AiPD: Autoinhibited Protein Database

Q5VV42

Gene name	CDKAL1
Protein name	Threonylcarbamoyladenosine tRNA methylthiotransferase
Names	CDK5 regulatory subunit-associated protein 1-like 1, tRNA-t(6)A37 methylthiotransferase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54901
EC number	2.8.4.5: Transferring alkylthio groups
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-90 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-90 (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 Q5VV42

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5VV42-F1	Predicted				AlphaFoldDB

401 variants for Q5VV42

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA363263634 rs1176800946	2	P>S		No	ClinGen TOPMed gnomAD
CA363263691 rs1356562841	7	D>N		No	ClinGen gnomAD
rs758224017 CA3652980	11	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA363263802 rs1307208266	15	D>N		No	ClinGen TOPMed
CA3652982 rs746982842	15	D>V		No	ClinGen ExAC gnomAD
CA3652984 rs199754503	16	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363263833 rs560146971	17	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560146971 CA3652985	17	V>M	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs770189474 CA3652986	18	S>F		No	ClinGen ExAC gnomAD
rs1192462433 CA363263855	19	Q>E		No	ClinGen gnomAD
rs1297671102 CA363263924	23	K>N		No	ClinGen TOPMed
rs775876071 CA3652987	23	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA3652989 rs769067735	27	R>K		No	ClinGen ExAC TOPMed gnomAD
CA135695226 rs769067735	27	R>M		No	ClinGen ExAC TOPMed gnomAD
rs369307384 CA3652990	30	V>L		No	ClinGen ESP ExAC gnomAD
CA3652991 rs762450486	32	K>N		No	ClinGen ExAC TOPMed gnomAD
rs767880713 CA3652992	33	D>E		No	ClinGen ExAC gnomAD
CA3652993 rs753394640	36	P>L		No	ClinGen ExAC TOPMed gnomAD
rs764690585 CA3652995	37	K>E		No	ClinGen ExAC
rs764690585 CA135695227	37	K>Q		No	ClinGen ExAC
CA3652996 rs752353687	37	K>R		No	ClinGen ExAC gnomAD
CA135695228 rs910932712	38	V>I		No	ClinGen TOPMed gnomAD
CA363264140 rs1274309706	39	R>*		No	ClinGen gnomAD
RCV000953224 CA3652997 rs111739077	39	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3652998 rs777679539	40	R>K		No	ClinGen ExAC
rs779801039 CA3652999	41	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3653001 rs145537300	41	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363264183 rs1485843331	42	N>S		No	ClinGen TOPMed gnomAD
rs780964660 CA3653002 CA363264238	45	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1289309302 CA363264248	46	Y>S		No	ClinGen gnomAD
rs1210597329 CA363264281	48	Q>R		No	ClinGen TOPMed
CA3653004 rs373486015	49	E>V		No	ClinGen ESP ExAC gnomAD
rs1376547766 CA363264329	52	N>K		No	ClinGen gnomAD
rs146527771 CA3653005	54	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs146527771 CA3653006	54	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs149117757 CA363264346	55	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3653007 rs149117757	55	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1419435683 CA363264350	56	S>N		No	ClinGen gnomAD
rs774821440 CA3653008	57	D>V		No	ClinGen ExAC gnomAD
rs762063007 CA3653009	58	S>G		No	ClinGen ExAC TOPMed gnomAD
CA363264364 rs1323217289	58	S>N		No	ClinGen gnomAD
CA363264673 rs755278281	61	P>L		No	ClinGen ExAC gnomAD
rs755278281 CA3653034	61	P>R		No	ClinGen ExAC gnomAD
rs1456981812 CA363264717	64	Q>*		No	ClinGen gnomAD
TCGA novel	64	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	66	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA135695434 rs755597687	69	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA363264816 rs1306798050	69	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3653035 rs200195852	70	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA363264825 rs1419978341	70	T>K		No	ClinGen gnomAD
CA3653036 rs377386894	72	G>C		No	ClinGen ESP ExAC gnomAD
rs772332509 COSM741026 CA3653037	75	H>Y	lung Variant assessed as Somatic; 0.0 impact. skin [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs202056788 CA3653038	76	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1366976735 CA363264878	77	N>D		No	ClinGen TOPMed
CA363264895 rs143106927	79	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs143106927 CA3653039	79	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1399638757 CA363264920	83	M>L		No	ClinGen gnomAD
CA363264921 rs1399638757	83	M>V		No	ClinGen gnomAD
rs775019317 CA3653041	84	A>T		No	ClinGen ExAC gnomAD
CA363264934 rs1329157051	85	G>R		No	ClinGen gnomAD
TCGA novel	91	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762343162 CA3653042	91	G>V		No	ClinGen ExAC gnomAD
CA3653043 rs763606963	92	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA917691142 rs1581707038	94	I>K		No	ClinGen Ensembl
rs1581707048 CA363264998	94	I>N		No	ClinGen Ensembl
rs1225849680 CA363265635	97	N>K		No	ClinGen gnomAD
CA363265636 rs1285160228	98	A>T		No	ClinGen gnomAD
rs1321382829 CA363265641	98	A>V		No	ClinGen TOPMed gnomAD
CA363265654 rs1469009556	100	D>G		No	ClinGen gnomAD
CA3653067 rs141464108	100	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1405261306 CA363265674	102	D>H		No	ClinGen TOPMed
TCGA novel	102	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3653071 rs753727516	106	L>P		No	ClinGen ExAC gnomAD
CA363265725 rs1422844122	107	N>H		No	ClinGen gnomAD
CA363265729 rs1162428971	107	N>T		No	ClinGen gnomAD
CA3653074 rs752821004	109	C>F		No	ClinGen ExAC gnomAD
rs765293669 CA3653073	109	C>G		No	ClinGen ExAC gnomAD
rs777946953 CA3653076	110	T>S		No	ClinGen ExAC gnomAD
rs1185802156 CA363265773	111	V>I		No	ClinGen TOPMed
TCGA novel rs1581893868 CA363265804	113	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen Ensembl
rs757645609 CA3653078	115	A>P		No	ClinGen ExAC gnomAD
rs757645609 CA363265820	115	A>T		No	ClinGen ExAC gnomAD
rs746374354 CA3653081	122	S>A		No	ClinGen ExAC gnomAD
CA363265905 rs1187563078	122	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3653080 rs746374354	122	S>T		No	ClinGen ExAC gnomAD
CA363266427 rs1257949571	125	K>E		No	ClinGen TOPMed
CA363266426 rs1257949571	125	K>Q		No	ClinGen TOPMed
CA363266441 rs1450777507	127	Q>*		No	ClinGen TOPMed gnomAD
CA363266453 rs1192548610	128	E>D		No	ClinGen gnomAD
rs374349042 CA3653105	128	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs970832904 CA135716559	129	E>K		No	ClinGen Ensembl
rs1376581180 CA363266471	131	K>E		No	ClinGen gnomAD
rs770614347 CA3653107	133	I>M		No	ClinGen ExAC TOPMed gnomAD
CA3653109 rs139954896	134	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1581482300 CA363266525	139	V>G		No	ClinGen Ensembl
rs1033857361 CA135716560	140	P>L		No	ClinGen TOPMed gnomAD
CA3653112 rs762807371	140	P>S		No	ClinGen ExAC gnomAD
CA3653113 rs764171876	145	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3653115 rs149431105 COSM266217	145	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3653114 rs149431105	145	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1581482363 CA363266568	146	Q>P		No	ClinGen Ensembl
CA3653119 rs766585618	147	D>G		No	ClinGen ExAC gnomAD
rs572119016 CA3653117	147	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572119016 CA3653118	147	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs183109995 CA3653120	148	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs183109995 CA363266579	148	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA135716562 rs943251339	149	L>F		No	ClinGen TOPMed gnomAD
rs943251339 CA363266584	149	L>V		No	ClinGen TOPMed gnomAD
CA135716563 rs961384074	150	K>E		No	ClinGen TOPMed
rs1457085579 CA363266590	150	K>T		No	ClinGen gnomAD
rs371654479 CA3653123	152	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3653124 rs756913034	154	I>V		No	ClinGen ExAC gnomAD
CA3653125 rs374122805	155	I>T		No	ClinGen ESP ExAC gnomAD
CA363266654 rs1188216906	157	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs186717283 CA135718754	158	Q>H		No	ClinGen Ensembl
rs367636141 CA3653158	158	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3653159 rs772208436	158	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1004809646 CA135718755	159	Q>P		No	ClinGen TOPMed
rs773152917 CA3653160	160	I>L		No	ClinGen ExAC gnomAD
rs1331961370 CA363266684	161	D>E		No	ClinGen TOPMed gnomAD
COSM595269 rs866091749 CA135718757	162	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3653161 rs761028078	162	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1480576396 CA363266693	163	V>A		No	ClinGen gnomAD
CA363266697 rs1194639558	164	V>L		No	ClinGen gnomAD
CA135718758 rs9465882	165	E>K		No	ClinGen Ensembl
rs144763683 CA3653184	174	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363267768 rs1259941667	175	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA363267786 rs1236736742	178	L>P		No	ClinGen TOPMed
TCGA novel	181	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363267804 rs1374733941	181	Q>H		No	ClinGen gnomAD
CA363267820 rs1373452743	183	K>N		No	ClinGen gnomAD
rs753502817 CA3653190	183	K>T		No	ClinGen ExAC gnomAD
rs1360583795 CA363267826	184	D>E		No	ClinGen gnomAD
rs1313187560 CA363267824	184	D>G		No	ClinGen gnomAD
CA3653191 rs754613790	184	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3653192 rs778748649	187	R>K		No	ClinGen ExAC gnomAD
TCGA novel	187	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3653193 rs752407516	188	R>Q		No	ClinGen ExAC gnomAD
rs1413614457 CA363267849	188	R>W		No	ClinGen TOPMed
CA363267872 rs1350571196	192	A>T		No	ClinGen gnomAD
rs1396261427 CA363267874	192	A>V		No	ClinGen TOPMed
CA3653198 rs781358578	193	R>*		No	ClinGen ExAC gnomAD
rs199728033 CA135721186	193	R>Q		No	ClinGen 1000Genomes gnomAD
rs770134062 CA3653200	195	D>Y		No	ClinGen ExAC gnomAD
rs368733380 CA3653201	197	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA363267900 rs1449985277	197	P>T		No	ClinGen gnomAD
rs774750731 CA3653204	199	I>M		No	ClinGen ExAC TOPMed gnomAD
CA3653203 rs769016538	199	I>V		No	ClinGen ExAC gnomAD
CA3653206 rs182169029	201	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363267939 rs1290084021	202	N>K		No	ClinGen gnomAD
rs903200940 CA135721187	204	L>R		No	ClinGen Ensembl
CA363267978 rs1175939594	208	I>M		No	ClinGen Ensembl
rs764777781 CA363267993	211	N>D		No	ClinGen ExAC gnomAD
rs752349153 CA3653210	211	N>S		No	ClinGen ExAC gnomAD
rs764777781 CA3653209	211	N>Y		No	ClinGen ExAC gnomAD
COSM1672261 rs1306496540 CA363268004	213	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	215	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	215	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3653236 rs143969595	216	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs755225142 CA3653237	217	A>T		No	ClinGen ExAC gnomAD
rs780144368 CA135728505	219	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA135728506 rs112984088	221	C>R		No	ClinGen Ensembl
TCGA novel	223	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1467343172 CA363267565	223	T>P		No	ClinGen TOPMed
rs1444832031 CA363267572	224	K>E		No	ClinGen gnomAD
rs1355100245 COSM1621246 CA363267587	226	A>T	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	227	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363267602 rs1295178680	228	G>*		No	ClinGen gnomAD
rs773743090 CA3653241	229	N>D		No	ClinGen ExAC gnomAD
CA363267609 rs1228813921	229	N>S		No	ClinGen gnomAD
rs747453960 CA3653242	231	A>S		No	ClinGen ExAC gnomAD
CA363267638 rs1554129984	233	Y>F		No	ClinGen Ensembl
rs769197136 CA3653243	235	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1252034408 CA363267656	236	D>A		No	ClinGen gnomAD
CA363267655 rs1370043914	236	D>N		No	ClinGen gnomAD
CA135728507 rs868012877	237	E>K		No	ClinGen Ensembl
rs1259006154 CA363267699	242	A>V		No	ClinGen gnomAD
rs1472845256 CA363267705	243	K>R		No	ClinGen gnomAD
CA363267713 rs1418020820	244	Q>P		No	ClinGen gnomAD
CA3653246 rs768321729	245	S>F		No	ClinGen ExAC gnomAD
CA3653261 rs747523212	248	E>D		No	ClinGen ExAC gnomAD
rs1581908137 CA363266778	249	G>D		No	ClinGen Ensembl
CA135740735 rs975051721	249	G>S		No	ClinGen Ensembl
CA135740736 rs773674927	250	V>I		No	ClinGen gnomAD
rs771460516 CA3653262	254	W>R		No	ClinGen ExAC gnomAD
CA363266827 rs1347100951	256	T>N		No	ClinGen TOPMed gnomAD
CA363266859 rs1298253889	260	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA135740737 rs1036922034	262	A>S		No	ClinGen TOPMed
CA363266896 rs1231837577	266	D>G		No	ClinGen gnomAD
rs774176433 CA3653266	267	I>M		No	ClinGen ExAC gnomAD
rs1442567979 CA363266903	267	I>T		No	ClinGen TOPMed
rs767999552 CA3653265	267	I>V		No	ClinGen ExAC gnomAD
CA3653267 rs200719734	270	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3653268 rs200719734	270	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs955184595 CA135740738	271	L>F		No	ClinGen gnomAD
rs572092235 CA3653269	272	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA135740739 rs987035728	273	T>I		No	ClinGen TOPMed
CA363266983 rs1399455585	280	E>D		No	ClinGen TOPMed
CA3653276 rs752934075	286	A>V		No	ClinGen ExAC gnomAD
rs778174183 CA3653278	289	R>K		No	ClinGen ExAC
TCGA novel	289	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	292	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751918068 COSM741023 CA3653279	293	T>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA363267082 COSM1076429 rs1393684808	295	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3653283 rs150177925	297	Y>C		No	ClinGen ESP ExAC gnomAD
rs747876632 CA3653285	298	I>L		No	ClinGen ExAC gnomAD
rs1330533324 CA363267122	301	H>L		No	ClinGen gnomAD
CA363267152 rs1481155729	304	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA363267171 rs1292106571	306	A>E		No	ClinGen gnomAD
CA135745821 rs1027656765	306	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs763198996 CA3653298	308	I>N		No	ClinGen ExAC gnomAD
rs1266563738 CA363267189	309	L>V		No	ClinGen gnomAD
CA363267211 rs1254467693	312	P>T		No	ClinGen gnomAD
rs368097465 CA363267236	315	Y>*		No	ClinGen ESP ExAC gnomAD
rs1181710496 CA363267238	316	A>T		No	ClinGen TOPMed gnomAD
rs1254515277 CA363267254	318	L>Q		No	ClinGen TOPMed gnomAD
CA135745823 rs767441793	320	I>T		No	ClinGen Ensembl
rs1241478242 CA363267276	321	P>L		No	ClinGen TOPMed
CA363267273 rs1312129425	321	P>T		No	ClinGen TOPMed
rs751681387 CA3653301	323	Q>*		No	ClinGen ExAC gnomAD
rs757669623 CA3653302	323	Q>R		No	ClinGen ExAC gnomAD
rs767706530 CA3653303	324	S>A		No	ClinGen ExAC gnomAD
rs1369009971 CA363267295	325	A>P		No	ClinGen gnomAD
rs747640109 CA3653307	327	D>N		No	ClinGen ExAC TOPMed gnomAD
rs373753580 CA3653308	328	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3653310 rs145084016	329	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3653311 rs145084016	329	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	332	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776280652 CA3653312	332	E>Q		No	ClinGen ExAC gnomAD
rs745867607 CA3653314	333	M>L		No	ClinGen ExAC gnomAD
CA3653313 rs745867607	333	M>V		No	ClinGen ExAC gnomAD
rs775592397 CA3653315	335	R>G		No	ClinGen ExAC gnomAD
TCGA novel	336	E>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363267379 rs1225941112	337	Y>C		No	ClinGen gnomAD
rs1343403736 CA363267393	339	V>L		No	ClinGen gnomAD
TCGA novel	340	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1210353590 CA363267397	340	A>S		No	ClinGen gnomAD
rs1478568931 CA363267401	340	A>V		No	ClinGen TOPMed
rs1362511352 CA363267418	342	F>L		No	ClinGen TOPMed
rs1470467672 CA363267487	352	K>R		No	ClinGen TOPMed
rs1363795590 CA363268035	354	P>R		No	ClinGen gnomAD
rs1562001491 CA363268040	355	G>E		No	ClinGen Ensembl
CA363268057 rs1206681417	358	I>F		No	ClinGen gnomAD
rs1206681417 CA363268058	358	I>V		No	ClinGen gnomAD
rs756851756 CA3653329	360	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1022424482 CA135752716	363	I>L		No	ClinGen TOPMed gnomAD
CA3653333 rs780000266	364	C>Y		No	ClinGen ExAC gnomAD
TCGA novel	367	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	367	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372282978 CA3653334	368	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA363268126 rs372282978	368	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA363268131 rs1582127254	369	E>G		No	ClinGen Ensembl
CA3653335 rs768795971	370	T>A		No	ClinGen ExAC gnomAD
rs762162158 CA3653337	372	Q>R		No	ClinGen ExAC gnomAD
CA363268180 rs1161057779	376	E>Q		No	ClinGen TOPMed
CA363268193 rs1324271849	378	V>M		No	ClinGen gnomAD
CA135752717 rs1013310808	379	K>E		No	ClinGen gnomAD
CA363268199 rs1013310808	379	K>Q		No	ClinGen gnomAD
rs148884623 CA3653342	382	E>A		No	ClinGen ESP ExAC
CA3653341 rs773518478	382	E>K		No	ClinGen ExAC gnomAD
CA3653343 rs766780796	385	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA363268251 rs1582127376	386	F>S		No	ClinGen Ensembl
CA363268264 rs1562001666	388	S>N		No	ClinGen Ensembl
TCGA novel	389	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376793387 CA135752719	390	F>S		No	ClinGen ESP
rs4710963 CA135752720	397	R>S		No	ClinGen Ensembl
rs1562001712 CA363268345	400	T>A		No	ClinGen Ensembl
CA363268354 rs1191353538	401	P>L		No	ClinGen gnomAD
CA3653346 rs770105916	401	P>S		No	ClinGen ExAC TOPMed gnomAD
CA135752721 rs534619575	406	E>G		No	ClinGen TOPMed
CA363268391 rs1582127500	407	Q>*		No	ClinGen Ensembl
rs77152992 CA3653347	409	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363268408 rs77152992	409	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs77152992 CA135752722	409	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363268416 rs1412129241	411	Q>E		No	ClinGen gnomAD
CA135757114 rs1002529216	414	K>M		No	ClinGen Ensembl
TCGA novel	414	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363268482 rs1228864617	418	K>I		No	ClinGen gnomAD
rs766230504 CA3653375	420	L>F		No	ClinGen ExAC TOPMed
CA3653376 rs753599463	422	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs767890331 CA135757115	422	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA363268511 rs1206773721	423	V>A		No	ClinGen gnomAD
TCGA novel	426	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363268529 rs1336466471	426	S>T		No	ClinGen TOPMed
CA363268545 rs1413245212	428	S>C		No	ClinGen TOPMed
CA135757116 rs868446164	429	P>L		No	ClinGen Ensembl
CA3653400 rs757367503	435	G>D		No	ClinGen ExAC gnomAD
rs1189575836 CA363268621	436	E>K		No	ClinGen gnomAD
rs1562109699 CA363268639	438	Q>P		No	ClinGen Ensembl
TCGA novel	439	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	440	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363268665 rs1191533110	442	V>I		No	ClinGen TOPMed
TCGA novel	447	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1319747929 CA363268708	448	D>Y		No	ClinGen gnomAD
rs1386325489 CA363268726	450	K>R		No	ClinGen TOPMed gnomAD
CA3653406 rs553804984 RCV000887785	452	Y>F		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1033341540 CA135766733	453	V>A		No	ClinGen TOPMed
CA3653407 rs769122282	456	N>S		No	ClinGen ExAC gnomAD
rs374932945 CA3653408	459	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1482845338 CA363268823	462	V>L		No	ClinGen gnomAD
rs1038480426 CA135767051	464	V>E		No	ClinGen TOPMed
CA363268842 rs1482638468	465	P>S		No	ClinGen TOPMed
rs981283063 CA135767052	466	K>E		No	ClinGen Ensembl
rs879019413 CA135767053	467	N>K		No	ClinGen Ensembl
CA135767054 rs919189408	468	P>R		No	ClinGen TOPMed gnomAD
CA3653425 rs779397200	469	A>V		No	ClinGen ExAC TOPMed gnomAD
rs929221384 CA135767055	470	F>C		No	ClinGen Ensembl
rs748595433 CA3653426	470	F>L		No	ClinGen ExAC TOPMed gnomAD
CA3653427 rs770484425 CA363268876	471	M>L		No	ClinGen ExAC TOPMed gnomAD
CA363268887 rs1367852676	472	G>E		No	ClinGen gnomAD
rs982778389 CA135767056	473	K>E		No	ClinGen TOPMed gnomAD
rs776197771 CA3653428	478	D>Y		No	ClinGen ExAC gnomAD
CA363268944 rs1428696004	480	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs769462123 CA3653430	482	S>*		No	ClinGen ExAC gnomAD
CA3653431 rs774953052	483	G>V		No	ClinGen ExAC gnomAD
CA3653432 rs9460608 VAR_052705	484	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs763919026 CA3653433	485	H>Y		No	ClinGen ExAC gnomAD
rs751558817 CA3653434	487	M>L		No	ClinGen ExAC TOPMed gnomAD
rs751558817 CA363268989	487	M>V		No	ClinGen ExAC TOPMed gnomAD
rs761832421 CA3653436	489	G>A		No	ClinGen ExAC gnomAD
CA3653435 rs761832421	489	G>V		No	ClinGen ExAC gnomAD
rs1301219314 CA363269011	490	Q>P		No	ClinGen TOPMed
rs377523274 CA3653438	491	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs753991795 CA3653440	493	S>T		No	ClinGen ExAC gnomAD
CA3653441 rs755348667	494	D>H		No	ClinGen ExAC gnomAD
CA363269043 rs1199913455	495	A>G		No	ClinGen gnomAD
TCGA novel	495	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1199913455 CA363269044	495	A>V		No	ClinGen gnomAD
CA363269063 rs1407429904	498	Y>C		No	ClinGen TOPMed
CA3653442 rs146421036	499	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780613027 CA3653445	500	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3653446 rs369446835	501	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs373139963 CA3653447	505	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1206805399 CA363269113	506	L>P		No	ClinGen TOPMed
CA135767059 rs370612680	507	A>T		No	ClinGen TOPMed gnomAD
CA363269135 rs1398236612	510	E>*		No	ClinGen gnomAD
CA363269134 rs1398236612	510	E>K		No	ClinGen gnomAD
CA3653451 rs774285114	511	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3653452 COSM1076435 rs761883828	512	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1340043117 CA363269149	512	S>P		No	ClinGen TOPMed
rs760812711 CA3653455	515	T>I		No	ClinGen ExAC gnomAD
CA363269177 rs1433618883	516	K>N		No	ClinGen TOPMed
rs1320463778 CA363269171	516	K>Q		No	ClinGen TOPMed
CA363269175 rs1343115796	516	K>R		No	ClinGen gnomAD
CA363269888 rs1434589983	520	N>D		No	ClinGen gnomAD
CA3653477 rs552051372	520	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1456105226 CA363269901	521	G>R		No	ClinGen gnomAD
CA135770409 rs895028872	522	L>P		No	ClinGen Ensembl
CA135770410 rs1012884208	523	G>E		No	ClinGen Ensembl
CA3653479 rs776660547 COSM1076436 COSM1311844	523	G>R	Variant assessed as Somatic; 0.0 impact. endometrium urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs747093009 CA3653480	524	N>D		No	ClinGen ExAC TOPMed gnomAD
CA3653481 rs765464864	524	N>S		No	ClinGen ExAC gnomAD
rs372260983 CA363269966 CA3653483	525	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3653482 rs140511988	525	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363269989 rs1162014264	527	S>I		No	ClinGen TOPMed gnomAD
rs1242349835 CA363269980	527	S>R		No	ClinGen TOPMed
rs1002899709 CA135770412	532	T>A		No	ClinGen Ensembl
CA3653484 rs764312240	532	T>N		No	ClinGen ExAC TOPMed gnomAD
CA363270066 rs1562135423	534	A>T		No	ClinGen Ensembl
TCGA novel	534	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3653485 rs752169064	535	A>T		No	ClinGen ExAC TOPMed gnomAD
rs757703638 CA3653486	537	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA363270102 rs1220521448	537	Q>R		No	ClinGen gnomAD
rs748786790 CA3653488	541	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1471329075 CA363270198	544	R>K		No	ClinGen gnomAD
CA3653490 rs573429286	545	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA363270228 rs1409389815	546	V>A		No	ClinGen gnomAD
rs950313374 CA135770413	548	P>S		No	ClinGen TOPMed gnomAD
CA363270263 rs1006352134 CA135770414	549	M>I		No	ClinGen TOPMed
CA363270298 rs1352039482	553	H>P		No	ClinGen TOPMed gnomAD
CA3653491 rs747696463	553	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	554	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3653492 rs771959285	554	Q>E		No	ClinGen ExAC gnomAD
CA135770415 rs80221577	555	D>A		No	ClinGen Ensembl
rs74874333 CA135770416	556	C>F		No	ClinGen TOPMed gnomAD
CA3653493 rs772877073	556	C>R		No	ClinGen ExAC gnomAD
rs74874333 CA363270344	556	C>S		No	ClinGen TOPMed gnomAD
COSM1200582 CA3653494 rs747005469	557	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs906193232 CA135770418	560	M>I		No	ClinGen TOPMed
CA363270403 rs1562135570	561	S>A		No	ClinGen Ensembl
rs142991131 CA135770419	561	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3653496 rs142991131	561	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
COSM182999 CA3653498 rs769795415	562	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	563	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1358337756 CA363270419	563	G>R		No	ClinGen TOPMed
CA3653502 rs751842901	565	A>T		No	ClinGen ExAC gnomAD
rs768163638 CA363270465	567	L>V		No	ClinGen ExAC TOPMed gnomAD
rs754541092 CA3653506	569	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1562135669 CA363270500	570	L>F		No	ClinGen Ensembl
TCGA novel	572	A>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363270532 rs1183809066	572	A>V		No	ClinGen gnomAD
CA363270553 rs1168155764	574	F>L		No	ClinGen gnomAD
TCGA novel	574	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3653510 rs752461354	575	V>G		No	ClinGen ExAC gnomAD
CA363270574 rs1329610766	576	K>E		No	ClinGen TOPMed gnomAD
rs1447117840 CA363270583	576	K>N		No	ClinGen gnomAD
rs1358727575 CA363270578	576	K>T		No	ClinGen gnomAD
CA363270587 rs1301023238	577	V>I		No	ClinGen gnomAD
rs368863003 CA3653511	578	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748943336 CA135770420	580	N>W		No	ClinGen Ensembl
TCGA novel	580	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

1 associated diseases with Q5VV42

[MIM: 125853]: Diabetes mellitus, non-insulin-dependent (NIDDM)

A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:17460697, ECO:0000269|PubMed:17463246}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Without disease ID

A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:17460697, ECO:0000269|PubMed:17463246}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

5 regional properties for Q5VV42

Type	Name	Position	InterPro Accession
domain	TRAM domain	431 - 493	IPR002792
domain	Elp3/MiaA/NifB-like, radical SAM core domain	203 - 422	IPR006638
domain	Radical SAM	64 - 493	IPR007197
domain	Methylthiotransferase, N-terminal	64 - 172	IPR013848
conserved_site	Methylthiotransferase, conserved site	208 - 228	IPR020612

Functions

		Description
EC Number	2.8.4.5	Transferring alkylthio groups
Subcellular Localization	Endoplasmic reticulum membrane ; Single-pass membrane protein	Is a tail-anchored protein that exploits the TCR40 pathway for insertion into the endoplasmic reticulum
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
rough endoplasmic reticulum	The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae.

4 GO annotations of molecular function

Name	Definition
4 iron, 4 sulfur cluster binding	Binding to a 4 iron, 4 sulfur (4Fe-4S) cluster; this cluster consists of four iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands.
metal ion binding	Binding to a metal ion.
N6-threonylcarbomyladenosine methylthiotransferase activity	Catalysis of the methylthiolation (-SCH3 addition) at the C2 of the adenosine ring of N6-threonylcarbomyladenosine (t6A) in tRNA, to form 2-methylthio-N6-threonylcarbamoyladenosine (ms2t6A).
tRNA (N(6)-L-threonylcarbamoyladenosine(37)-C(2))-methylthiotransferase	Catalysis of the reaction: N(6)-L-threonylcarbamoyladenine(37) in tRNA + sulfur-(sulfur carrier) + 2 S-adenosyl-L-methionine = 2-methylthio-N(6)-L-threonylcarbamoyladenine(37) in tRNA + S-adenosyl-L-homocysteine + (sulfur carrier) + L-methionine + 5'-deoxyadenosine.

2 GO annotations of biological process

Name	Definition
maintenance of translational fidelity	Suppression of the occurrence of translational errors, such as codon-anticodon mis-paring, during the process of translation of a protein using an mRNA template.
tRNA methylthiolation	The addition of a methylthioether group (-SCH3) to a nucleotide in a tRNA molecule.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q7K4W1	CG6550	Threonylcarbamoyladenosine tRNA methylthiotransferase	Drosophila melanogaster (Fruit fly)	PR
Q91WE6	Cdkal1	Threonylcarbamoyladenosine tRNA methylthiotransferase	Mus musculus (Mouse)	PR
Q6P4Y0	cdkal1	Threonylcarbamoyladenosine tRNA methylthiotransferase	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q6PG34	cdkal1	Threonylcarbamoyladenosine tRNA methylthiotransferase	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MPSASCDTLL	DDIEDIVSQE	DSKPQDRHFV	RKDVVPKVRR	RNTQKYLQEE	ENSPPSDSTI
70	80	90	100	110	120
PGIQKIWIRT	WGCSHNNSDG	EYMAGQLAAY	GYKITENASD	ADLWLLNSCT	VKNPAEDHFR
130	140	150	160	170	180
NSIKKAQEEN	KKIVLAGCVP	QAQPRQDYLK	GLSIIGVQQI	DRVVEVVEET	IKGHSVRLLG
190	200	210	220	230	240
QKKDNGRRLG	GARLDLPKIR	KNPLIEIISI	NTGCLNACTY	CKTKHARGNL	ASYPIDELVD
250	260	270	280	290	300
RAKQSFQEGV	CEIWLTSEDT	GAYGRDIGTN	LPTLLWKLVE	VIPEGAMLRL	GMTNPPYILE
310	320	330	340	350	360
HLEEMAKILN	HPRVYAFLHI	PVQSASDSVL	MEMKREYCVA	DFKRVVDFLK	EKVPGITIAT
370	380	390	400	410	420
DIICGFPGET	DQDFQETVKL	VEEYKFPSLF	INQFYPRPGT	PAAKMEQVPA	QVKKQRTKDL
430	440	450	460	470	480
SRVFHSYSPY	DHKIGERQQV	LVTEESFDSK	FYVAHNQFYE	QVLVPKNPAF	MGKMVEVDIY
490	500	510	520	530	540
ESGKHFMKGQ	PVSDAKVYTP	SISKPLAKGE	VSGLTKDFRN	GLGNQLSSGS	HTSAASQCDS
550	560	570
ASSRMVLPMP	RLHQDCALRM	SVGLALLGLL	FAFFVKVYN