AiPD: Autoinhibited Protein Database

P33316

Gene name	DUT
Protein name	Deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial
Names	dUTPase, dUTP pyrophosphatase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1854
EC number	3.6.1.23: In phosphorus-containing anhydrides
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

53-131 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

53-131 (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

11 structures for P33316

Entry ID	Method	Resolution	Chain	Position	Source
1Q5H	X-ray	200 A	A/B/C	112-252	PDB
1Q5U	X-ray	200 A	X/Y/Z	112-252	PDB
2HQU	X-ray	220 A	A/B/C	94-252	PDB
3ARA	X-ray	170 A	A/B/C	94-252	PDB
3ARN	X-ray	180 A	A/B/C	94-252	PDB
3EHW	X-ray	180 A	A/B/C/X/Y/Z	94-252	PDB
4MZ5	X-ray	210 A	A/C	97-109	PDB
4MZ6	X-ray	188 A	A/C	97-109	PDB
5H4J	X-ray	180 A	A	94-252	PDB
7PWJ	X-ray	194 A	AAA/BBB/DDD	111-252	PDB
AF-P33316-F1	Predicted				AlphaFoldDB

210 variants for P33316

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs373184762 VAR_087697 CA7547771	142	Y>C	BMFDMS [UniProt]	Yes	ClinGen ESP ExAC TOPMed gnomAD UniProt
rs767416846 CA7547795 VAR_087698	173	R>W	BMFDMS; unknown pathological significance [UniProt]	Yes	ClinGen ExAC TOPMed gnomAD UniProt
rs771743286 CA7547850 VAR_087699	227	Y>C	BMFDMS; unknown pathological significance [UniProt]	Yes	ClinGen ExAC gnomAD UniProt
CA392325670 rs1230533308	2	T>I		No	ClinGen gnomAD
rs1488586854 CA392325682	3	P>H		No	ClinGen TOPMed
CA392325696 rs1218681837	4	L>F		No	ClinGen TOPMed
CA7547669 rs754260188	4	L>R		No	ClinGen ExAC gnomAD
CA269490364 rs975947001	6	P>L		No	ClinGen gnomAD
rs1230888460 CA392326100	6	P>S		No	ClinGen gnomAD
rs1457975566 CA392326110	7	R>C		No	ClinGen gnomAD
rs757601238 CA7547670	8	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1348730050 CA392326150	9	A>V		No	ClinGen gnomAD
rs757839418 CA7547673	12	Y>*		No	ClinGen ExAC gnomAD
rs746429675 CA7547672	12	Y>D		No	ClinGen ExAC gnomAD
rs149324355 CA7547674	13	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1421954896 CA392326217	13	H>P		No	ClinGen gnomAD
rs768332827 CA392326227	13	H>Q		No	ClinGen ExAC gnomAD
rs149324355 CA7547675	13	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392326240 rs1368511724	14	F>S		No	ClinGen TOPMed
CA392326251 rs1295391615	15	L>F		No	ClinGen TOPMed
TCGA novel	15	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392326262 rs1364903552	16	T>K		No	ClinGen TOPMed
CA392326257 rs1425853986	16	T>P		No	ClinGen gnomAD
CA269490416 rs879386041	18	L>P		No	ClinGen TOPMed gnomAD
rs986860190 CA269490411	18	L>V		No	ClinGen TOPMed
rs942765075 CA269490422	19	L>F		No	ClinGen TOPMed gnomAD
CA392326313 rs1450574858	20	R>H		No	ClinGen gnomAD
CA392326328 rs1157806389	22	A>P		No	ClinGen TOPMed
CA7547678 rs747955385	23	M>I		No	ClinGen ExAC gnomAD
CA7547677 rs776310503	23	M>T		No	ClinGen ExAC gnomAD
CA392326340 rs1597477576	23	M>V		No	ClinGen Ensembl
CA392326354 rs1279609706	24	Q>P		No	ClinGen gnomAD
CA7547679 rs769538363	25	N>T		No	ClinGen ExAC gnomAD
rs1313766775 CA392326388	27	R>*		No	ClinGen gnomAD
rs1210602567 CA392326390	27	R>Q		No	ClinGen gnomAD
CA392326413 rs1188958031	30	R>Q		No	ClinGen TOPMed
CA7547682 rs767643936	31	Q>L		No	ClinGen ExAC gnomAD
CA7547683 rs767643936	31	Q>R		No	ClinGen ExAC gnomAD
rs562509314 CA7547684	32	R>T		No	ClinGen 1000Genomes ExAC gnomAD
CA392326444 rs1417587425	33	A>V		No	ClinGen gnomAD
CA7547685 rs28381099	34	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7547686 rs754054381	35	A>G		No	ClinGen ExAC gnomAD
CA392326467 rs1358936280	36	A>T		No	ClinGen gnomAD
CA392326484 rs1284350042	37	V>G		No	ClinGen TOPMed
rs1312997429 CA392326499	39	S>Y		No	ClinGen TOPMed
rs930498436 CA392326504 CA269490476	40	G>R		No	ClinGen gnomAD
CA269490481 rs959100452	43	P>L		No	ClinGen TOPMed gnomAD
rs959100452 CA392326535	43	P>Q		No	ClinGen TOPMed gnomAD
CA269490487 rs1012405801	44	P>S		No	ClinGen TOPMed gnomAD
CA269490510 rs765527360	46	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7547688 rs765527360	46	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1277736588 CA392326573	48	A>G		No	ClinGen TOPMed gnomAD
CA269490521 rs978224868	48	A>T		No	ClinGen TOPMed gnomAD
rs1277736588 CA392326575	48	A>V		No	ClinGen TOPMed gnomAD
CA392326581 rs1218726114	49	A>T		No	ClinGen gnomAD
rs1286590721 CA392326590	50	Q>*		No	ClinGen TOPMed gnomAD
CA392326602 rs1566871065	51	H>P		No	ClinGen Ensembl
CA392326623 rs1426425595	53	I>T		No	ClinGen gnomAD
CA392326629 rs1192612925	54	P>T		No	ClinGen gnomAD
rs1479163878 CA392326643	55	R>P		No	ClinGen gnomAD
rs1240411723 CA392326641	55	R>W		No	ClinGen TOPMed gnomAD
rs1432202336 CA392326648	56	P>S		No	ClinGen TOPMed
rs527375516 CA7547691	57	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA392326670 rs1424913314	58	S>Y		No	ClinGen gnomAD
rs1161003959 CA392326682	59	S>R		No	ClinGen gnomAD
rs751042335 CA7547692	60	A>T		No	ClinGen ExAC
CA392326692 rs1361777292	60	A>V		No	ClinGen gnomAD
rs1419600310 CA392326702	61	G>V		No	ClinGen gnomAD
rs1056085301 CA269490548	62	R>C		No	ClinGen Ensembl
CA7547693 rs754534045	62	R>H		No	ClinGen ExAC gnomAD
rs1479105197 CA392326712	63	L>V		No	ClinGen TOPMed
CA392326749 rs1261571526	66	G>V		No	ClinGen TOPMed
CA269490564 rs924124103	68	R>H		No	ClinGen TOPMed
CA392326785 rs892143966	70	A>D		No	ClinGen TOPMed gnomAD
CA269490575 rs892143966	70	A>V		No	ClinGen TOPMed gnomAD
rs1258134033 CA392326792	71	S>R		No	ClinGen TOPMed
rs1566871146 CA392326823	74	G>R		No	ClinGen Ensembl
CA392326832 rs1203304240	75	A>D		No	ClinGen gnomAD
rs1009163067 CA392326830	75	A>P		No	ClinGen TOPMed gnomAD
rs1009163067 CA269490579	75	A>T		No	ClinGen TOPMed gnomAD
CA392326836 rs1282332949	76	A>T		No	ClinGen gnomAD
rs1252564718 CA392326861	78	W>*		No	ClinGen gnomAD
rs1467282990 CA392326872	80	G>S		No	ClinGen TOPMed gnomAD
CA392326878 rs1180950161	81	E>K		No	ClinGen gnomAD
CA392326881 rs1396531481	81	E>V		No	ClinGen TOPMed
CA7547694 rs780887236	82	L>F		No	ClinGen ExAC gnomAD
rs780887236 CA392326886	82	L>I		No	ClinGen ExAC gnomAD
rs574308928 CA7547695	83	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs769562630 CA7547696	86	G>R		No	ClinGen ExAC TOPMed gnomAD
CA269490600 rs997059089	87	G>E		No	ClinGen TOPMed gnomAD
rs1319818877	87	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1463550301 CA392326915	87	G>R		No	ClinGen TOPMed
CA392326919 rs997059089	87	G>V		No	ClinGen TOPMed gnomAD
rs1319818877	88	S>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1028908482 CA269490609	89	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	92	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs987277458 CA269490627	93	P>Q		No	ClinGen gnomAD
rs1278834840 CA392327062	94	E>G		No	ClinGen TOPMed
rs751993323 CA7547728	95	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7547727 rs766799390	95	T>P		No	ClinGen ExAC gnomAD
CA7547731 rs752176645	96	P>L		No	ClinGen ExAC gnomAD
rs766999002 CA7547730	96	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392327075 rs766999002	96	P>T		No	ClinGen ExAC TOPMed gnomAD
CA269491156 rs753600497	98	I>L		No	ClinGen ExAC TOPMed gnomAD
CA7547734 rs753600497	98	I>V		No	ClinGen ExAC TOPMed gnomAD
CA269491163 rs1001521114	100	P>L		No	ClinGen TOPMed gnomAD
rs28381104 VAR_022314 RCV000785702 CA7547735	100	P>S		No	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1420211184 CA392327122	101	S>N		No	ClinGen gnomAD
rs1430784919 CA392327144	103	R>W		No	ClinGen TOPMed
rs372700558 CA269491166	104	A>T		No	ClinGen ESP TOPMed gnomAD
CA392327156 rs1597478686	104	A>V		No	ClinGen Ensembl
rs1303608984 CA392327161	105	R>Q		No	ClinGen gnomAD
CA392327159 rs1380753544	105	R>W		No	ClinGen TOPMed gnomAD
CA269491181 rs1034027057	106	P>S		No	ClinGen Ensembl
CA392327182 rs1301671733	107	A>V		No	ClinGen gnomAD
CA392327202 rs1597478734	109	V>G		No	ClinGen Ensembl
rs1484573675 CA392327209	110	G>D		No	ClinGen gnomAD
CA392327204 rs1259629972	110	G>S		No	ClinGen gnomAD
rs1211286037 CA392327221	111	G>V		No	ClinGen gnomAD
rs1201998335 CA392327242	113	Q>E		No	ClinGen TOPMed
rs1597478771 CA392327267	115	R>H		No	ClinGen Ensembl
rs1158203143 CA392327280	116	F>L		No	ClinGen gnomAD
rs773422163 CA7547742	116	F>S		No	ClinGen ExAC gnomAD
CA7547743 rs749520057	117	A>V		No	ClinGen ExAC gnomAD
CA7547744 rs771224131	118	R>G		No	ClinGen ExAC TOPMed gnomAD
CA392327293 rs1229586760	118	R>Q		No	ClinGen TOPMed
rs771224131 CA7547745	118	R>W		No	ClinGen ExAC TOPMed gnomAD
CA392327301 rs1395551589	119	L>F		No	ClinGen gnomAD
CA392327299 rs1395551589	119	L>V		No	ClinGen gnomAD
CA392327317 rs1305647127	121	E>K		No	ClinGen TOPMed
CA392327341 rs1597478837	123	A>T		No	ClinGen Ensembl
rs1177226577 CA392327352	124	T>A		No	ClinGen Ensembl
CA392327381 rs1306851233	127	T>N		No	ClinGen gnomAD
CA392327386 rs1396333622	128	R>G		No	ClinGen TOPMed
rs1211434726 CA392327405	130	S>P		No	ClinGen gnomAD
rs1458003329 CA392327418	131	A>V		No	ClinGen TOPMed gnomAD
CA392327419 rs1176575955	132	R>C		No	ClinGen gnomAD
CA392327420 rs1176575955	132	R>G		No	ClinGen gnomAD
CA392327424 rs1183327518	132	R>H		No	ClinGen TOPMed gnomAD
CA392327432 rs1464004081	133	A>S		No	ClinGen TOPMed
rs1425458153 CA392327469	136	Y>C		No	ClinGen gnomAD
rs1597480605 CA392328216	141	A>D		No	ClinGen Ensembl
rs750160491 CA7547772	143	D>G		No	ClinGen ExAC gnomAD
CA392328260 rs1286437250	145	T>A		No	ClinGen gnomAD
CA392328267 rs1197105404	145	T>I		No	ClinGen gnomAD
rs201190039 CA269492483	147	P>L		No	ClinGen 1000Genomes
rs776380602 CA269492495	148	P>L		No	ClinGen Ensembl
rs1215360855 CA392328298	149	M>V		No	ClinGen gnomAD
TCGA novel	151	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1431873935 CA392328345	153	V>I		No	ClinGen TOPMed
rs1424496502 CA392328371	156	T>M		No	ClinGen TOPMed
rs1055496942 CA269492512	158	I>F		No	ClinGen TOPMed
TCGA novel	158	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7547775 rs751398863	161	A>V		No	ClinGen ExAC gnomAD
CA392328428 rs1453118340	165	G>A		No	ClinGen gnomAD
rs753882201 CA7547778	168	G>V		No	ClinGen ExAC gnomAD
rs1277928950 CA392328566	171	A>V		No	ClinGen gnomAD
CA269493458 rs202180121	172	P>S		No	ClinGen 1000Genomes
CA392328582 rs1234153570	173	R>Q		No	ClinGen gnomAD
rs1332913071 CA392328591	174	S>P		No	ClinGen gnomAD
CA392328604 rs373308210	175	G>A		No	ClinGen ESP TOPMed gnomAD
rs373308210 CA269493468	175	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA392328599 rs1197975153	175	G>R		No	ClinGen gnomAD
CA392328623 rs1362952820	177	A>T		No	ClinGen TOPMed
CA7547797 rs757322113	178	A>T		No	ClinGen ExAC TOPMed gnomAD
rs778967652 CA7547798	179	K>E		No	ClinGen ExAC gnomAD
CA392328707 rs1377482095	184	V>I		No	ClinGen TOPMed gnomAD
CA269447386 rs763412243	189	I>T		No	ClinGen Ensembl
TCGA novel	191	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392314983 rs1205430094	193	Y>F		No	ClinGen TOPMed
CA392315053 rs1193375853	198	G>V		No	ClinGen gnomAD
rs773921903 CA7547811	199	V>G		No	ClinGen ExAC TOPMed gnomAD
rs759310753 CA7547812	201	L>P		No	ClinGen ExAC gnomAD
rs767365686 CA7547813	204	F>S		No	ClinGen ExAC gnomAD
TCGA novel	209	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA269447458 rs957933876	211	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	214	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs989363911 CA269447461	216	R>*		No	ClinGen TOPMed gnomAD
CA392316200 rs911063006	216	R>L		No	ClinGen TOPMed gnomAD
CA269447464 COSM3816220 rs911063006 COSM3816219	216	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA269447467 rs942527556	218	A>V		No	ClinGen Ensembl
CA392316219 rs1167350847	219	Q>H		No	ClinGen gnomAD
CA7547843 rs756480484	219	Q>R		No	ClinGen ExAC gnomAD
rs749824659 CA7547845	223	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	224	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7547846 rs756717556	224	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA269447473 rs936058767	224	R>W		No	ClinGen TOPMed gnomAD
rs922365666 CA269447482	225	I>T		No	ClinGen Ensembl
rs771743286 CA392316267	227	Y>F		No	ClinGen ExAC gnomAD
CA7547849 rs745473793	227	Y>N		No	ClinGen ExAC gnomAD
CA392316271 rs1271188758	228	P>T		No	ClinGen TOPMed
CA7547852 rs775172651	230	I>T		No	ClinGen ExAC
CA392316302 rs1333653241	232	E>A		No	ClinGen gnomAD
rs1211611556 CA392316307	233	V>I		No	ClinGen gnomAD
CA7547853 rs746794743	234	Q>R		No	ClinGen ExAC gnomAD
CA392316436 rs1437059937	235	A>D		No	ClinGen gnomAD
CA7547872 rs779679093	235	A>S		No	ClinGen ExAC gnomAD
rs768442455 CA7547874	238	D>G		No	ClinGen ExAC gnomAD
CA7547875 rs780874489	239	T>A		No	ClinGen ExAC TOPMed gnomAD
rs371555609 CA7547877	240	E>K		No	ClinGen ESP TOPMed
CA7547880 rs565270265	242	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7547879 rs565270265	242	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA269447599 rs1802838	242	G>V		No	ClinGen Ensembl
CA392316524 rs1295061019	243	S>L		No	ClinGen TOPMed gnomAD
CA392316540 rs1349972801	245	G>C		No	ClinGen gnomAD
CA392316550 rs1252151915	246	F>V		No	ClinGen TOPMed
rs759671140 CA7547881	248	S>F		No	ClinGen ExAC TOPMed gnomAD
CA269447603 rs3191517	249	T>P		No	ClinGen Ensembl
rs532656179 CA7547883	251	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs772341797 CA7547882	251	K>R		No	ClinGen ExAC gnomAD

No associated diseases with P33316

2 regional properties for P33316

Type	Name	Position	InterPro Accession
domain	dUTPase-like	122 - 250	IPR029054
domain	dUTPase, trimeric	134 - 221	IPR033704

Functions

		Description
EC Number	3.6.1.23	In phosphorus-containing anhydrides
Subcellular Localization	[Isoform 2]: Nucleus ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
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.
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
dUTP diphosphatase activity	Catalysis of the reaction: dUTP + H2O = dUMP + H+ + diphosphate.
magnesium ion binding	Binding to a magnesium (Mg) ion.
RNA binding	Binding to an RNA molecule or a portion thereof.

5 GO annotations of biological process

Name	Definition
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.
dTMP biosynthetic process	The chemical reactions and pathways resulting in the formation of dTMP, deoxyribosylthymine monophosphate (2'-deoxyribosylthymine 5'-phosphate).
dUMP biosynthetic process	The chemical reactions and pathways resulting in the formation of dUMP, deoxyuridine monophosphate (2'-deoxyuridine 5'-phosphate).
dUTP catabolic process	The chemical reactions and pathways resulting in the breakdown of dUTP, deoxyuridine (5'-)triphosphate.
nucleobase-containing compound metabolic process	Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MTPLCPRPAL	CYHFLTSLLR	SAMQNARGAR	QRAEAAVLSG	PGPPLGRAAQ	HGIPRPLSSA
70	80	90	100	110	120
GRLSQGCRGA	STVGAAGWKG	ELPKAGGSPA	PGPETPAISP	SKRARPAEVG	GMQLRFARLS
130	140	150	160	170	180
EHATAPTRGS	ARAAGYDLYS	AYDYTIPPME	KAVVKTDIQI	ALPSGCYGRV	APRSGLAAKH
190	200	210	220	230	240
FIDVGAGVID	EDYRGNVGVV	LFNFGKEKFE	VKKGDRIAQL	ICERIFYPEI	EEVQALDDTE
250
RGSGGFGSTG	KN