AiPD: Autoinhibited Protein Database

Q8TAE8

Gene name	GADD45GIP1 (MRPL59, PLINP1, PRG6)
Protein name	Growth arrest and DNA damage-inducible proteins-interacting protein 1
Names	39S ribosomal protein L59, mitochondrial, MRP-L59, CKII beta-associating protein, CR6-interacting factor 1, CRIF1, Mitochondrial large ribosomal subunit protein mL64, Papillomavirus L2-interacting nuclear protein 1, PLINP, PLINP-1, p53-responsive gene 6 protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:90480
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-222 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-222 (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

61 structures for Q8TAE8

Entry ID	Method	Resolution	Chain	Position	Source
3J7Y	EM	340 A	q	1-222	PDB
3J9M	EM	350 A	q	1-222	PDB
5OOL	EM	306 A	q	1-222	PDB
5OOM	EM	303 A	q	1-222	PDB
6I9R	EM	390 A	q	1-222	PDB
6NU2	EM	390 A	q	25-152	PDB
6NU3	EM	440 A	q	1-222	PDB
6VLZ	EM	297 A	q	1-222	PDB
6VMI	EM	296 A	q	1-222	PDB
6ZM5	EM	289 A	q	1-222	PDB
6ZM6	EM	259 A	q	1-222	PDB
6ZS9	EM	400 A	q	25-222	PDB
6ZSA	EM	400 A	q	25-222	PDB
6ZSB	EM	450 A	q	25-222	PDB
6ZSC	EM	350 A	q	25-222	PDB
6ZSD	EM	370 A	q	25-222	PDB
6ZSE	EM	500 A	q	25-222	PDB
6ZSG	EM	400 A	q	25-222	PDB
7A5F	EM	440 A	q3	1-222	PDB
7A5G	EM	433 A	q3	1-222	PDB
7A5H	EM	330 A	q	1-222	PDB
7A5I	EM	370 A	q3	1-222	PDB
7A5J	EM	310 A	q	1-222	PDB
7A5K	EM	370 A	q3	1-222	PDB
7L08	EM	349 A	q	1-222	PDB
7L20	EM	315 A	q	1-222	PDB
7O9K	EM	310 A	q	1-222	PDB
7O9M	EM	250 A	q	1-222	PDB
7ODR	EM	290 A	q	1-222	PDB
7ODS	EM	310 A	q	1-222	PDB
7ODT	EM	310 A	q	1-222	PDB
7OF0	EM	220 A	q	1-222	PDB
7OF2	EM	270 A	q	1-222	PDB
7OF3	EM	270 A	q	1-222	PDB
7OF4	EM	270 A	q	1-222	PDB
7OF5	EM	290 A	q	1-222	PDB
7OF6	EM	260 A	q	1-222	PDB
7OF7	EM	250 A	q	1-222	PDB
7OG4	EM	380 A	q	1-222	PDB
7OI6	EM	570 A	q	1-222	PDB
7OI7	EM	350 A	q	1-222	PDB
7OI8	EM	350 A	q	1-222	PDB
7OI9	EM	330 A	q	1-222	PDB
7OIA	EM	320 A	q	1-222	PDB
7OIB	EM	330 A	q	1-222	PDB
7OIC	EM	310 A	q	1-222	PDB
7OID	EM	370 A	q	1-222	PDB
7OIE	EM	350 A	q	1-222	PDB
7PD3	EM	340 A	q	1-222	PDB
7PO4	EM	256 A	q	1-222	PDB
7QH6	EM	308 A	q	1-222	PDB
7QH7	EM	289 A	q	25-125	PDB
7QI4	EM	221 A	q	1-222	PDB
7QI5	EM	263 A	q	1-222	PDB
7QI6	EM	298 A	q	1-222	PDB
8ANY	EM	285 A	q	1-222	PDB
8OIR	EM	310 A	Bg	1-222	PDB
8OIT	EM	290 A	Bg	1-222	PDB
8PK0	EM	303 A	q	1-222	PDB
8QSJ	EM	300 A	q	1-222	PDB
AF-Q8TAE8-F1	Predicted				AlphaFoldDB

239 variants for Q8TAE8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA305537235 rs895755261	3	A>V		No	ClinGen Ensembl
CA9236691 rs370093791	4	S>F		No	ClinGen ExAC TOPMed gnomAD
rs201167687 CA9236690	5	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1411006042 CA404328615	5	V>L		No	ClinGen gnomAD
rs745710641 CA9236689	6	R>*		No	ClinGen ExAC TOPMed gnomAD
rs745710641 CA9236688	6	R>G		No	ClinGen ExAC TOPMed gnomAD
CA404328605 rs1242685762	6	R>Q		No	ClinGen TOPMed
CA404328592 rs770570863	7	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA305537206 rs746682388	8	A>S		No	ClinGen ExAC TOPMed gnomAD
rs746682388 CA9236685	8	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1454510303 CA404328580	8	A>V		No	ClinGen TOPMed
rs368608096 CA404328578	9	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs375539782 CA9236683 RCV000845050	9	R>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs375539782 CA9236682	9	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9236684 rs368608096	9	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9236680 rs756639068	10	S>I		No	ClinGen ExAC TOPMed gnomAD
CA305537176 rs756639068	10	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1346349200 CA404328567	10	S>R		No	ClinGen TOPMed
CA305537129 rs867269528	13	G>C		No	ClinGen TOPMed
rs757515158 CA9236677	13	G>D		No	ClinGen ExAC gnomAD
rs867269528 CA404328536	13	G>R		No	ClinGen TOPMed
CA9236675 rs764383203	14	V>M		No	ClinGen ExAC gnomAD
rs867360985 CA404328510	15	A>G		No	ClinGen TOPMed
rs867360985 CA305537107	15	A>V		No	ClinGen TOPMed
rs763177051 CA9236674	16	A>T		No	ClinGen ExAC TOPMed gnomAD
CA305537095 rs921421453	16	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs375773932 CA305537070	19	A>S		No	ClinGen ExAC TOPMed gnomAD
rs375773932 CA9236673	19	A>T		No	ClinGen ExAC TOPMed gnomAD
rs201963140 CA9236672	19	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759528552 CA9236671	23	R>P		No	ClinGen ExAC gnomAD
rs1483357557 CA404328438	23	R>S		No	ClinGen Ensembl
CA404328386 rs1274903915	26	R>Q		No	ClinGen TOPMed
TCGA novel	29	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232575456 CA404328341	30	P>H		No	ClinGen TOPMed
rs776379682 CA9236670	30	P>S		No	ClinGen ExAC TOPMed gnomAD
CA404328323 rs1395266967	31	P>L		No	ClinGen gnomAD
CA9236669 rs143026997	35	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404328260 rs1478971768	36	G>E		No	ClinGen gnomAD
rs746774476 CA9236668	37	P>S		No	ClinGen ExAC gnomAD
CA404328248 rs1032375762	38	R>G		No	ClinGen gnomAD
rs772901169 CA9236667	39	W>C		No	ClinGen ExAC TOPMed gnomAD
rs552412466 CA305536976	41	D>E		No	ClinGen 1000Genomes gnomAD
CA404328197 rs1248503576	41	D>G		No	ClinGen TOPMed gnomAD
rs1437341159 CA404328183	42	P>H		No	ClinGen TOPMed gnomAD
rs1437341159 CA404328181	42	P>L		No	ClinGen TOPMed gnomAD
CA305536947 rs751379568	43	E>D		No	ClinGen TOPMed
CA404328153 rs1200763560	44	D>A		No	ClinGen TOPMed gnomAD
rs1353076520 CA404328159	44	D>N		No	ClinGen TOPMed
CA305536930 rs981251027	46	L>P		No	ClinGen Ensembl
CA404328126 rs747722304	46	L>V		No	ClinGen ExAC gnomAD
CA404328106 rs778491961	47	T>I		No	ClinGen ExAC gnomAD
CA9236664 rs778491961	47	T>S		No	ClinGen ExAC gnomAD
rs1365457340 CA404328100	48	P>S		No	ClinGen TOPMed gnomAD
rs1276574798 CA404328083	49	R>L		No	ClinGen gnomAD
CA404328086 rs1276574798	49	R>Q		No	ClinGen gnomAD
rs1436508187 CA404328059	51	Q>*		No	ClinGen gnomAD
CA305536900 rs969523776	53	G>R		No	ClinGen Ensembl
rs746409844 CA9236662	54	P>Q		No	ClinGen ExAC gnomAD
CA404327984 rs112984768	56	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9236661 rs781512989	56	Y>H		No	ClinGen ExAC gnomAD
rs751953646 CA9236659	57	A>P		No	ClinGen ExAC TOPMed gnomAD
rs751953646 CA404327981	57	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9236658 rs764471023	57	A>V		No	ClinGen ExAC
rs752906160 CA9236656	58	A>G		No	ClinGen ExAC gnomAD
CA9236657 rs758692129	58	A>P		No	ClinGen ExAC gnomAD
CA404327935 rs1439287744	60	Q>E		No	ClinGen TOPMed
rs1276453565 CA404327927	60	Q>H		No	ClinGen Ensembl
CA404327915 rs1458424054	61	F>C		No	ClinGen TOPMed gnomAD
rs1238531324 CA404327909	62	A>T		No	ClinGen gnomAD
rs1014101162 CA305536842	62	A>V		No	ClinGen Ensembl
CA9236653 rs759490188	63	R>C		No	ClinGen ExAC gnomAD
CA9236651 rs776667770	64	Y>*		No	ClinGen ExAC gnomAD
CA9236650 rs200131893	65	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404327859 rs1306528164	66	A>P		No	ClinGen gnomAD
rs1377231954 CA404327846	67	A>T		No	ClinGen gnomAD
CA9236647 rs771786408	68	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1335701434 CA404327831	68	S>P		No	ClinGen gnomAD
rs771786408 CA9236648	68	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA9236646 rs747814159	69	G>W		No	ClinGen ExAC gnomAD
rs1400700980 CA404327800	70	V>L		No	ClinGen gnomAD
rs1400700980 CA404327805	70	V>M		No	ClinGen gnomAD
CA9236643 rs748716864	73	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9236642 rs373898905	74	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1210710937 CA404327613	76	W>*		No	ClinGen gnomAD
CA9236640 rs202083065	76	W>R		No	ClinGen 1000Genomes ExAC gnomAD
CA404327588 rs888105931	77	P>L		No	ClinGen TOPMed gnomAD
CA305536709 rs888105931	77	P>R		No	ClinGen TOPMed gnomAD
CA9236639 rs139904917	77	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9236638 rs540101166	78	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9236637 rs140839998	79	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1226325326 CA404327544	79	P>L		No	ClinGen gnomAD
rs755133440 CA9236635	80	E>*		No	ClinGen ExAC gnomAD
rs1217961166 CA404326532	80	E>G		No	ClinGen TOPMed
CA404326496 rs1359147007	82	L>M		No	ClinGen gnomAD
rs766367899 CA9236634	82	L>Q		No	ClinGen ExAC gnomAD
rs766367899 CA9236633	82	L>R		No	ClinGen ExAC gnomAD
CA9236632 rs750304726	84	E>*		No	ClinGen ExAC TOPMed gnomAD
CA9236631 rs750304726	84	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9236630 rs767324749	84	E>V		No	ClinGen ExAC gnomAD
rs761556952 CA9236629	85	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1214926366 CA404326420	87	A>T		No	ClinGen TOPMed
rs371844428 CA305536614	89	E>K		No	ClinGen Ensembl
rs1182272418 CA404326370	90	R>C		No	ClinGen TOPMed gnomAD
CA404326368 rs1225922812	90	R>H		No	ClinGen Ensembl
CA404326351 rs1485448545	91	E>G		No	ClinGen TOPMed
rs1290283104 CA404326358	91	E>Q		No	ClinGen gnomAD
CA9236624 rs137887501	94	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9236625 rs137887501	94	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1264413027 CA404326230	97	A>E		No	ClinGen TOPMed gnomAD
rs1218903773 CA404326202	99	M>I		No	ClinGen gnomAD
rs1323188761 CA404326199	100	Q>*		No	ClinGen gnomAD
CA404326190 rs1313029762	100	Q>H		No	ClinGen gnomAD
TCGA novel	101	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404326147 rs1280571192	103	L>R		No	ClinGen gnomAD
CA404326140 rs1365019603	104	R>P		No	ClinGen TOPMed gnomAD
rs1365019603 CA404326142	104	R>Q		No	ClinGen TOPMed gnomAD
rs200027341 CA9236619	104	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA404326107 rs1291909657	107	Q>*		No	ClinGen gnomAD
CA404326066 rs1599674420	110	E>G		No	ClinGen Ensembl
rs1459612190 COSM1480606 CA404326070	110	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1429528023 CA404326039	112	Q>P		No	ClinGen gnomAD
rs755150760 CA9236618	114	R>S		No	ClinGen ExAC gnomAD
rs754023068 CA9236617	115	R>W		No	ClinGen ExAC gnomAD
CA404325993 rs1599674414	116	E>K		No	ClinGen Ensembl
CA9236616 rs780120256	117	R>T		No	ClinGen ExAC gnomAD
CA9236591 rs757140081	121	I>V		No	ClinGen ExAC TOPMed gnomAD
COSM116300 rs148072118 CA404325015	122	A>E	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs763813009 CA9236589	122	A>T		No	ClinGen ExAC gnomAD
CA9236588 rs148072118	122	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9236584 rs776275022	124	C>R		No	ClinGen ExAC TOPMed gnomAD
rs143603243 CA9236583	124	C>Y		No	ClinGen ESP ExAC gnomAD
rs762239065 CA9236582	125	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1010745578 CA305533856	127	K>E		No	ClinGen gnomAD
rs149233851 CA9236581	127	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9236580 rs768933600	130	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	130	Q>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404324871 rs1207172741	131	M>T		No	ClinGen TOPMed
rs749633529 CA9236579	131	M>V		No	ClinGen ExAC gnomAD
CA9236578 rs775739599	133	V>M		No	ClinGen ExAC gnomAD
rs1442205715 CA404324837	134	N>H		No	ClinGen gnomAD
TCGA novel	134	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1202681784 CA404324805	135	W>*		No	ClinGen gnomAD
TCGA novel	137	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374313725 CA9236577	138	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404324758 rs374313725	138	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404324737 rs1285973184	139	Q>E		No	ClinGen gnomAD
rs1237995606 CA404324725 CA404324727	139	Q>H		No	ClinGen gnomAD
CA404324713 rs1213215072	140	R>P		No	ClinGen TOPMed gnomAD
CA404324715 rs1213215072	140	R>Q		No	ClinGen TOPMed gnomAD
rs746017634 CA9236576	140	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	141	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138389030 CA9236573	141	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	146	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA305533793 rs199566401	147	Q>E		No	ClinGen 1000Genomes
rs1331998735 CA404324598	147	Q>R		No	ClinGen gnomAD
rs372092303 CA9236571	149	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs777730796 CA9236570	151	E>*		No	ClinGen ExAC gnomAD
CA404324540 rs777730796	151	E>K		No	ClinGen ExAC gnomAD
rs758173904 CA9236569	153	R>T		No	ClinGen ExAC gnomAD
rs765047480 CA9236567	154	A>V		No	ClinGen ExAC gnomAD
CA404324484 rs1329450675	155	R>*		No	ClinGen TOPMed
rs754680189 CA404324477	155	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754680189 CA9236566	155	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1190006656 CA404324456	157	Q>P		No	ClinGen gnomAD
rs753483731 CA9236565	158	A>P		No	ClinGen ExAC gnomAD
rs753483731 CA404324446	158	A>T		No	ClinGen ExAC gnomAD
CA404324391 rs1489307811	161	Q>R		No	ClinGen TOPMed gnomAD
rs765828533 CA9236563	162	E>D		No	ClinGen ExAC gnomAD
CA404324347 rs1354554281	164	L>P		No	ClinGen TOPMed gnomAD
CA9236561 rs774760846	165	G>A		No	ClinGen ExAC gnomAD
rs764642856 CA9236560	170	P>L		No	ClinGen ExAC gnomAD
rs1246649256 CA404324244	170	P>T		No	ClinGen gnomAD
CA404324193 rs1340227923	173	A>V		No	ClinGen Ensembl
rs968623056 CA404324185	174	R>C		No	ClinGen TOPMed gnomAD
rs968623056 CA305533663	174	R>G		No	ClinGen TOPMed gnomAD
rs763367169 COSM991551 CA9236559	174	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel rs868358618 CA305533654	175	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
CA9236558 rs201807739	176	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs11538996 CA305533642	177	E>*		No	ClinGen gnomAD
CA9236557 rs770079638	177	E>D		No	ClinGen ExAC gnomAD
CA404324144 rs1274292674	177	E>G		No	ClinGen TOPMed
CA404324148 rs11538996	177	E>K		No	ClinGen gnomAD
CA404324099 rs1568456419	181	D>H		No	ClinGen Ensembl
CA305533622 rs898928886	183	E>D		No	ClinGen Ensembl
rs1208502392 CA404324072	183	E>G		No	ClinGen TOPMed
CA404324076 rs1568456413	183	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1297141756 CA404324061	184	K>E		No	ClinGen Ensembl
rs777674072	185	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs776867278 CA9236553	186	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1568456391 CA404324030	186	E>K		No	ClinGen Ensembl
rs753799047 CA9236552	187	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA404324015 rs753799047	187	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9236551 rs779779033	187	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA305533581 rs569966188	188	K>E		No	ClinGen 1000Genomes
CA9236550 rs755977311	189	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs147251319 CA9236549	189	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1177995147 CA404323978	190	L>F		No	ClinGen TOPMed
CA305533541 rs750180878	191	K>E		No	ClinGen Ensembl
CA9236548 rs748030479	191	K>T		No	ClinGen ExAC gnomAD
CA305533517 rs905897337	192	E>K		No	ClinGen TOPMed
CA9236545 rs754771873	194	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	195	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753575831 CA9236544	196	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs752340689	196	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs779727147 CA9236542	197	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9236541 RCV000893768 rs145414355	199	K>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9236537 rs763458570	200	E>A		No	ClinGen ExAC gnomAD
CA404323830 rs763458570	200	E>G		No	ClinGen ExAC gnomAD
rs764577965 CA9236539	200	E>K		No	ClinGen ExAC
CA9236534 rs376894201	201	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs142092571 CA9236533	202	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9236532 rs371504821	202	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA305533414 rs1021713144	205	A>E		No	ClinGen gnomAD
rs367719611 CA305533424	205	A>T		No	ClinGen ESP
CA404323788 rs1021713144	205	A>V		No	ClinGen gnomAD
CA404323784 rs1199825864	206	L>S		No	ClinGen gnomAD
rs773344117 CA9236529	208	A>T		No	ClinGen ExAC gnomAD
rs1202836423 CA404323772	208	A>V		No	ClinGen TOPMed gnomAD
CA9236528 rs772219178	209	A>V		No	ClinGen ExAC TOPMed gnomAD
CA404323760 rs1444529631	210	V>A		No	ClinGen gnomAD
CA404323757 rs1319757901	211	A>T		No	ClinGen gnomAD
CA404323741 rs1599673031	213	D>A		No	ClinGen Ensembl
CA404323734 rs1218647962	214	P>A		No	ClinGen gnomAD
rs1342250035 CA404323731	214	P>L		No	ClinGen gnomAD
rs1218647962 CA404323736	214	P>S		No	ClinGen gnomAD
rs1234525948 CA404323726	215	A>G		No	ClinGen gnomAD
rs1276154598 CA404323729	215	A>P		No	ClinGen gnomAD
CA404323727 rs1234525948	215	A>V		No	ClinGen gnomAD
rs768612930 CA9236525	216	A>P		No	ClinGen ExAC TOPMed gnomAD
CA305533372 rs1033501364	218	G>E		No	ClinGen Ensembl
rs779633117 CA9236522	218	G>R		No	ClinGen ExAC gnomAD
CA404323708 rs1413323876	219	A>T		No	ClinGen gnomAD
CA404323700 rs1427319803	220	P>S		No	ClinGen gnomAD
CA404323702 rs1427319803	220	P>T		No	ClinGen gnomAD
CA404323695 rs1174297242	221	S>G		No	ClinGen gnomAD
CA404323689 rs1285736132	221	S>R		No	ClinGen TOPMed
rs1346591930 CA404323685	222	S>F		No	ClinGen TOPMed
CA404323680 rs1439189971	223	S>G		No	ClinGen gnomAD
TCGA novel	223	S>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q8TAE8

No regional properties for Q8TAE8

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8TAE8

Functions

		Description
EC Number
Subcellular Localization	Mitochondrion Nucleus	Using N-terminally tagged constructs, has been found in the nucleus (PubMed:12482659) C-terminally tagged constructs are targeted exclusively to mitochondria (PubMed:22453275) This discrepancy may be explained by masking of a potential N-terminal mitochondrial targeting signal by the tag (PubMed:22453275)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
mitochondrial inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
mitochondrial large ribosomal subunit	The larger of the two subunits of a mitochondrial ribosome. Two sites on the ribosomal large subunit are involved in translation: the aminoacyl site (A site) and peptidyl site (P site).
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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name	Definition
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
mitochondrial translation	The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9CR59	Gadd45gip1	Growth arrest and DNA damage-inducible proteins-interacting protein 1	Mus musculus (Mouse)	PR
Q5XJW2	Gadd45gip1	Growth arrest and DNA damage-inducible proteins-interacting protein 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAASVRQARS	LLGVAATLAP	GSRGYRARPP	PRRRPGPRWP	DPEDLLTPRW	QLGPRYAAKQ
70	80	90	100	110	120
FARYGAASGV	VPGSLWPSPE	QLRELEAEER	EWYPSLATMQ	ESLRVKQLAE	EQKRREREQH
130	140	150	160	170	180
IAECMAKMPQ	MIVNWQQQQR	ENWEKAQADK	ERRARLQAEA	QELLGYQVDP	RSARFQELLQ
190	200	210	220
DLEKKERKRL	KEEKQKRKKE	ARAAALAAAV	AQDPAASGAP	SS