AiPD: Autoinhibited Protein Database

P35249

Gene name	RFC4
Protein name	Replication factor C subunit 4
Names	Activator 1 37 kDa subunit, A1 37 kDa subunit, Activator 1 subunit 4, Replication factor C 37 kDa subunit, RF-C 37 kDa subunit, RFC37
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5984
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-63 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-63 (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 P35249

Entry ID	Method	Resolution	Chain	Position	Source
6VVO	EM	340 A	D	1-363	PDB
7Z6H	EM	359 A	D	1-363	PDB
AF-P35249-F1	Predicted				AlphaFoldDB

348 variants for P35249

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754151831 CA355738886	2	Q>*		No	ClinGen ExAC gnomAD
CA2747859 rs754151831	2	Q>E		No	ClinGen ExAC gnomAD
rs1389718351 CA355738863	3	A>T		No	ClinGen TOPMed
CA2747858 rs764070917	5	L>H		No	ClinGen ExAC TOPMed gnomAD
CA355738758 rs1330856840	6	K>R		No	ClinGen TOPMed gnomAD
CA355738732 rs1397240865	7	G>D		No	ClinGen gnomAD
CA2747857 rs760861794	7	G>S		No	ClinGen ExAC gnomAD
rs774401832 CA2747856	8	T>I		No	ClinGen ExAC gnomAD
CA355738705 rs1261824231	9	S>A		No	ClinGen gnomAD
rs771027302 CA2747855	11	S>G		No	ClinGen ExAC gnomAD
CA355738573 rs1579185288	13	K>N		No	ClinGen Ensembl
rs762788766 CA2747854	14	P>A		No	ClinGen ExAC gnomAD
COSM730062 CA2747853 rs773156360	14	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA355738561 rs762788766	14	P>S		No	ClinGen ExAC gnomAD
COSM78411 CA2747851 rs146612878	15	P>L	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA89673780 rs146612878	15	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2747852 rs769421551	15	P>S		No	ClinGen ExAC TOPMed gnomAD
rs190809541 CA2747849	16	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1338474960 CA355738507	17	T>I		No	ClinGen gnomAD
CA355738494 rs1226721586	18	K>M		No	ClinGen TOPMed
CA2747848 rs746551628	19	D>V		No	ClinGen ExAC gnomAD
CA355738470 rs1336420393	20	R>G		No	ClinGen gnomAD
rs766629364 CA2747847	20	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2747845 rs746161401	21	G>E		No	ClinGen ExAC gnomAD
rs529733956 CA89673756	22	V>G		No	ClinGen gnomAD
CA2747844 rs201298413	22	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2747843 rs757694142	25	S>T		No	ClinGen ExAC gnomAD
CA2747842 rs558951265	26	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756110234 CA2747840	30	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1165977260 CA355738232	31	E>K		No	ClinGen gnomAD
rs1336014170 CA355738181	32	N>T		No	ClinGen gnomAD
CA2747839 rs11544064	33	K>E		No	ClinGen ExAC gnomAD
rs867618887 CA89673711	36	K>N		No	ClinGen Ensembl
CA355737723 rs1470760543	36	K>R		No	ClinGen gnomAD
CA2747838 rs772457267	38	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2747837 rs762990872	40	W>S		No	ClinGen ExAC TOPMed gnomAD
rs773350811 CA2747836	41	V>M		No	ClinGen ExAC gnomAD
CA355737042 rs1296767372	45	R>C		No	ClinGen TOPMed gnomAD
CA355737037 rs1437049040	45	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA355737034 rs1437049040	45	R>L		No	ClinGen TOPMed gnomAD
rs1239332089 CA355737030	46	P>A		No	ClinGen gnomAD
rs1396221234 CA355737023	47	K>E		No	ClinGen gnomAD
CA355737019 rs1174729738	47	K>R		No	ClinGen gnomAD
rs781615742 CA355737007	48	C>S		No	ClinGen ExAC gnomAD
rs781615742 CA2747801	48	C>Y		No	ClinGen ExAC gnomAD
rs755069325 CA2747800	50	D>G		No	ClinGen ExAC TOPMed gnomAD
rs144428719 CA2747798	53	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2747799 rs751680916	53	A>S		No	ClinGen ExAC gnomAD
CA355736927 rs1230266742	55	Q>R		No	ClinGen gnomAD
CA89671071 rs1046094886	56	E>K		No	ClinGen TOPMed gnomAD
rs1212761926 CA355736895	58	V>M		No	ClinGen gnomAD
CA2747797 rs140654716	59	V>F		No	ClinGen ESP ExAC gnomAD
rs1232622069 CA355736870	60	A>G		No	ClinGen gnomAD
CA2747796 rs753783647	60	A>T		No	ClinGen ExAC gnomAD
CA2747795 rs151335809	61	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	64	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776828891	65	S>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA355736790 rs1340123220	67	E>K		No	ClinGen gnomAD
rs201686899 CA2747793	69	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2747792 rs752318851	70	D>G		No	ClinGen ExAC gnomAD
CA2747782 rs781515743	71	L>P		No	ClinGen ExAC gnomAD
rs1431971378 CA355736193	78	G>R		No	ClinGen TOPMed gnomAD
rs374776936 CA2747779	79	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2747778 rs758462674	80	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1420740337 CA355736177	81	G>R		No	ClinGen gnomAD
rs1397283841 CA355736168	82	T>N		No	ClinGen TOPMed
rs1397283841 CA355736167	82	T>S		No	ClinGen TOPMed
rs1286648899 CA355736138	87	T>A		No	ClinGen TOPMed
rs1579180757 CA355736135	87	T>S		No	ClinGen Ensembl
rs755867523 CA2747775	90	A>G		No	ClinGen ExAC gnomAD
CA2747774 rs113938310	91	A>S		No	ClinGen ExAC TOPMed
CA355736048 rs1424954311	95	L>H		No	ClinGen gnomAD
CA355736045 rs1301667480	96	F>L		No	ClinGen TOPMed
TCGA novel	99	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199940879 CA2747759	102	R>*		No	ClinGen ESP ExAC gnomAD
CA2747758 COSM1421535 rs777641769	102	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA355735693 rs1286783898	103	L>F		No	ClinGen TOPMed
TCGA novel	106	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2747756 rs747875532	106	L>V		No	ClinGen ExAC gnomAD
CA2747755 rs140350328	114	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148403533 CA2747754	114	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1233409795 CA355735423	117	Q>*		No	ClinGen gnomAD
CA355735369 rs1330139097	119	V>A		No	ClinGen gnomAD
CA2747753 rs751204219	120	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1579179080 CA355735302	122	K>E		No	ClinGen Ensembl
CA2747752 rs765989515	122	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	125	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	127	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752178991 CA89666887	127	A>V		No	ClinGen Ensembl
CA2747750 rs749965890	128	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1352063933 CA355735089	131	V>L		No	ClinGen gnomAD
CA355735067 rs1474208733	132	S>L		No	ClinGen TOPMed
CA355735079 rs1188465588	132	S>P		No	ClinGen TOPMed
rs574664855 CA2747747	135	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2747746 rs764526307 COSM3774791	135	R>H	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs760983655 CA2747745	136	S>P		No	ClinGen ExAC gnomAD
rs1448981039 CA355734981	137	D>G		No	ClinGen TOPMed gnomAD
CA355734996 rs1399650552	137	D>H		No	ClinGen TOPMed
rs1448981039 CA355734977	137	D>V		No	ClinGen TOPMed gnomAD
CA2747725 rs767716315	139	K>N		No	ClinGen ExAC gnomAD
rs560784172 CA2747724	140	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs770976844 CA2747722	144	F>V		No	ClinGen ExAC TOPMed gnomAD
CA355734212 rs763063406	146	I>F		No	ClinGen ExAC gnomAD
rs776512584 CA2747720	146	I>T		No	ClinGen ExAC gnomAD
rs763063406 CA2747721	146	I>V		No	ClinGen ExAC gnomAD
rs1284593334 CA355734191	147	V>A		No	ClinGen gnomAD
CA355734165 rs1447152200	149	L>V		No	ClinGen gnomAD
rs768489954 CA2747719	152	A>S		No	ClinGen ExAC
CA2747718 rs746749556	154	S>Y		No	ClinGen ExAC gnomAD
rs1467305871 CA355734044	155	M>V		No	ClinGen TOPMed gnomAD
CA89664591 rs918705520	156	T>I		No	ClinGen TOPMed gnomAD
CA2747717 rs779709412	159	A>V		No	ClinGen ExAC gnomAD
rs771959080 CA2747716	160	Q>E		No	ClinGen ExAC gnomAD
CA355733895 rs1416357634	164	R>I		No	ClinGen gnomAD
CA2747715 rs745488881	165	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2747713 rs376471242	165	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2747714 rs376471242	165	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs753418413 CA2747712	167	M>T		No	ClinGen ExAC gnomAD
CA355733738 rs972834274	170	E>*		No	ClinGen TOPMed gnomAD
CA355733741 rs972834274	170	E>K		No	ClinGen TOPMed gnomAD
CA89664580 rs972834274	170	E>Q		No	ClinGen TOPMed gnomAD
CA2747711 COSM3427429 rs201153001	171	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1579177769 CA355733700	173	T>P		No	ClinGen Ensembl
rs767763764 CA2747708	175	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs140431205 CA2747706	179	I>N		No	ClinGen ESP ExAC gnomAD
CA2747707 rs140431205	179	I>T		No	ClinGen ESP ExAC gnomAD
rs779246775 CA2747705	180	C>Y		No	ClinGen ExAC gnomAD
rs1354159124 CA355733539	182	Y>C		No	ClinGen gnomAD
CA355733525 rs1281251678	183	V>I		No	ClinGen gnomAD
CA355733501 rs1449056932	184	S>I		No	ClinGen gnomAD
rs372512865 CA2747704	185	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA89664516 rs147162624	185	R>P		No	ClinGen ESP ExAC gnomAD
CA2747703 rs147162624	185	R>Q		No	ClinGen ESP ExAC gnomAD
CA2747686 rs766519605	186	I>M		No	ClinGen ExAC gnomAD
rs1040657436 CA89664367	186	I>V		No	ClinGen TOPMed
CA355733258 rs1579177517	188	E>D		No	ClinGen Ensembl
CA2747685 rs371460517	188	E>Q		No	ClinGen ESP ExAC gnomAD
rs1579177509 CA355733203	191	T>P		No	ClinGen Ensembl
CA355733131 rs1579177485	194	C>F		No	ClinGen Ensembl
TCGA novel	194	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1579177474 CA355733046	197	F>S		No	ClinGen Ensembl
rs765207894 CA2747682	198	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2747680 rs775247271	199	F>I		No	ClinGen ExAC TOPMed gnomAD
CA355733018 rs775247271	199	F>L		No	ClinGen ExAC TOPMed gnomAD
CA355733001 rs1283877488	199	F>L		No	ClinGen gnomAD
rs759344009 CA2747678	203	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1218830511 CA355732782	207	Q>H		No	ClinGen gnomAD
CA355732797 rs1349002630	207	Q>P		No	ClinGen TOPMed
rs1365765044 CA355732759	208	Q>H		No	ClinGen gnomAD
CA89664289 rs918749700	209	Q>R		No	ClinGen TOPMed
CA2747677 rs150799698	210	R>*		No	ClinGen ESP ExAC gnomAD
CA2747676 rs770919197	210	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs147517104 CA2747675	213	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	214	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2747673 rs769156323	219	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1357847082 CA355732455	220	V>L		No	ClinGen TOPMed
CA355732440 rs1229018045	221	K>R		No	ClinGen TOPMed
CA355732425 rs1172554026	222	I>V		No	ClinGen Ensembl
CA2747672 rs747725781	223	S>C		No	ClinGen ExAC gnomAD
rs1560090804 CA355732383	223	S>T		No	ClinGen Ensembl
CA89664245 rs751091873	224	D>N		No	ClinGen gnomAD
rs1260907345 CA355732326	225	E>A		No	ClinGen gnomAD
CA2747653 rs747555897	226	G>R		No	ClinGen ExAC gnomAD
CA2747651 rs183347078	227	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA2747652 rs776113301	227	I>V		No	ClinGen ExAC gnomAD
rs1462800670 CA355731618	230	L>F		No	ClinGen Ensembl
rs1579176822 CA355731590	232	K>E		No	ClinGen Ensembl
TCGA novel	232	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1487591446 CA355731566	233	V>G		No	ClinGen TOPMed
CA2747648 rs758718131	234	S>A		No	ClinGen ExAC gnomAD
CA355731483 rs1472479378	235	E>D		No	ClinGen TOPMed
CA355731340 rs1382333800	241	A>S		No	ClinGen TOPMed
TCGA novel	241	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA89663729 rs748828438	242	I>M		No	ClinGen Ensembl
rs746262888 CA2747646	243	T>I		No	ClinGen ExAC TOPMed
rs1445497276 CA355731231	245	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs778941438 CA2747645	246	Q>K		No	ClinGen ExAC gnomAD
CA2747642 rs56354557	248	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373810905 CA2747641	249	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs751515939 CA2747640	250	R>*		No	ClinGen ExAC TOPMed gnomAD
rs766450499 CA2747639	250	R>Q		No	ClinGen ExAC gnomAD
rs1179349530 CA355731098	251	L>S		No	ClinGen gnomAD
TCGA novel	253	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762608176 CA2747638	253	G>D		No	ClinGen ExAC gnomAD
rs764731180 CA2747636	254	G>R		No	ClinGen ExAC gnomAD
rs761512450 CA2747635	257	I>S		No	ClinGen ExAC TOPMed gnomAD
CA2747634 rs776312877	258	T>I		No	ClinGen ExAC gnomAD
TCGA novel	260	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355730915 rs1355389228	261	V>L		No	ClinGen TOPMed
rs768122510 CA2747633	262	I>V		No	ClinGen ExAC gnomAD
rs760209899 CA2747631	264	D>N		No	ClinGen ExAC gnomAD
rs193178391 CA2747630	264	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355730791 rs187852064 CA2747627	267	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2747570 rs138352089	269	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1579174359 CA355730312	270	P>A		No	ClinGen Ensembl
CA355730303 rs1368885287	270	P>L		No	ClinGen TOPMed gnomAD
CA355730304 rs1368885287	270	P>R		No	ClinGen TOPMed gnomAD
rs1449196156 CA355730287	272	E>K		No	ClinGen TOPMed gnomAD
CA89661664 rs892329109	274	I>T		No	ClinGen TOPMed
rs769831210	275	D>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA355730230 COSM479829 rs1328593212	275	D>G	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
rs749287425 CA2747568	275	D>H		No	ClinGen ExAC TOPMed gnomAD
rs749287425 CA2747569	275	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel rs748046423	276	G>E	Variant assessed as Somatic; impact. Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA89661629 rs756915494	276	G>E		No	ClinGen TOPMed
CA355730193 rs1416562307	277	V>G		No	ClinGen gnomAD
rs368546084 CA355730203	277	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs368546084 CA355730200 CA2747564	277	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2747561 rs752367180	278	F>L		No	ClinGen ExAC gnomAD
rs1444594665 CA355730160	279	A>D		No	ClinGen gnomAD
CA2747558 rs374541777	279	A>T		No	ClinGen ESP ExAC
CA355730157 rs1444594665	279	A>V		No	ClinGen gnomAD
CA2747557 rs754466494	280	A>T		No	ClinGen ExAC gnomAD
CA2747556 rs186504488	280	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763551173 CA2747554	281	C>F		No	ClinGen ExAC TOPMed gnomAD
CA355730137 rs1232020982	281	C>R		No	ClinGen gnomAD
rs763551173 CA2747555	281	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs773915373 CA355730119	282	Q>*		No	ClinGen ExAC gnomAD
CA355730121 rs773915373	282	Q>E		No	ClinGen ExAC gnomAD
CA2747553 rs773915373	282	Q>K		No	ClinGen ExAC gnomAD
CA355730114 rs1385207531	282	Q>R		No	ClinGen TOPMed
rs1579174205 CA355730087	283	S>R		No	ClinGen Ensembl
CA2747552 rs765664110	283	S>R		No	ClinGen ExAC
CA2747551 rs145685067	284	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1553799135 CA2747549	285	S>Y		No	ClinGen Ensembl
rs776860900 CA2747547	286	F>S		No	ClinGen ExAC TOPMed gnomAD
CA2747546 rs76048542	287	D>H		No	ClinGen ESP ExAC gnomAD
rs76048542 CA89661553	287	D>Y		No	ClinGen ESP ExAC gnomAD
rs904851671 CA89661552	288	K>E		No	ClinGen gnomAD
rs145789241 CA2747543	289	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs34592108 CA2747545	289	L>V		No	ClinGen ExAC TOPMed
CA2747541 rs772195384	290	E>A		No	ClinGen ExAC TOPMed gnomAD
rs34534239 CA89661522	291	A>T		No	ClinGen TOPMed gnomAD
rs2066497 CA2747538 VAR_014307	292	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
TCGA novel	292	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA89661519 rs753478173	292	V>L		No	ClinGen Ensembl
rs150273279 CA355729956	293	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2747536 rs150273279	293	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1803025 CA89660503	295	D>E		No	ClinGen ExAC TOPMed gnomAD
CA89660504 rs867586469	295	D>G		No	ClinGen Ensembl
CA355729379 rs1476502402	295	D>N		No	ClinGen TOPMed
rs141078686 CA89660499	296	L>*		No	ClinGen ESP
TCGA novel	297	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2747489 rs759554231	297	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1359370952 CA355729359	297	I>V		No	ClinGen gnomAD
rs774423112 CA2747488	298	D>G		No	ClinGen ExAC gnomAD
rs1467908736 CA355729344	298	D>N		No	ClinGen TOPMed gnomAD
rs1553799047 CA2747487	299	E>*		No	ClinGen ExAC
CA355729329 rs1560089254	299	E>*		No	ClinGen Ensembl
rs771112894 CA2747486	299	E>D		No	ClinGen ExAC TOPMed
CA355729293 rs1184851181	301	H>Q		No	ClinGen gnomAD
rs1579173678 CA355729298	301	H>R		No	ClinGen Ensembl
rs140107107 CA2747484	301	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355729290 rs1560089223	302	A>P		No	ClinGen Ensembl
rs151110947 CA2747483	302	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1451416021 CA355729285	303	A>T		No	ClinGen TOPMed gnomAD
CA2747481 rs144238574	303	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2747480 rs775221292	304	T>A		No	ClinGen ExAC gnomAD
rs778552048 CA2747476	307	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs561389810 CA2747477	307	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs181518692 CA2747475	308	N>D		No	ClinGen 1000Genomes ExAC
rs749725448 CA2747472	308	N>I		No	ClinGen ExAC TOPMed
CA2747474 rs749725448	308	N>S		No	ClinGen ExAC TOPMed
rs112452568 CA89660401	309	Q>E		No	ClinGen TOPMed gnomAD
rs112452568 CA355729252	309	Q>K		No	ClinGen TOPMed gnomAD
rs756386425 CA2747470	310	L>F		No	ClinGen ExAC
rs1464308348 CA355729241	311	H>N		No	ClinGen TOPMed
rs1464308348 CA355729239	311	H>Y		No	ClinGen TOPMed
rs767660109 CA2747468	312	D>Y		No	ClinGen ExAC
CA2747465 rs751841807	313	V>G		No	ClinGen ExAC gnomAD
rs1579173543 CA355729221	314	V>I		No	ClinGen Ensembl
CA355729211 rs1473093902	315	V>A		No	ClinGen TOPMed
CA2747464 rs766349941	317	N>S		No	ClinGen ExAC TOPMed gnomAD
CA2747462 rs763136908	318	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1183084063 CA548797593	319	L>F		No	ClinGen gnomAD
rs1385894014 CA548797594	319	L>W		No	ClinGen gnomAD
rs1560089077	320	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA355729179 rs199928937	320	S>A		No	ClinGen 1000Genomes ESP TOPMed
CA548797592 rs1560089108	320	S>K		No	ClinGen Ensembl
CA2747459 rs199928937	320	S>P		No	ClinGen 1000Genomes ESP TOPMed
rs190270599 CA2747457	321	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	321	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355729167 rs760476756	322	K>*		No	ClinGen ExAC
CA2747456 rs760476756	322	K>E		No	ClinGen ExAC
CA2747453 rs775416188	322	K>N		No	ClinGen ExAC
CA355729161 rs1458368450	323	Q>E		No	ClinGen TOPMed gnomAD
CA2747447 rs772049700	323	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs776087124 CA2747450	323	Q>L		No	ClinGen ExAC
CA2747449 rs1422555341	323	Q>L		No	ClinGen TOPMed gnomAD
rs1422555341 CA355729158	323	Q>R		No	ClinGen TOPMed gnomAD
rs1477633253 CA355729155	324	K>*		No	ClinGen TOPMed
rs1477633253 COSM4153048 CA355729154	324	K>E	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
CA355729150 rs1178057186	324	K>N		No	ClinGen TOPMed
CA355729153 rs1560089019	324	K>R		No	ClinGen Ensembl
TCGA novel	325	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373892710 CA2747441	326	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs745492799 CA2747442	326	I>V		No	ClinGen ExAC TOPMed gnomAD
CA89660264 rs944896380	327	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2747439 rs770305041	329	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1393975691 CA355729123	329	E>K		No	ClinGen gnomAD
TCGA novel	330	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355729113 rs1458299481	330	K>I		No	ClinGen gnomAD
CA355729106 rs1225615959	331	L>P		No	ClinGen TOPMed
CA355729109 rs1579173246	331	L>V		No	ClinGen Ensembl
CA355729084 rs1479074910	333	E>V		No	ClinGen gnomAD
rs1191835902 CA355729075	334	V>A		No	ClinGen TOPMed gnomAD
rs201232689 CA2747390	334	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355729057 rs1444723997	336	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2747389 rs777061977	337	C>R		No	ClinGen ExAC TOPMed gnomAD
CA2747388 rs370796190	337	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs780449817 CA2747386	339	A>P		No	ClinGen ExAC TOPMed
CA355729034 rs1389609436	339	A>V		No	ClinGen TOPMed
CA355729030 rs1560088748	340	D>G		No	ClinGen Ensembl
rs1220282188 CA355729032	340	D>H		No	ClinGen gnomAD
rs1220282188 CA355729033	340	D>N		No	ClinGen gnomAD
rs1269583504 CA355729025	341	G>S		No	ClinGen gnomAD
rs1225168918 CA355729019	342	A>T		No	ClinGen gnomAD
CA2747379 rs757361483	343	D>A		No	ClinGen ExAC TOPMed
CA2747378 rs757361483	343	D>G		No	ClinGen ExAC TOPMed
CA355729013 rs746072095	343	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2747380 rs746072095	343	D>N		No	ClinGen ExAC TOPMed gnomAD
CA355729005 rs1269703967	344	E>A		No	ClinGen TOPMed
CA355728996 rs1405687630	345	H>R		No	ClinGen gnomAD
CA89659819 rs377647190	346	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355728982 rs1412058138	347	Q>R		No	ClinGen gnomAD
rs1258271549 CA355728976	348	L>F		No	ClinGen Ensembl
rs781211613 CA2747376	349	I>T		No	ClinGen ExAC gnomAD
CA89659815 rs1050635800	349	I>V		No	ClinGen gnomAD
rs752578465 CA89659800	352	C>R		No	ClinGen Ensembl
rs1443600294 CA355728943	353	A>G		No	ClinGen gnomAD
CA89659772 rs1003074956	353	A>T		No	ClinGen TOPMed
rs1553798875 CA2747371	354	T>I		No	ClinGen Ensembl
VAR_036121	354	T>S	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
CA355728934 rs1438128824	355	V>L		No	ClinGen gnomAD
CA89659694 rs373228504	356	M>I		No	ClinGen ESP TOPMed
rs1193962065 CA355728926	356	M>T		No	ClinGen gnomAD
rs561310097 CA355728918	357	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2747368 rs561310097	357	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
rs375896750 CA2747364	358	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs370052832 CA2747365	358	Q>P		No	ClinGen ESP ExAC gnomAD
rs370052832 CA355728912	358	Q>R		No	ClinGen ESP ExAC gnomAD
rs763648055 CA2747360	359	L>F		No	ClinGen ExAC
CA2747362 rs776111552	359	L>S		No	ClinGen ExAC gnomAD
rs1579172575 CA355728902 COSM1663895	360	S>C	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2747359 rs761218436	360	S>P		No	ClinGen ExAC gnomAD
CA548797550 rs749537754	360	S>Q		No	ClinGen gnomAD
rs1230578949 CA548797539	364	C>C		No	ClinGen gnomAD

No associated diseases with P35249

3 regional properties for P35249

Type	Name	Position	InterPro Accession
domain	AAA+ ATPase domain	70 - 202	IPR003593
domain	ATPase, AAA-type, core	74 - 200	IPR003959
domain	Replication factor C, C-terminal	270 - 353	IPR013748

Functions

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

5 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.
Elg1 RFC-like complex	A pentameric replication factor C (RLC) complex, which unloads the DNA polymerase processivity factor proliferating cell nuclear antigen (PCNA) from chromatin and has roles in telomere length regulation and other aspects of genome stability. In Saccharomyces the subunits are known as Elg1p, Rfc2p, Rfc3p, Rfc4p, and Rfc5p.
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 binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).

5 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 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-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.

4 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
P40938	RFC3	Replication factor C subunit 3	Homo sapiens (Human)	PR
Q99J62	Rfc4	Replication factor C subunit 4	Mus musculus (Mouse)	PR
F4JRP8	At4g24790	Protein STICHEL-like 2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MQAFLKGTSI	STKPPLTKDR	GVAASAGSSG	ENKKAKPVPW	VEKYRPKCVD	EVAFQEEVVA
70	80	90	100	110	120
VLKKSLEGAD	LPNLLFYGPP	GTGKTSTILA	AARELFGPEL	FRLRVLELNA	SDERGIQVVR
130	140	150	160	170	180
EKVKNFAQLT	VSGSRSDGKP	CPPFKIVILD	EADSMTSAAQ	AALRRTMEKE	SKTTRFCLIC
190	200	210	220	230	240
NYVSRIIEPL	TSRCSKFRFK	PLSDKIQQQR	LLDIAKKENV	KISDEGIAYL	VKVSEGDLRK
250	260	270	280	290	300
AITFLQSATR	LTGGKEITEK	VITDIAGVIP	AEKIDGVFAA	CQSGSFDKLE	AVVKDLIDEG
310	320	330	340	350	360
HAATQLVNQL	HDVVVENNLS	DKQKSIITEK	LAEVDKCLAD	GADEHLQLIS	LCATVMQQLS

QNC