AiPD: Autoinhibited Protein Database

Q9H3H1

Gene name	TRIT1 (IPT, MOD5)
Protein name	tRNA dimethylallyltransferase
Names	Isopentenyl-diphosphate:tRNA isopentenyltransferase, IPP transferase, IPPT, hGRO1, tRNA isopentenyltransferase 1, IPTase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54802
EC number	2.5.1.75: Transferring alkyl or aryl groups, other than methyl groups
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-49 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-49 (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 Q9H3H1

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H3H1-F1	Predicted				AlphaFoldDB

392 variants for Q9H3H1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001796068 CA788227 rs184469579 RCV002526505 RCV000584740 RCV000477658	8	R>*	TRIT1 Deficiency Inborn genetic diseases Combined oxidative phosphorylation deficiency 35 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_080745	8	R>del	COXPD35 [UniProt]	Yes	UniProt
RCV002546428 rs766087007 RCV001330964 CA788152	97	D>N	Combined oxidative phosphorylation deficiency 35 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000656420 rs146838322 RCV002289945 RCV001266205 CA788130	109	I>T	Inborn genetic diseases Macrocephaly [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001824154 RCV002252196 RCV001726297 rs536000212 RCV000656419	112	R>missing	TRIT1 Deficiency [ClinVar]	Yes	ClinVar dbSNP
VAR_080746 rs199622789 CA787986 RCV002285336 RCV000477657 RCV000584739	283	I>S	TRIT1 Deficiency Combined oxidative phosphorylation deficiency 35 COXPD35; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000584735 VAR_080747 rs1060505019 CA16616851 RCV000477660	286	K>E	TRIT1 Deficiency Combined oxidative phosphorylation deficiency 35 COXPD35; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1047420796 VAR_080748 RCV000623099 CA20969799 RCV000584728	323	R>Q	Inborn genetic diseases Combined oxidative phosphorylation deficiency 35 COXPD35; reduced tRNA dimethylallyltransferase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs144042123 RCV001262260 RCV002524076 RCV001266204 CA787951	327	R>*	Inborn genetic diseases Combined oxidative phosphorylation deficiency 35 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000584729 RCV000477659 CA787882 rs367752391 RCV001755719	402	R>*	Variant assessed as Somatic; 0.0 impact. TRIT1 Deficiency Combined oxidative phosphorylation deficiency 35 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_080749	402	R>del	COXPD35; unknown pathological significance [UniProt]	Yes	UniProt
RCV001336380 CA787879 rs776537579	405	I>T	Combined oxidative phosphorylation deficiency 35 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA787875 VAR_085917 rs764506732	409	E>K	Variant assessed as Somatic; 0.0 impact. COXPD35; unknown pathological significance [NCI-TCGA, UniProt]	Yes	ClinGen UniProt ExAC NCI-TCGA dbSNP gnomAD
RCV000477661 rs566435653 RCV000584734 CA787851 VAR_080750	419	H>P	TRIT1 Deficiency Combined oxidative phosphorylation deficiency 35 COXPD35; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs767658848 CA788235	2	A>V		No	ClinGen ExAC gnomAD
rs202197910 CA20988112	3	S>T		No	ClinGen Ensembl
CA20988091 rs892857228	3	S>Y		No	ClinGen TOPMed
rs1288284071 CA339842521	4	V>A		No	ClinGen TOPMed
CA20988071 rs913432463	4	V>M		No	ClinGen Ensembl
rs766933115 CA339842515	5	A>G		No	ClinGen ExAC TOPMed gnomAD
rs766933115 CA788232	5	A>V		No	ClinGen ExAC TOPMed gnomAD
CA339842514 rs138415849	6	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138415849 CA788230	6	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1244022424 CA339842504	7	A>V		No	ClinGen gnomAD
CA20988017 rs184469579	8	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771619860 CA788226	8	R>L		No	ClinGen ExAC TOPMed gnomAD
rs771619860 CA339842502	8	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs745312683 CA788225	9	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1181305035 CA339842501	9	A>T		No	ClinGen TOPMed
CA339842497 rs745312683	9	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1387649757 CA339842496	10	V>I		No	ClinGen gnomAD
CA339842488 rs1457895874	11	P>H		No	ClinGen gnomAD
rs757185315 CA788223	11	P>S		No	ClinGen ExAC gnomAD
CA20987965 rs1012807693	12	V>A		No	ClinGen TOPMed gnomAD
rs1012807693 CA339842483	12	V>E		No	ClinGen TOPMed gnomAD
rs777523310 CA339842484 CA788221	12	V>L		No	ClinGen ExAC TOPMed
rs1423123833 CA339842481	13	G>C		No	ClinGen TOPMed gnomAD
rs1423123833 CA339842480	13	G>R		No	ClinGen TOPMed gnomAD
rs894415261 CA20987942	15	G>R		No	ClinGen TOPMed gnomAD
CA788219 rs752994874	16	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	17	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767569325 CA788218	17	R>S		No	ClinGen ExAC TOPMed gnomAD
CA339842448 rs146989823	18	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA788217 rs146989823	18	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	19	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751577221 CA788216	19	L>P		No	ClinGen ExAC gnomAD
rs1316814581 CA339842440	20	Q>*		No	ClinGen gnomAD
CA339842442 rs1316814581	20	Q>K		No	ClinGen gnomAD
rs1270384394 CA339842432	21	R>Q		No	ClinGen TOPMed gnomAD
CA20987874 rs908628191	22	T>A		No	ClinGen TOPMed gnomAD
CA788214 rs192151286	22	T>N		No	ClinGen 1000Genomes ExAC gnomAD
CA788215 rs192151286	22	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1328545531 CA339842416	24	P>L		No	ClinGen TOPMed gnomAD
rs1328545531 COSM1172144 CA339842417	24	P>R	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs765715282 CA339842414	25	L>F		No	ClinGen ExAC TOPMed gnomAD
CA788212 rs765715282	25	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1227695062 CA339842394	28	I>T		No	ClinGen Ensembl
rs1168705777 CA339842397	28	I>V		No	ClinGen gnomAD
rs1557596252 CA339842368	32	T>M		No	ClinGen Ensembl
rs1484229217 CA339842361	34	T>P		No	ClinGen TOPMed
CA788207 rs773822501	36	K>R		No	ClinGen ExAC TOPMed gnomAD
CA20987811 rs773822501	36	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1392288212 CA339842341	37	S>A		No	ClinGen TOPMed
CA339842342 rs1392288212	37	S>P		No	ClinGen TOPMed
CA788203 rs769635884	45	Q>H		No	ClinGen ExAC gnomAD
rs1197052621 CA339842286	46	R>Q		No	ClinGen gnomAD
rs747839263 CA788202	46	R>W		No	ClinGen ExAC gnomAD
rs577519911 CA20987800	47	L>F		No	ClinGen TOPMed gnomAD
rs975835762 CA20987789	48	G>D		No	ClinGen TOPMed gnomAD
rs1557596070 CA339842276	48	G>S		No	ClinGen Ensembl
CA20987787 rs143304108	49	G>S		No	ClinGen ESP TOPMed
CA788199 rs372784365	50	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755148703 CA788200	50	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1445296827 CA339842254	52	V>I		No	ClinGen gnomAD
TCGA novel	54	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339842224 rs1335231074	56	S>C		No	ClinGen gnomAD
rs1335231074 CA339842222	56	S>F		No	ClinGen gnomAD
rs780256522 CA788198	57	M>I		No	ClinGen ExAC gnomAD
rs1278795285 CA339842221	57	M>V		No	ClinGen TOPMed
rs754280404 CA788174	59	V>I		No	ClinGen ExAC TOPMed gnomAD
CA788173 rs764390031	60	Y>C		No	ClinGen ExAC
rs918988197 CA20973288	61	E>D		No	ClinGen TOPMed gnomAD
CA339840200 rs373891890	62	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA788172 rs373891890	62	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA20973270 rs57584582	64	D>N		No	ClinGen Ensembl
rs1417092731 CA339840185	65	I>L		No	ClinGen TOPMed gnomAD
CA339840186 rs1417092731	65	I>V		No	ClinGen TOPMed gnomAD
CA788171 rs200242089	66	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA339840167 rs1452006093	68	N>H		No	ClinGen gnomAD
rs1406242640 CA339840155	69	K>R		No	ClinGen TOPMed
CA20973264 rs965726994	70	V>I		No	ClinGen TOPMed
CA339840097 rs1368891946	75	Q>E		No	ClinGen TOPMed
rs772703060 CA788167	75	Q>R		No	ClinGen ExAC gnomAD
CA788165 rs761631586	77	I>V		No	ClinGen ExAC gnomAD
rs776580057 CA788164	78	C>Y		No	ClinGen ExAC gnomAD
rs35273801 CA788162	79	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs35273801 CA788163	79	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA339840028 rs1557552383	79	R>W		No	ClinGen Ensembl
rs772422707 CA788160	82	M>I		No	ClinGen ExAC gnomAD
CA788161 rs775916635	82	M>L		No	ClinGen ExAC gnomAD
CA339839994 rs775916635	82	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs144463028 CA20973243	83	I>L		No	ClinGen ESP TOPMed gnomAD
rs199602634 CA788159	83	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA788158 rs778839213	84	S>R		No	ClinGen ExAC gnomAD
CA788157 rs757312002	85	F>S		No	ClinGen ExAC gnomAD
rs1393585931 CA339839874	89	L>F		No	ClinGen gnomAD
rs1357487412 CA339839854	90	V>L		No	ClinGen TOPMed
CA788156 rs749792896	91	T>N		No	ClinGen ExAC gnomAD
CA339839833 rs749792896	91	T>S		No	ClinGen ExAC gnomAD
CA788155 rs778275776	92	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1397586060 CA522403684	93	Y>*		No	ClinGen TOPMed gnomAD
CA339839799 rs1557552241	93	Y>N		No	ClinGen Ensembl
rs753046358 CA788153	96	V>M		No	ClinGen ExAC gnomAD
CA339839727 rs1396986809	97	D>A		No	ClinGen TOPMed gnomAD
TCGA novel	97	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA788151 rs758013241	99	R>K		No	ClinGen ExAC gnomAD
rs201122535 CA788150	101	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA788149 rs764671856	102	A>V		No	ClinGen ExAC gnomAD
rs562131479 CA788148	104	A>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	104	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1336139801 CA339838335	106	I>L		No	ClinGen TOPMed
rs1006629352 CA20972347	106	I>T		No	ClinGen gnomAD
CA788131 rs750071570	109	I>V		No	ClinGen ExAC gnomAD
CA339838224 rs955238010	111	A>S		No	ClinGen TOPMed gnomAD
CA20972337 rs955238010	111	A>T		No	ClinGen TOPMed gnomAD
COSM218445 rs756728965 CA788129	112	R>*	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA339838203 rs756728965	112	R>G		No	ClinGen ExAC TOPMed gnomAD
rs753387478 CA788128	112	R>Q		No	ClinGen ExAC TOPMed
rs760669230 CA788125	117	I>L		No	ClinGen ExAC TOPMed gnomAD
CA788126 rs760669230 COSM681412	117	I>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs866694653 CA20972323	118	V>I		No	ClinGen TOPMed
rs775522279 CA788124	119	V>E		No	ClinGen ExAC gnomAD
CA339838055 rs1248100417	120	G>R		No	ClinGen TOPMed
rs139911950 CA20972319	122	T>A		No	ClinGen ESP TOPMed gnomAD
rs767452261 CA788123	123	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1389325740 CA339837979	124	Y>C		No	ClinGen TOPMed
rs759309893 CA788122	126	I>T		No	ClinGen ExAC gnomAD
TCGA novel	127	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1478209436 CA339837943	127	E>K		No	ClinGen TOPMed
CA339837855 rs1557547446	132	K>N		No	ClinGen Ensembl
rs771172186 CA788120	134	L>F		No	ClinGen ExAC gnomAD
CA339837834 rs1485431936	134	L>H		No	ClinGen gnomAD
rs1437996161 CA339837827	135	V>L		No	ClinGen TOPMed gnomAD
rs1484799583 CA339837781	138	K>E		No	ClinGen gnomAD
rs532890424 CA788098	140	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
CA788097 rs769188667	141	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1222411250 CA339837658	141	E>Q		No	ClinGen TOPMed
CA788096 rs564254980	142	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780447959 CA788095	143	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1430106590 COSM1470220 CA339837610	144	T>S	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA788093 rs749004054	148	I>V		No	ClinGen ExAC TOPMed gnomAD
RCV003071891 rs1030596307	150	R>*		No	ClinVar dbSNP
CA20971758 rs1030596307	150	R>G		No	ClinGen TOPMed
COSM174011 rs777502421 CA788092	150	R>Q	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA788091 rs755701105	151	K>*		No	ClinGen ExAC gnomAD
CA788090 rs752241782	153	E>K		No	ClinGen ExAC TOPMed gnomAD
CA339837471 rs1338302388	154	L>F		No	ClinGen gnomAD
CA339837450 rs1251559346	155	E>D		No	ClinGen gnomAD
CA788089 rs576614665	156	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1344808917 CA339837427	157	E>Q		No	ClinGen gnomAD
rs1301876580 CA339837389	159	G>D		No	ClinGen gnomAD
rs1557545055 CA339837376	160	L>P		No	ClinGen Ensembl
CA339837372 rs1479561866	161	V>I		No	ClinGen TOPMed
rs1479561866 CA339837370	161	V>L		No	ClinGen TOPMed
CA788088 rs754911817	164	K>*		No	ClinGen ExAC gnomAD
rs751360090 CA788087	164	K>I		No	ClinGen ExAC gnomAD
CA788086 rs766217798	165	R>C		No	ClinGen ExAC TOPMed gnomAD
rs762614486 CA788085	165	R>H		No	ClinGen ExAC gnomAD
CA20971746 rs1042721281	168	Q>R		No	ClinGen Ensembl
rs765383080 CA788083	169	V>E		No	ClinGen ExAC gnomAD
rs148601848 CA20971743	169	V>L		No	ClinGen ESP TOPMed gnomAD
rs148601848 CA20971744	169	V>M		No	ClinGen ESP TOPMed gnomAD
CA339837254 rs1471451291	171	P>L		No	ClinGen TOPMed
rs1157277553 CA339837220	173	M>I		No	ClinGen TOPMed
CA339837232 rs1393110135	173	M>V		No	ClinGen gnomAD
rs761935152 COSM909353 CA788082	175	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA788081 rs542925891	176	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA339837187 rs1454610378	176	K>T		No	ClinGen gnomAD
rs1406364180 CA339837158	178	H>L		No	ClinGen TOPMed
CA788079 rs200061848	180	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1250754198 CA339837087	183	R>C		No	ClinGen gnomAD
CA788078 rs775824065	183	R>H		No	ClinGen ExAC TOPMed gnomAD
CA788077 rs772491805	184	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1006668948 CA20971726	186	A>D		No	ClinGen TOPMed
TCGA novel	187	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1350024642 CA339836809	188	S>C		No	ClinGen gnomAD
CA20970867 rs754723493	188	S>R		No	ClinGen Ensembl
CA339836800 rs1159519668	189	L>W		No	ClinGen TOPMed
CA20970858 rs963741935	193	E>D		No	ClinGen Ensembl
TCGA novel	194	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA788055 rs767897226	194	E>D		No	ClinGen ExAC TOPMed gnomAD
CA20970853 rs931795492	195	T>R		No	ClinGen TOPMed
CA20970846 rs1016215242	197	I>V		No	ClinGen TOPMed gnomAD
rs760045849 CA788054	199	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752192261 CA20970808	201	E>Q		No	ClinGen TOPMed gnomAD
RCV002091855 CA788053 rs3738671 VAR_020486	202	F>L		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	203	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370306541 CA788052	205	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs57069259 CA788051	205	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA788050 rs57069259	205	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA339836679 rs1188266589	207	H>R		No	ClinGen gnomAD
RCV000954840 CA788049 rs34889376	208	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA339836651 rs1207948812	211	G>D		No	ClinGen TOPMed
rs1440134961 CA339836647	212	G>C		No	ClinGen TOPMed
CA788046 rs758324281	213	G>C		No	ClinGen ExAC gnomAD
TCGA novel	213	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745699807 CA788045	214	P>S		No	ClinGen ExAC gnomAD
rs1210650759 CA339836601	220	K>R		No	ClinGen gnomAD
TCGA novel	221	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	221	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757007956 CA788043	223	N>K		No	ClinGen ExAC gnomAD
CA339836566 rs1382475178	225	C>Y		No	ClinGen TOPMed
rs1234194882 CA339836545	228	W>*		No	ClinGen gnomAD
rs754067608 CA788042	231	A>V		No	ClinGen ExAC gnomAD
CA788041 rs764167523	233	Q>K		No	ClinGen ExAC
CA788040 rs756275548	234	A>T		No	ClinGen ExAC gnomAD
rs376976423 CA20970773	235	V>I		No	ClinGen ESP TOPMed gnomAD
CA788021 rs752872268	237	D>E		No	ClinGen ExAC gnomAD
rs140406438 CA788020	239	R>C	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs145359484 CA788019	239	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs752116890 CA788018	244	V>A		No	ClinGen ExAC gnomAD
rs1231362103 CA339835407	244	V>L		No	ClinGen gnomAD
CA339835337 rs1231812137	246	D>G		No	ClinGen gnomAD
TCGA novel	246	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750744539 CA788015	247	M>V		No	ClinGen ExAC gnomAD
rs539069256 CA788014	250	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA788013 rs373052302	251	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1370628285 CA339835209	253	L>F		No	ClinGen gnomAD
rs1297238576 CA339835203	254	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1569984852 CA339835170	256	L>I		No	ClinGen Ensembl
rs1442414449 CA339835165	256	L>R		No	ClinGen gnomAD
rs775171278 CA788012	260	H>R		No	ClinGen ExAC TOPMed gnomAD
CA20970098 rs868291294	260	H>Y		No	ClinGen Ensembl
rs771577841 CA788011	261	R>G		No	ClinGen ExAC gnomAD
COSM3741280 CA788009 rs201156716	262	R>C	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA339835038 rs1394980034	262	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA788010 rs201156716	262	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs749150087 CA788007	263	Y>C		No	ClinGen ExAC gnomAD
rs770852136 CA788008	263	Y>D		No	ClinGen ExAC gnomAD
rs769581003 CA788005	266	K>R		No	ClinGen ExAC TOPMed gnomAD
CA20970086 rs965050390	267	N>S		No	ClinGen gnomAD
CA788004 rs149680997	269	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA339833902 rs1428543633	274	D>E		No	ClinGen TOPMed
rs766355300 CA787991	275	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA20969955 rs866540220	278	G>V		No	ClinGen TOPMed gnomAD
rs1557535642 CA339833729	281	Q>L		No	ClinGen Ensembl
CA787987 rs199622789	283	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145009373 CA787988	283	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1216089537 CA339833649	284	G>S		No	ClinGen TOPMed
CA787985 rs768991397	287	E>G		No	ClinGen ExAC gnomAD
rs139483552 CA787983	289	H>Q		No	ClinGen ESP ExAC gnomAD
rs746370002 CA787981	290	E>K		No	ClinGen ExAC gnomAD
rs1457833897 CA339833466	292	L>R		No	ClinGen gnomAD
rs1305919589 CA339833457	293	I>V		No	ClinGen TOPMed
rs1390998022 CA339833436	294	T>S		No	ClinGen gnomAD
rs779420318 CA787980	295	E>D		No	ClinGen ExAC gnomAD
CA787979 rs757624226	297	K>R		No	ClinGen ExAC gnomAD
CA339833309 rs1283729380	301	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA339833297 rs1281071116	302	T>S		No	ClinGen TOPMed
rs975655449 CA20969930	303	S>G		No	ClinGen TOPMed
rs1166592246 CA339833262	303	S>R		No	ClinGen gnomAD
rs767197950 CA787977	304	N>D		No	ClinGen ExAC TOPMed gnomAD
rs778548439 CA20969926	304	N>K		No	ClinGen TOPMed
rs1260916000 CA339833214	306	L>F		No	ClinGen gnomAD
CA339832986 rs1232585386	311	I>N		No	ClinGen TOPMed gnomAD
CA339832984 rs1232585386	311	I>T		No	ClinGen TOPMed gnomAD
rs754986237 CA787957	313	A>R		No	ClinGen ExAC
rs1331817895 CA339832892	315	K>N		No	ClinGen TOPMed gnomAD
rs1005202381 CA20969808	315	K>R		No	ClinGen TOPMed
rs1325754879 CA339832882	316	Q>*		No	ClinGen gnomAD
CA339832829 rs1479667934	318	T>I		No	ClinGen gnomAD
CA339832805 rs1370186140	319	K>N		No	ClinGen gnomAD
rs756431935 CA787954	320	R>G		No	ClinGen ExAC gnomAD
CA787953 rs141381625	320	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1569979527 CA339832765	321	Y>C		No	ClinGen Ensembl
CA339832738 rs370866302	323	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs370866302 CA787952	323	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1378806526 CA339832722	324	K>E		No	ClinGen gnomAD
CA339832647 rs1220220039	326	N>K		No	ClinGen TOPMed
CA787950 rs201998234	327	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs761816214 CA787948	328	W>C		No	ClinGen ExAC TOPMed gnomAD
rs765122130 CA787949	328	W>R		No	ClinGen ExAC gnomAD
rs865899698 CA20969780	332	R>C		No	ClinGen gnomAD
CA787947 rs79374109	332	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	334	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1396987594 CA339832487	334	L>F		No	ClinGen TOPMed
rs773896320 CA21024590	336	R>I		No	ClinGen Ensembl
CA339839896 rs1342175545	337	P>R		No	ClinGen gnomAD
rs752510380 CA787924	338	G>C		No	ClinGen ExAC gnomAD
CA787922 rs759827684	339	P>L		No	ClinGen ExAC TOPMed gnomAD
CA787923 rs767681909	339	P>S		No	ClinGen ExAC TOPMed gnomAD
CA339839862 rs1381410607	340	I>V		No	ClinGen Ensembl
CA339839845 rs1160757090	341	V>L		No	ClinGen gnomAD
CA21024534 rs1022582532	342	P>A		No	ClinGen Ensembl
TCGA novel	342	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339839793 rs771005334	343	P>H		No	ClinGen ExAC TOPMed gnomAD
CA787920 rs771005334	343	P>L		No	ClinGen ExAC TOPMed gnomAD
CA339839784 rs1438381959	344	V>F		No	ClinGen TOPMed
rs1223191136 CA339839614	351	D>E		No	ClinGen TOPMed
TCGA novel	351	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339839596 rs1269002441	353	S>A		No	ClinGen TOPMed
rs1473358142 CA339839586	353	S>L		No	ClinGen TOPMed gnomAD
CA339839552 rs1464488462	355	W>G		No	ClinGen gnomAD
rs1248652017 CA339839516	357	E>K		No	ClinGen gnomAD
TCGA novel	357	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770456943 CA21024463	359	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs78673047 CA21024457	361	E>*		No	ClinGen Ensembl
CA21024449 rs957138977	362	P>T		No	ClinGen TOPMed
rs1031010104 CA339839438	363	A>G		No	ClinGen gnomAD
CA21024439 rs1031010104	363	A>V		No	ClinGen gnomAD
TCGA novel	364	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339839428 rs1332892161	364	L>P		No	ClinGen gnomAD
rs781594045 CA787915	365	E>K		No	ClinGen ExAC gnomAD
rs371087760 CA787913	367	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1227505728 CA339839380	368	Q>H		No	ClinGen gnomAD
CA21024386 rs906644851	368	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	369	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1365842980 CA339839376	369	S>R		No	ClinGen gnomAD
CA339839272 rs1166025855	373	G>V		No	ClinGen gnomAD
rs1569961460 CA339839265	374	H>Q		No	ClinGen Ensembl
rs1424480689 CA339839269	374	H>Y		No	ClinGen gnomAD
CA339839256 rs766782475	375	K>N		No	ClinGen Ensembl
rs1191854886 CA339839259	375	K>R		No	ClinGen gnomAD
CA787893 rs372380634	377	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA787892 rs372380634	377	T>P		No	ClinGen 1000Genomes ExAC gnomAD
rs572987056 CA787891	379	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1569961181 CA339839196	380	P>L		No	ClinGen Ensembl
rs777447388 CA787890	380	P>S		No	ClinGen ExAC TOPMed gnomAD
CA21024051 rs371010274	381	I>V		No	ClinGen ESP TOPMed
CA787889 rs755646032	382	K>R		No	ClinGen ExAC TOPMed gnomAD
CA787888 rs748122835	383	M>T		No	ClinGen ExAC TOPMed gnomAD
rs199509767 CA21024035	384	P>S		No	ClinGen TOPMed gnomAD
CA21024011 rs982102147	385	Y>H		No	ClinGen TOPMed
rs754858413 CA787886	386	N>S		No	ClinGen ExAC TOPMed gnomAD
CA21023995 rs1049004134	387	E>K		No	ClinGen TOPMed
rs1251512241 CA339839084	388	A>D		No	ClinGen gnomAD
rs1421150782 CA339839089	388	A>T		No	ClinGen gnomAD
rs1370700120 CA339839048	390	N>K		No	ClinGen gnomAD
rs1287374988 CA339839030	392	R>G		No	ClinGen gnomAD
rs1023710991 CA21023993	394	Y>C		No	ClinGen Ensembl
rs751306904 CA787884	396	L>P		No	ClinGen ExAC gnomAD
CA21023978 rs1012285259	398	D>N		No	ClinGen TOPMed
CA787883 rs766627742	400	C>R		No	ClinGen ExAC gnomAD
CA339838889 rs367752391	402	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1382094535 CA787880	402	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1016104698 CA21023906	403	I>T		No	ClinGen TOPMed
rs899214919 CA21023910	403	I>V		No	ClinGen Ensembl
CA339838807 rs1176815929	408	R>C		No	ClinGen TOPMed gnomAD
rs761729793 CA787877	408	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA787874 rs761144787	410	W>R		No	ClinGen ExAC gnomAD
CA339838768 rs1480188897	411	A>T		No	ClinGen TOPMed gnomAD
rs147582410 CA787855	412	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA21022012 rs756487188	413	H>P		No	ClinGen Ensembl
rs372661697 CA21021979	414	I>M		No	ClinGen ESP TOPMed
COSM535246 CA787852 rs759925090	414	I>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1321561717 CA339838583	417	K>E		No	ClinGen gnomAD
TCGA novel	417	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339838537 rs1557524833	420	L>S		No	ClinGen Ensembl
rs769323985 CA787850	425	K>Q		No	ClinGen ExAC gnomAD
rs1319925746 CA339838460	426	R>K		No	ClinGen gnomAD
rs761422981 CA787849	428	R>S		No	ClinGen ExAC gnomAD
rs1457207847 CA339838391	431	S>*		No	ClinGen gnomAD
rs1181862052 CA339838399	431	S>P		No	ClinGen TOPMed
CA21021890 rs1016666545	432	D>V		No	ClinGen Ensembl
CA21021878 rs1006831109	434	V>I		No	ClinGen TOPMed
CA339838300 rs1166660338	437	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA787846 rs768158477	439	S>N		No	ClinGen ExAC
TCGA novel	440	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746980201 CA787845	440	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1459238821 CA339838196	442	V>I		No	ClinGen TOPMed
CA787843 rs779899770	444	P>L		No	ClinGen ExAC gnomAD
CA339838158 rs1264818114	444	P>S		No	ClinGen gnomAD
CA787840 rs745646821	445	D>G		No	ClinGen ExAC gnomAD
CA339838105 rs1386388712	446	H>Q		No	ClinGen TOPMed
rs1225225381 CA339838111	446	H>R		No	ClinGen gnomAD
rs1329647003 CA339838102	447	N>D		No	ClinGen TOPMed
CA787836 rs368380890 CA787837	447	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1328337497 CA339838035	451	K>E		No	ClinGen gnomAD
CA787835 rs777746600	451	K>N		No	ClinGen ExAC gnomAD
CA339837999 rs1445220485	452	E>G		No	ClinGen TOPMed
CA787834 rs753273813	455	S>C		No	ClinGen ExAC gnomAD
rs753273813 CA787833	455	S>F		No	ClinGen ExAC gnomAD
TCGA novel	455	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753015621 CA787831	456	P>S		No	ClinGen ExAC TOPMed gnomAD
CA787830 rs764987272 CA787829	457	G>R		No	ClinGen ExAC TOPMed gnomAD
rs761390528 CA787828	460	D>E		No	ClinGen ExAC TOPMed gnomAD
rs768054657 CA787826	461	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs768054657 COSM1473971 CA787827	461	Q>E	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs768054657 CA21021722	461	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1035490091 CA21021708	462	E>G		No	ClinGen TOPMed gnomAD
rs981287489 CA21021699	465	C>W		No	ClinGen TOPMed gnomAD
rs775461671 CA787824	467	V>I		No	ClinGen ExAC TOPMed gnomAD

1 associated diseases with Q9H3H1

[MIM: 617873]: Combined oxidative phosphorylation deficiency 35 (COXPD35)

An autosomal recessive disorder caused by defective mitochondrial metabolism and deficiencies of mitochondrial respiratory enzyme complexes. Clinical manifestations include global developmental delay, intellectual disability, microcephaly, and early-onset seizures. {ECO:0000269|PubMed:24901367, ECO:0000269|PubMed:28185376, ECO:0000269|PubMed:32088416, ECO:0000269|PubMed:32948376}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive disorder caused by defective mitochondrial metabolism and deficiencies of mitochondrial respiratory enzyme complexes. Clinical manifestations include global developmental delay, intellectual disability, microcephaly, and early-onset seizures. {ECO:0000269|PubMed:24901367, ECO:0000269|PubMed:28185376, ECO:0000269|PubMed:32088416, ECO:0000269|PubMed:32948376}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q9H3H1

Type	Name	Position	InterPro Accession
domain	Matrin/U1-C-like, C2H2-type zinc finger	392 - 426	IPR003604
domain	Zinc finger, double-stranded RNA binding	397 - 419	IPR022755

Functions

		Description
EC Number	2.5.1.75	Transferring alkyl or aryl groups, other than methyl groups
Subcellular Localization	[Isoform 1]: Mitochondrion ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
mitochondrial matrix	The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
nucleic acid binding	Binding to a nucleic acid.
tRNA dimethylallyltransferase activity	Catalysis of the reaction: dimethylallyl diphosphate + tRNA = diphosphate + tRNA containing 6-dimethylallyladenosine.
zinc ion binding	Binding to a zinc ion (Zn).

2 GO annotations of biological process

Name	Definition
mitochondrial tRNA modification	The covalent alteration of one or more nucleotides within a mitochondrial tRNA molecule to produce a mitochondrial tRNA molecule with a sequence that differs from that coded genetically.
tRNA modification	The covalent alteration of one or more nucleotides within a tRNA molecule to produce a tRNA molecule with a sequence that differs from that coded genetically.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P16384	miaA	tRNA dimethylallyltransferase	Escherichia coli (strain K12)	PR
Q80UN9	Trit1	tRNA dimethylallyltransferase	Mus musculus (Mouse)	PR
Q9LJL4	IPT8	Adenylate isopentenyltransferase 8, chloroplastic	Arabidopsis thaliana (Mouse-ear cress)	PR
Q93WC9	IPT3	Adenylate isopentenyltransferase 3, chloroplastic	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MASVAAARAV	PVGSGLRGLQ	RTLPLVVILG	ATGTGKSTLA	LQLGQRLGGE	IVSADSMQVY
70	80	90	100	110	120
EGLDIITNKV	SAQEQRICRH	HMISFVDPLV	TNYTVVDFRN	RATALIEDIF	ARDKIPIVVG
130	140	150	160	170	180
GTNYYIESLL	WKVLVNTKPQ	EMGTEKVIDR	KVELEKEDGL	VLHKRLSQVD	PEMAAKLHPH
190	200	210	220	230	240
DKRKVARSLQ	VFEETGISHS	EFLHRQHTEE	GGGPLGGPLK	FSNPCILWLH	ADQAVLDERL
250	260	270	280	290	300
DKRVDDMLAA	GLLEELRDFH	RRYNQKNVSE	NSQDYQHGIF	QSIGFKEFHE	YLITEGKCTL
310	320	330	340	350	360
ETSNQLLKKG	IEALKQVTKR	YARKQNRWVK	NRFLSRPGPI	VPPVYGLEVS	DVSKWEESVL
370	380	390	400	410	420
EPALEIVQSF	IQGHKPTATP	IKMPYNEAEN	KRSYHLCDLC	DRIIIGDREW	AAHIKSKSHL
430	440	450	460
NQLKKRRRLD	SDAVNTIESQ	SVSPDHNKEP	KEKGSPGQND	QELKCSV