AiPD: Autoinhibited Protein Database

Q8IV48

Gene name	ERI1 (3'EXO, THEX1)
Protein name	3'-5' exoribonuclease 1
Names	3'-5' exonuclease ERI1, Eri-1 homolog, Histone mRNA 3'-end-specific exoribonuclease, Histone mRNA 3'-exonuclease 1, Protein 3'hExo, HEXO
Species	Homo sapiens (Human)
KEGG Pathway	hsa:90459
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-154 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-154 (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

6 structures for Q8IV48

Entry ID	Method	Resolution	Chain	Position	Source
1W0H	X-ray	159 A	A	123-322	PDB
1ZBH	X-ray	300 A	A/B/C/D	51-349	PDB
1ZBU	X-ray	300 A	A/B/C/D	1-349	PDB
4L8R	X-ray	260 A	B/E	55-349	PDB
4QOZ	X-ray	230 A	B/E	55-349	PDB
AF-Q8IV48-F1	Predicted				AlphaFoldDB

380 variants for Q8IV48

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000714292 rs1563322318	209	K>*	Global developmental delay [ClinVar]	Yes	ClinVar dbSNP
RCV001254154 rs766625084	244	Q>*	ERI1-associated disorder [ClinVar]	Yes	ClinVar dbSNP
rs1394673905 CA370262162	2	E>G		No	ClinGen TOPMed gnomAD
rs918121258 CA171619922	4	P>S		No	ClinGen TOPMed
TCGA novel	6	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370262190 rs1392187226	6	S>T		No	ClinGen TOPMed
CA171619929 rs1036766746	8	E>*		No	ClinGen TOPMed gnomAD
rs896802181 CA171619934	8	E>D		No	ClinGen TOPMed gnomAD
CA171619932 rs1036766746	8	E>Q		No	ClinGen TOPMed gnomAD
CA171619937 rs931008390	9	P>T		No	ClinGen Ensembl
rs1048766011 CA171619940	10	A>S		No	ClinGen gnomAD
rs889713574 CA171619943	11	G>D		No	ClinGen Ensembl
rs1280425251 CA370262217	11	G>S		No	ClinGen gnomAD
rs768829769 CA4619641	13	A>D		No	ClinGen ExAC TOPMed gnomAD
CA171619948 rs768829769	13	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1361871823 CA370262232	13	A>S		No	ClinGen gnomAD
CA370262233 rs768829769	13	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1203230953 CA370262236	14	V>A		No	ClinGen gnomAD
CA4619642 rs772030151	14	V>M		No	ClinGen ExAC gnomAD
CA370262242 rs1213749506	15	A>D		No	ClinGen gnomAD
rs1448795602 CA370262239	15	A>T		No	ClinGen gnomAD
CA370262249 rs2288672	16	L>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_018107 CA4619643 rs2288672	16	L>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA370262248 rs2288672	16	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370262252 rs1209874954	17	A>S		No	ClinGen gnomAD
CA370262256 rs1426908603	18	L>M		No	ClinGen gnomAD
CA370262264 rs1159429652	19	L>P		No	ClinGen gnomAD
CA4619645 rs61736769	24	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370262314 rs1308417345	27	G>E		No	ClinGen TOPMed
rs1424333974 CA370262312	27	G>W		No	ClinGen gnomAD
CA370262321 rs1431343866	28	E>G		No	ClinGen TOPMed
CA370262326 rs1406067747	29	E>*		No	ClinGen TOPMed gnomAD
rs1406067747 CA370262325	29	E>K		No	ClinGen TOPMed gnomAD
CA171619973 rs977794049	31	P>S		No	ClinGen TOPMed
CA370262348 rs1223338388	32	R>L		No	ClinGen TOPMed gnomAD
rs1223338388 CA370262347	32	R>P		No	ClinGen TOPMed gnomAD
CA171619980 rs967082606	32	R>S		No	ClinGen Ensembl
rs936424995 CA171619983	33	P>S		No	ClinGen TOPMed
rs755573998 CA4619691	38	T>I		No	ClinGen ExAC TOPMed gnomAD
rs755573998 CA370262398	38	T>N		No	ClinGen ExAC TOPMed gnomAD
CA4619690 rs755573998	38	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1377297658 CA370262407	40	Q>K		No	ClinGen gnomAD
CA4619694 rs374437030	40	Q>P		No	ClinGen ESP ExAC TOPMed
CA370262415 rs1400926414	41	C>R		No	ClinGen TOPMed
rs1290741533 CA370262422	42	K>Q		No	ClinGen TOPMed gnomAD
CA370262427 rs1408822418	42	K>R		No	ClinGen gnomAD
rs1382629413 CA370262435	43	F>C		No	ClinGen gnomAD
CA370262434 rs1382629413	43	F>S		No	ClinGen gnomAD
CA370262443 rs1399291405	44	D>G		No	ClinGen TOPMed gnomAD
CA370262438 rs1436571993	44	D>Y		No	ClinGen TOPMed
CA370262448 rs1167739254	45	G>C		No	ClinGen TOPMed
CA4619695 rs777989171	45	G>V		No	ClinGen ExAC gnomAD
CA370262453 rs1221476534	46	Q>*		No	ClinGen gnomAD
CA4619697 rs757317981	47	E>K		No	ClinGen ExAC TOPMed gnomAD
rs757317981 CA171623086	47	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs745771259 CA4619699	48	T>A		No	ClinGen ExAC gnomAD
CA370262468 rs1258412096	48	T>R		No	ClinGen TOPMed gnomAD
rs1490926392 CA370262481	50	G>E		No	ClinGen gnomAD
rs1270302434 CA370262478	50	G>R		No	ClinGen gnomAD
rs367704025 CA4619702	51	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA370262504 TCGA novel rs1419917180	53	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
TCGA novel	53	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370262507 rs1486976339	54	I>F		No	ClinGen TOPMed
CA370262505 rs1486976339	54	I>L		No	ClinGen TOPMed
rs1419239598 CA370262521	56	S>C		No	ClinGen TOPMed gnomAD
rs150186258 CA4619704	56	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA370262518 rs150186258	56	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs771702218 CA171623118	58	A>E		No	ClinGen ExAC TOPMed gnomAD
rs771702218 CA4619707	58	A>G		No	ClinGen ExAC TOPMed gnomAD
CA4619705 rs761613894	58	A>T		No	ClinGen ExAC gnomAD
rs771702218 CA4619706	58	A>V		No	ClinGen ExAC TOPMed gnomAD
CA171623128 rs893045154	59	S>N		No	ClinGen gnomAD
CA370262534 rs1292754403	59	S>R		No	ClinGen gnomAD
CA370262536 rs893045154	59	S>T		No	ClinGen gnomAD
TCGA novel	61	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4619710 rs753149800	61	F>V		No	ClinGen ExAC gnomAD
rs763322743 CA4619711	61	F>Y		No	ClinGen ExAC gnomAD
TCGA novel	62	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1416027388 CA370262557	62	S>N		No	ClinGen TOPMed
CA370262563 rs1348560507	63	D>H		No	ClinGen TOPMed
CA4619716 rs750465484	64	P>L		No	ClinGen ExAC TOPMed gnomAD
CA370262571 rs750465484	64	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA4619714 rs757514102	64	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4619715 rs757514102	64	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1481203862 CA370262577	65	V>A		No	ClinGen gnomAD
CA171623152 rs1044216501	67	K>E		No	ClinGen Ensembl
CA4619717 rs749939141	68	E>D		No	ClinGen ExAC gnomAD
rs370887027 CA4619718	71	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs370887027 CA4619719	71	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4619720 rs201643475	72	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA370262623 rs201643475	72	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1324254796 CA370262635	74	G>D		No	ClinGen gnomAD
rs1164050252 CA370262647	76	I>V		No	ClinGen gnomAD
rs773031867 CA4619724	78	R>S		No	ClinGen ExAC gnomAD
rs760167524 CA4619725	79	M>L		No	ClinGen ExAC TOPMed gnomAD
CA171623181 rs1035121178	81	K>N		No	ClinGen TOPMed
rs1452676050 CA370262692	82	E>Q		No	ClinGen gnomAD
rs1040018194 CA171623191	83	E>D		No	ClinGen TOPMed
rs776054694 CA4619727	85	R>S		No	ClinGen ExAC gnomAD
CA4619726 rs770364210	85	R>T		No	ClinGen ExAC gnomAD
CA370262720 rs1275628720	86	A>G		No	ClinGen TOPMed
CA171623198 rs149533035	86	A>T		No	ClinGen ESP
rs763441637 CA4619728	87	K>E		No	ClinGen ExAC gnomAD
rs764415140 CA4619729	87	K>R		No	ClinGen ExAC gnomAD
TCGA novel CA370262736 rs1233730220	89	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA4619731 rs377678941	89	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA370262739 rs762183271	90	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4619732 rs762183271	90	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA4619733 rs767684507	90	E>V		No	ClinGen ExAC gnomAD
CA4619734 rs750612447 COSM160836	91	F>L	NS [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4619735 rs756159138	95	T>S		No	ClinGen ExAC TOPMed gnomAD
CA370262803 rs1380169612	98	V>I		No	ClinGen gnomAD
CA370262820 rs759632418	100	D>A		No	ClinGen ExAC gnomAD
rs951634333 CA370262823	100	D>E		No	ClinGen TOPMed gnomAD
CA4619776 rs759632418	100	D>V		No	ClinGen ExAC gnomAD
TCGA novel	101	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765472746 CA4619777	101	V>F		No	ClinGen ExAC gnomAD
rs765472746 CA370262824	101	V>I		No	ClinGen ExAC gnomAD
CA370262829 rs1356528605	102	L>I		No	ClinGen gnomAD
CA370262830 rs1356528605	102	L>V		No	ClinGen gnomAD
CA171625344 rs202123411	103	K>R		No	ClinGen 1000Genomes
rs1404495973 CA370262844	104	K>R		No	ClinGen TOPMed
CA370262858 rs1563312851	106	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1350556478 CA370262881	109	Y>C		No	ClinGen TOPMed
CA370262888 rs1407938321	110	Y>C		No	ClinGen TOPMed
CA4619781 rs201251857	110	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370262893 rs1282418224	111	K>E		No	ClinGen gnomAD
CA370262907 rs1355312447	112	K>N		No	ClinGen gnomAD
rs1473811897 CA370262904	112	K>R		No	ClinGen TOPMed
CA4619783 rs751267957	114	K>N		No	ClinGen ExAC gnomAD
rs1456183563 CA370262926	115	L>P		No	ClinGen gnomAD
rs1274622794 CA370262924	115	L>V		No	ClinGen gnomAD
rs780639217 CA4619785	117	L>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	118	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755605434 CA4619788	120	S>R		No	ClinGen ExAC gnomAD
CA4619789 rs748620406	121	N>D		No	ClinGen ExAC gnomAD
CA4619790 rs138826421	121	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112570397 CA4619791	122	F>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112570397 CA370262973	122	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112570397 CA4619792	122	F>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA171625401 rs1050971273	123	A>G		No	ClinGen TOPMed
CA4619793 rs139876860	123	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA171625408 rs1050971273	123	A>V		No	ClinGen TOPMed
CA4619796 rs769965874	125	S>N		No	ClinGen ExAC gnomAD
CA171625424 rs902980436	127	Y>C		No	ClinGen Ensembl
rs775765543 CA4619797	127	Y>H		No	ClinGen ExAC gnomAD
CA171625427 rs369627584	128	D>E		No	ClinGen ESP TOPMed
CA4619798 rs763150619	131	C>*		No	ClinGen ExAC gnomAD
rs763894869 CA4619799	132	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4619800 rs751515029	133	I>T		No	ClinGen ExAC TOPMed gnomAD
rs761455714 CA4619801	135	F>C		No	ClinGen ExAC TOPMed gnomAD
rs1428774632 CA370263063	135	F>L		No	ClinGen TOPMed
rs1054332245 CA171625456	141	E>K		No	ClinGen Ensembl
rs1563313139 CA370263108	142	G>R		No	ClinGen Ensembl
CA370263122 rs1459226535	144	P>S		No	ClinGen TOPMed
CA370263131 rs1217629171	145	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4619804 rs755801766	145	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1023614320 CA171625470	148	V>I		No	ClinGen gnomAD
rs1023614320 CA370263150	148	V>L		No	ClinGen gnomAD
rs951535328 CA171625477	149	H>D		No	ClinGen TOPMed
CA4619807 rs754521421	149	H>Q		No	ClinGen ExAC
rs1198263497 CA370263163	150	E>A		No	ClinGen gnomAD
rs778084775 CA4619808	151	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1210527672 CA370263173	151	I>M		No	ClinGen TOPMed
rs778084775 CA370263169	151	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1267355700 CA370263175	152	I>L		No	ClinGen gnomAD
CA171625491 rs982911729	155	P>L		No	ClinGen TOPMed gnomAD
CA370263203 rs1426232030	156	V>I		No	ClinGen gnomAD
CA370263204 rs1426232030	156	V>L		No	ClinGen gnomAD
CA4619810 rs771196293	157	V>A		No	ClinGen ExAC gnomAD
CA4619812 rs754879094	161	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762870541 CA4619815	162	H>L		No	ClinGen ExAC TOPMed gnomAD
rs1170915309 CA370263238	162	H>N		No	ClinGen gnomAD
CA171625518 rs762870541	162	H>R		No	ClinGen ExAC TOPMed gnomAD
rs774140433 CA4619817	163	T>S		No	ClinGen ExAC TOPMed gnomAD
CA4619818 rs761874392	164	L>S		No	ClinGen ExAC gnomAD
rs1554515087 CA4619819	166	I>T		No	ClinGen Ensembl
rs759275280 CA4619862	168	D>G		No	ClinGen ExAC gnomAD
CA4619861 rs776540943	168	D>N		No	ClinGen ExAC gnomAD
rs769450266 CA4619863	169	T>A		No	ClinGen ExAC gnomAD
CA370260926 rs150505422	169	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4619864 rs150505422	169	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA4619866 rs200548227	171	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA370260947 rs1184069414	172	Q>R		No	ClinGen gnomAD
CA4619867 rs750958948	173	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA370260955 rs750958948	173	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1431989494 CA370260958	174	V>I		No	ClinGen TOPMed
rs1163840954 CA370260971	176	P>T		No	ClinGen gnomAD
rs1563319516 CA370260991	178	I>M		No	ClinGen Ensembl
CA370260993 rs1466831266	179	N>D		No	ClinGen gnomAD
rs766628427 CA4619869	180	T>I		No	ClinGen ExAC gnomAD
CA4619871 rs754180504	181	Q>E		No	ClinGen ExAC gnomAD
CA4619870 rs754180504	181	Q>K		No	ClinGen ExAC gnomAD
CA370261007 rs1452745255	181	Q>R		No	ClinGen gnomAD
rs1415345154 CA370261019	183	S>C		No	ClinGen TOPMed
CA4619873 rs752920657	183	S>T		No	ClinGen ExAC gnomAD
rs868309686 CA171609668	184	D>N		No	ClinGen Ensembl
rs1472264758 CA370261038	186	C>G		No	ClinGen TOPMed
CA370261051 rs1312417440	188	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs374060224 CA4619875	188	S>I		No	ClinGen ESP ExAC gnomAD
rs1470435676 CA370261058	189	L>I		No	ClinGen TOPMed gnomAD
rs1470435676 CA370261059	189	L>V		No	ClinGen TOPMed gnomAD
rs1585203904 CA370261071	191	G>R		No	ClinGen Ensembl
rs1290710985 CA370261077	192	I>F		No	ClinGen TOPMed
rs751542382 CA4619877	194	Q>*		No	ClinGen ExAC gnomAD
CA4619907 rs765613666	195	D>G		No	ClinGen ExAC gnomAD
rs935601654 CA171611323	196	Q>E		No	ClinGen TOPMed gnomAD
rs1467965199 CA370261122	197	V>I		No	ClinGen TOPMed
rs763340789 CA4619909	198	D>G		No	ClinGen ExAC gnomAD
CA4619910 rs375717269	199	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA370261145 rs1361965059	200	A>G		No	ClinGen gnomAD
rs751797076 CA4619911	201	D>V		No	ClinGen ExAC TOPMed gnomAD
rs757349300 CA4619912	202	T>I		No	ClinGen ExAC TOPMed gnomAD
CA370261165 rs1563322287	203	F>L		No	ClinGen Ensembl
rs749812748 CA370261163	203	F>S		No	ClinGen Ensembl
rs749812748 CA171611382	203	F>Y		No	ClinGen Ensembl
rs1011053779 CA171611386	204	P>L		No	ClinGen TOPMed
COSM1102263 rs1239622887 CA370261175	205	Q>R	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1354510055 CA370261179	206	V>I		No	ClinGen TOPMed
rs1563322318	210	V>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1214423011 CA370261209	210	V>E		No	ClinGen gnomAD
rs1355794825 CA370261206	210	V>I		No	ClinGen TOPMed gnomAD
rs1355794825 CA370261208	210	V>L		No	ClinGen TOPMed gnomAD
rs767555461 CA370261215	211	I>N		No	ClinGen ExAC TOPMed
rs767555461 CA4619914	211	I>T		No	ClinGen ExAC TOPMed
rs750340555 CA4619915	212	D>E		No	ClinGen ExAC TOPMed gnomAD
CA370261228 rs1452025187	213	W>*		No	ClinGen gnomAD
rs756052538 CA4619916	213	W>C		No	ClinGen ExAC gnomAD
rs780160532 CA4619917	214	M>V		No	ClinGen ExAC gnomAD
rs1388923630 CA370261253	216	L>W		No	ClinGen TOPMed
rs1442059448 CA370261280	220	G>R		No	ClinGen gnomAD
rs149850300 CA4619921	221	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771579098 CA370261297	222	K>N		No	ClinGen ExAC gnomAD
rs945111720 CA171611407	223	Y>C		No	ClinGen TOPMed
CA4619923 rs772646229	225	Y>*		No	ClinGen ExAC gnomAD
rs1325697183 CA370261328	227	L>V		No	ClinGen gnomAD
CA4619924 rs746549298	231	G>C		No	ClinGen ExAC gnomAD
rs35398065 CA171612801	232	S>F		No	ClinGen Ensembl
rs1171572202 CA370261384	233	W>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs141237678 CA4619954	234	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs113760243 CA171612806	237	K>R		No	ClinGen Ensembl
rs776233381 CA4619956	238	F>L		No	ClinGen ExAC TOPMed gnomAD
rs772146781 CA4619957	239	L>F		No	ClinGen ExAC gnomAD
CA370261427 rs1403057225	239	L>W		No	ClinGen gnomAD
CA370261440 rs1332174698	241	I>N		No	ClinGen TOPMed gnomAD
CA4619959 rs376506896	242	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766625084 CA4619961	244	Q>E		No	ClinGen ExAC gnomAD
CA4619962 rs539445687	244	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759595393 CA4619963	245	L>V		No	ClinGen ExAC gnomAD
rs1202642956 CA370261471	246	S>G		No	ClinGen TOPMed gnomAD
rs77826393 CA4619966	246	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370261470 rs1202642956	246	S>R		No	ClinGen TOPMed gnomAD
CA171612833 rs77826393	246	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1485527617 CA370261478	247	R>K		No	ClinGen gnomAD
CA171612836 rs946865070	249	K>Q		No	ClinGen TOPMed gnomAD
CA4619968 rs777230141	249	K>R		No	ClinGen ExAC gnomAD
CA370261495 rs1192833608	250	Y>H		No	ClinGen gnomAD
CA370261503 rs1444470796	251	P>T		No	ClinGen TOPMed
rs1170670228 CA370261513	252	P>R		No	ClinGen gnomAD
CA171612841 rs375478914	254	A>T		No	ClinGen Ensembl
rs915605948 CA171612844	254	A>V		No	ClinGen Ensembl
CA4619972 rs749777490	255	K>N		No	ClinGen ExAC gnomAD
CA4619971 rs780716235	255	K>R		No	ClinGen ExAC gnomAD
CA370261556 rs1358434177	258	I>M		No	ClinGen gnomAD
CA370261558 rs1399007926	259	N>D		No	ClinGen TOPMed gnomAD
CA4619973 rs369290666	259	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1399007926 CA370261559	259	N>Y		No	ClinGen TOPMed gnomAD
rs779508149 CA4619974	260	I>V		No	ClinGen ExAC TOPMed gnomAD
rs759494595 CA171612857	261	R>Q		No	ClinGen gnomAD
rs748396027 CA4619975	261	R>W	Variant assessed as Somatic; 4.647e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1289583390 CA370261586	263	S>L		No	ClinGen TOPMed
CA370261598 rs1359934085	265	G>E		No	ClinGen TOPMed
rs772500409 CA4619977	266	N>S		No	ClinGen ExAC gnomAD
rs773294251 CA4619978	268	Y>C		No	ClinGen ExAC gnomAD
rs1487543483 CA370261625	269	K>E		No	ClinGen gnomAD
rs761024369 CA4619980	269	K>M		No	ClinGen ExAC TOPMed gnomAD
rs776802754 CA4619981	269	K>N		No	ClinGen ExAC gnomAD
rs761024369 CA4619979	269	K>R		No	ClinGen ExAC TOPMed gnomAD
rs757466032 CA171619365	270	V>F		No	ClinGen gnomAD
rs767093702 CA4620007	271	P>S		No	ClinGen ExAC gnomAD
CA171619370 rs956232445	272	R>G		No	ClinGen TOPMed
CA4620008 rs750092099	272	R>K		No	ClinGen ExAC TOPMed gnomAD
CA370261662 rs1480249575	273	S>N		No	ClinGen gnomAD
CA4620009 CA171619377 rs755609553	273	S>R		No	ClinGen ExAC gnomAD
rs765981802 CA4620010	275	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1423941129 CA370261681	276	K>N		No	ClinGen gnomAD
rs948971149 CA171619387	276	K>T		No	ClinGen TOPMed gnomAD
rs572969343 CA4620012	277	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA171619399 rs928678560	278	T>A		No	ClinGen TOPMed gnomAD
CA4620014 rs747309040	278	T>R		No	ClinGen ExAC gnomAD
CA4620015 rs757707302	279	I>T		No	ClinGen ExAC gnomAD
rs1236307547 CA370261692	279	I>V		No	ClinGen TOPMed
rs1381724633 CA370261709	281	L>H		No	ClinGen gnomAD
rs1443442863 CA370261707	281	L>V		No	ClinGen TOPMed
rs145840086 CA4620018	285	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4620017 rs145840086	285	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA370261735 rs1292849340	285	G>R		No	ClinGen gnomAD
rs145840086 CA171619408	285	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4620020 rs139762574	286	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372609431 CA4620021	286	M>T		No	ClinGen ESP ExAC TOPMed
CA4620019 rs139762574	286	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4620022 rs774279919	287	D>E		No	ClinGen ExAC gnomAD
CA4620023 rs375690423	289	D>N		No	ClinGen ESP ExAC gnomAD
CA4620025 rs772848272 COSM4138763	291	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4620024 rs767359685	291	R>W		No	ClinGen ExAC gnomAD
CA4620027 rs370575982	292	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA171619426 rs756064975	292	P>T		No	ClinGen Ensembl
CA370261782 rs753348302	293	H>L		No	ClinGen ExAC TOPMed gnomAD
CA4620028 rs753348302	293	H>R		No	ClinGen ExAC TOPMed gnomAD
CA4620029 rs758972657	294	C>G		No	ClinGen ExAC gnomAD
CA4620030 rs758972657	294	C>R		No	ClinGen ExAC gnomAD
rs889717935 CA171619436	296	L>F		No	ClinGen TOPMed
CA370261798 rs889717935	296	L>I		No	ClinGen TOPMed
CA370261807 rs1370252743	297	D>G		No	ClinGen TOPMed
CA370261815 rs1433280953	298	D>G		No	ClinGen gnomAD
rs1418151182 CA370261812	298	D>N		No	ClinGen gnomAD
rs1489847337 CA370261823	299	S>C		No	ClinGen TOPMed gnomAD
rs752168170 CA4620031	301	N>D		No	ClinGen ExAC gnomAD
CA370261847 rs1312618867	303	A>T		No	ClinGen gnomAD
CA4620033 rs781717951	304	R>*		No	ClinGen ExAC gnomAD
CA370261853 rs781717951	304	R>G		No	ClinGen ExAC gnomAD
rs781461046 CA4620034	304	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4620037 rs565090653	305	I>M		No	ClinGen 1000Genomes ExAC gnomAD
CA4620035 rs373909987	305	I>V		No	ClinGen ESP ExAC gnomAD
rs1345617728 CA370261866	306	A>V		No	ClinGen gnomAD
TCGA novel	306	A>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	307	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1006830889 CA370261873 COSM1316323	308	R>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA171619453 rs1006830889	308	R>G		No	ClinGen TOPMed gnomAD
rs749327249 CA370261875	308	R>L		No	ClinGen ExAC TOPMed gnomAD
rs749327249 CA4620038	308	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1213936135 CA370261884	309	M>I		No	ClinGen gnomAD
rs1429268901 CA370261881	309	M>R		No	ClinGen gnomAD
rs768633184 CA4620039	310	L>F		No	ClinGen ExAC gnomAD
CA370261889 rs1260187014	310	L>R		No	ClinGen TOPMed
TCGA novel	311	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1488499479 CA370261902	312	D>G		No	ClinGen gnomAD
rs1585236413 CA370261912	314	C>R		No	ClinGen Ensembl
CA370261915 rs1422494308	314	C>Y		No	ClinGen gnomAD
rs1453110883 CA370261929	316	L>F		No	ClinGen gnomAD
CA370261933 rs1180527728	316	L>R		No	ClinGen TOPMed
rs778812032 CA4620040	317	R>*		No	ClinGen ExAC TOPMed gnomAD
CA370261936 rs1421906941	317	R>P		No	ClinGen TOPMed gnomAD
rs1421906941 CA370261935	317	R>Q		No	ClinGen TOPMed gnomAD
CA4620041 rs748152223	318	I>L		No	ClinGen ExAC TOPMed gnomAD
rs771823289 CA4620042	318	I>M		No	ClinGen ExAC TOPMed gnomAD
rs748152223 CA370261938	318	I>V		No	ClinGen ExAC TOPMed gnomAD
CA370261949 rs201877141	319	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs188601499 CA4620044	320	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs146613945 TCGA novel CA171619471	321	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD
CA370261971 TCGA novel rs1350887894	322	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
rs1409056263 CA370261966	322	M>V		No	ClinGen TOPMed
CA171619474 rs999595563	323	H>L		No	ClinGen TOPMed gnomAD
rs776159574 CA4620046	324	A>T		No	ClinGen ExAC gnomAD
rs759072144 CA4620047	327	L>I		No	ClinGen ExAC gnomAD
rs768157663 CA4620051	328	M>I		No	ClinGen ExAC gnomAD
CA4620050 rs544932535	328	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA4620053 rs370716656	329	S>N		No	ClinGen ESP ExAC gnomAD
rs750781531 CA4620052	329	S>R		No	ClinGen ExAC gnomAD
rs754068610 CA4620055	332	S>C		No	ClinGen ExAC gnomAD
CA171619496 rs754068610	332	S>F		No	ClinGen ExAC gnomAD
CA4620056 rs141287911	333	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs779006285 CA4620057	336	I>V		No	ClinGen ExAC TOPMed gnomAD
CA370262058 rs990330331	337	E>*		No	ClinGen TOPMed
CA171619508 rs990330331	337	E>Q		No	ClinGen TOPMed
rs540348741 CA4620058	338	G>S		No	ClinGen ExAC TOPMed gnomAD
CA4620059 rs771949650	339	T>P		No	ClinGen ExAC gnomAD
rs1179270376 CA370262072	339	T>S		No	ClinGen TOPMed
CA370262075 rs1164343938	340	P>A		No	ClinGen gnomAD
rs777691019 CA4620060	340	P>L		No	ClinGen ExAC TOPMed gnomAD
CA370262086 rs1245746999	342	P>A		No	ClinGen TOPMed
rs770687269 CA4620062	342	P>R		No	ClinGen ExAC gnomAD
rs1245746999 CA370262087	342	P>S		No	ClinGen TOPMed
CA370262107 rs1379052294	345	P>S		No	ClinGen TOPMed gnomAD
rs759148289 CA4620065	348	R>G		No	ClinGen ExAC gnomAD
rs769403980 CA4620066	348	R>S		No	ClinGen ExAC gnomAD
CA856715886 rs1265622700	349	K>N		No	ClinGen TOPMed
rs61750798 CA4620068	349	K>N		No	ClinGen ExAC gnomAD
CA370262138 rs775086601	349	K>R		No	ClinGen ExAC TOPMed gnomAD
CA4620067 rs775086601	349	K>T		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q8IV48

3 regional properties for Q8IV48

Type	Name	Position	InterPro Accession
domain	SAP domain	76 - 110	IPR003034
domain	Exonuclease, RNase T/DNA polymerase III	129 - 315	IPR013520
domain	ERI-1-like, DEDDh 3'-5' exonuclease domain	130 - 310	IPR047201

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus Nucleus, nucleolus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
histone pre-mRNA 3'end processing complex	A ribonucleoprotein that binds to specific sites in, and is required for cleavage of, the 3'-end of histone pre-mRNAs. The complex contains the U7 snRNP and additional proteins, including the stem-loop binding protein (SLBP) and the exonuclease 3'hExo/Eri-1.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
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.

6 GO annotations of molecular function

Name	Definition
3'-5' exonuclease activity	Catalysis of the hydrolysis of ester linkages within nucleic acids by removing nucleotide residues from the 3' end.
3'-5'-exoribonuclease activity	Catalysis of the sequential cleavage of mononucleotides from a free 3' terminus of an RNA molecule.
histone pre-mRNA stem-loop binding	Binding to a conserved stem-loop structure found in histone pre-mRNAs.
metal ion binding	Binding to a metal ion.
ribosome binding	Binding to a ribosome.
rRNA binding	Binding to a ribosomal RNA.

3 GO annotations of biological process

Name	Definition
exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Exonucleolytic digestion of a pre-rRNA molecule to generate the mature 3'-end of a 5.8S rRNA molecule derived from an originally tricistronic pre-rRNA transcript that contained the Small Subunit (SSU) rRNA, the 5.8S rRNA, and the Large Subunit (LSU) rRNA in that order from 5' to 3' along the primary transcript.
gene silencing by RNA	A process in which an RNA molecule reduces expression of target genes. This can occur pre-transcriptionally by assembly of heterochromatin and prevention of transcription or co- or post-transcriptionally by targeting RNAs for degradation or by interfering with splicing or translation. This process starts once the inhibitory RNA molecule has been transcribed, and includes processing of the RNA such as cleavage, modifications, transport from the nucleus to the cytoplasm, loading onto the RISC complex, and the effect on transcription or translation.
rRNA 3'-end processing	Any process involved in forming the mature 3' end of an rRNA molecule.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q7TMF2	Eri1	3'-5' exoribonuclease 1	Mus musculus (Mouse)	PR
Q5FVR4	Eri1	3'-5' exoribonuclease 1	Rattus norvegicus (Rat)	PR
O44406	eri-1	3'-5' exonuclease eri-1	Caenorhabditis elegans	PR
Q8W566	At3g15140	Uncharacterized exonuclease domain-containing protein At3g15140	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MEDPQSKEPA	GEAVALALLE	SPRPEGGEEP	PRPSPEETQQ	CKFDGQETKG	SKFITSSASD
70	80	90	100	110	120
FSDPVYKEIA	ITNGCINRMS	KEELRAKLSE	FKLETRGVKD	VLKKRLKNYY	KKQKLMLKES
130	140	150	160	170	180
NFADSYYDYI	CIIDFEATCE	EGNPPEFVHE	IIEFPVVLLN	THTLEIEDTF	QQYVRPEINT
190	200	210	220	230	240
QLSDFCISLT	GITQDQVDRA	DTFPQVLKKV	IDWMKLKELG	TKYKYSLLTD	GSWDMSKFLN
250	260	270	280	290	300
IQCQLSRLKY	PPFAKKWINI	RKSYGNFYKV	PRSQTKLTIM	LEKLGMDYDG	RPHCGLDDSK
310	320	330	340
NIARIAVRML	QDGCELRINE	KMHAGQLMSV	SSSLPIEGTP	PPQMPHFRK