AiPD: Autoinhibited Protein Database

Q9HCU8

Gene name	POLD4 (POLDS)
Protein name	DNA polymerase delta subunit 4
Names	DNA polymerase delta subunit p12
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57804
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-74 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-74 (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

7 structures for Q9HCU8

Entry ID	Method	Resolution	Chain	Position	Source
6HVO	X-ray	210 A	D/E/F	1-19	PDB
6S1M	EM	427 A	D	2-107	PDB
6S1N	EM	486 A	D	2-107	PDB
6S1O	EM	810 A	D	2-107	PDB
6TNY	EM	308 A	D	2-107	PDB
6TNZ	EM	405 A	D	2-107	PDB
AF-Q9HCU8-F1	Predicted				AlphaFoldDB

99 variants for Q9HCU8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs935669164 CA224138649	2	G>V		No	ClinGen TOPMed
CA224138646 rs920960565	5	R>Q		No	ClinGen TOPMed
CA381511992 rs1312979258	7	I>F		No	ClinGen gnomAD
TCGA novel	7	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381511975 rs1388237430	8	T>N		No	ClinGen TOPMed
rs780693051 CA6136049	9	D>N		No	ClinGen ExAC gnomAD
rs771361847 CA6136048	10	S>C		No	ClinGen ExAC gnomAD
CA381511919 rs1590906760	11	Y>C		No	ClinGen Ensembl
rs778149868 CA6136047	12	P>L		No	ClinGen ExAC gnomAD
CA381511892 rs778149868	12	P>Q		No	ClinGen ExAC gnomAD
CA6136046 rs778149868	12	P>R		No	ClinGen ExAC gnomAD
CA381511872 rs1384668201	13	V>A		No	ClinGen TOPMed
CA381511880 rs1180438631	13	V>I		No	ClinGen TOPMed gnomAD
CA381511828 rs1474061042	17	R>G		No	ClinGen gnomAD
rs758740392 CA6136045	17	R>T		No	ClinGen ExAC TOPMed gnomAD
rs747903396 CA6136044	18	E>G		No	ClinGen ExAC TOPMed
TCGA novel	20	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779104220 CA6136043	20	P>S		No	ClinGen ExAC gnomAD
rs779104220 CA381511788	20	P>T		No	ClinGen ExAC gnomAD
CA6136040 rs766436446	21	A>D		No	ClinGen ExAC gnomAD
rs753879282 CA6136041	21	A>S		No	ClinGen ExAC gnomAD
rs753879282 CA381511778	21	A>T		No	ClinGen ExAC gnomAD
CA381511755 rs1321308242	22	G>E		No	ClinGen gnomAD
rs199992452 CA6136039	24	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6136037 rs150889244	26	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150889244 CA224138575	26	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	27	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6136036 rs200868910	27	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1299440451 CA381511194	29	A>V		No	ClinGen gnomAD
CA381511188 rs1454020477	30	P>S		No	ClinGen gnomAD
CA381511163 rs55855949	31	E>D		No	ClinGen gnomAD
CA224138550 rs980903205	31	E>K		No	ClinGen gnomAD
CA6136031 rs371109758	32	L>P		No	ClinGen ESP ExAC gnomAD
rs1314895341 CA381511080	33	G>E		No	ClinGen TOPMed
CA381511065 rs1227956042	34	E>K		No	ClinGen TOPMed
CA381511014 rs1590906335	37	Q>P		No	ClinGen Ensembl
CA224138333 rs908194708	39	R>G		No	ClinGen Ensembl
CA6136014 rs28364240	39	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6136013 rs28364240	39	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6136012 VAR_022269 rs28364240	39	R>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6136009 rs772643660	40	D>Y		No	ClinGen ExAC gnomAD
rs772582490 CA6136008	41	E>K		No	ClinGen ExAC TOPMed gnomAD
rs981006452 CA381510878	42	E>D		No	ClinGen gnomAD
rs1252630914 CA381510873	43	E>K		No	ClinGen gnomAD
rs748607722 CA6136006	44	A>E		No	ClinGen ExAC gnomAD
CA224138293 rs969216007	44	A>T		No	ClinGen Ensembl
CA381510826 rs1253746898	46	L>V		No	ClinGen gnomAD
CA381510769 rs1348226587	50	R>G		No	ClinGen gnomAD
rs1308075470 CA381510766	50	R>K		No	ClinGen gnomAD
rs749525237 CA6136003	54	L>P		No	ClinGen ExAC gnomAD
rs34351407 CA224138281	54	L>V		No	ClinGen gnomAD
CA6136002 rs780314719	56	W>R		No	ClinGen ExAC TOPMed gnomAD
rs756220551 CA6136001	57	Q>H		No	ClinGen ExAC gnomAD
rs1413688030 CA381510640	58	Y>D		No	ClinGen TOPMed
rs1413688030 CA381510642	58	Y>H		No	ClinGen TOPMed
CA381510613 VAR_057526 CA224138262 rs34136263	59	G>R		No	ClinGen UniProt TOPMed dbSNP gnomAD
rs1423190208 CA381510548	63	G>R		No	ClinGen gnomAD
CA6135975 rs778905177	65	T>A		No	ClinGen ExAC gnomAD
CA381510420 rs1254065816	66	R>G		No	ClinGen TOPMed
CA381510410 rs1449341558	66	R>L		No	ClinGen TOPMed
rs1241572318 CA381510401	67	L>Q		No	ClinGen gnomAD
CA224138069 rs970742604	68	Q>R		No	ClinGen TOPMed
CA381510353 rs1410600344	69	R>H		No	ClinGen TOPMed
CA6135971 rs755797510	70	W>G		No	ClinGen ExAC gnomAD
CA381510307 rs1388330911	72	R>P		No	ClinGen TOPMed gnomAD
rs1388330911 CA381510308	72	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6135970 COSM255412 rs750048961	72	R>W	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs761303603 CA6135968	76	M>V		No	ClinGen ExAC gnomAD
CA6135966 rs764671311	79	E>D		No	ClinGen ExAC gnomAD
CA381510171 rs1476107272	79	E>K		No	ClinGen gnomAD
CA6135967 rs774791582	79	E>V		No	ClinGen ExAC
CA381510141 rs1364222292	80	P>L		No	ClinGen TOPMed
CA381510143 rs1197697493	80	P>S		No	ClinGen gnomAD
CA6135965 rs201016876	81	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6135964 rs201016876	81	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6135962 rs375267187	82	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs201564577 CA6135958	87	V>G		No	ClinGen ExAC gnomAD
CA6135955 rs768662897	88	L>P		No	ClinGen ExAC
rs777656884 CA6135956	88	L>V		No	ClinGen ExAC gnomAD
CA6135954 rs749142710	89	K>E		No	ClinGen ExAC
rs780280311 CA6135953	90	T>N		No	ClinGen ExAC
rs1590905892 CA381509992	90	T>P		No	ClinGen Ensembl
CA381509979 rs1590905872	91	H>P		No	ClinGen Ensembl
rs1231372806 CA381509962	93	G>E		No	ClinGen gnomAD
CA6135949 rs956837296	93	G>R		No	ClinGen TOPMed gnomAD
CA381509956 rs1590905840	94	D>A		No	ClinGen Ensembl
CA6135948 rs750725004	95	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6135947 rs573079999	96	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6135946 rs757680383	96	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs1417413371 CA381509875	100	S>I		No	ClinGen TOPMed gnomAD
rs1417413371 CA381509877	100	S>N		No	ClinGen TOPMed gnomAD
rs757590272 CA6135922	101	L>P		No	ClinGen ExAC gnomAD
CA381509809 rs751903034	103	H>P		No	ClinGen ExAC gnomAD
CA6135921 rs751903034	103	H>R		No	ClinGen ExAC gnomAD
rs778296106 CA6135920	104	L>F		No	ClinGen ExAC gnomAD
rs141546876 CA6135918	105	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140664272 COSM429700 COSM429701 CA6135919	105	Y>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA6135917 rs371468798	107	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1401649620 CA381509779	107	L>V		No	ClinGen gnomAD

No associated diseases with Q9HCU8

No regional properties for Q9HCU8

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9HCU8

Functions

		Description
EC Number
Subcellular Localization	Nucleus	Partially recruited to DNA damage sites within 2 hours following UV irradiation, before degradation
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
delta DNA polymerase complex	A multimeric DNA polymerase enzyme complex which differs in composition amongst species; in humans it is a heterotetramer of four subunits of approximately 125, 50, 68 and 12kDa, while in S. cerevisiae, it has three different subunits which form a heterotrimer, and the active enzyme is a dimer of this heterotrimer. Functions in DNA replication, mismatch repair and excision repair.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

3 GO annotations of biological process

Name	Definition
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 endothelial cell proliferation	Any process that activates or increases the rate or extent of endothelial cell proliferation.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3T0X9	POLD4	DNA polymerase delta subunit 4	Bos taurus (Bovine)	PR
Q9CWP8	Pold4	DNA polymerase delta subunit 4	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGRKRLITDS	YPVVKRREGP	AGHSKGELAP	ELGEEPQPRD	EEEAELELLR	QFDLAWQYGP
70	80	90	100
CTGITRLQRW	CRAKQMGLEP	PPEVWQVLKT	HPGDPRFQCS	LWHLYPL