AiPD: Autoinhibited Protein Database

O60256

Gene name	PRPSAP2
Protein name	Phosphoribosyl pyrophosphate synthase-associated protein 2
Names	PRPP synthase-associated protein 2, 41 kDa phosphoribosypyrophosphate synthetase-associated protein, PAP41
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5636
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

189-267 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

189-267 (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

2 structures for O60256

Entry ID	Method	Resolution	Chain	Position	Source
2JI4	X-ray	255 A	A	13-369	PDB
AF-O60256-F1	Predicted				AlphaFoldDB

184 variants for O60256

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA8435258 rs755802625	3	C>Y		No	ClinGen ExAC gnomAD
CA8435259 rs777499681	4	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1271064416 CA398658331 COSM976358	5	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA398658373 rs1307777855	7	P>L		No	ClinGen TOPMed gnomAD
rs747565574 CA8435263	8	E>G		No	ClinGen ExAC gnomAD
CA8435264 rs769192674	9	L>V		No	ClinGen ExAC gnomAD
rs1455146977 CA398658437	12	K>*		No	ClinGen gnomAD
rs1184294027 CA398658445	12	K>R		No	ClinGen gnomAD
CA8435266 rs762251868	15	I>V		No	ClinGen ExAC TOPMed gnomAD
rs765470177 CA8435267	16	T>A		No	ClinGen ExAC TOPMed gnomAD
CA288480427 rs1025993235	16	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA288480431 rs887474957	17	K>N		No	ClinGen TOPMed gnomAD
rs375894535 CA8435268	18	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA288480447 rs1041212379	19	G>D		No	ClinGen Ensembl
CA8435269 rs143345926	22	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	23	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA288480453 rs868518153	27	S>L		No	ClinGen Ensembl
CA8435272 rs754933880	31	C>F		No	ClinGen ExAC gnomAD
CA398658812 rs754933880	31	C>Y		No	ClinGen ExAC gnomAD
CA398658864 rs1333128058	32	M>I		No	ClinGen gnomAD
rs199793178 CA8435275	33	E>A		No	ClinGen ExAC gnomAD
CA398658901 rs1242203515	33	E>D		No	ClinGen TOPMed
CA8435273 rs543700218	33	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA398659035 rs1484007372	39	A>S		No	ClinGen TOPMed
rs1485153342 CA398659565	41	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs927260307 CA288481179 COSM170717	41	R>W	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs935020427 CA288481183	43	G>E		No	ClinGen TOPMed
CA398659684 rs1597523039	44	V>G		No	ClinGen Ensembl
CA398659707 rs1383594880	45	E>K		No	ClinGen gnomAD
rs376920336 CA8435295	46	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs376920336 CA8435294	46	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1468467085 CA398659776	47	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA398659785 rs1270110977	48	K>*		No	ClinGen TOPMed
CA8435297 rs763928044	52	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8435298 rs753619688	54	E>*		No	ClinGen ExAC gnomAD
rs753619688 CA398660125	54	E>K		No	ClinGen ExAC gnomAD
rs915010572 CA288481219	56	N>D		No	ClinGen TOPMed
CA398662051 rs1336773373	61	V>L		No	ClinGen gnomAD
rs867315151 CA288485032	64	Q>*		No	ClinGen Ensembl
rs1261358467 CA398662139	64	Q>R		No	ClinGen gnomAD
CA8435315 rs760724775	66	S>T		No	ClinGen ExAC gnomAD
rs750128219 CA8435320 COSM141488	79	S>L	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. liver [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs764976325 CA8435319	79	S>P		No	ClinGen ExAC gnomAD
rs765950480 CA8435342	82	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA398663726 rs1294304091	84	T>A		No	ClinGen gnomAD
CA288487751 rs187668518	86	I>N		No	ClinGen 1000Genomes
rs144334691 CA8435343	86	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1260445598 CA398663746	87	M>T		No	ClinGen TOPMed
TCGA novel	93	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757819657 CA8435347	96	C>G		No	ClinGen ExAC gnomAD
CA8435348 rs779394846	98	T>I		No	ClinGen ExAC gnomAD
rs746216720 CA8435349	105	I>T		No	ClinGen ExAC gnomAD
rs1342024301 CA398663915	111	F>L		No	ClinGen gnomAD
CA8435352 rs376881433	113	Y>*		No	ClinGen ESP ExAC gnomAD
CA398663948 rs1292425849	116	Q>P		No	ClinGen TOPMed gnomAD
rs1292425849 CA398663949	116	Q>R		No	ClinGen TOPMed gnomAD
CA398663954 rs1275727535	117	C>R		No	ClinGen TOPMed
CA398663994 rs1335279295 CA398663990	119	M>I		No	ClinGen gnomAD
rs983106828 CA288487792	125	I>V		No	ClinGen TOPMed gnomAD
CA398664080 rs1348556583	126	V>A		No	ClinGen gnomAD
rs1026173378 CA288487794	126	V>L		No	ClinGen TOPMed gnomAD
rs748139895 CA8435356	128	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs376319376 CA8435358	131	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA398664150 rs1167462030	132	S>P		No	ClinGen TOPMed gnomAD
rs1283964478 CA398664163	133	M>V		No	ClinGen gnomAD
rs1434560384 CA398664197	135	C>G		No	ClinGen TOPMed
CA398664215 rs1452384062	136	K>Q		No	ClinGen gnomAD
rs1158666488 CA398664228	136	K>R		No	ClinGen gnomAD
TCGA novel	137	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA288489960 rs975235049	140	T>S		No	ClinGen Ensembl
rs763064538 CA288489965	142	L>V		No	ClinGen TOPMed gnomAD
CA398665365 rs1313021049	144	T>S		No	ClinGen TOPMed gnomAD
rs759323687 CA8435383	145	M>T		No	ClinGen ExAC gnomAD
CA8435382 rs774268642	145	M>V		No	ClinGen ExAC gnomAD
rs1480550262 CA398665395	146	D>N		No	ClinGen gnomAD
rs1390734082 CA398665424	148	H>P		No	ClinGen TOPMed
rs1170651503 CA398665429	148	H>Q		No	ClinGen TOPMed
rs1360247418 CA398665517	157	N>S		No	ClinGen Ensembl
CA8435385 rs1555551384	158	I>V		No	ClinGen Ensembl
TCGA novel	159	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	162	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1465368842 CA398665551	162	N>S		No	ClinGen TOPMed
CA8435388 CA398665557 rs374596090	163	L>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs374596090 CA398665558	163	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8435389 rs763612893	164	R>K		No	ClinGen ExAC gnomAD
CA288489996 rs764250766	169	L>V		No	ClinGen Ensembl
TCGA novel	176	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1438717703 CA398666676	178	P>L		No	ClinGen gnomAD
rs1353028527 CA398666835	184	V>I		No	ClinGen gnomAD
CA8435412 rs764186666	186	V>M		No	ClinGen ExAC TOPMed gnomAD
CA398666955 rs1430341181	191	A>T		No	ClinGen TOPMed
rs755603988 CA288479256	197	Q>L		No	ClinGen Ensembl
rs760877047 CA398655287	201	E>D		No	ClinGen ExAC TOPMed gnomAD
CA288479262 rs970906662	202	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs764385412 CA8435433	202	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA398655327 rs1210595918 COSM3387735	204	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	204	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139537704 CA8435435	206	G>E		No	ClinGen ESP ExAC TOPMed
CA8435436 rs765370145	211	H>R		No	ClinGen ExAC gnomAD
rs780059835 COSM976361 CA8435440	214	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA288479337 rs373802700	225	R>W		No	ClinGen ESP TOPMed
CA8435447 rs746435131	226	H>N		No	ClinGen ExAC gnomAD
CA398655755 rs1330834316	230	M>V		No	ClinGen TOPMed
CA398655779 rs1241687297	231	V>I		No	ClinGen gnomAD
CA8435449 rs775797876	232	R>K		No	ClinGen ExAC gnomAD
rs761118277 CA8435450	233	S>N		No	ClinGen ExAC gnomAD
rs776943098 CA8435452	236	A>G		No	ClinGen ExAC gnomAD
rs776943098 CA398655880	236	A>V		No	ClinGen ExAC gnomAD
CA398655886 rs762098241	237	I>L		No	ClinGen ExAC gnomAD
rs1203716311 CA398655893	237	I>T		No	ClinGen gnomAD
CA8435453 rs762098241	237	I>V		No	ClinGen ExAC gnomAD
rs1555561175 CA8435455	238	H>P		No	ClinGen Ensembl
rs763058406 CA8435458	239	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8435457 rs750526023	239	P>S		No	ClinGen ExAC gnomAD
rs766352997 CA8435459	240	S>G		No	ClinGen ExAC gnomAD
CA398655970 rs1597713627	241	L>P		No	ClinGen Ensembl
rs1248678392 CA398659578	250	E>*		No	ClinGen TOPMed gnomAD
CA398659633 rs1239526133	251	K>M		No	ClinGen TOPMed
rs200548082 CA288485603	254	I>V		No	ClinGen TOPMed gnomAD
rs766325318 CA8435480	255	T>M		No	ClinGen ExAC gnomAD
rs267604769 CA8435482	256	V>I		No	ClinGen ExAC gnomAD
CA288485632 rs866207130	258	G>S		No	ClinGen Ensembl
CA8435483 rs767401307	265	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8435484 rs752486623	267	I>V		No	ClinGen ExAC gnomAD
CA398662049 rs1205279277	271	I>V		No	ClinGen gnomAD
CA288487769 rs910109862	272	I>V		No	ClinGen TOPMed
rs373764009 CA8435531	274	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA398662169 rs1287529417	276	D>G		No	ClinGen TOPMed gnomAD
CA398662256 rs1235934813	280	A>D		No	ClinGen gnomAD
CA398662260 rs1235934813	280	A>V		No	ClinGen gnomAD
rs1256665177 CA398662264	281	A>S		No	ClinGen gnomAD
CA398662316 rs1317823989	284	T>N		No	ClinGen gnomAD
rs1199863630 CA398662334	285	L>P		No	ClinGen gnomAD
rs1239460264 CA398662341	286	K>E		No	ClinGen TOPMed gnomAD
rs1487249998 CA398662361	286	K>N		No	ClinGen gnomAD
CA398662400 rs1190210686	288	R>T		No	ClinGen gnomAD
rs1267616428 CA398662416	289	G>D		No	ClinGen TOPMed gnomAD
CA8435534 rs757877327	291	Y>C		No	ClinGen ExAC gnomAD
rs1443102459 CA398662444	291	Y>D		No	ClinGen TOPMed
rs1422715738 CA398662477	292	K>N		No	ClinGen gnomAD
CA8435535 rs765955896	294	F>S		No	ClinGen ExAC gnomAD
CA398662542 rs1402478969	296	M>L		No	ClinGen gnomAD
CA398662593 rs1434411992	297	A>V		No	ClinGen gnomAD
CA288487788 rs977910346	298	T>S		No	ClinGen TOPMed gnomAD
CA8435536 rs148635892	301	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	304	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276661755 CA398662767	306	A>T		No	ClinGen gnomAD
CA8435540 rs749621665	308	R>L		No	ClinGen ExAC gnomAD
CA8435539 rs749621665	308	R>Q		No	ClinGen ExAC gnomAD
rs1219764566 CA398662799	308	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8435542 rs371840452	309	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs779029267 CA8435541	309	R>W		No	ClinGen ExAC gnomAD
CA398662820 rs1597788901	310	I>V		No	ClinGen Ensembl
CA398662833 rs1265612575	311	E>K		No	ClinGen gnomAD
rs772179015 CA398662902	315	I>L		No	ClinGen ExAC gnomAD
CA8435543 rs772179015	315	I>V		No	ClinGen ExAC gnomAD
CA398663362 rs1235136804	322	N>D		No	ClinGen TOPMed
CA8435560 rs779308988	322	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8435561 rs376952436	324	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA288488536 rs199729642	324	I>V		No	ClinGen 1000Genomes
rs1567763268 CA398663380	325	P>A		No	ClinGen Ensembl
rs866437626 CA288488559	332	Q>*		No	ClinGen TOPMed gnomAD
rs866437626 CA398663430	332	Q>K		No	ClinGen TOPMed gnomAD
rs758607498 CA8435562	332	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs964368447 CA288488565	335	K>E		No	ClinGen TOPMed
CA398663465 rs1300410553	337	K>E		No	ClinGen gnomAD
rs778957702 CA288488568	337	K>R		No	ClinGen gnomAD
CA398663492 rs1303949772	341	I>N		No	ClinGen gnomAD
CA8435563 rs369206920	341	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1380623917 CA398663501	342	S>N		No	ClinGen gnomAD
rs747098801 CA8435564	348	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781021630 CA8435566	349	I>S		No	ClinGen ExAC gnomAD
rs1353950523 CA398663547	349	I>V		No	ClinGen gnomAD
rs201454078 CA8435567	350	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs201454078 CA398663552	350	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1323821518 CA398663553	350	R>H		No	ClinGen TOPMed
rs146759564 CA8435569	351	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	351	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762759998 CA8435570	351	R>Q		No	ClinGen ExAC gnomAD
CA398663605 rs1451235909	358	M>T		No	ClinGen TOPMed
CA8435571 rs770710589	358	M>V		No	ClinGen ExAC gnomAD
CA8435572 rs774092242	360	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA398663617 rs1362387147	360	Y>H		No	ClinGen TOPMed
rs759140755 CA8435573	361	L>P		No	ClinGen ExAC gnomAD

No associated diseases with O60256

2 regional properties for O60256

Type	Name	Position	InterPro Accession
domain	Phosphoribosyltransferase domain	165 - 323	IPR000836
domain	Ribose-phosphate pyrophosphokinase, N-terminal domain	28 - 138	IPR029099

Functions

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

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
ribose phosphate diphosphokinase complex	A protein complex having ribose phosphate diphosphokinase activity.

4 GO annotations of molecular function

Name	Definition
enzyme inhibitor activity	Binds to and stops, prevents or reduces the activity of an enzyme.
identical protein binding	Binding to an identical protein or proteins.
magnesium ion binding	Binding to a magnesium (Mg) ion.
ribose phosphate diphosphokinase activity	Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H(+).

4 GO annotations of biological process

Name	Definition
5-phosphoribose 1-diphosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of 5-phosphoribose 1-diphosphate, also known as 5-phosphoribosyl-1-pyrophosphate.
bone development	The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components.
nucleobase-containing compound metabolic process	Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids.
purine nucleotide biosynthetic process	The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8R574	Prpsap2	Phosphoribosyl pyrophosphate synthase-associated protein 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MFCVTPPELE	TKMNITKGGL	VLFSANSNSS	CMELSKKIAE	RLGVEMGKVQ	VYQEPNRETR
70	80	90	100	110	120
VQIQESVRGK	DVFIIQTVSK	DVNTTIMELL	IMVYACKTSC	AKSIIGVIPY	FPYSKQCKMR
130	140	150	160	170	180
KRGSIVSKLL	ASMMCKAGLT	HLITMDLHQK	EIQGFFNIPV	DNLRASPFLL	QYIQEEIPDY
190	200	210	220	230	240
RNAVIVAKSP	ASAKRAQSFA	ERLRLGIAVI	HGEAQDAESD	LVDGRHSPPM	VRSVAAIHPS
250	260	270	280	290	300
LEIPMLIPKE	KPPITVVGDV	GGRIAIIVDD	IIDDVDSFLA	AAETLKERGA	YKIFVMATHG
310	320	330	340	350	360
LLSSDAPRRI	EESAIDEVVV	TNTIPHEVQK	LQCPKIKTVD	ISMILSEAIR	RIHNGESMSY

LFRNIGLDD