AiPD: Autoinhibited Protein Database

P40938

Gene name	RFC3
Protein name	Replication factor C subunit 3
Names	Activator 1 38 kDa subunit, A1 38 kDa subunit, Activator 1 subunit 3, Replication factor C 38 kDa subunit, RF-C 38 kDa subunit, RFC38
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5983
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

83-153 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

83-153 (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

3 structures for P40938

Entry ID	Method	Resolution	Chain	Position	Source
6VVO	EM	340 A	E	1-356	PDB
7Z6H	EM	359 A	E	1-356	PDB
AF-P40938-F1	Predicted				AlphaFoldDB

289 variants for P40938

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6945547 rs769916582	2	S>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6945548 rs769916582	2	S>N		No	ClinGen ExAC gnomAD
CA6945549 rs147166048	2	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA248061688 rs927280915	3	L>F		No	ClinGen TOPMed gnomAD
rs1188512263 CA387805578	5	V>L		No	ClinGen gnomAD
rs376501033 CA6945551	6	D>H		No	ClinGen ESP ExAC gnomAD
rs376501033 CA6945552	6	D>N		No	ClinGen ESP ExAC gnomAD
CA387805589 rs1377321445	7	K>E		No	ClinGen TOPMed gnomAD
CA6945554 rs777039237	7	K>N		No	ClinGen ExAC gnomAD
rs1398928860 CA387805591	7	K>T		No	ClinGen gnomAD
rs760034304 CA6945555	9	R>G		No	ClinGen ExAC gnomAD
CA6945558 rs762554467	10	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752098925 CA6945557	10	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1281908977 CA387805615	11	C>S		No	ClinGen gnomAD
rs1203964059 CA387805622	12	S>C		No	ClinGen TOPMed gnomAD
CA6945559 rs763552185	12	S>P		No	ClinGen ExAC TOPMed gnomAD
CA6945560 rs140507898	14	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs900407577 CA248061731	14	G>R		No	ClinGen TOPMed
rs140507898 CA248061744	14	G>V		No	ClinGen ESP ExAC gnomAD
rs1339877208 CA387805634 COSM3356391 COSM3356392	15	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs3135533 VAR_018750 CA6945561	16	L>V		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs781125577 CA6945563	18	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA6945564 rs750246024	19	H>D		No	ClinGen ExAC gnomAD
CA6945566 rs570937436	19	H>P		No	ClinGen 1000Genomes ExAC gnomAD
CA6945565 rs570937436	19	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA248061784 rs1004994421	20	K>*		No	ClinGen Ensembl
rs200516496 CA248061790	20	K>N		No	ClinGen gnomAD
rs994805798 CA248061794	21	E>Q		No	ClinGen TOPMed
rs772163574 CA6945568	22	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA6945567 rs576857924	22	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
CA6945569 rs777765038	23	A>S		No	ClinGen ExAC gnomAD
rs777765038 CA387805682	23	A>T		No	ClinGen ExAC gnomAD
CA387805686 rs1195602735	23	A>V		No	ClinGen TOPMed
CA6945570 rs747242551	24	A>V		No	ClinGen ExAC TOPMed gnomAD
rs776916714 CA6945572	25	Q>*		No	ClinGen ExAC gnomAD
CA387805700 rs1198371426	26	L>V		No	ClinGen TOPMed gnomAD
CA6945574 rs770245095	27	R>P		No	ClinGen ExAC gnomAD
CA387805706 rs770245095	27	R>Q		No	ClinGen ExAC gnomAD
rs1475426667 CA387805736	30	V>G		No	ClinGen gnomAD
CA387805742 rs1566375417	31	Q>R		No	ClinGen Ensembl
rs145640369 CA248064762	32	C>R		No	ClinGen ESP TOPMed
rs112861644 CA248064782	33	G>D		No	ClinGen Ensembl
CA248064774 rs977884095	33	G>S		No	ClinGen Ensembl
CA6945596 rs575093614	35	F>S		No	ClinGen 1000Genomes ExAC gnomAD
CA248064791 rs958194982	36	P>A		No	ClinGen Ensembl
rs770120577 CA6945597	37	H>L		No	ClinGen ExAC gnomAD
rs1398090879 CA387805783	37	H>Q		No	ClinGen gnomAD
rs775775278 CA6945598	40	V>A		No	ClinGen ExAC gnomAD
rs368110610 CA248064800	40	V>L		No	ClinGen ESP TOPMed
rs1355326481 CA387805802	41	Y>D		No	ClinGen gnomAD
CA387805803 rs1205901860	41	Y>S		No	ClinGen TOPMed
COSM1727655 CA6945600 rs769043955 COSM1727654	42	G>R	liver Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA387805815 rs1325039726	43	P>S		No	ClinGen gnomAD
CA387805823 rs1566375516	44	S>L		No	ClinGen Ensembl
rs761428256 CA6945602	47	G>R		No	ClinGen ExAC gnomAD
CA387805846 rs1208759715	48	K>R		No	ClinGen gnomAD
CA6945603 rs767241406	49	K>E		No	ClinGen ExAC gnomAD
rs772970576 CA6945604	50	T>A		No	ClinGen ExAC gnomAD
rs1259467616 CA387805881	53	M>K		No	ClinGen gnomAD
CA248064823 rs199540806	54	C>*		No	ClinGen 1000Genomes
rs755299179 CA248064831	55	I>L		No	ClinGen gnomAD
rs755299179 CA387805893	55	I>V		No	ClinGen gnomAD
rs372320843 CA6945606	57	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs766187366 CA6945607	57	R>H		No	ClinGen ExAC gnomAD
rs916535031 CA248064840	58	E>G		No	ClinGen TOPMed gnomAD
CA6945608 rs377157774	60	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA387805921 rs1432349695	60	Y>H		No	ClinGen gnomAD
CA6945610 rs148474405	62	V>A		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs754878997 CA6945609	62	V>I		No	ClinGen ExAC gnomAD
TCGA novel	66	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1309998570 CA387805981	69	I>V		No	ClinGen Ensembl
rs547869381 CA387805990	70	E>G		No	ClinGen ExAC TOPMed gnomAD
rs547869381 CA6945614	70	E>V		No	ClinGen ExAC TOPMed gnomAD
CA6945616 rs780396502	71	H>R		No	ClinGen ExAC gnomAD
rs756353734 CA6945615	71	H>Y		No	ClinGen ExAC gnomAD
CA6945617 rs749625647	72	Q>H		No	ClinGen ExAC gnomAD
CA6945618 rs769155654	73	T>S		No	ClinGen ExAC TOPMed gnomAD
CA387806008 rs1348669486	73	T>S		No	ClinGen gnomAD
rs1258821281 CA387806011	74	I>F		No	ClinGen gnomAD
CA387806017 rs1485428571	74	I>M		No	ClinGen gnomAD
rs774754651 CA6945619	75	T>A		No	ClinGen ExAC gnomAD
CA6945620 rs748707282	75	T>I		No	ClinGen ExAC gnomAD
CA387806040 rs1330324725	76	T>N		No	ClinGen TOPMed
rs1270332019 CA387806045	77	P>R		No	ClinGen TOPMed
CA6945643 rs777352339	78	S>F		No	ClinGen ExAC gnomAD
CA6945648 COSM1223579 rs201988563 COSM1223578	81	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC
rs746532271 CA6945647	81	K>T		No	ClinGen ExAC TOPMed gnomAD
rs753959887	82	I>L	Variant assessed as Somatic; 0.001835 impact. [NCI-TCGA]	No	NCI-TCGA
CA6945650 rs759281073	82	I>M		No	ClinGen ExAC gnomAD
CA6945649 rs776114523	82	I>N		No	ClinGen ExAC gnomAD
rs1380239994 CA387806097	85	S>N		No	ClinGen Ensembl
CA387806107 rs1296562941	86	T>I		No	ClinGen gnomAD
rs769462598 CA6945651	87	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1410413943 CA387806109	87	I>V		No	ClinGen gnomAD
CA6945652 rs775330543	88	A>T		No	ClinGen ExAC TOPMed gnomAD
rs762806097 CA6945653	90	N>K		No	ClinGen ExAC gnomAD
rs764028360 CA6945654	92	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	94	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1318523948 CA387806163	95	V>I		No	ClinGen TOPMed
CA387806204 rs1365422670	99	D>G		No	ClinGen gnomAD
rs766357814 CA6945675	99	D>Y		No	ClinGen ExAC gnomAD
CA248067266 rs1021610136	100	A>G		No	ClinGen TOPMed gnomAD
CA387806212 rs1021610136	100	A>V		No	ClinGen TOPMed gnomAD
CA387806230 rs1230118990	103	S>N		No	ClinGen gnomAD
rs905108387 CA248067272	103	S>R		No	ClinGen TOPMed gnomAD
rs142666536 CA6945676	105	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs146557081 CA387806244	105	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs146557081 CA6945677	105	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	106	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6945678 rs765573283	109	Q>*		No	ClinGen ExAC gnomAD
rs1214047069 CA387806285	111	M>I		No	ClinGen TOPMed gnomAD
CA6945679 rs753065474	114	T>A		No	ClinGen ExAC
CA6945680 rs758867827	115	V>A		No	ClinGen ExAC gnomAD
rs1353909938 CA387806317	116	A>G		No	ClinGen TOPMed
TCGA novel	116	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764599802 CA6945681	117	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	118	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751994599 CA6945682	119	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs373162634 CA6945684	124	N>D		No	ClinGen ESP ExAC gnomAD
rs1555307454 CA6945685	124	N>S		No	ClinGen Ensembl
rs145079951 CA6945687	126	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387806391 rs1317426422	127	R>S		No	ClinGen gnomAD
rs755713886 CA6945688	128	D>N		No	ClinGen ExAC gnomAD
rs888729206 CA248069780	133	L>S		No	ClinGen TOPMed
TCGA novel	136	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757642535 CA6945707	137	V>A		No	ClinGen ExAC TOPMed gnomAD
CA387806471 rs1271538262	138	D>N		No	ClinGen gnomAD
rs200751265 CA387806485	139	K>N		No	ClinGen 1000Genomes gnomAD
CA6945708 rs768090866	139	K>R		No	ClinGen ExAC gnomAD
COSM1188695 COSM1188694 rs779586709 CA6945711	142	K>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6945712 rs748928589	143	D>E		No	ClinGen ExAC gnomAD
rs1181367191 CA387806538	147	A>V		No	ClinGen gnomAD
CA6945713 rs754693463	148	L>V		No	ClinGen ExAC gnomAD
CA387806547 rs1473470348	149	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA248069876 rs766615656	150	R>T		No	ClinGen Ensembl
CA387806568 rs1593613902	152	M>I		No	ClinGen Ensembl
CA6945714 rs778506103	152	M>L		No	ClinGen ExAC gnomAD
CA387806563 rs778506103	152	M>V		No	ClinGen ExAC gnomAD
CA387806601 rs1266480608	156	M>I		No	ClinGen gnomAD
rs1458151203 CA387806599	156	M>T		No	ClinGen gnomAD
CA6945716 rs747989879	157	S>C		No	ClinGen ExAC gnomAD
rs1004212713 CA387806619	159	C>F		No	ClinGen TOPMed gnomAD
rs1004212713 CA248069900	159	C>Y		No	ClinGen TOPMed gnomAD
rs771860264 CA6945717	160	R>G		No	ClinGen ExAC gnomAD
CA248069915 rs200284443	165	C>*		No	ClinGen TOPMed gnomAD
CA6945719 rs746986072	167	S>P		No	ClinGen ExAC gnomAD
CA6945720 rs769978103	168	T>A		No	ClinGen ExAC TOPMed gnomAD
CA387806687 COSM1188696 rs1267382436 COSM1188697	169	S>F	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6945721 rs775775880	171	V>M		No	ClinGen ExAC
CA6945723 rs557799031	176	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6945724 rs774529987	176	R>H		No	ClinGen ExAC gnomAD
rs762268534 CA6945725	181	A>V		No	ClinGen ExAC gnomAD
rs1424108497 CA387806769	182	V>D		No	ClinGen gnomAD
rs750917677 CA6945727	183	R>C		No	ClinGen ExAC TOPMed gnomAD
rs761230186 CA6945728	183	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761230186 CA387806775	183	R>L		No	ClinGen ExAC TOPMed gnomAD
CA387806791 rs1371844620	186	A>G		No	ClinGen gnomAD
CA6945730 rs753351471	186	A>T		No	ClinGen ExAC gnomAD
CA387806797 rs1311583860	187	P>L		No	ClinGen gnomAD
TCGA novel	188	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140389927 CA6945732	189	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA248069968 rs970265360	189	I>V		No	ClinGen TOPMed gnomAD
CA6945733 rs187852293	190	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA387806812 rs187852293	190	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA6945735 rs777480803	191	D>G		No	ClinGen ExAC gnomAD
rs758184476 CA6945734	191	D>H		No	ClinGen ExAC gnomAD
rs41553716 CA387806861	195	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs41553716 CA6945749	195	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769071268 CA6945751	196	L>*		No	ClinGen ExAC TOPMed gnomAD
CA6945750 rs769071268	196	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1328220089 CA387806872	197	S>A		No	ClinGen TOPMed gnomAD
CA6945752 rs758047066	200	C>R		No	ClinGen ExAC gnomAD
rs777554893 CA6945753	201	K>R		No	ClinGen ExAC gnomAD
rs1201548058 CA387806913	203	E>G		No	ClinGen TOPMed
CA6945754 rs751409779	203	E>K		No	ClinGen ExAC gnomAD
rs1445623041 CA387806927	205	L>R		No	ClinGen TOPMed
rs184818069 CA6945755	206	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA248070702 rs938908714	208	P>L		No	ClinGen Ensembl
rs1267413333 CA387806942	208	P>S		No	ClinGen gnomAD
rs150449232 CA6945757	211	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs755061786 CA6945758	213	H>R		No	ClinGen ExAC TOPMed gnomAD
rs533454974 CA6945760	215	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA387806993 rs1391058592	216	A>G		No	ClinGen gnomAD
CA387806994 rs1391058592	216	A>V		No	ClinGen gnomAD
rs1593615153 CA387806995	217	E>K		No	ClinGen Ensembl
CA387807010 rs1293065042	218	K>N		No	ClinGen gnomAD
rs773508064 CA6945762	222	N>H		No	ClinGen ExAC gnomAD
CA387807073 rs1332275968	228	L>F		No	ClinGen gnomAD
rs950298254 CA248070788	228	L>H		No	ClinGen TOPMed
CA6945765 rs777094741	229	M>I		No	ClinGen ExAC TOPMed gnomAD
CA6945764 rs138261517	229	M>V		No	ClinGen ESP ExAC gnomAD
CA6945766 rs377528243	232	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA387807099 rs1489139013	232	A>T		No	ClinGen gnomAD
rs1472487253 CA387807107	233	C>Y		No	ClinGen gnomAD
rs1414619869 CA387807115	234	R>K		No	ClinGen gnomAD
TCGA novel	235	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766249780 CA6945794	239	P>L		No	ClinGen ExAC gnomAD
rs1186907432 CA387807177	241	T>I		No	ClinGen gnomAD
CA387807192 rs752782489	243	D>E		No	ClinGen ExAC gnomAD
CA387807190 rs1389637973	243	D>V		No	ClinGen gnomAD
CA6945796 rs564032704	244	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	245	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387807220 rs1268231542	247	P>L		No	ClinGen TOPMed
rs368914418 CA6945798	251	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA248071368 rs371387853	253	V>M		No	ClinGen ESP gnomAD
rs146902046 CA6945800	256	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA387807297 rs1566382740	259	A>T		No	ClinGen Ensembl
CA387807302 rs1365306146	259	A>V		No	ClinGen gnomAD
CA248071383 rs1015051570	260	N>D		No	ClinGen TOPMed
rs1015051570 CA248071385	260	N>Y		No	ClinGen TOPMed
rs548556523 CA6945803	261	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548556523 CA6945805	261	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6945802 rs137956836	261	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs137956836 CA6945801	261	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6945804 rs548556523	261	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774069906 CA6945806	262	I>V		No	ClinGen ExAC TOPMed gnomAD
rs761489134 CA6945807	263	V>D		No	ClinGen ExAC TOPMed gnomAD
rs771865600 CA6945808	264	S>G		No	ClinGen ExAC TOPMed gnomAD
CA248071445 rs781732264	267	T>S		No	ClinGen Ensembl
CA387807354 rs1175235785	268	P>L		No	ClinGen TOPMed
rs1207074375 CA387807351	268	P>S		No	ClinGen gnomAD
rs774371943 CA6945835	273	E>K		No	ClinGen ExAC TOPMed
rs761845498 CA6945836	275	R>C	Variant assessed as Somatic; 4.634e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6945837 COSM946992 rs751166752 COSM946993	275	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1324819232 CA387807426	278	L>Q		No	ClinGen TOPMed gnomAD
CA6945839 rs750596331 CA387807443	280	E>D		No	ClinGen ExAC gnomAD
rs754267210 CA6945841	285	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA6945842 rs755494831	286	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1306515991 CA387807486	287	P>L		No	ClinGen TOPMed
CA248074981 rs1038981804	288	P>L		No	ClinGen Ensembl
CA6945843 rs779597368	288	P>S		No	ClinGen ExAC gnomAD
CA387807499 rs1238750666	289	E>D		No	ClinGen TOPMed
rs1210462127 CA387807496	289	E>G		No	ClinGen gnomAD
CA387807524 rs1294001605	293	K>E		No	ClinGen gnomAD
CA387807528 rs1376945261	293	K>R		No	ClinGen TOPMed
TCGA novel	294	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748087235 CA6945895	294	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1366155414 CA387807542	294	G>S		No	ClinGen gnomAD
rs771123471 CA6945896	296	L>F		No	ClinGen ExAC gnomAD
CA387807562 rs1308620929	297	S>*		No	ClinGen gnomAD
rs1228628681 CA387807560	297	S>A		No	ClinGen gnomAD
rs759768187 CA6945898	306	Q>K		No	ClinGen ExAC gnomAD
rs770158720 CA6945899	306	Q>L		No	ClinGen ExAC gnomAD
CA387807628 rs1490673202	307	L>M		No	ClinGen gnomAD
CA248076105 rs1016105222	308	K>E		No	ClinGen TOPMed
rs763342958 CA6945901	309	G>R		No	ClinGen ExAC gnomAD
rs1482903025 CA387807645	310	E>K		No	ClinGen TOPMed gnomAD
CA387807654 rs1246113364	311	V>L		No	ClinGen TOPMed
TCGA novel	316	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6945904 rs541836078	317	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA6945906 rs749946842	318	Y>C		No	ClinGen ExAC gnomAD
CA6945905 rs375369387	318	Y>H		No	ClinGen ESP ExAC gnomAD
rs755713921 CA6945907	319	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6945909 rs753474549	320	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs779711845 CA6945908	320	H>R		No	ClinGen ExAC TOPMed gnomAD
CA6945911 rs143372384	321	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA248076255 rs954115115	321	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1299640313 CA387807732	323	Q>P		No	ClinGen gnomAD
rs1376582949 CA387807746	325	G>A		No	ClinGen gnomAD
rs781366321 CA6945914	326	S>I		No	ClinGen ExAC gnomAD
CA6945915 rs745971681	329	I>V		No	ClinGen ExAC TOPMed gnomAD
rs770103853 CA6945916	331	H>R		No	ClinGen ExAC gnomAD
rs1426651599 CA387807783	331	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6945917 rs775756105	332	L>V		No	ClinGen ExAC gnomAD
CA6945918 rs749527002	334	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1418430671 CA387807819	336	V>L		No	ClinGen TOPMed
CA387807825 rs1482430488	337	A>D		No	ClinGen gnomAD
rs148210921 CA6945920	337	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	339	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs546322524 CA387807845	340	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA6945921 rs546322524	340	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA387807852 rs1243827699	341	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1166663725 CA387807861	342	L>P		No	ClinGen gnomAD
CA6945923 rs772668318	343	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA6945924 rs772668318	343	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA6945922 rs768034481	343	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA387807878 rs1222694182	345	K>E		No	ClinGen TOPMed
rs373451224 CA248076370	345	K>N		No	ClinGen gnomAD
rs1360977289 CA387807894	347	M>L		No	ClinGen TOPMed
CA387807896 rs1446842872	347	M>T		No	ClinGen gnomAD
rs1313358229 CA387807913	349	D>G		No	ClinGen gnomAD
CA387807909 rs1384393507	349	D>N		No	ClinGen gnomAD
rs754655089 CA248076398	353	G>D		No	ClinGen ExAC TOPMed gnomAD
CA6945928 rs564620451	353	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs754655089 CA6945929	353	G>V		No	ClinGen ExAC TOPMed gnomAD
CA6945930 rs765018348	354	M>L		No	ClinGen ExAC gnomAD
TCGA novel	355	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387807950 rs1215650466	355	M>V		No	ClinGen gnomAD
TCGA novel	356	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with P40938

3 regional properties for P40938

Type	Name	Position	InterPro Accession
conserved_site	Terpene synthase, conserved site	606 - 620	IPR002365
domain	Squalene cyclase, C-terminal	416 - 754	IPR032696
domain	Squalene cyclase, N-terminal	101 - 403	IPR032697

Functions

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

4 GO annotations of cellular component

Name	Definition
Ctf18 RFC-like complex	A heptameric complex related to replication factor C, which loads the DNA polymerase processivity factor proliferating cell nuclear antigen (PCNA) onto DNA and plays a vital role in chromosome cohesion. In Saccharomyces the subunits are known as Ctf18p, Rfc2p, Rfc3p, Rfc4p, Rfc5p, Dcc1p, and Ctf8p.
DNA replication factor C complex	A complex that loads the DNA polymerase processivity factor proliferating cell nuclear antigen (PCNA) onto DNA, thereby permitting processive DNA synthesis catalyzed by DNA polymerase. In eukaryotes the complex consists of five polypeptides.
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.

3 GO annotations of molecular function

Name	Definition
ATP-dependent activity, acting on DNA	Catalytic activity that acts to modify DNA, driven by ATP hydrolysis.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA clamp loader activity	Facilitating the opening of the ring structure of the PCNA complex, or any of the related sliding clamp complexes, and their closing around the DNA duplex, driven by ATP hydrolysis.

8 GO annotations of biological process

Name	Definition
DNA duplex unwinding	The process in which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating a region of unpaired single strands.
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 strand elongation involved in DNA replication	The process in which an existing DNA strand is extended by activities including the addition of nucleotides to the 3' end of the strand, complementary to an existing template, as part of DNA replication.
DNA synthesis involved in DNA repair	Synthesis of DNA that proceeds from the broken 3' single-strand DNA end and uses the homologous intact duplex as the template.
DNA-templated DNA replication	A DNA replication process that uses parental DNA as a template for the DNA-dependent DNA polymerases that synthesize the new strands.
positive regulation of DNA-directed DNA polymerase activity	Any process that activates or increases the frequency, rate or extent of DNA-directed DNA polymerase activity.
response to organophosphorus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organophosphorus stimulus. Organophosphorus is a compound containing phosphorus bound to an organic molecule; several organophosphorus compounds are used as insecticides, and they are highly toxic cholinesterase inhibitors.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P06710	dnaX	DNA polymerase III subunit tau	Escherichia coli (strain K12)	PR
P35249	RFC4	Replication factor C subunit 4	Homo sapiens (Human)	PR
Q8R323	Rfc3	Replication factor C subunit 3	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSLWVDKYRP	CSLGRLDYHK	EQAAQLRNLV	QCGDFPHLLV	YGPSGAGKKT	RIMCILRELY
70	80	90	100	110	120
GVGVEKLRIE	HQTITTPSKK	KIEISTIASN	YHLEVNPSDA	GNSDRVVIQE	MLKTVAQSQQ
130	140	150	160	170	180
LETNSQRDFK	VVLLTEVDKL	TKDAQHALRR	TMEKYMSTCR	LILCCNSTSK	VIPPIRSRCL
190	200	210	220	230	240
AVRVPAPSIE	DICHVLSTVC	KKEGLNLPSQ	LAHRLAEKSC	RNLRKALLMC	EACRVQQYPF
250	260	270	280	290	300
TADQEIPETD	WEVYLRETAN	AIVSQQTPQR	LLEVRGRLYE	LLTHCIPPEI	IMKGLLSELL
310	320	330	340	350
HNCDGQLKGE	VAQMAAYYEH	RLQLGSKAIY	HLEAFVAKFM	ALYKKFMEDG	LEGMMF