AiPD: Autoinhibited Protein Database

Q96BW1

Gene name	UPRT
Protein name	Uracil phosphoribosyltransferase homolog
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:139596
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

51-122 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

51-122 (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

1 structures for Q96BW1

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96BW1-F1	Predicted				AlphaFoldDB

128 variants for Q96BW1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
COSM1651570 rs1270700952 COSM1125287 CA413679555	3	T>M	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs745406149 CA10455631	6	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs745406149 CA413679583	6	Q>R		No	ClinGen ExAC TOPMed gnomAD
COSM1138206 CA413679677 rs1207803158	15	N>K	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1466085842 CA413679675	15	N>S		No	ClinGen gnomAD
rs1237094867 CA413679688	17	Q>E		No	ClinGen gnomAD
rs769663047 CA10455632	17	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1183848267 CA413679694	18	V>I		No	ClinGen gnomAD
TCGA novel	19	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413679722 rs1472310698	22	S>A		No	ClinGen TOPMed gnomAD
CA413679720 rs1472310698	22	S>T		No	ClinGen TOPMed gnomAD
CA413679731 rs1217319920	23	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA413679739 rs1602486189	25	S>G		No	ClinGen Ensembl
rs762866137 CA10455634	27	E>K		No	ClinGen ExAC gnomAD
CA413679752 rs762866137	27	E>Q		No	ClinGen ExAC gnomAD
CA10455635 rs763940821	28	Q>*		No	ClinGen ExAC gnomAD
CA413679769 rs774066836	29	L>P		No	ClinGen ExAC gnomAD
rs774066836 CA10455636	29	L>R		No	ClinGen ExAC gnomAD
TCGA novel	30	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762066776 CA10455637	31	P>S		No	ClinGen ExAC gnomAD
TCGA novel	32	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413679780 rs1448219078	32	G>S		No	ClinGen gnomAD
rs1304241553 CA413679814	37	D>A		No	ClinGen gnomAD
rs1001275614 CA331348133	38	H>L		No	ClinGen TOPMed
rs750470762 CA10455639	38	H>Q		No	ClinGen ExAC gnomAD
rs767885816 CA10455638	38	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA10455640 rs140682033	40	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	41	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA331348134 TCGA novel rs994215977	41	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA10455641 rs766604640	41	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA413679854 rs1444940738	44	A>T		No	ClinGen TOPMed
rs754352219 CA10455642	45	S>Y		No	ClinGen ExAC gnomAD
CA10455643 rs755487762	46	R>S		No	ClinGen ExAC TOPMed gnomAD
rs779304710 CA10455644	47	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1212432272 CA413679886	49	V>L		No	ClinGen gnomAD
rs756852397 CA10455646	56	A>G		No	ClinGen ExAC gnomAD
CA10455647 rs780838558	57	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	61	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1479722154 CA413679962	61	P>S		No	ClinGen gnomAD
CA413679977 rs1396310869	63	E>D		No	ClinGen TOPMed
CA10455649 rs769290211	63	E>K		No	ClinGen ExAC gnomAD
rs774922160 CA10455650	65	D>H		No	ClinGen ExAC gnomAD
rs749231284 CA10455651	67	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	68	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413680002 rs1408662633	68	A>T		No	ClinGen gnomAD
CA413680018 rs1308060743	70	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	71	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413680032 rs144630001	72	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10455652 rs144630001	72	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA413680039 rs1434125791	73	S>R		No	ClinGen gnomAD
rs774158580 CA10455653	74	L>P		No	ClinGen ExAC TOPMed gnomAD
CA413680071 rs1220800811	78	G>D		No	ClinGen gnomAD
rs12838505 CA331348135	79	N>T		No	ClinGen Ensembl
rs1243260384 CA413680109	84	D>H		No	ClinGen TOPMed gnomAD
CA413680139 rs1341666562	87	S>R		No	ClinGen gnomAD
CA413680138 rs1272712520	87	S>T		No	ClinGen gnomAD
CA413680152 rs1206180603	89	D>V		No	ClinGen gnomAD
rs1449956721 CA413680220	99	D>V		No	ClinGen gnomAD
CA413680227 rs1569280173	100	C>Y		No	ClinGen Ensembl
rs767779092 COSM3096665 COSM3096666 CA10455655	101	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs773561448 CA10455656	102	L>H		No	ClinGen ExAC TOPMed gnomAD
COSM3800756 COSM3800755 rs199953225 CA10455658	104	R>Q	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs761031405 CA331348136	104	R>W		No	ClinGen ExAC TOPMed gnomAD
rs753586506 CA331348137	105	Q>H		No	ClinGen TOPMed
rs753903896 CA10455659	105	Q>K		No	ClinGen ExAC gnomAD
CA10455661 rs765683386	106	I>M		No	ClinGen ExAC TOPMed gnomAD
rs755470264 CA10455660	106	I>V		No	ClinGen ExAC gnomAD
rs753049923 CA10455662	107	G>E		No	ClinGen ExAC gnomAD
CA413680264 rs1451140478	107	G>R		No	ClinGen TOPMed
CA413680274 rs1322803551	108	A>E		No	ClinGen gnomAD
CA413680269 rs1403153569	108	A>T		No	ClinGen gnomAD
rs1364203655 CA413680316	115	M>T		No	ClinGen gnomAD
rs1007131985 CA331348138	115	M>V		No	ClinGen Ensembl
rs755817869 CA10455666	119	I>L		No	ClinGen ExAC gnomAD
CA331348139 rs748782249	120	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10455668 rs748782249	120	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10455667 rs779588025	120	R>W		No	ClinGen ExAC gnomAD
rs1012122798 CA331348140	125	I>V		No	ClinGen gnomAD
rs1207423387 CA413680395	127	R>C		No	ClinGen TOPMed gnomAD
CA413680402 rs1188784195	128	D>G		No	ClinGen gnomAD
rs771975802 CA10455672	128	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	132	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	134	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10455692 rs748071556	137	M>V		No	ClinGen ExAC gnomAD
rs1328386651 CA413680980	154	Q>R		No	ClinGen TOPMed
rs1381661226 CA413680993	156	P>S		No	ClinGen TOPMed
CA413681034 rs1292260976	159	E>G		No	ClinGen gnomAD
CA413681048 rs1315348539	160	C>F		No	ClinGen TOPMed
rs773297643 CA331349734	161	M>I		No	ClinGen Ensembl
CA331349733 rs768788815	161	M>V		No	ClinGen TOPMed
rs1390713090 CA413681080	163	T>N		No	ClinGen gnomAD
TCGA novel	166	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs900071694 CA331349798	169	K>Q		No	ClinGen Ensembl
rs970151865 CA331349799	171	E>D		No	ClinGen TOPMed gnomAD
CA10455729 rs752194693	174	K>E		No	ClinGen ExAC gnomAD
rs1319428713 CA413681318	182	V>F		No	ClinGen gnomAD
rs1195653520 CA413681346	185	M>L		No	ClinGen gnomAD
TCGA novel	194	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	196	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763677284 CA10455753	196	R>Q		No	ClinGen ExAC gnomAD
CA331349962 rs957269426	198	C>F		No	ClinGen Ensembl
CA331349963 rs368655148	203	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs1255693735 CA413681603	203	R>L		No	ClinGen gnomAD
rs751120673 CA10455754	205	G>R		No	ClinGen ExAC gnomAD
rs767516008 CA10455756	212	D>E		No	ClinGen ExAC gnomAD
CA10455757 rs145348422	225	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1329795642 CA413681862	227	P>Q		No	ClinGen gnomAD
COSM1469383 CA331349966 rs1003876010	231	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs755944011 CA10455758 COSM458055	231	R>W	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	232	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1236442905 CA413681937	234	V>I		No	ClinGen TOPMed
rs200426086 CA10455760	236	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA413682002 rs1434972869	240	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	242	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	245	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767295611 CA10455774	247	V>A		No	ClinGen ExAC gnomAD
rs1377727593 CA413682229	261	P>S		No	ClinGen TOPMed
CA331350035 rs1020092659	265	I>F		No	ClinGen Ensembl
rs984946155 CA331350036	272	T>A		No	ClinGen Ensembl
CA413682302 rs1424333325	272	T>I		No	ClinGen TOPMed
rs1181611332 CA413679272	279	I>V		No	ClinGen TOPMed
rs760561698 CA10455793	280	I>T		No	ClinGen ExAC gnomAD
rs1228241369 CA413679320	285	E>D		No	ClinGen gnomAD
CA10455795 rs776349931	288	I>V		No	ClinGen ExAC gnomAD
TCGA novel	291	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413679382 rs1195964742	295	P>T		No	ClinGen gnomAD
TCGA novel	297	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752949905 CA10455798	300	H>N		No	ClinGen ExAC gnomAD

No associated diseases with Q96BW1

1 regional properties for Q96BW1

Type	Name	Position	InterPro Accession
domain	Phosphoribosyltransferase domain	180 - 293	IPR000836

Functions

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

4 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

1 GO annotations of molecular function

Name	Definition
GTP binding	Binding to GTP, guanosine triphosphate.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P0A6I3	coaA	Pantothenate kinase	Escherichia coli (strain K12)	PR

10	20	30	40	50	60
MATELQCPDS	MPCHNQQVNS	ASTPSPEQLR	PGDLILDHAG	GNRASRAKVI	LLTGYAHSSL
70	80	90	100	110	120
PAELDSGACG	GSSLNSEGNS	GSGDSSSYDA	PAGNSFLEDC	ELSRQIGAQL	KLLPMNDQIR
130	140	150	160	170	180
ELQTIIRDKT	ASRGDFMFSA	DRLIRLVVEE	GLNQLPYKEC	MVTTPTGYKY	EGVKFEKGNC
190	200	210	220	230	240
GVSIMRSGEA	MEQGLRDCCR	SIRIGKILIQ	SDEETQRAKV	YYAKFPPDIY	RRKVLLMYPI
250	260	270	280	290	300
LSTGNTVIEA	VKVLIEHGVQ	PSVIILLSLF	STPHGAKSII	QEFPEITILT	TEVHPVAPTH

FGQKYFGTD