AiPD: Autoinhibited Protein Database

P39748

Gene name	FEN1
Protein name	Flap endonuclease 1
Names	FEN-1, DNase IV, Flap structure-specific endonuclease 1, Maturation factor 1, MF1, hFEN-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2237
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

64-148 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

64-148 (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

18 structures for P39748

Entry ID	Method	Resolution	Chain	Position	Source
1U7B	X-ray	188 A	B	331-350	PDB
1UL1	X-ray	290 A	X/Y/Z	2-380	PDB
3Q8K	X-ray	220 A	A	2-336	PDB
3Q8L	X-ray	232 A	A	2-336	PDB
3Q8M	X-ray	260 A	A/B	2-336	PDB
3UVU	X-ray	238 A	B	352-370	PDB
5E0V	X-ray	207 A	C/D	335-350	PDB
5FV7	X-ray	284 A	A/B	1-336	PDB
5K97	X-ray	210 A	A	2-336	PDB
5KSE	X-ray	210 A	A	2-336	PDB
5UM9	X-ray	281 A	A	2-336	PDB
5ZOD	X-ray	190 A	A	1-333	PDB
5ZOE	X-ray	195 A	A	1-333	PDB
5ZOF	X-ray	225 A	A	1-333	PDB
5ZOG	X-ray	230 A	A	1-333	PDB
6TNZ	EM	405 A	H	1-380	PDB
7QO1	EM	440 A	Y	1-380	PDB
AF-P39748-F1	Predicted				AlphaFoldDB

270 variants for P39748

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6038609 rs761359771	3	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6038610 rs771890165	4	Q>H		No	ClinGen ExAC gnomAD
CA380865869 rs1285693421	4	Q>R		No	ClinGen TOPMed
rs1442954685 CA380865905	7	A>T		No	ClinGen gnomAD
rs1371412552 CA380865923	8	K>Q		No	ClinGen TOPMed gnomAD
CA6038612 rs760566909	10	I>T		No	ClinGen ExAC gnomAD
CA380866011 rs1342986873	14	A>D		No	ClinGen Ensembl
rs1342986873 CA380866016	14	A>V		No	ClinGen Ensembl
CA6038613 rs766377130	16	S>R		No	ClinGen ExAC gnomAD
CA380866105 rs1208658926	19	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6038614 rs753721269	19	R>W		No	ClinGen ExAC TOPMed gnomAD
rs904014727 CA222947928	20	E>K		No	ClinGen TOPMed gnomAD
CA380866167 rs1437939126	23	I>S		No	ClinGen gnomAD
rs1300125593 CA380866185	24	K>R		No	ClinGen gnomAD
CA380866182 rs1300125593	24	K>T		No	ClinGen gnomAD
CA6038615 rs759600121	25	S>N		No	ClinGen ExAC gnomAD
rs765213906 CA6038616	26	Y>C		No	ClinGen ExAC gnomAD
rs1379328024 CA380866248	28	G>D		No	ClinGen TOPMed
rs752884600 CA6038618	28	G>S		No	ClinGen ExAC gnomAD
CA6038620 rs764353660	29	R>C		No	ClinGen ExAC gnomAD
CA6038621 rs751874785	29	R>H		No	ClinGen ExAC TOPMed gnomAD
rs751874785 CA380866264	29	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1032766776 CA222947967	33	I>V		No	ClinGen TOPMed
rs899549369 CA222947968	35	A>V		No	ClinGen TOPMed gnomAD
rs781676618 CA6038623	38	S>N		No	ClinGen ExAC gnomAD
rs781676618 CA380866357	38	S>T		No	ClinGen ExAC gnomAD
CA6038624 rs746376478	41	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs756703191 CA6038625	47	R>C		No	ClinGen ExAC TOPMed gnomAD
rs140458864 CA6038626	47	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140458864 CA6038627	47	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6038628 rs771800022	48	Q>*		No	ClinGen ExAC gnomAD
rs773029413 CA6038629	48	Q>P		No	ClinGen ExAC gnomAD
rs746730684 CA6038630	49	G>A		No	ClinGen ExAC gnomAD
rs1262747985 CA380866431	50	G>E		No	ClinGen TOPMed
CA6038632 rs776543195	50	G>R		No	ClinGen ExAC gnomAD
CA6038634 rs765263498	54	Q>K		No	ClinGen ExAC gnomAD
rs1336211233 CA380866467	55	N>K		No	ClinGen gnomAD
rs1213942198 CA380866470	56	E>*		No	ClinGen gnomAD
rs775415268 CA6038635	59	E>K		No	ClinGen ExAC gnomAD
CA380866497 TCGA novel rs1591146151	60	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen Ensembl
CA380866551 rs1244378964	64	L>M		No	ClinGen gnomAD
rs373582072 CA222948035	65	M>V		No	ClinGen Ensembl
rs374732129 CA6038638	67	M>I		No	ClinGen ESP ExAC gnomAD
rs764263966 CA6038637	67	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1264740445 CA380866633	69	Y>C		No	ClinGen TOPMed gnomAD
CA6038639 rs202006260	70	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767759900 CA380866650	70	R>L		No	ClinGen ExAC gnomAD
rs767759900 CA6038640	70	R>P		No	ClinGen ExAC gnomAD
CA6038642 rs756555908	72	I>T		No	ClinGen ExAC gnomAD
rs145709748 COSM3809763 CA6038643	73	R>C	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs145287449 CA6038644	73	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1429943372 CA380866695	74	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	76	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770679611 CA380866840	82	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6038648 rs770679611	82	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1272194166 CA380866857	83	Y>F		No	ClinGen gnomAD
rs1173072900 CA380866879	84	V>A		No	ClinGen gnomAD
rs1292756975 CA380866867	84	V>I		No	ClinGen TOPMed
CA380866913 rs1208499576	86	D>E		No	ClinGen gnomAD
CA6038651 rs769573710	87	G>C		No	ClinGen ExAC gnomAD
rs1447886863 CA380866920	87	G>D		No	ClinGen gnomAD
rs1351558940 CA380866961	90	P>S		No	ClinGen TOPMed
rs1424298787 CA380867047	96	E>D		No	ClinGen gnomAD
rs774473787 CA6038655	98	A>V		No	ClinGen ExAC gnomAD
CA380867085 rs1417486527	100	R>C		No	ClinGen gnomAD
rs1412724264 CA380867100	101	S>T		No	ClinGen gnomAD
CA6038656 rs762018999	103	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA380867123 rs1464197025	103	R>W		No	ClinGen TOPMed
rs750703675 CA6038658	104	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs767828296 CA6038657	104	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6038660 rs766728314	105	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1414916308 CA380867147	105	A>V		No	ClinGen gnomAD
CA6038661 rs754406395	107	A>S		No	ClinGen ExAC TOPMed
rs777413094 CA6038663	108	E>A		No	ClinGen ExAC gnomAD
rs371381466 CA6038664	113	Q>*		No	ClinGen ESP ExAC gnomAD
CA222948262 rs945654836	114	A>S		No	ClinGen TOPMed
rs780924065 CA6038666	115	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA6038665 rs756841522	115	Q>R		No	ClinGen ExAC gnomAD
CA380867286 rs1204886974	116	A>V		No	ClinGen gnomAD
rs1284567207 CA380867288	117	A>P		No	ClinGen TOPMed gnomAD
rs1284567207 CA380867289	117	A>S		No	ClinGen TOPMed gnomAD
CA6038670 rs374555458	120	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA380867321 rs1310094151	122	E>Q		No	ClinGen TOPMed
CA380867328 rs1300262181	123	V>M		No	ClinGen TOPMed
rs542212412 CA6038673	129	R>Q		No	ClinGen ExAC gnomAD
rs774384229 CA6038672	129	R>W		No	ClinGen ExAC gnomAD
CA380867375 rs1469471981	130	L>M		No	ClinGen gnomAD
rs760889294 CA6038676	131	V>G		No	ClinGen ExAC gnomAD
rs773486731 CA6038675	131	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1184364525 CA380867391	132	K>N		No	ClinGen Ensembl
CA380867397 rs1591146252	133	V>G		No	ClinGen Ensembl
CA380867400 rs1435270808	134	T>P		No	ClinGen gnomAD
CA380867407 rs766834617	135	K>R		No	ClinGen ExAC gnomAD
CA6038677 rs766834617	135	K>T		No	ClinGen ExAC gnomAD
rs1444627315 CA380867417	136	Q>H		No	ClinGen TOPMed
CA380867415 rs1329297011	136	Q>R		No	ClinGen TOPMed
CA6038678 CA6038679 rs754318423	138	N>K		No	ClinGen ExAC TOPMed gnomAD
CA380867431 rs1399468952	138	N>S		No	ClinGen gnomAD
CA6038680 rs765890483	139	D>E		No	ClinGen ExAC gnomAD
rs529767500 CA6038681	141	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371928542 CA6038682	142	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs780645501 CA6038683	143	H>R		No	ClinGen ExAC gnomAD
rs755782253 CA6038685	145	L>Q		No	ClinGen ExAC gnomAD
CA6038686 rs779822359	146	S>T		No	ClinGen ExAC gnomAD
CA222948321 rs1039192806	147	L>H		No	ClinGen TOPMed
CA380867502 rs1197593774	149	G>D		No	ClinGen gnomAD
CA222948322 rs11541090	151	P>L		No	ClinGen Ensembl
rs1437446180 CA380867544	155	A>V		No	ClinGen gnomAD
rs768560253 CA6038688	156	P>A		No	ClinGen ExAC TOPMed gnomAD
rs768560253 CA380867546	156	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6038689 rs778852873	159	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1591146303 CA380867607	165	A>T		No	ClinGen Ensembl
rs760943389 CA6038693	169	A>S		No	ClinGen ExAC gnomAD
CA6038694 rs771315924	171	K>I		No	ClinGen ExAC gnomAD
CA380867656 rs1444127309	173	Y>D		No	ClinGen TOPMed gnomAD
rs532021925 CA6038695	175	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765802805 CA6038697	176	A>V		No	ClinGen ExAC gnomAD
CA380867681 rs1565315707	177	T>A		No	ClinGen Ensembl
CA6038698 rs552145732	177	T>N		No	ClinGen 1000Genomes ExAC gnomAD
CA6038699 rs144781972	178	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA380867686 rs144781972	178	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA380867706 rs1306950248	180	M>I		No	ClinGen TOPMed
rs1251959751 CA380867701	180	M>V		No	ClinGen gnomAD
CA380867722 rs1197013504	182	C>F		No	ClinGen gnomAD
CA6038701 rs749967877	184	T>S		No	ClinGen ExAC TOPMed gnomAD
CA6038702 rs755763272	186	G>S		No	ClinGen ExAC gnomAD
CA380867753 rs1265253316	187	S>T		No	ClinGen gnomAD
CA6038703 rs766070774	189	V>L		No	ClinGen ExAC gnomAD
rs774159619 CA222948374	190	L>P		No	ClinGen Ensembl
CA6038704 rs753589075	190	L>V		No	ClinGen ExAC TOPMed gnomAD
CA380867774 rs754770893	191	M>R		No	ClinGen ExAC TOPMed gnomAD
CA6038705 rs754770893	191	M>T		No	ClinGen ExAC TOPMed gnomAD
CA380867780 rs1302549783	192	R>*		No	ClinGen TOPMed
CA6038706 rs778764875	192	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1591146365 CA380867786	193	H>P		No	ClinGen Ensembl
CA380867789 rs1394726261	193	H>Q		No	ClinGen gnomAD
rs1293287618 CA380867804	196	A>T		No	ClinGen TOPMed gnomAD
rs1565315743 CA380867806	196	A>V		No	ClinGen Ensembl
CA380867826 rs1419567262	199	A>T		No	ClinGen TOPMed
CA380867842 rs1381476547	201	K>R		No	ClinGen TOPMed
TCGA novel	201	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777028114 CA6038712	211	R>Q		No	ClinGen ExAC gnomAD
CA380867910 rs1216844828	211	R>W		No	ClinGen gnomAD
rs1421604696 CA380867946	214	Q>H		No	ClinGen TOPMed
rs1335710891 CA380867940	214	Q>R		No	ClinGen gnomAD
CA380867951 rs746170099	215	E>*		No	ClinGen ExAC TOPMed gnomAD
rs746170099 CA6038713	215	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1565315766 CA380868003	219	N>K		No	ClinGen Ensembl
rs1418929101 CA380868009	220	Q>R		No	ClinGen Ensembl
rs770299892 CA6038714	225	D>Y		No	ClinGen ExAC gnomAD
CA380868084 rs1187059096	226	L>V		No	ClinGen gnomAD
CA6038715 rs775779348	228	I>L		No	ClinGen ExAC TOPMed gnomAD
CA6038716 rs775779348	228	I>V		No	ClinGen ExAC TOPMed gnomAD
CA380868151 rs1565315778	232	S>T		No	ClinGen Ensembl
rs764549465 CA6038717	235	C>S		No	ClinGen ExAC gnomAD
rs1426764580 CA380868200	236	E>G		No	ClinGen Ensembl
rs772757950 CA6038718	236	E>K		No	ClinGen ExAC gnomAD
CA222948498 rs528371679	238	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199499938 CA380868221	239	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs199499938 CA6038720	239	R>Q	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA380868219 rs1460589167	239	R>W		No	ClinGen TOPMed gnomAD
rs754683010 CA6038722	244	K>R		No	ClinGen ExAC gnomAD
CA6038726 rs777591250	245	R>L		No	ClinGen ExAC gnomAD
TCGA novel	245	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200397900 CA6038724	245	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA380868263 rs1312132270	246	A>T		No	ClinGen TOPMed
CA380868296 rs1415571176	248	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	248	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1393063419 CA380868358	253	H>P		No	ClinGen gnomAD
CA380868373 rs1356098864	254	K>R		No	ClinGen gnomAD
rs757420433 CA6038728	257	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1318533237 CA380868426	257	E>D		No	ClinGen gnomAD
rs757420433 CA222948552	257	E>K		No	ClinGen ExAC TOPMed gnomAD
rs141868713 CA6038729	259	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371695318 CA6038730	260	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs775893236 CA6038732	261	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs770209728 CA6038731	261	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs749666139 CA6038733	262	R>*		No	ClinGen ExAC gnomAD
CA6038734 rs769159675	262	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6038735 rs148519764	263	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA222948621 rs922082825	264	D>N		No	ClinGen TOPMed
rs1179788168 CA380868513	266	N>H		No	ClinGen gnomAD
rs760118285 CA6038736	266	N>S		No	ClinGen ExAC gnomAD
CA6038737 rs770414602	267	K>Q		No	ClinGen ExAC gnomAD
CA380868535 rs1160272664	268	Y>D		No	ClinGen TOPMed gnomAD
CA380868534 rs1160272664	268	Y>H		No	ClinGen TOPMed gnomAD
CA380868543 rs1488529887	269	P>A		No	ClinGen TOPMed
CA6038738 rs138109450	269	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA222948639 rs865811809	271	P>S		No	ClinGen Ensembl
rs1315289001 CA380868569	273	N>S		No	ClinGen gnomAD
CA6038739 rs759153619	274	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1447331543 CA380868583	275	L>F		No	ClinGen gnomAD
CA222948658 rs748969364	276	H>Y		No	ClinGen TOPMed
rs752485852 CA6038741	277	K>E		No	ClinGen ExAC gnomAD
CA6038744 rs557497901	280	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs764028854 CA6038743	280	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1236422237 CA380868622	281	Q>E		No	ClinGen gnomAD
rs1233981826 CA380868631	282	L>F		No	ClinGen TOPMed
CA380868646 rs1276617464	284	L>S		No	ClinGen TOPMed
rs750436847 CA222948680	286	P>A		No	ClinGen TOPMed gnomAD
TCGA novel	286	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6038747 rs757326491	286	P>R		No	ClinGen ExAC gnomAD
rs1234311718 CA380868667	287	E>V		No	ClinGen gnomAD
rs781421590 CA6038748	288	V>A		No	ClinGen ExAC gnomAD
CA222948700 rs369023056	288	V>M		No	ClinGen ESP TOPMed
CA380868676 rs1385555128	289	L>Q		No	ClinGen TOPMed
rs186164169 CA6038749	290	D>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1173228789 CA380868696	292	E>V		No	ClinGen TOPMed
CA380868715 rs1210118162	295	E>A		No	ClinGen gnomAD
rs780164160 CA6038751	297	K>N		No	ClinGen ExAC gnomAD
rs749625547 CA6038752	299	S>N		No	ClinGen ExAC TOPMed gnomAD
CA6038753 rs188983237	300	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6038754 rs188983237	300	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1174021019 CA380868758	301	P>R		No	ClinGen gnomAD
TCGA novel	302	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380868793 rs748648821	306	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6038756 rs772603170	307	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1304135383 CA380868817	309	F>L		No	ClinGen gnomAD
CA6038758 rs759067341	309	F>V		No	ClinGen ExAC gnomAD
rs1344202031 CA380868827	311	C>S		No	ClinGen gnomAD
rs769444109 CA6038759	314	K>E		No	ClinGen ExAC gnomAD
rs199498803 CA6038760	316	F>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380868875 rs1268047337	317	S>C		No	ClinGen TOPMed
rs762754689 CA6038761	318	E>Q		No	ClinGen ExAC gnomAD
rs751470906 COSM929521 CA6038764	320	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA380868893 rs1565315915	320	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs765400166 CA222948753	321	I>M		No	ClinGen TOPMed
CA6038765 rs141650861	321	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs202130520 CA6038766	322	R>C		No	ClinGen ExAC TOPMed gnomAD
rs756180049 CA6038767	322	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA380868917 rs1340359623	324	G>V		No	ClinGen TOPMed
CA6038769 rs780263785	325	V>A		No	ClinGen ExAC gnomAD
rs1272223084 CA380868934	327	R>K		No	ClinGen TOPMed
TCGA novel	329	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	330	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753991316 CA6038770	331	S>T		No	ClinGen ExAC gnomAD
rs755294689 CA6038771	332	R>C		No	ClinGen ExAC gnomAD
CA6038772 rs371918257	332	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6038773 rs371918257	332	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1398351987 CA380868978	334	G>S		No	ClinGen gnomAD
rs772515013 CA6038774	336	T>A		No	ClinGen ExAC gnomAD
CA380869002 rs1179700751	337	Q>H		No	ClinGen gnomAD
CA222948798 rs1013335904	337	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6038775 rs758718503	339	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1355266 rs573495657 CA6038776	339	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA380869023 rs1410121025	341	D>G		No	ClinGen TOPMed
rs1271811640 CA380869031	342	D>G		No	ClinGen gnomAD
rs1355597557 CA380869056	345	K>R		No	ClinGen TOPMed
rs1255810639 CA380869062	346	V>A		No	ClinGen gnomAD
CA6038777 rs542490356	346	V>M		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	348	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150508629 CA6038779	348	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6038780 rs768399301	349	S>L		No	ClinGen ExAC gnomAD
rs774266785 CA6038781	351	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1437773582 CA380869099	353	A>P		No	ClinGen TOPMed
rs1193025547 CA380869113	355	R>C		No	ClinGen gnomAD
rs761723999 CA6038782	355	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6038783 rs767523831	356	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	356	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773287912 CA6038784	356	K>R		No	ClinGen ExAC gnomAD
rs1803573 CA222948884	357	E>D		No	ClinGen Ensembl
TCGA novel	357	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370181656 CA6038785	358	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1320250237 CA380869145	360	P>S		No	ClinGen gnomAD
CA6038787 rs753989476	362	G>R		No	ClinGen ExAC gnomAD
rs138459213 CA6038788	364	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs765464647 CA6038790	368	A>T		No	ClinGen ExAC TOPMed gnomAD
CA380869231 rs1283187869	373	A>T		No	ClinGen gnomAD
rs7931165 CA222948912	376	F>L		No	ClinGen Ensembl
CA380869281 rs1356130035	380	K>R		No	ClinGen gnomAD

No associated diseases with P39748

5 regional properties for P39748

Type	Name	Position	InterPro Accession
domain	XPG, N-terminal	1 - 107	IPR006085
domain	XPG-I domain	146 - 233	IPR006086
conserved_site	Helix-hairpin-helix motif, class 2	220 - 253	IPR008918
conserved_site	XPG conserved site	79 - 93	IPR019974-1
conserved_site	XPG conserved site	149 - 163	IPR019974-2

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Nucleus, nucleolus Nucleus, nucleoplasm	Resides mostly in the nucleoli and relocalizes to the nucleoplasm upon DNA damage
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
chromosome, telomeric region	The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.
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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

12 GO annotations of molecular function

Name	Definition
5'-3' exonuclease activity	Catalysis of the hydrolysis of ester linkages within nucleic acids by removing nucleotide residues from the 5' end.
5'-flap endonuclease activity	Catalysis of the cleavage of a 5' flap structure in DNA, but not other DNA structures; processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis.
damaged DNA binding	Binding to damaged DNA.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
double-stranded DNA binding	Binding to double-stranded DNA.
double-stranded DNA exodeoxyribonuclease activity	Catalysis of the sequential cleavage of mononucleotides from a free 5' or 3' terminus of a double-stranded DNA molecule.
endonuclease activity	Catalysis of the hydrolysis of ester linkages within nucleic acids by creating internal breaks.
exonuclease activity	Catalysis of the hydrolysis of ester linkages within nucleic acids by removing nucleotide residues from the 3' or 5' end.
flap endonuclease activity	Catalysis of the cleavage of a flap structure in DNA, but not other DNA structures; processes the ends of Okazaki fragments in lagging strand DNA synthesis.
magnesium ion binding	Binding to a magnesium (Mg) ion.
manganese ion binding	Binding to a manganese ion (Mn).
RNA-DNA hybrid ribonuclease activity	Catalysis of the endonucleolytic cleavage of RNA in RNA-DNA hybrids to 5'-phosphomonoesters.

11 GO annotations of biological process

Name	Definition
base-excision repair, gap-filling	Repair of the damaged strand by the combined action of an apurinic endouclease that degrades a few bases on the damaged strand and a polymerase that synthesizes a 'patch' in the 5' to 3' direction, using the undamaged strand as a template.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
DNA replication	The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA.
DNA replication, removal of RNA primer	Removal of the Okazaki RNA primer from the lagging strand of replicating DNA, by a combination of the actions of DNA polymerase, DNA helicase and an endonuclease.
double-strand break repair	The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix.
double-strand break repair via homologous recombination	The error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. A strand in the broken DNA searches for a homologous region in an intact chromosome to serve as the template for DNA synthesis. The restoration of two intact DNA molecules results in the exchange, reciprocal or nonreciprocal, of genetic material between the intact DNA molecule and the broken DNA molecule.
memory	The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task).
nucleic acid phosphodiester bond hydrolysis	The nucleic acid metabolic process in which the phosphodiester bonds between nucleotides are cleaved by hydrolysis.
positive regulation of sister chromatid cohesion	Any process that activates or increases the frequency, rate or extent of sister chromatid cohesion.
telomere maintenance via semi-conservative replication	The process in which telomeric DNA is synthesized semi-conservatively by the conventional replication machinery and telomeric accessory factors as part of cell cycle DNA replication.
UV protection	Any process in which an organism or cell protects itself from ultraviolet radiation (UV), which may also result in resistance to repeated exposure to UV.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q58DH8	FEN1	Flap endonuclease 1	Bos taurus (Bovine)	PR
Q5ZLN4	FEN1	Flap endonuclease 1	Gallus gallus (Chicken)	PR
Q9VRJ0	Gen	Flap endonuclease GEN	Drosophila melanogaster (Fruit fly)	PR
Q9UQ84	EXO1	Exonuclease 1	Homo sapiens (Human)	EV
Q5XIP6	Fen1	Flap endonuclease 1	Rattus norvegicus (Rat)	PR
Q75LI2	FEN1B	Flap endonuclease 1-B	Oryza sativa subsp japonica (Rice)	PR
Q9SXQ6	FEN1A	Flap endonuclease 1-A	Oryza sativa subsp japonica (Rice)	PR
C5YUK3	FEN1-A	Flap endonuclease 1-A	Sorghum bicolor (Sorghum) (Sorghum vulgare)	PR
Q9M2Z3	SEND1	Single-strand DNA endonuclease 1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MGIQGLAKLI	ADVAPSAIRE	NDIKSYFGRK	VAIDASMSIY	QFLIAVRQGG	DVLQNEEGET
70	80	90	100	110	120
TSHLMGMFYR	TIRMMENGIK	PVYVFDGKPP	QLKSGELAKR	SERRAEAEKQ	LQQAQAAGAE
130	140	150	160	170	180
QEVEKFTKRL	VKVTKQHNDE	CKHLLSLMGI	PYLDAPSEAE	ASCAALVKAG	KVYAAATEDM
190	200	210	220	230	240
DCLTFGSPVL	MRHLTASEAK	KLPIQEFHLS	RILQELGLNQ	EQFVDLCILL	GSDYCESIRG
250	260	270	280	290	300
IGPKRAVDLI	QKHKSIEEIV	RRLDPNKYPV	PENWLHKEAH	QLFLEPEVLD	PESVELKWSE
310	320	330	340	350	360
PNEEELIKFM	CGEKQFSEER	IRSGVKRLSK	SRQGSTQGRL	DDFFKVTGSL	SSAKRKEPEP
370
KGSTKKKAKT	GAAGKFKRGK