AiPD: Autoinhibited Protein Database

O95045

Gene name	UPP2
Protein name	Uridine phosphorylase 2
Names	UPase 2, UrdPase 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:151531
EC number	2.4.2.3: Pentosyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-45 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-45 (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

4 structures for O95045

Entry ID	Method	Resolution	Chain	Position	Source
2XRF	X-ray	230 A	A/B/C	23-317	PDB
3P0E	X-ray	200 A	A/B/C/D/E/F	21-314	PDB
3P0F	X-ray	154 A	A	21-314	PDB
AF-O95045-F1	Predicted				AlphaFoldDB

279 variants for O95045

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs137931668 CA1919318	2	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs548582071 CA59316201	3	S>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA349194973 rs1300615524	4	V>A		No	ClinGen TOPMed
rs1202309080 CA349194969	4	V>I		No	ClinGen gnomAD
rs770299234 CA1919321	7	A>V		No	ClinGen ExAC gnomAD
CA349194995 rs1432864936	8	S>T		No	ClinGen TOPMed
CA1919322 rs773476098	9	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1919323 rs773476098	9	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1558930922 CA349195007	10	R>K		No	ClinGen Ensembl
rs6710480 VAR_024431 CA1919325	10	R>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1428665372 CA349195016	11	S>F		No	ClinGen gnomAD
CA349195019 rs1185763585	12	M>L		No	ClinGen TOPMed
rs1574290730 CA349195022	12	M>T		No	ClinGen Ensembl
rs1574290735 CA349195037	14	S>C		No	ClinGen Ensembl
rs112035331 CA59316202	16	R>K		No	ClinGen Ensembl
CA349195057 rs1354996020	17	N>S		No	ClinGen gnomAD
CA349195062 rs1441236785	18	T>A		No	ClinGen gnomAD
CA1919327 rs767598683	18	T>I		No	ClinGen ExAC gnomAD
TCGA novel	20	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1919343 rs771344804	23	R>M		No	ClinGen ExAC TOPMed gnomAD
rs774641233 CA1919344	23	R>S		No	ClinGen ExAC TOPMed gnomAD
rs771344804 CA349195108	23	R>T		No	ClinGen ExAC TOPMed gnomAD
CA349195118 rs1214479068	25	V>I		No	ClinGen gnomAD
TCGA novel	26	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146983869 CA1919346	27	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	29	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1919348 rs775552495	36	D>A		No	ClinGen ExAC gnomAD
rs760847296 CA1919349	37	E>D		No	ClinGen ExAC gnomAD
rs1218044794 CA349195219	38	D>E		No	ClinGen TOPMed gnomAD
CA349195237 rs1475071574	41	Y>C		No	ClinGen gnomAD
CA1919351 rs377159824	45	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs550400219 CA1919352	47	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs141794444 CA1919354	49	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs149571410 CA1919357	50	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs754704468 CA1919356	50	H>R		No	ClinGen ExAC gnomAD
rs751356556 CA1919355	50	H>Y		No	ClinGen ExAC gnomAD
rs761429229 CA59316642	51	N>S		No	ClinGen Ensembl
rs1247190001 CA349195320	54	A>E		No	ClinGen gnomAD
CA1919359 rs374018334	55	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1490614264 CA349195325	55	M>V		No	ClinGen TOPMed
rs777135988 CA1919360	57	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1225659963 CA349195339	57	G>R		No	ClinGen TOPMed gnomAD
CA1919362 rs146852799	59	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1220948950 CA349195358	60	K>E		No	ClinGen gnomAD
CA349195363 rs1244911046	60	K>N		No	ClinGen gnomAD
rs1051287754 CA59317628	62	V>A		No	ClinGen TOPMed gnomAD
CA349195671 rs1176376772	62	V>F		No	ClinGen gnomAD
CA349195669 rs1176376772	62	V>I		No	ClinGen gnomAD
rs369786499 CA1919388	63	C>Y		No	ClinGen ESP ExAC gnomAD
CA349195685 rs1402494356	64	V>A		No	ClinGen TOPMed
CA349195682 rs1329886469	64	V>L		No	ClinGen gnomAD
CA349195688 rs768718649	65	G>C		No	ClinGen ExAC TOPMed gnomAD
rs373160807 CA1919391	65	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA1919390 rs768718649	65	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1406773412 CA349195691	66	G>R		No	ClinGen TOPMed
rs1222936229 CA349195699	67	S>C		No	ClinGen TOPMed gnomAD
rs1222936229 CA349195698	67	S>G		No	ClinGen TOPMed gnomAD
rs1222936229 CA349195697	67	S>R		No	ClinGen TOPMed gnomAD
CA349195708 rs1196163610	68	P>R		No	ClinGen gnomAD
CA1919393 rs769965631	68	P>S		No	ClinGen ExAC gnomAD
rs751287533 CA349195714	69	N>I		No	ClinGen TOPMed gnomAD
rs774501609 CA1919394	69	N>K		No	ClinGen ExAC gnomAD
CA59317629 rs751287533	69	N>S		No	ClinGen TOPMed gnomAD
rs1479838051 CA349195718	70	R>K		No	ClinGen gnomAD
CA1919396 rs759381820	71	M>I		No	ClinGen ExAC TOPMed gnomAD
CA349195734 rs1424310678	72	K>T		No	ClinGen gnomAD
rs865989847 CA59317630	75	A>E		No	ClinGen Ensembl
rs1479469379 CA349195778	78	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
RCV000958586 rs7561584 VAR_034580 CA1919397	78	M>L		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA349195799 rs1476673764	81	E>G		No	ClinGen gnomAD
CA1919398 rs370910787	82	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA349195804 rs370910787	82	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1919401 rs753455771	83	G>E		No	ClinGen ExAC gnomAD
CA349195808 CA1919400 rs147784693	83	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	85	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756827705 CA1919402	86	E>*		No	ClinGen ExAC gnomAD
CA349195833 rs1204261158	86	E>D		No	ClinGen TOPMed
rs1404423030 CA349195832	86	E>V		No	ClinGen gnomAD
rs1299199224 CA349195835	87	A>T		No	ClinGen gnomAD
CA1919403 rs372810681	87	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA349195842 rs1269892433	88	E>K		No	ClinGen TOPMed
CA349195853 rs1574301361	89	E>D		No	ClinGen Ensembl
rs530097928 CA59317631	89	E>K		No	ClinGen 1000Genomes
rs758760578 CA1919405	90	D>E		No	ClinGen ExAC gnomAD
CA1919404 rs750938118	90	D>G		No	ClinGen ExAC gnomAD
CA1919406 rs369823277	91	I>K		No	ClinGen ESP ExAC gnomAD
rs747284053 CA1919407	92	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	93	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	96	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349195928 rs1219707240	100	R>S		No	ClinGen gnomAD
CA1919409 rs755351863	101	Y>H		No	ClinGen ExAC gnomAD
rs542207449 CA59317632	102	C>R		No	ClinGen 1000Genomes gnomAD
rs748381842 CA1919412	102	C>Y		No	ClinGen ExAC gnomAD
rs138045238 CA59317634	103	M>T		No	ClinGen ESP TOPMed gnomAD
TCGA novel	103	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349195953 rs1324389445	104	Y>H		No	ClinGen TOPMed
rs1165795041 CA349195962	105	K>T		No	ClinGen TOPMed gnomAD
COSM3406962 CA1919415 rs773369298	107	G>R	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA59317635 rs200030120	108	P>R		No	ClinGen TOPMed gnomAD
CA349195979 rs1387204420	108	P>S		No	ClinGen gnomAD
rs745823382 CA1919416	110	L>I		No	ClinGen ExAC gnomAD
CA1919418 rs775378408	111	A>T		No	ClinGen ExAC gnomAD
CA349196001 rs1358363138	112	I>V		No	ClinGen gnomAD
rs888718123 CA59317636	113	S>G		No	ClinGen TOPMed gnomAD
rs1409817309 CA349196026	114	H>D		No	ClinGen gnomAD
CA59317915 rs949766164	115	G>D		No	ClinGen TOPMed
CA349196033 rs1444225477	115	G>S		No	ClinGen TOPMed gnomAD
rs867069663 CA59317916	116	M>I		No	ClinGen TOPMed
TCGA novel	117	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1177102138 CA349196051	117	G>V		No	ClinGen gnomAD
rs200975180 CA1919439	118	I>T		No	ClinGen ExAC TOPMed gnomAD
rs965222613 CA59317917	120	S>C		No	ClinGen gnomAD
CA349196064 rs1373695665	120	S>T		No	ClinGen gnomAD
CA349196083 rs1285968866	123	I>V		No	ClinGen gnomAD
rs1375246827 CA349196100	125	L>F		No	ClinGen TOPMed
rs202247564 CA59317918	126	H>Q		No	ClinGen gnomAD
CA1919440 rs769385960	127	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA59317919 rs368883207	128	L>V		No	ClinGen ESP
rs561347081 CA1919441	130	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA349196140 rs1312053941	131	L>S		No	ClinGen gnomAD
rs762412789 CA1919442	134	H>D		No	ClinGen ExAC gnomAD
rs1049257511 CA59317920	135	A>V		No	ClinGen TOPMed
CA1919445 rs148283386	136	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1919444 rs148283386	136	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765912196 CA1919443	136	R>W		No	ClinGen ExAC TOPMed gnomAD
rs767998501 CA1919446	138	C>R		No	ClinGen ExAC gnomAD
COSM3425355 CA59317922 rs901825125	139	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA59317923 rs916222866	141	T>I		No	ClinGen Ensembl
rs777906816 CA1919449	143	I>T		No	ClinGen ExAC gnomAD
TCGA novel	145	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM673627 rs757337316 CA1919451	146	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs906809089 CA59317926	146	G>V		No	ClinGen Ensembl
rs1461207981 COSM248221 CA349196237	147	T>A	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs940863707 CA59317927	149	G>R		No	ClinGen Ensembl
CA349196256 rs1574303656	150	G>A		No	ClinGen Ensembl
CA1919453 rs778993032	150	G>R		No	ClinGen ExAC gnomAD
CA349196261 rs1282083242	151	I>T		No	ClinGen gnomAD
rs746924197 CA1919454	151	I>V		No	ClinGen ExAC gnomAD
rs146063120 CA1919469	153	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA59318317 rs372476628	154	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs1574306504 CA349196310	158	V>I		No	ClinGen Ensembl
rs758447373 CA1919472	160	I>T		No	ClinGen ExAC gnomAD
CA1919473 rs781145130	161	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	162	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349196333 rs769538423	162	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1919475 rs769538423	162	D>Y		No	ClinGen ExAC gnomAD
rs565665420 CA1919476	163	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA59318318 rs150046978	164	A>V		No	ClinGen ESP TOPMed
rs747524179 CA1919478	168	F>C		No	ClinGen ExAC TOPMed gnomAD
rs773756435 CA1919480 CA1919479	168	F>L		No	ClinGen ExAC gnomAD
CA349196380 rs1268791610	169	F>S		No	ClinGen gnomAD
rs771679493 CA1919481	171	P>A		No	ClinGen ExAC gnomAD
rs761205005 CA349196397	172	R>G		No	ClinGen ExAC TOPMed gnomAD
rs764369730 CA349196399	172	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1919484 rs764369730	172	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1919483 rs761205005	172	R>W		No	ClinGen ExAC TOPMed gnomAD
rs148797309 CA1919485	175	Q>*		No	ClinGen ESP ExAC gnomAD
CA349196433 rs1208233722	177	I>T		No	ClinGen TOPMed gnomAD
rs1377178481 CA349196443	179	D>N		No	ClinGen gnomAD
CA1919488 rs771290161	181	I>F		No	ClinGen ExAC TOPMed gnomAD
rs758537311 CA1919489	181	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	182	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766435350 CA1919490	184	R>*		No	ClinGen ExAC TOPMed gnomAD
CA349196477 rs1306238971	184	R>Q		No	ClinGen Ensembl
CA59318320 rs777081915	187	E>K		No	ClinGen Ensembl
CA1919492 rs756015559	191	E>A		No	ClinGen ExAC gnomAD
rs375495894 CA1919493	192	L>M		No	ClinGen ESP ExAC gnomAD
CA349196548 rs1470958057	195	E>Q		No	ClinGen gnomAD
CA1919496 rs778750072	197	F>L		No	ClinGen ExAC gnomAD
CA349196572 rs1457216305	198	N>I		No	ClinGen gnomAD
CA349196571 rs1457216305	198	N>S		No	ClinGen gnomAD
CA349196578 rs1157629935	199	C>Y		No	ClinGen gnomAD
rs745513183 CA1919497	200	S>C		No	ClinGen ExAC gnomAD
CA349196591 rs1415418034	201	K>E		No	ClinGen gnomAD
TCGA novel	201	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1473278464 CA349196614	204	P>S		No	ClinGen gnomAD
CA349196626 rs1338984978	205	N>K		No	ClinGen gnomAD
CA349196633 rs1444607022	206	F>L		No	ClinGen gnomAD
CA1919498 rs147775009	207	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146951141 CA349196644	208	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1919499 rs146951141	208	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776978499 CA1919502	210	V>A		No	ClinGen ExAC gnomAD
CA1919501 rs140823834	210	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs576371075 CA1919503	212	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1558939229 CA349196661	212	H>Y		No	ClinGen Ensembl
CA1919504 rs765513197	213	T>K		No	ClinGen ExAC gnomAD
rs1471337989 COSM1231857 CA349196678	214	M>I	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs763107008 CA1919506	214	M>V		No	ClinGen ExAC TOPMed gnomAD
CA349196698 rs1200886548	217	Y>S		No	ClinGen gnomAD
rs1478634987 CA349196703	218	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA349196722 rs1316788054	220	Y>S		No	ClinGen Ensembl
CA349196733 rs1241239626	221	E>D		No	ClinGen TOPMed
rs1400472826 CA349196732	221	E>V		No	ClinGen gnomAD
rs1355225790 CA349196833	222	G>D		No	ClinGen TOPMed
rs1435549925 CA349196849	224	G>V		No	ClinGen gnomAD
CA1919523 rs773501859	225	R>*		No	ClinGen ExAC TOPMed gnomAD
rs35667202 CA1919524	225	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35667202 CA1919525	225	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1919527 rs551527386	227	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1919526 rs774534970	227	D>H		No	ClinGen ExAC TOPMed gnomAD
CA349196944 rs1207491397	232	S>C		No	ClinGen gnomAD
CA349196938 rs1207491397	232	S>F		No	ClinGen gnomAD
TCGA novel	232	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349196949 COSM1231856 rs1371674233	233	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs767491952 CA1919528	234	S>P		No	ClinGen ExAC gnomAD
rs753872900 CA1919531	236	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1165743019 CA349196997	237	K>E		No	ClinGen gnomAD
rs759424183	238	K>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1457482547 CA349197015	238	K>T		No	ClinGen gnomAD
CA59318571 rs868292208	240	D>E		No	ClinGen Ensembl
CA349197041 rs1403616619	240	D>V		No	ClinGen TOPMed
rs1558940266 CA349197035	240	D>Y		No	ClinGen Ensembl
rs1387133696 CA349197069	243	K>E		No	ClinGen gnomAD
CA59318572 rs955726710	243	K>N		No	ClinGen TOPMed
CA349197084 rs1457682728	244	R>T		No	ClinGen gnomAD
CA1919534 rs765153629	245	A>S		No	ClinGen ExAC gnomAD
rs1280878671 CA349197126	248	A>D		No	ClinGen gnomAD
CA349197122 rs138801990	248	A>P		No	ClinGen ESP TOPMed gnomAD
CA59318573 rs138801990	248	A>T		No	ClinGen ESP TOPMed gnomAD
CA349197137 rs1313001761	249	G>V		No	ClinGen gnomAD
CA1919536 rs566844935	251	R>T		No	ClinGen 1000Genomes ExAC gnomAD
rs779888478 CA1919537	253	I>T		No	ClinGen ExAC TOPMed gnomAD
CA349197230 rs1331908035	257	S>C		No	ClinGen TOPMed gnomAD
rs761426966 CA59318574	259	V>A		No	ClinGen Ensembl
CA349197253 rs1443199819	260	F>I		No	ClinGen TOPMed gnomAD
CA1919539 rs534154153	262	A>G		No	ClinGen 1000Genomes ExAC
rs1268015917 CA349197275	262	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs148126775 CA1919540	263	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA349197298 rs1463844461	264	C>R		No	ClinGen gnomAD
rs181975602 CA1919541	265	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs971586361 CA59318575	267	C>Y		No	ClinGen TOPMed
CA1919543 rs770249334	269	L>R		No	ClinGen ExAC gnomAD
rs150668711 CA59318576	270	K>E		No	ClinGen ESP
rs375955751 CA1919545	270	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs375955751 CA1919544	270	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	272	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	272	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349194608 rs1481368453	274	V>F		No	ClinGen gnomAD
rs1558944417 CA349194615	275	C>Y		No	ClinGen Ensembl
CA1919561 rs755603450	276	V>E		No	ClinGen ExAC gnomAD
rs967806646 CA59319737	277	T>I		No	ClinGen TOPMed gnomAD
rs1370733110 CA349194640	279	L>P		No	ClinGen gnomAD
TCGA novel	280	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1919564 rs373232429	280	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1221415862 CA349194658	282	L>F		No	ClinGen gnomAD
CA1919566 rs371644480	283	D>N	Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA349194701 rs1309073710	288	N>D		No	ClinGen gnomAD
rs775758432 CA1919569	288	N>S		No	ClinGen ExAC TOPMed gnomAD
CA349194703 rs775758432	288	N>T		No	ClinGen ExAC TOPMed gnomAD
CA349194711 rs1489444800	289	L>F		No	ClinGen TOPMed gnomAD
rs747125164 CA1919570	289	L>S		No	ClinGen ExAC TOPMed gnomAD
rs768848188 CA1919571	290	P>L		No	ClinGen ExAC TOPMed gnomAD
rs773336884 CA1919572	291	H>L		No	ClinGen ExAC TOPMed gnomAD
CA349194722 rs773336884	291	H>R		No	ClinGen ExAC TOPMed gnomAD
rs762924178 CA1919574	293	V>F		No	ClinGen ExAC TOPMed gnomAD
CA1919573 rs762924178	293	V>I		No	ClinGen ExAC TOPMed gnomAD
rs925599326 CA59319739	298	Q>H		No	ClinGen gnomAD
CA349194773 rs1393104862	299	Q>*		No	ClinGen TOPMed
CA1919575 rs773979017	299	Q>H		No	ClinGen ExAC gnomAD
CA1919577 rs767125794	300	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1919576 rs144945330	300	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA59319740 rs1056017545	301	P>S		No	ClinGen gnomAD
CA59319742 rs866717976	306	S>F		No	ClinGen TOPMed
CA59319741 rs374566098	306	S>P		No	ClinGen ESP TOPMed gnomAD
rs1452048370 CA349194817	307	N>D		No	ClinGen TOPMed
CA349194821 rs368713824	307	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1919579 rs752367511	307	N>S		No	ClinGen ExAC gnomAD
rs763584694 CA1919581	309	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1014463367 CA349194846	311	R>L		No	ClinGen TOPMed gnomAD
CA59319744 rs1014463367	311	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1919582 rs754359532	311	R>W		No	ClinGen ExAC TOPMed gnomAD
rs779353991 CA1919584	312	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs560916486 CA1919583	312	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1919585 rs200491821	313	L>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	314	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349194863 rs1574316599	315	L>F		No	ClinGen Ensembl
CA1919587 rs758753988	316	C>F		No	ClinGen ExAC gnomAD
CA1919586 rs758753988	316	C>Y		No	ClinGen ExAC gnomAD
CA1919588 rs546378601	317	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD

No associated diseases with O95045

2 regional properties for O95045

Type	Name	Position	InterPro Accession
domain	Nucleoside phosphorylase domain	60 - 309	IPR000845
conserved_site	Nucleoside phosphorylase, conserved site	113 - 128	IPR018016

Functions

		Description
EC Number	2.4.2.3	Pentosyltransferases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
type III intermediate filament	A type of intermediate filament, typically made up of one or more of the proteins vimentin, desmin, glial fibrillary acidic protein (GFAP), and peripherin. Unlike the keratins, the type III proteins can form both homo- and heteropolymeric IF filaments.

3 GO annotations of molecular function

Name	Definition
deoxyuridine phosphorylase activity	Catalysis of the reaction: deoxyuridine + phosphate = uracil + deoxy-D-ribose 1-phosphate.
identical protein binding	Binding to an identical protein or proteins.
uridine phosphorylase activity	Catalysis of the reaction: uridine + phosphate = uracil + alpha-D-ribose 1-phosphate.

5 GO annotations of biological process

Name	Definition
dCMP catabolic process	The chemical reactions and pathways resulting in the breakdown of dCMP, deoxycytidine monophosphate.
nucleoside metabolic process	The chemical reactions and pathways involving a nucleoside, a nucleobase linked to either beta-D-ribofuranose (a ribonucleoside) or 2-deoxy-beta-D-ribofuranose, (a deoxyribonucleoside), e.g. adenosine, guanosine, inosine, cytidine, uridine and deoxyadenosine, deoxyguanosine, deoxycytidine and thymidine (= deoxythymidine).
UMP salvage	Any process which produces UMP, uridine monophosphate, from derivatives of it (e.g. cytidine, uridine, cytosine) without de novo synthesis.
uridine catabolic process	The chemical reactions and pathways resulting in the breakdown of uridine, uracil riboside, a ribonucleoside very widely distributed but occurring almost entirely as phosphoric esters in ribonucleotides and ribonucleic acids.
uridine metabolic process	The chemical reactions and pathways involving uridine, uracil riboside, a ribonucleoside very widely distributed but occurring almost entirely as phosphoric esters in ribonucleotides and ribonucleic acids.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8CGR7	Upp2	Uridine phosphorylase 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MASVIPASNR	SMRSDRNTYV	GKRFVHVKNP	YLDLMDEDIL	YHLDLGTKTH	NLPAMFGDVK
70	80	90	100	110	120
FVCVGGSPNR	MKAFALFMHK	ELGFEEAEED	IKDICAGTDR	YCMYKTGPVL	AISHGMGIPS
130	140	150	160	170	180
ISIMLHELIK	LLHHARCCDV	TIIRIGTSGG	IGIAPGTVVI	TDIAVDSFFK	PRFEQVILDN
190	200	210	220	230	240
IVTRSTELDK	ELSEELFNCS	KEIPNFPTLV	GHTMCTYDFY	EGQGRLDGAL	CSFSREKKLD
250	260	270	280	290	300
YLKRAFKAGV	RNIEMESTVF	AAMCGLCGLK	AAVVCVTLLD	RLDCDQINLP	HDVLVEYQQR
310
PQLLISNFIR	RRLGLCD