain	Position	Source
4DPG	X-ray	284 A	I/J/K/L	1-48	PDB
4YCU	X-ray	210 A	C	1-36	PDB
4YCW	X-ray	290 A	C/D/G/H	1-36	PDB
5A1N	X-ray	210 A	B	90-320	PDB
5A34	X-ray	260 A	B/D/F/H	90-320	PDB
5A5H	X-ray	232 A	B/D/F/H	90-320	PDB
5Y6L	X-ray	290 A	D	89-320	PDB
6ILD	X-ray	188 A	C	1-36	PDB
6IY6	X-ray	360 A	C/D/I/J	115-320	PDB
6JPV	X-ray	215 A	A/B	24-32	PDB
6K39	X-ray	140 A	A/B	25-32	PDB
AF-Q13155-F1	Predicted				AlphaFoldDB

374 variants for Q13155

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1786357576 RCV003120520 RCV001266861	24	M>missing	Leukodystrophy, hypomyelinating, 17 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001265672 rs1786358808	25	Y>*	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA153253170 CA4150193 rs780037791 RCV001267235 RCV002542849	29	N>K	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA366745462 RCV000656387 RCV000579202 rs529613640	35	Y>*	Leukodystrophy, hypomyelinating, 17 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
VAR_081108	35	Y>del	HLD17 [UniProt]	Yes	UniProt
rs765088234 RCV001267234	76	L>F	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA366745267 rs1401543115	2	P>R		No	ClinGen TOPMed
CA366745272 rs1408389683	3	M>T		No	ClinGen TOPMed
rs767031199 CA4150164	4	Y>H		No	ClinGen ExAC gnomAD
rs754373311 CA4150165	5	Q>H		No	ClinGen ExAC gnomAD
rs139842556 CA366745292 CA4150166 RCV000513077	6	V>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA366745307 rs1434767478	8	P>R		No	ClinGen TOPMed gnomAD
rs377537932 CA4150167	8	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs371044703 CA4150169	9	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4150170 rs777401869	10	H>Q		No	ClinGen ExAC gnomAD
rs1049013110 CA153253078	11	G>A		No	ClinGen TOPMed
rs1367182950 CA366745328	12	G>S		No	ClinGen gnomAD
CA366745337 rs1305890535	13	G>D		No	ClinGen gnomAD
CA4150173 rs145891242	15	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4150174 rs745755330	15	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4150175 rs768787708	16	L>F		No	ClinGen ExAC TOPMed gnomAD
CA366745350 rs768787708	16	L>I		No	ClinGen ExAC TOPMed gnomAD
CA366745357 rs1205665747	17	R>C		No	ClinGen gnomAD
rs774238548 CA4150176	17	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1254470488 CA366745362	18	V>E		No	ClinGen gnomAD
CA4150178 rs772489394	18	V>M		No	ClinGen ExAC gnomAD
CA366745367 rs1356694182	19	E>*		No	ClinGen TOPMed
CA4150180 rs761170066	20	L>F		No	ClinGen ExAC gnomAD
rs766798963 CA4150181	21	P>A		No	ClinGen ExAC gnomAD
CA4150182 rs777224660	21	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4150184 rs764813325	22	T>A		No	ClinGen ExAC TOPMed gnomAD
rs563884789 CA4150185	22	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs563884789 CA153253149	22	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1371935734 CA366745386	23	C>G		No	ClinGen gnomAD
rs1371935734 CA366745387	23	C>S		No	ClinGen gnomAD
CA4150187 rs763789143	24	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1324538398 CA366745398	24	M>R		No	ClinGen TOPMed
CA366745397 rs1324538398	24	M>T		No	ClinGen TOPMed
CA366745394 rs1178019019	24	M>V		No	ClinGen gnomAD
rs1163035440 CA366745403	25	Y>H		No	ClinGen TOPMed
rs147658637 CA4150188	25	Y>S		No	ClinGen ESP ExAC
rs757077360 CA4150189	26	R>G		No	ClinGen ExAC
rs1562714936 CA366745409	26	R>Q		No	ClinGen Ensembl
CA366745413 rs1410082930	27	L>F		No	ClinGen TOPMed
TCGA novel	28	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA153253166 rs762176789	28	P>R		No	ClinGen Ensembl
CA366745425 rs1381117753	29	N>D		No	ClinGen TOPMed gnomAD
CA366745424 rs1381117753	29	N>H		No	ClinGen TOPMed gnomAD
CA366745428 rs1289756357	29	N>I		No	ClinGen TOPMed gnomAD
rs1289756357 CA366745427	29	N>S		No	ClinGen TOPMed gnomAD
rs1489732343 CA366745432	30	V>A		No	ClinGen TOPMed
TCGA novel	30	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4150194 rs748215903	30	V>L		No	ClinGen ExAC gnomAD
CA366745434 rs772254141	31	H>N		No	ClinGen ExAC TOPMed gnomAD
rs200865484 CA4150197	31	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	31	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4150195 rs772254141	31	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA4150199 rs200362634	32	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4150198 rs200362634	32	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366745444 rs1222419962	33	R>G		No	ClinGen TOPMed
rs759928476 CA4150200	33	R>K		No	ClinGen ExAC gnomAD
CA366745448 rs143172305	33	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs376884722 CA366745455	34	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs373875101 CA4150202	34	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs763558610 CA4150204	35	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA366745457 rs1166776475	35	Y>N		No	ClinGen gnomAD
rs767186611 CA4150207	36	G>A		No	ClinGen ExAC TOPMed gnomAD
CA366745466 rs767186611	36	G>D		No	ClinGen ExAC TOPMed gnomAD
CA4150206 rs756846471	36	G>R		No	ClinGen ExAC TOPMed gnomAD
rs756846471 CA366745464	36	G>S		No	ClinGen ExAC TOPMed gnomAD
rs6977072 CA4150208	37	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4150210 rs779905444	37	P>L		No	ClinGen ExAC TOPMed gnomAD
rs6977072 CA366745468	37	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs6977072 CA4150209	37	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1425545017 CA366745476	38	A>V		No	ClinGen TOPMed
rs911581824 CA153253252	39	P>Q		No	ClinGen TOPMed gnomAD
rs747245459 CA4150214	40	G>A		No	ClinGen ExAC TOPMed gnomAD
CA366745491 rs1262349842	41	A>G		No	ClinGen TOPMed gnomAD
CA366745487 rs1205730394	41	A>T		No	ClinGen gnomAD
CA4150216 rs781469061	42	G>A		No	ClinGen ExAC gnomAD
CA4150218 rs770150314	43	H>L		No	ClinGen ExAC TOPMed
CA4150219 rs775895677	43	H>Q		No	ClinGen ExAC gnomAD
CA4150217 rs746270222	43	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs763387407 CA4150220	44	V>M		No	ClinGen ExAC gnomAD
CA4150221 rs533202651	45	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs921676183 CA153253315	45	Q>R		No	ClinGen TOPMed
rs1262546153 CA366745999	48	S>C		No	ClinGen gnomAD
CA4150250 rs753742279	48	S>P		No	ClinGen ExAC gnomAD
CA4150253 rs752636335	51	S>C		No	ClinGen ExAC gnomAD
CA4150255 rs778920772	52	L>P		No	ClinGen ExAC TOPMed gnomAD
rs368275022 CA4150254	52	L>V		No	ClinGen ExAC TOPMed gnomAD
rs750626949 CA4150256	53	Q>H		No	ClinGen ExAC gnomAD
CA153259732 rs983198652	54	A>T		No	ClinGen Ensembl
CA4150258 rs577935179	58	R>C		No	ClinGen ExAC TOPMed gnomAD
rs190724823 CA4150259	58	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4150261 rs779417356	61	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1000124086 CA153259784	61	D>H		No	ClinGen TOPMed
rs1243444300 CA366746090	63	L>S		No	ClinGen TOPMed
CA366746094 rs1340320160	64	K>Q		No	ClinGen TOPMed
COSM1182324 CA4150263 rs140850823	65	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs140850823 CA153259797	65	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366746103 rs1393448099 COSM1091109	65	R>H	oesophagus Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1391858288 CA366746115	67	Y>C		No	ClinGen gnomAD
rs746484855 CA4150265	68	E>D		No	ClinGen ExAC TOPMed gnomAD
CA4150266 rs770679503	71	A>V		No	ClinGen ExAC gnomAD
rs150139402 CA4150268	73	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1380000980 CA366746152	73	V>I		No	ClinGen gnomAD
rs765088234 CA4150269	76	L>V		No	ClinGen ExAC gnomAD
CA4150270 rs775575419	78	K>R		No	ClinGen ExAC TOPMed gnomAD
CA4150271 rs762892628	80	I>T		No	ClinGen ExAC gnomAD
rs1234204854 CA366746205	81	Q>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4150272 rs138662841	82	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs564323960 CA4150274	83	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4150273 rs564323960	83	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564323960 CA4150275	83	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs934141232 CA366746220	84	D>H		No	ClinGen TOPMed gnomAD
CA153259888 rs934141232	84	D>N		No	ClinGen TOPMed gnomAD
CA4150276 rs374046815	85	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA366746235 rs1426951342	86	D>A		No	ClinGen gnomAD
CA366746239 rs1490720634	86	D>E		No	ClinGen TOPMed
rs1208684354 CA366746262	90	T>A		No	ClinGen TOPMed
CA4150277 rs368008892	90	T>I		No	ClinGen ESP ExAC gnomAD
rs775979886 CA4150279	91	N>D		No	ClinGen ExAC TOPMed gnomAD
CA366746272 rs961881056	91	N>K		No	ClinGen TOPMed gnomAD
VAR_058392	92	I>V	a lung cancer cell line; reduced interaction with TP53, loss of TP53 activation and loss of proapoptotic activity [UniProt]	No	UniProt
CA4150280 rs374710868	94	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs935062671 CA153259934	94	Q>R		No	ClinGen Ensembl
CA366746294 rs1562724813	95	A>P		No	ClinGen Ensembl
TCGA novel	95	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368845750 CA4150281 COSM1091110	95	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA153259949 rs1052534772	96	D>Y		No	ClinGen TOPMed
rs1386235418 CA366746307	97	E>*		No	ClinGen TOPMed
CA153259962 rs374687277	97	E>A		No	ClinGen Ensembl
VAR_058393	97	E>DLS	a lung cancer cell line; no effect on proapoptotic activity [UniProt]	No	UniProt
rs770539126 CA4150283	98	P>S		No	ClinGen ExAC gnomAD
rs745450651 CA4150285	99	T>M		No	ClinGen ExAC gnomAD
CA4150286 rs769728324	101	L>S		No	ClinGen ExAC TOPMed gnomAD
COSM1735019 CA4150287 rs372295850	103	T>I	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA366746344 rs372295850	103	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4150288 rs762651435	104	N>S		No	ClinGen ExAC TOPMed gnomAD
rs774134623 CA4150290	105	A>E		No	ClinGen ExAC TOPMed gnomAD
CA4150291 rs774134623	105	A>V		No	ClinGen ExAC TOPMed gnomAD
rs754061405 CA4150293	107	D>Y		No	ClinGen ExAC gnomAD
rs1447045312 CA366746373 COSM1313217	108	L>F	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1211111262 CA366746381	109	N>K		No	ClinGen TOPMed
CA153260006 rs990903521	109	N>S		No	ClinGen TOPMed gnomAD
CA4150295 rs375295993	111	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA153260035 rs762568088	113	G>E		No	ClinGen Ensembl
CA4150296 rs373626338	113	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs758656381 CA4150297	114	K>*		No	ClinGen ExAC gnomAD
CA4150298 rs758656381	114	K>Q		No	ClinGen ExAC gnomAD
CA4150324 rs768501526	115	D>H		No	ClinGen ExAC gnomAD
CA366746422 rs768501526	115	D>N		No	ClinGen ExAC gnomAD
rs1562727569 CA572822534	116	Y>*		No	ClinGen Ensembl
CA4150325 rs778512251	116	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA366746430 rs1294023165	116	Y>S		No	ClinGen gnomAD
rs375102151 CA4150327	117	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs773098686 CA4150328	118	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4150330 rs769710704	119	L>V		No	ClinGen ExAC gnomAD
CA4150331 rs775788927	120	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs200028351 CA153262645	121	D>G		No	ClinGen gnomAD
CA366746463 rs763030358	122	I>L		No	ClinGen ExAC gnomAD
rs764368950 CA366746466	122	I>S		No	ClinGen ExAC TOPMed gnomAD
rs764368950 CA4150333 COSM268627	122	I>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4150332 rs763030358	122	I>V		No	ClinGen ExAC gnomAD
rs1562727657 CA366746469	123	V>L		No	ClinGen Ensembl
TCGA novel	123	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1304859703 CA366746474	124	I>L		No	ClinGen TOPMed
CA4150336 rs762237456	124	I>M		No	ClinGen ExAC gnomAD
rs750912720 CA4150337	125	N>S		No	ClinGen ExAC gnomAD
CA4150339 rs550952758	126	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4150340 rs373372974	127	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA366746494 rs1583457348	127	N>T		No	ClinGen Ensembl
rs778622819 CA4150342	128	P>A		No	ClinGen ExAC TOPMed gnomAD
CA4150343 COSM1451703 rs747974072	128	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs778622819 CA366746500	128	P>S		No	ClinGen ExAC TOPMed gnomAD
rs17855441 VAR_025521 CA153262703	129	A>G		No	ClinGen UniProt dbSNP gnomAD
CA366746506 rs17855441	129	A>V		No	ClinGen gnomAD
CA4150346 rs777707483	130	S>F		No	ClinGen ExAC gnomAD
rs1296381315 CA366746515	131	P>A		No	ClinGen TOPMed
TCGA novel	131	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	131	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1231114699 CA366746527	133	L>F		No	ClinGen gnomAD
rs746905456 CA4150347	133	L>P		No	ClinGen ExAC gnomAD
CA4150348 rs769933568	134	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1431221728 CA366746541	136	L>V		No	ClinGen TOPMed
rs765096358 CA366746554	138	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs765096358 CA153262751	138	L>Q		No	ClinGen gnomAD
CA366746564 rs1424120170	139	H>Q		No	ClinGen TOPMed
CA153262756 rs946176280	140	R>K		No	ClinGen TOPMed
CA366746570 rs774693908	140	R>S		No	ClinGen ExAC TOPMed gnomAD
CA153262793 rs1049065707	141	L>R		No	ClinGen TOPMed
rs1383497501 CA366746576	142	L>V		No	ClinGen gnomAD
rs767955463 CA4150355	143	C>S		No	ClinGen ExAC TOPMed gnomAD
rs554964581 CA4150356	143	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767955463 CA366746584	143	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1583457550 CA366746591	144	E>G		No	ClinGen Ensembl
rs1167436165 CA366746598	145	H>R		No	ClinGen gnomAD
CA366746616 rs761028688	147	R>S		No	ClinGen ExAC gnomAD
CA366746619 rs549852720	148	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366746622 rs1583457593	148	V>G		No	ClinGen Ensembl
rs549852720 CA4150358	148	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4150359 rs765640941	151	T>M		No	ClinGen ExAC TOPMed gnomAD
CA4150361 COSM1451704 rs764843355	153	H>Y	large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM268628 rs75895975 CA4150362	154	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs374990034 CA4150364	155	H>P		No	ClinGen ESP ExAC gnomAD
COSM747342 CA4150365 rs746796665	156	S>F	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA366746674 rs1562728093 COSM179361	157	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1314840632 CA366746676	158	V>L		No	ClinGen TOPMed
rs931014900 CA366746687	159	K>N		No	ClinGen TOPMed gnomAD
rs774747119 CA4150370	161	V>E		No	ClinGen ExAC gnomAD
CA4150369 rs768732685	161	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1189753900 CA366746709	163	E>K		No	ClinGen TOPMed gnomAD
rs1583457746 CA366746718	164	N>T		No	ClinGen Ensembl
rs1013331223 CA366746724	165	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	165	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1013331223 CA153262924	165	L>V		No	ClinGen TOPMed gnomAD
CA4150373 rs773768066	166	L>H		No	ClinGen ExAC gnomAD
RCV000965357 CA4150372 rs34525431 VAR_050125	166	L>I		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs771380350 CA4150375	167	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs777169814 CA366746757	168	C>W		No	ClinGen ExAC TOPMed gnomAD
rs141537839 CA4150377	170	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4150379 rs923027283	173	N>K		No	ClinGen gnomAD
CA366746799 rs1335537270	173	N>S		No	ClinGen gnomAD
CA366746805 rs1441116607	174	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs542587504 CA4150382	175	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4150383 rs762654416	175	K>N		No	ClinGen ExAC gnomAD
rs542587504 CA4150381	175	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751354172 CA4150385	176	Q>H		No	ClinGen ExAC gnomAD
rs560844337 CA4150384	176	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1205639853 CA366746829	177	P>S		No	ClinGen TOPMed
rs200566166 CA153263059	178	R>C		No	ClinGen ExAC gnomAD
rs200566166 CA4150387	178	R>G		No	ClinGen ExAC gnomAD
rs766723249 CA153263064	178	R>H		No	ClinGen gnomAD
CA4150388 rs750336358 COSM3431710	179	Q>E	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	179	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA153263066 rs981257367	180	D>E		No	ClinGen Ensembl
TCGA novel	181	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1234766123 CA366746851	181	Y>H		No	ClinGen gnomAD
CA366746863 rs1393819667	182	Q>H		No	ClinGen gnomAD
rs755018110 CA4150389	182	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA366746861 rs755018110	182	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs779079471 CA4150390	184	G>E		No	ClinGen ExAC TOPMed
CA366746889 rs1456013597	187	L>I		No	ClinGen gnomAD
CA366746901 rs1173669660	188	I>N		No	ClinGen TOPMed gnomAD
CA153263082 rs377624555	189	W>L		No	ClinGen Ensembl
rs1396282189 CA366746916	190	K>T		No	ClinGen gnomAD
rs748222802 CA4150391	191	N>S		No	ClinGen ExAC gnomAD
CA4150423 rs776366708	193	P>L		No	ClinGen ExAC TOPMed gnomAD
CA366747425 rs776366708	193	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1163788754 CA366747438	195	T>M		No	ClinGen TOPMed gnomAD
rs142387037 CA4150426	196	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA4150427 rs760513787	200	S>R		No	ClinGen ExAC
CA4150428 rs766467029	203	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753779282 CA4150429	204	M>T		No	ClinGen ExAC gnomAD
rs758577601 CA4150430	205	C>*		No	ClinGen ExAC TOPMed gnomAD
rs11544566 CA4150434	208	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA153268353 rs926430593	209	G>D		No	ClinGen TOPMed
CA153268317 VAR_058394 rs982080297	209	G>S	a lung cancer cell line; no effect on proapoptotic activity [UniProt]	No	ClinGen UniProt TOPMed dbSNP
CA4150436 rs756425703	210	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1462376384 CA366747619	211	G>W		No	ClinGen TOPMed
rs749728733 CA4150438	213	I>T		No	ClinGen ExAC TOPMed gnomAD
CA366747654 rs1161751628	214	A>T		No	ClinGen TOPMed
rs377482895 CA4150439	215	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4150440 rs150887968	215	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA153268406 rs761417289	217	L>F		No	ClinGen Ensembl
CA4150442 rs150874145	219	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs760123492 RCV001092554	220	L>missing		No	ClinVar dbSNP
rs370941772 CA4150443	221	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA366747737 rs1253653601	221	F>S		No	ClinGen gnomAD
CA4150445 rs760568809	223	Q>R		No	ClinGen ExAC gnomAD
CA4150446 rs369386259	225	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA4150447 rs776710794	225	H>Q		No	ClinGen ExAC
CA366747789 rs1209085120	225	H>R		No	ClinGen TOPMed
CA366747785 rs369386259	225	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160411494 CA366747799	226	N>D		No	ClinGen gnomAD
CA366747795 rs1160411494	226	N>H		No	ClinGen gnomAD
CA4150448 rs139398981	226	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4150450 rs765070549	227	A>T		No	ClinGen ExAC gnomAD
rs1310790068 CA366747811	227	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4150454 rs575274304	228	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751703423 CA366747818	228	V>I		No	ClinGen ExAC gnomAD
CA4150452 rs751703423	228	V>L		No	ClinGen ExAC gnomAD
rs764803060 CA4150456	229	N>K		No	ClinGen ExAC gnomAD
rs1352361945 CA366747834	229	N>S		No	ClinGen TOPMed
rs756474990 CA4150457	230	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs370354397 CA4150458	230	A>V		No	ClinGen ESP ExAC gnomAD
CA4150459 rs749640780	232	L>F		No	ClinGen ExAC gnomAD
rs749640780 CA366747864	232	L>V		No	ClinGen ExAC gnomAD
CA4150460 rs374243514	235	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4150461 rs779256399	236	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA153268525 rs1041316079	236	W>R		No	ClinGen TOPMed gnomAD
rs777600343 CA4150464	239	I>T		No	ClinGen ExAC gnomAD
CA4150463 rs542661636	239	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1437317399 CA366747949	240	A>T		No	ClinGen gnomAD
rs140208111 CA4150465	240	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4150466 rs770859885	243	Q>H		No	ClinGen ExAC gnomAD
rs1418034441 CA366747978	244	L>S		No	ClinGen TOPMed
CA366747983 rs1174414194	245	K>E		No	ClinGen TOPMed
CA366748006 rs1360732124	248	S>C		No	ClinGen gnomAD
rs909484169 CA153268561	248	S>N		No	ClinGen Ensembl
rs769821226 CA4150469	249	S>G		No	ClinGen ExAC
TCGA novel	251	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1466315276 CA366748027	251	E>Q		No	ClinGen gnomAD
rs775245397 CA4150470	253	A>S		No	ClinGen ExAC gnomAD
rs767430426 CA366748047	254	A>P		No	ClinGen ExAC TOPMed gnomAD
CA4150472 rs767430426	254	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4150473 rs750657628	255	V>I		No	ClinGen ExAC gnomAD
rs1198048843 CA366748062	256	F>C		No	ClinGen TOPMed
CA4150475 rs760946189	257	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4150476 rs145632958	257	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel CA366748068 rs145632958	257	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA 1000Genomes ESP ExAC TOPMed gnomAD
rs375888796 CA4150479	259	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1250422075 CA366748078	259	M>T		No	ClinGen gnomAD
rs755273615 CA4150478	259	M>V		No	ClinGen ExAC TOPMed gnomAD
rs901996125 CA153268668	261	S>P		No	ClinGen Ensembl
rs757926814 CA4150481	263	L>V		No	ClinGen ExAC gnomAD
CA4150482 rs777357626	264	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1490291771 CA366748122	266	S>N		No	ClinGen gnomAD
CA366748135 rs1189420601	268	W>G		No	ClinGen gnomAD
CA153268682 rs997976538	268	W>S		No	ClinGen TOPMed
rs770771902 CA366748148	270	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4150484 rs770771902	270	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780972148 CA4150485	272	N>S		No	ClinGen ExAC gnomAD
TCGA novel	273	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468784875 CA366748182	275	T>N		No	ClinGen gnomAD
rs147246097 CA4150487 COSM242881	276	V>I	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA366748207 rs1160401203	279	V>G		No	ClinGen TOPMed gnomAD
rs374123170 CA4150490	279	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA153268723 rs893082791	280	V>M		No	ClinGen TOPMed gnomAD
rs773350468 CA4150491	281	L>P		No	ClinGen ExAC gnomAD
rs1368842334 CA366748215	281	L>V		No	ClinGen gnomAD
CA4150492 rs760716532	282	W>L		No	ClinGen ExAC gnomAD
rs760716532 CA4150493	282	W>S		No	ClinGen ExAC gnomAD
CA4150494 rs754007971	283	S>F		No	ClinGen ExAC gnomAD
rs1374586427 CA366748234	284	V>A		No	ClinGen TOPMed
CA4150495 rs759973375	284	V>I		No	ClinGen ExAC TOPMed gnomAD
CA366748231 rs759973375	284	V>L		No	ClinGen ExAC TOPMed gnomAD
rs765449737 CA4150496	285	L>F		No	ClinGen ExAC gnomAD
rs758885310 CA4150498	286	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA4150499 rs189587013	287	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1477363279 CA366748252	287	Q>P		No	ClinGen TOPMed
rs751152417 CA366748255	288	I>F		No	ClinGen ExAC TOPMed gnomAD
rs751152417 CA4150500	288	I>V		No	ClinGen ExAC TOPMed gnomAD
rs745445513 CA4150503	289	G>R		No	ClinGen ExAC TOPMed gnomAD
rs565466567 CA153268786	292	S>G		No	ClinGen 1000Genomes
rs1417372255 CA366748288	293	V>M		No	ClinGen TOPMed gnomAD
CA366748295 rs1583469908	294	T>K		No	ClinGen Ensembl
rs749107344 CA4150506	295	V>L		No	ClinGen ExAC gnomAD
CA366748298 rs749107344	295	V>M		No	ClinGen ExAC gnomAD
CA153268821 rs1022792814	296	P>L		No	ClinGen TOPMed gnomAD
CA4150508 rs371505435	297	A>G		No	ClinGen ESP ExAC TOPMed
CA4150507 rs768623646	297	A>S		No	ClinGen ExAC gnomAD
rs1296854295 CA366748316	298	N>S		No	ClinGen gnomAD
rs1400949174 CA366748334	301	R>G		No	ClinGen gnomAD
CA4150510 CA153268845 rs375897273	303	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA366748351 rs1278445417	303	M>V		No	ClinGen gnomAD
rs1450412066 CA366748359	304	R>K		No	ClinGen TOPMed
rs368862792 CA4150511	306	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1291481810 CA366748375	306	C>Y		No	ClinGen gnomAD
rs1283740223 CA366748394	309	L>V		No	ClinGen gnomAD
rs1194037382 CA366748402	310	A>G		No	ClinGen gnomAD
rs765484017 CA4150513	310	A>T		No	ClinGen ExAC gnomAD
rs1257101048 CA366748413	312	F>S		No	ClinGen TOPMed gnomAD
rs1471966476 CA366748419	313	N>H		No	ClinGen gnomAD
rs766312290 CA153268867	314	T>A		No	ClinGen Ensembl
COSM1182325 CA4150514 rs372238513	314	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs751316385 CA366748436	316	L>F		No	ClinGen ExAC TOPMed gnomAD
rs751316385 CA4150516	316	L>V		No	ClinGen ExAC TOPMed gnomAD
CA366748450 rs1420707837	318	L>F		No	ClinGen gnomAD
rs1562736624 CA366748459	319	L>P		No	ClinGen Ensembl
rs1236532294 CA366748464	320	K>M		No	ClinGen TOPMed
rs79993082 CA4150520	320	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366748460 rs1445406759	320	K>Q		No	ClinGen TOPMed gnomAD

No associated diseases with Q13155

1 regional properties for Q13155

Type	Name	Position	InterPro Accession
domain	Aminoglycoside phosphotransferase	144 - 438	IPR002575

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytosol Nucleus	Following DNA damage, dissociates from the aminoacyl-tRNA synthase complex and translocates from the cytoplasm to the nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
aminoacyl-tRNA synthetase multienzyme complex	A multienzyme complex found in all multicellular eukaryotes composed of eight proteins with aminoacyl-tRNA synthetase activities (abbreviated as: ArgRS, AspRS, GluProRS, GlnRS, IleRS, LeuRS, LysRS, MetRS where RS is the enzyme, preceded by the amino acid it uses as a substrate) as well as three non-synthetase proteins (p43, p38, and p18) with diverse functions. Several of these subunits are known dimers, so the total polypeptide count in the multisynthetase complex is at least fifteen. All of the enzymes in this assembly catalyze the same reaction, the covalent attachment of an amino acid to either the 2'- or 3'-hydroxyl of the 3'-terminal adenosine of tRNA, but using different substrates.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.

1 GO annotations of molecular function

Name	Definition
molecular adaptor activity	The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.

9 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
positive regulation of aminoacyl-tRNA ligase activity	Any process that activates or increases the frequency, rate or extent of aminoacyl-tRNA ligase activity.
positive regulation of neuron death	Any process that activates or increases the frequency, rate or extent of neuron death.
positive regulation of protein ubiquitination	Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
protein-containing complex assembly	The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.
translation	The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome.
type II pneumocyte differentiation	The process in which a relatively unspecialized cell acquires specialized features of a type II pneumocyte. A type II pneumocyte is a surfactant secreting cell that contains abundant cytoplasm containing numerous lipid-rich multilamellar bodies.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MPMYQVKPYH	GGGAPLRVEL	PTCMYRLPNV	HGRSYGPAPG	AGHVQEESNL	SLQALESRQD
70	80	90	100	110	120
DILKRLYELK	AAVDGLSKMI	QTPDADLDVT	NIIQADEPTT	LTTNALDLNS	VLGKDYGALK
130	140	150	160	170	180
DIVINANPAS	PPLSLLVLHR	LLCEHFRVLS	TVHTHSSVKS	VPENLLKCFG	EQNKKQPRQD
190	200	210	220	230	240
YQLGFTLIWK	NVPKTQMKFS	IQTMCPIEGE	GNIARFLFSL	FGQKHNAVNA	TLIDSWVDIA
250	260	270	280	290	300
IFQLKEGSSK	EKAAVFRSMN	SALGKSPWLA	GNELTVADVV	LWSVLQQIGG	CSVTVPANVQ
310
RWMRSCENLA	PFNTALKLLK