AiPD: Autoinhibited Protein Database

Q9BRT9

Gene name	GINS4
Protein name	DNA replication complex GINS protein SLD5
Names	GINS complex subunit 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84296
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-160 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-160 (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

9 structures for Q9BRT9

Entry ID	Method	Resolution	Chain	Position	Source
2E9X	X-ray	230 A	D/H	1-223	PDB
2EHO	X-ray	300 A	A/E/I	11-213	PDB
2Q9Q	X-ray	236 A	B/F	1-223	PDB
6XTX	EM	329 A	D	1-223	PDB
6XTY	EM	677 A	D	1-223	PDB
7PFO	EM	320 A	G	1-223	PDB
7PLO	EM	280 A	G	1-223	PDB
8B9D	EM	340 A	G	1-223	PDB
AF-Q9BRT9-F1	Predicted				AlphaFoldDB

168 variants for Q9BRT9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1272307395 CA371040650	2	T>S		No	ClinGen TOPMed
CA4726194 rs754535027	3	E>D		No	ClinGen ExAC
CA4726193 rs746591784	3	E>K		No	ClinGen ExAC TOPMed gnomAD
CA371040678 rs141250807	4	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4726195 rs141250807	4	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA371040812 rs1408642386	12	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA371040824 rs1443874276	13	D>G		No	ClinGen gnomAD
rs748643785 CA4726197	14	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1425052360 CA371040855	15	G>A		No	ClinGen TOPMed gnomAD
rs1386917391 CA371040845	15	G>S		No	ClinGen gnomAD
rs1425052360 CA371040857	15	G>V		No	ClinGen TOPMed gnomAD
TCGA novel	17	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1585617650 CA371040945	20	V>L		No	ClinGen Ensembl
CA371041032 rs1324538275	27	I>F		No	ClinGen gnomAD
CA4726198 rs770306062	27	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4726201 rs771125229	32	Q>P		No	ClinGen ExAC gnomAD
CA371041761 rs1390326787	36	N>S		No	ClinGen gnomAD
rs911790903 CA175880728	39	F>V		No	ClinGen Ensembl
rs1585621206 CA371041827	41	P>S		No	ClinGen Ensembl
rs759227522 CA4726235	42	E>D		No	ClinGen ExAC gnomAD
rs752194609 CA4726237	45	E>V		No	ClinGen ExAC TOPMed gnomAD
CA371041942 rs1247816450	48	P>A		No	ClinGen gnomAD
CA371041947 rs1384618898	48	P>L		No	ClinGen TOPMed
CA4726239 rs778406591	50	I>M		No	ClinGen ExAC gnomAD
rs1357263163 CA371042010	52	E>G		No	ClinGen TOPMed gnomAD
CA4726240 rs754264550	53	C>Y		No	ClinGen ExAC gnomAD
CA4726241 rs757689710	55	M>L		No	ClinGen ExAC gnomAD
rs1179882087 CA371042061	56	E>G		No	ClinGen gnomAD
rs1028030824 CA175880792	56	E>Q		No	ClinGen TOPMed
rs1270004502 CA371042071	57	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA4726242 rs374321820	59	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA175880820 CA4726243 rs746118388	61	M>I		No	ClinGen ExAC gnomAD
rs750847434 CA4726262	62	E>G		No	ClinGen ExAC gnomAD
rs758758910 CA4726263	65	L>I		No	ClinGen ExAC gnomAD
rs780295189 CA4726264	66	R>K		No	ClinGen ExAC TOPMed gnomAD
rs150952772 CA4726266	69	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA175881452 rs1049466441	69	K>R		No	ClinGen TOPMed gnomAD
CA4726267 rs781095367	70	R>W		No	ClinGen ExAC gnomAD
CA371042491 rs1585621684	72	D>A		No	ClinGen Ensembl
CA4726269 rs770717999	72	D>E		No	ClinGen ExAC TOPMed gnomAD
rs774414113 CA4726270	73	L>M		No	ClinGen ExAC gnomAD
rs927288953 CA175881459	74	K>R		No	ClinGen TOPMed
rs771957751 CA371042516	76	S>N		No	ClinGen ExAC TOPMed gnomAD
rs771957751 CA4726272	76	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1563254557 CA371042521	77	I>F		No	ClinGen Ensembl
rs1485782641 CA371042524	77	I>S		No	ClinGen gnomAD
rs1563254564 CA371042531	78	H>R		No	ClinGen Ensembl
rs992875000 CA175881471	79	Q>K		No	ClinGen TOPMed gnomAD
rs1036732753 CA175881488	79	Q>R		No	ClinGen TOPMed
CA175881491 rs917380492	80	M>V		No	ClinGen TOPMed gnomAD
CA371042628 rs1318115623	85	I>N		No	ClinGen TOPMed
CA4726276 rs140743952	86	R>C	Variant assessed as Somatic; 9.244e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375701440 CA4726278	86	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4726277 rs375701440	86	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4726280 rs150086375	88	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs372245739 CA4726281	89	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1299754647 CA371042724	90	S>N		No	ClinGen gnomAD
CA371042780 rs1302756953	92	Y>*		No	ClinGen TOPMed gnomAD
rs755093330 CA4726283	92	Y>C		No	ClinGen ExAC gnomAD
CA4726282 rs543042630	92	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA4726284 rs781348747	93	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1403782240 CA371042781	93	L>V		No	ClinGen TOPMed
CA4726285 rs370913420	94	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA175881559 rs774765502	94	R>W		No	ClinGen TOPMed gnomAD
CA4726286 rs756212090	95	C>R		No	ClinGen ExAC gnomAD
COSM3432431 CA4726287 rs779030440	96	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1488809440 CA371042877	96	R>H		No	ClinGen gnomAD
rs1221360808 CA371042900	97	L>F		No	ClinGen gnomAD
CA4726288 rs745774684	98	M>L		No	ClinGen ExAC TOPMed gnomAD
rs745774684 CA371042921	98	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1176850648 CA371042967	99	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1489179845 CA371042993	99	K>N		No	ClinGen gnomAD
rs768468703 CA4726311	102	K>*		No	ClinGen ExAC gnomAD
rs780758152 CA4726312	102	K>M		No	ClinGen ExAC gnomAD
CA371043860 rs1295741812	105	P>S		No	ClinGen TOPMed
CA175883654 rs999237925 COSM3699088	106	H>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs199761157 CA175883657	110	K>T		No	ClinGen 1000Genomes TOPMed
rs550157200 CA4726315	111	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA4726316 rs372132452	112	K>E		No	ClinGen ESP ExAC gnomAD
rs951532434 CA175883668	112	K>I		No	ClinGen TOPMed gnomAD
rs1413621719 CA371043962	112	K>N		No	ClinGen TOPMed
rs1179374898 CA371043969	113	T>A		No	ClinGen TOPMed
rs1417947496 CA371043975	113	T>I		No	ClinGen TOPMed
CA371043974 rs1417947496	113	T>R		No	ClinGen TOPMed
CA371043981 rs1185294461	114	R>C		No	ClinGen gnomAD
rs1239038975 CA371043987	114	R>H		No	ClinGen TOPMed gnomAD
CA175883685 rs763468665 CA4726317	116	E>D		No	ClinGen ExAC gnomAD
rs1031148596 CA175883677	116	E>V		No	ClinGen Ensembl
rs771487958 CA4726318	117	G>R		No	ClinGen ExAC TOPMed gnomAD
rs200745887 CA175883700	118	E>*		No	ClinGen TOPMed
CA371044041 rs200745887	118	E>Q		No	ClinGen TOPMed
TCGA novel	118	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs74703449 CA4726319	119	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767898710 CA4726321	119	P>L		No	ClinGen ExAC TOPMed gnomAD
rs74703449 CA4726320	119	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752880102 CA4726322	120	S>F		No	ClinGen ExAC gnomAD
rs376381703 CA4726324	124	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4726326 rs757398107	126	E>G		No	ClinGen ExAC gnomAD
CA4726329 rs754751330	127	L>F		No	ClinGen ExAC gnomAD
rs751494503 CA4726328	127	L>S		No	ClinGen ExAC gnomAD
CA371044158 rs779897589	127	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1322188898 CA371044210	130	A>V		No	ClinGen gnomAD
CA371044228 rs1280644923	132	E>G		No	ClinGen gnomAD
rs1384595320 CA371044253	134	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775844956 CA4726357 COSM1099835	135	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA371044275 rs1340550644	136	N>I		No	ClinGen TOPMed
CA175884031 rs377364902	139	S>F		No	ClinGen ESP TOPMed
CA371044323 rs1226326557	140	Y>C		No	ClinGen TOPMed
rs769121916 CA371044341	142	K>E		No	ClinGen ExAC TOPMed gnomAD
rs769121916 CA4726359	142	K>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	143	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1412391453 CA371044359	143	N>S		No	ClinGen TOPMed
CA4726360 rs777017830	143	N>Y		No	ClinGen ExAC TOPMed gnomAD
COSM1552674 rs201557458 CA4726363	145	A>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs201557458 CA4726362	145	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371044383 rs1394150464	145	A>V		No	ClinGen TOPMed
rs1287026854 CA371044395	146	L>S		No	ClinGen gnomAD
rs145822699 CA4726364	148	H>Y		No	ClinGen ESP ExAC gnomAD
CA4726365 rs767560732	150	P>A		No	ClinGen ExAC gnomAD
CA371044454 rs767560732	150	P>T		No	ClinGen ExAC gnomAD
rs752602872 CA4726366	151	P>L		No	ClinGen ExAC gnomAD
CA371044472 rs1452239656	152	N>H		No	ClinGen gnomAD
CA371044534 rs1236815412	155	K>N		No	ClinGen gnomAD
rs1441945430 CA371044543	156	V>L		No	ClinGen gnomAD
rs951637519 CA175884110	157	D>E		No	ClinGen TOPMed gnomAD
CA175884117 rs763825764	160	R>L		No	ClinGen ExAC TOPMed gnomAD
rs763825764 CA4726369	160	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs536442949 CA4726368	160	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA371044600 rs1207975231	161	A>T		No	ClinGen TOPMed
rs1341244449 CA371045237	168	D>N		No	ClinGen gnomAD
rs192899689 CA4726390	169	S>F		No	ClinGen 1000Genomes ExAC
CA4726391 rs750387861	170	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs377034608 CA4726392	170	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	170	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371045292 rs141719341	171	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4726393 rs141719341	171	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1196074445 CA371045326	172	F>L		No	ClinGen TOPMed
CA371045331 rs1481419852	173	L>M		No	ClinGen TOPMed
rs1255915051 CA371045422	176	R>T		No	ClinGen gnomAD
CA4726394 rs556997519	178	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4726395 rs144307110	178	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA371045558 rs1295111780	180	E>*		No	ClinGen TOPMed
rs1256447941 CA371045587	181	N>D		No	ClinGen gnomAD
CA371045693 rs1585625016	185	E>D		No	ClinGen Ensembl
CA175885688 rs1031135106	186	P>A		No	ClinGen TOPMed
rs1329286943 CA371045732	187	D>G		No	ClinGen TOPMed
CA4726397 rs781762102	190	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA371045802 rs1425209805	191	Q>*		No	ClinGen gnomAD
rs777955735 CA4726418	193	D>N		No	ClinGen ExAC TOPMed gnomAD
rs148743285 CA4726421	195	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	196	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1055455430 CA371046128	198	L>M		No	ClinGen TOPMed gnomAD
CA371046130 rs1055455430	198	L>V		No	ClinGen TOPMed gnomAD
CA371046268 rs1220339373	203	Q>*		No	ClinGen TOPMed gnomAD
CA4726427 rs769636118	204	H>Q		No	ClinGen ExAC gnomAD
CA4726426 rs747997128	204	H>Y		No	ClinGen ExAC gnomAD
CA371046339 rs1437601885	207	R>*		No	ClinGen TOPMed gnomAD
CA371046338 rs1437601885	207	R>G		No	ClinGen TOPMed gnomAD
CA175886001 rs546011448	207	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4726429 rs546011448	207	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4726431 rs774118928	209	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1164316468 CA371046401	211	I>S		No	ClinGen gnomAD
CA175886009 rs750671145	211	I>V		No	ClinGen TOPMed
rs531039634 CA4726433	213	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753274950 CA4726434	218	G>R		No	ClinGen ExAC TOPMed gnomAD
rs528229647 CA175886033	219	A>V		No	ClinGen TOPMed gnomAD
CA371046546 rs1445071638	220	V>L		No	ClinGen TOPMed gnomAD
CA371046572 rs1311972422	221	Q>R		No	ClinGen gnomAD

No associated diseases with Q9BRT9

3 regional properties for Q9BRT9

Type	Name	Position	InterPro Accession
domain	GINS subunit, domain A	50 - 126	IPR021151
domain	DNA replication complex GINS protein SLD5, C-terminal	165 - 223	IPR031633
domain	GINS complex protein Sld5, alpha-helical domain	26 - 146	IPR038749

Functions

		Description
EC Number
Subcellular Localization	Nucleus Chromosome Cytoplasm	Associates with chromatin
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
CMG complex	A protein complex that contains the GINS complex, Cdc45p, and the heterohexameric MCM complex, and that is involved in unwinding DNA during replication.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
GINS complex	A heterotetrameric protein complex that associates with replication origins, where it is required for the initiation of DNA replication, and with replication forks.
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.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

5 GO annotations of biological process

Name	Definition
DNA unwinding involved in DNA replication	The process in which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating unpaired template strands for DNA replication.
double-strand break repair via break-induced replication	The error-free repair of a double-strand break in DNA in which the centromere-proximal end of a broken chromosome searches for a homologous region in an intact chromosome. DNA synthesis initiates from the 3' end of the invading DNA strand, using the intact chromosome as the template, and progresses to the end of the chromosome.
inner cell mass cell proliferation	The proliferation of cells in the inner cell mass.
positive regulation of DNA primase activity	Any process that activates or increases the frequency, rate or extent of DNA primase activity.
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.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A2VE40	GINS4	DNA replication complex GINS protein SLD5	Bos taurus (Bovine)	PR
Q99LZ3	Gins4	DNA replication complex GINS protein SLD5	Mus musculus (Mouse)	PR
Q499W2	Gins4	DNA replication complex GINS protein SLD5	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MTEEVDFLGQ	DSDGGSEEVV	LTPAELIERL	EQAWMNEKFA	PELLESKPEI	VECVMEQLEH
70	80	90	100	110	120
MEENLRRAKR	EDLKVSIHQM	EMERIRYVLS	SYLRCRLMKI	EKFFPHVLEK	EKTRPEGEPS
130	140	150	160	170	180
SLSPEELAFA	REFMANTESY	LKNVALKHMP	PNLQKVDLFR	AVPKPDLDSY	VFLRVRERQE
190	200	210	220
NILVEPDTDE	QRDYVIDLEK	GSQHLIRYKT	IAPLVASGAV	QLI