AiPD: Autoinhibited Protein Database

P13674

Gene name	P4HA1 (P4HA)
Protein name	Prolyl 4-hydroxylase subunit alpha-1
Names	4-PH alpha-1, Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5033
EC number	1.14.11.2: With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

229-310 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

229-310 (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

8 structures for P13674

Entry ID	Method	Resolution	Chain	Position	Source
1TJC	X-ray	230 A	A/B	161-261	PDB
2V5F	X-ray	203 A	A	161-263	PDB
2YQ8	X-ray	299 A	A/B	18-255	PDB
4BT8	X-ray	220 A	A/B	18-255	PDB
4BT9	X-ray	190 A	A/B	18-255	PDB
4BTA	X-ray	295 A	A/B	18-261	PDB
4BTB	X-ray	190 A	A	18-255	PDB
AF-P13674-F1	Predicted				AlphaFoldDB

308 variants for P13674

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs200566489 CA5551844	2	I>F		No	ClinGen ExAC TOPMed gnomAD
rs760828992 CA5551843	2	I>N		No	ClinGen ExAC gnomAD
CA209576298 rs202098231	4	Y>C		No	ClinGen TOPMed gnomAD
CA377178528 rs1454284978	4	Y>H		No	ClinGen TOPMed gnomAD
CA377178526 rs202098231	4	Y>S		No	ClinGen TOPMed gnomAD
CA5551842 rs368140626	5	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA377178516 rs1231867869	6	L>I		No	ClinGen gnomAD
CA5551841 rs771031558	6	L>S		No	ClinGen ExAC gnomAD
TCGA novel	7	I>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377178501 rs1264543786	8	I>L		No	ClinGen TOPMed gnomAD
CA377178499 rs1210199602	8	I>T		No	ClinGen gnomAD
CA5551840 rs749090304	13	P>A		No	ClinGen ExAC gnomAD
CA5551839 rs369978623	13	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA209576287 rs1040220069	15	S>A		No	ClinGen gnomAD
CA377178456 rs1355396478	15	S>F		No	ClinGen TOPMed
CA5551838 rs769640324	17	A>T		No	ClinGen ExAC gnomAD
CA5551836 rs780926147	25	I>V		No	ClinGen ExAC TOPMed gnomAD
CA209575783 rs149085423	33	H>R		No	ClinGen ESP TOPMed gnomAD
CA5551817 rs769433970	34	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5551815 rs776128762	40	T>A		No	ClinGen ExAC gnomAD
rs1415224402 CA377178275	40	T>I		No	ClinGen TOPMed gnomAD
CA377178238 rs1411145016	46	I>V		No	ClinGen gnomAD
rs200650208 CA5551812	54	E>G		No	ClinGen ExAC gnomAD
CA5551811 rs757917464	57	K>R		No	ClinGen ExAC gnomAD
CA5551786 rs749602730	59	W>*		No	ClinGen ExAC gnomAD
CA5551785 rs558383943	60	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA377177697 rs1378360515	61	E>G		No	ClinGen TOPMed
rs191882218 CA209574869	63	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs199663298 CA5551783	65	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs145465939 CA5551784	65	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1184046783 CA377177621	66	L>V		No	ClinGen TOPMed gnomAD
rs1214645930 CA377177609	67	T>S		No	ClinGen TOPMed
rs1589619763 CA377177581	69	T>R		No	ClinGen Ensembl
CA5551782 rs781585158	70	A>V		No	ClinGen ExAC TOPMed gnomAD
rs374803195 CA5551780	71	T>A		No	ClinGen ESP ExAC gnomAD
rs201456239 CA209574839	73	D>Y		No	ClinGen Ensembl
rs765085101 COSM1735359 CA209574835 COSM1735357	76	G>E	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5551779 rs765085101	76	G>V		No	ClinGen ExAC TOPMed gnomAD
rs566696563 CA5551778	78	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5551775 rs760496152	85	F>L		No	ClinGen ExAC TOPMed gnomAD
CA377177327 rs1165791516	86	K>Q		No	ClinGen TOPMed
CA377177323 rs1202681583	86	K>R		No	ClinGen gnomAD
CA5551774 rs775076866	90	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM685395 CA377177242 COSM685394 rs1459923410	90	R>H	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs967417973 CA377177233	91	L>V		No	ClinGen gnomAD
rs200341359 CA209574788	93	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	94	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs202013545 CA209574784	96	S>N		No	ClinGen TOPMed gnomAD
rs1213533249 CA377177078	98	L>W		No	ClinGen gnomAD
rs1296748056 CA377177055	99	E>D		No	ClinGen TOPMed
TCGA novel	102	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5551772 rs759039103	105	D>E		No	ClinGen ExAC gnomAD
CA5551773 rs146761821	105	D>N		No	ClinGen ESP ExAC gnomAD
CA209574771 rs1020281626	106	M>I		No	ClinGen gnomAD
rs200863435 CA209574765	108	D>N		No	ClinGen gnomAD
rs143139888 CA377176391	111	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs143139888 CA209572645	111	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143139888 CA5551755	111	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs764044557 CA5551754	113	N>H		No	ClinGen ExAC gnomAD
CA377176362 rs1256411039	116	I>L		No	ClinGen gnomAD
rs139480079 CA209572612	118	R>K		No	ClinGen ESP
rs896793786 CA209572608	119	Q>E		No	ClinGen Ensembl
CA5551751 rs767140761	121	F>L		No	ClinGen ExAC gnomAD
CA5551750 rs372160321	122	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA377176315 rs1201023065	122	P>L		No	ClinGen gnomAD
rs199751353 CA5551749	123	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5551747 rs554093737	124	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150954845 CA5551748	124	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	125	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867851502 CA209572575	127	Q>*		No	ClinGen Ensembl
CA377176266 rs1589617090	130	A>T		No	ClinGen Ensembl
rs1223029199 CA377176260	131	A>T		No	ClinGen TOPMed
rs1289519001 CA377176236	133	A>T		No	ClinGen TOPMed
CA5551745 rs770465540	136	R>C		No	ClinGen ExAC gnomAD
rs938582668 CA209572551	137	L>V		No	ClinGen Ensembl
TCGA novel	138	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1371209570 CA377176154	139	D>V		No	ClinGen gnomAD
CA5551743 rs34567673	140	T>A		No	ClinGen ExAC gnomAD
rs769156691 CA5551742	140	T>S		No	ClinGen ExAC gnomAD
CA209572550 rs34567673	140	T>S		No	ClinGen ExAC gnomAD
rs1226884968 CA377176138	141	Y>N		No	ClinGen TOPMed
CA209572541 rs927171072	142	N>S		No	ClinGen TOPMed gnomAD
CA209572537 rs201444205	144	D>Y		No	ClinGen Ensembl
CA5551741 rs747191509	148	I>V		No	ClinGen ExAC gnomAD
CA209572525 rs200651531	149	S>*		No	ClinGen Ensembl
rs376299656 CA377176009	150	K>N		No	ClinGen ESP gnomAD
CA209572519 rs747758805	150	K>Q		No	ClinGen Ensembl
rs199809169 CA5551740	152	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs775762415 CA5551722	156	V>A		No	ClinGen ExAC gnomAD
CA5551721 rs772226209	158	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs745945879 CA5551720	159	K>Q		No	ClinGen ExAC gnomAD
rs1564629876 CA377174500	159	K>T		No	ClinGen Ensembl
CA377174495 rs1204915607	160	S>P		No	ClinGen gnomAD
TCGA novel	160	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377174487 rs1487547589	161	F>I		No	ClinGen TOPMed gnomAD
rs748037693 CA5551717	163	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5551716 rs377345472	163	T>M		No	ClinGen ExAC TOPMed gnomAD
CA209561708 rs867364485	164	A>T		No	ClinGen TOPMed
rs766052041 CA5551713	166	D>G		No	ClinGen ExAC TOPMed gnomAD
rs533814117 CA209561674	171	G>R		No	ClinGen 1000Genomes
CA377174374 rs1298385946	172	K>E		No	ClinGen gnomAD
rs1373285977 CA377174341	175	Y>H		No	ClinGen gnomAD
rs918191045 CA209561668	176	T>I		No	ClinGen TOPMed
CA5551710 rs764773456	179	D>G		No	ClinGen ExAC
rs754351127 CA5551709	180	Y>D		No	ClinGen ExAC gnomAD
rs754351127 CA5551708	180	Y>H		No	ClinGen ExAC gnomAD
rs764561642 CA5551707	183	T>M		No	ClinGen ExAC TOPMed gnomAD
rs142587629 CA209561624	185	L>P		No	ClinGen ESP
CA377174166 rs775773147	187	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5551705 rs775773147	187	M>V		No	ClinGen ExAC TOPMed gnomAD
CA5551704 rs772496105	188	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1485455049 CA377174116	190	A>T		No	ClinGen gnomAD
rs1391948880 CA377174106	190	A>V		No	ClinGen gnomAD
TCGA novel	194	L>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA209561578 rs1024039064	198	E>K		No	ClinGen Ensembl
rs566474557 CA209561573	202	I>T		No	ClinGen 1000Genomes gnomAD
CA377173865 rs1451665282	204	K>E		No	ClinGen Ensembl
CA209561564 rs979158950	205	V>A		No	ClinGen TOPMed
TCGA novel	205	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5551699 rs781075726	206	S>A		No	ClinGen ExAC gnomAD
CA377173807 rs1278579191	206	S>F		No	ClinGen gnomAD
CA209561553 rs200447386	208	L>V		No	ClinGen TOPMed gnomAD
rs200285096 CA5551697	212	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs200760249 CA209561527	214	A>E		No	ClinGen ExAC TOPMed gnomAD
CA377173624 rs1395153810	214	A>T		No	ClinGen gnomAD
rs200760249 CA5551696	214	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	215	V>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1230788057 CA377173601	216	Y>H		No	ClinGen TOPMed
CA5551694 rs778735708	222	D>H		No	ClinGen ExAC TOPMed gnomAD
rs778735708 CA5551693	222	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1234383326 CA377173437	223	K>R		No	ClinGen TOPMed
rs201536150 CA209561517	224	A>T		No	ClinGen Ensembl
rs753442855 CA5551691	225	L>V		No	ClinGen ExAC gnomAD
rs1000115429 CA209561512	226	L>F		No	ClinGen Ensembl
CA5551689 rs761026912	228	T>S		No	ClinGen ExAC gnomAD
CA377173202 rs1365514449	234	L>R		No	ClinGen gnomAD
CA5551688 rs753250145	234	L>V		No	ClinGen ExAC TOPMed gnomAD
rs767730928 CA5551687	235	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5551672 rs183675937	236	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	238	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5551670 rs753092507	239	Q>H		No	ClinGen ExAC gnomAD
CA5551671 rs200527189	239	Q>R		No	ClinGen ExAC gnomAD
CA5551669 rs768117526	240	R>K		No	ClinGen ExAC gnomAD
rs991950284 CA209579791	242	N>D		No	ClinGen Ensembl
CA5551668 rs199830733	242	N>K		No	ClinGen ExAC gnomAD
CA377182595 rs1384505336	244	N>D		No	ClinGen gnomAD
TCGA novel	247	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1157093343 CA377182569	247	Y>C		No	ClinGen gnomAD
rs763105075 CA5551665	253	A>G		No	ClinGen ExAC gnomAD
CA377182496 rs1192879882	257	D>H		No	ClinGen gnomAD
TCGA novel	257	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5551664 rs773489215	259	N>S		No	ClinGen ExAC TOPMed gnomAD
CA377182481 rs1169858857	259	N>Y		No	ClinGen TOPMed
rs200458532 CA209579773	260	K>R		No	ClinGen gnomAD
rs765191429 CA5551663	264	D>N		No	ClinGen ExAC gnomAD
rs1446091845 CA377182417	265	D>A		No	ClinGen TOPMed
CA209579764 rs759047890	265	D>E		No	ClinGen Ensembl
rs1353737581 CA377182389	267	S>C		No	ClinGen gnomAD
rs376235892 CA209579760	268	D>G		No	ClinGen Ensembl
rs200159365 CA5551662	268	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1451025486 CA377182370	269	Q>E		No	ClinGen TOPMed
rs1312644940 CA377182357	269	Q>H		No	ClinGen TOPMed
rs1564629092 CA377182317	272	T>I		No	ClinGen Ensembl
rs562929059 CA5551660	273	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs562929059 CA5551661	273	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1217008948 CA377182314	273	P>S		No	ClinGen gnomAD
rs199578864 CA5551659	275	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1437558847 CA377182292	275	K>I		No	ClinGen gnomAD
CA5551658 rs774348594	276	K>Q		No	ClinGen ExAC gnomAD
rs1252683363 CA377182270	277	G>E		No	ClinGen TOPMed
rs748849628 CA5551656	278	V>L		No	ClinGen ExAC gnomAD
rs1361469099	278	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5551655 rs777499769	279	A>P		No	ClinGen ExAC gnomAD
CA5551654 rs755553766	280	V>L		No	ClinGen ExAC gnomAD
CA5551652 rs781544054	282	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA5551653 rs781544054	282	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA377182201 rs1474935636	283	L>V		No	ClinGen gnomAD
CA5551649 rs766666409	284	P>L		No	ClinGen ExAC gnomAD
TCGA novel	287	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765547791 CA5551646	290	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1313453106 CA377182097	291	M>R		No	ClinGen gnomAD
CA377182099 rs1313453106	291	M>T		No	ClinGen gnomAD
CA5551645 rs761772641	291	M>V		No	ClinGen ExAC gnomAD
rs1428871641 CA377182065	294	R>C		No	ClinGen TOPMed
rs201843565 CA209579726	294	R>H		No	ClinGen TOPMed
TCGA novel	296	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201130068 CA5551644	297	G>S		No	ClinGen ExAC gnomAD
CA377182027 rs1220348167	297	G>V		No	ClinGen gnomAD
rs1317628924 CA377182005	299	K>R		No	ClinGen gnomAD
rs751516100 CA5551622	301	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1465883684 CA377181321	302	P>S		No	ClinGen gnomAD
rs147498716 CA5551620	303	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766456432 CA5551621	303	R>W		No	ClinGen ExAC gnomAD
CA377181272 rs1589601265	307	K>N		No	ClinGen Ensembl
TCGA novel	307	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA209578479 rs984301198	310	C>R		No	ClinGen TOPMed
COSM1702620 COSM1702622 rs769487606 CA5551618	311	R>C	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs761463646 COSM1348968 CA5551617 COSM1348967	311	R>H	Variant assessed as Somatic; 9.24e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs144541240 CA5551615	313	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5551614 rs746572048	314	D>G		No	ClinGen ExAC gnomAD
CA209578462 rs199932585	317	R>G		No	ClinGen Ensembl
rs772706760 CA5551612	321	F>L		No	ClinGen ExAC gnomAD
rs200859311 CA5551611	322	I>L		No	ClinGen ExAC TOPMed gnomAD
CA377181079 rs1374770581	324	A>D		No	ClinGen gnomAD
rs1447449017 CA377181026	329	E>A		No	ClinGen gnomAD
CA5551609 rs757591074	331	E>G		No	ClinGen ExAC gnomAD
rs754062605 CA377180975	334	K>E		No	ClinGen ExAC TOPMed gnomAD
rs754062605 CA5551607	334	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA377180973 rs1479346391	334	K>T		No	ClinGen gnomAD
COSM920237 CA5551606 COSM920238 rs553614855	336	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs199687360 CA5551605	336	R>H		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs766405588 CA377180950	338	I>F		No	ClinGen ExAC TOPMed gnomAD
rs762888385 CA5551602	338	I>T		No	ClinGen ExAC gnomAD
rs766405588 CA5551603	338	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5551601 rs183380808	339	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA209578432 rs183380808	339	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5551599 rs761537737	342	D>G		No	ClinGen ExAC gnomAD
CA5551600 rs765042884	342	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5551598 rs776245083	343	I>M		No	ClinGen ExAC gnomAD
CA209578406 rs201429268	343	I>V		No	ClinGen gnomAD
rs112256907 CA5551597	346	D>E		No	ClinGen ExAC gnomAD
rs751418329 CA209578397	347	A>T		No	ClinGen Ensembl
CA209578393 rs200486127	347	A>V		No	ClinGen Ensembl
rs199872874 CA209578391	351	I>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	352	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775043819 CA5551595	352	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771498666 CA5551594	353	K>E		No	ClinGen ExAC gnomAD
TCGA novel	355	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377180841 rs201204338	355	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1299176298 CA377180823	358	P>A		No	ClinGen TOPMed gnomAD
rs1388241646 CA377180813	359	R>T		No	ClinGen gnomAD
RCV000754637 rs1564627266	362	R>missing		No	ClinVar dbSNP
rs201944122	362	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs774888932	369	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs201139791	369	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs893534584 CA209571804	387	S>A		No	ClinGen TOPMed
CA5551504 rs764330652	387	S>F		No	ClinGen ExAC TOPMed gnomAD
CA377178099 rs1477378777	388	G>V		No	ClinGen gnomAD
rs201077792 CA5551502	389	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA5551503 rs761126612	389	Y>H		No	ClinGen ExAC gnomAD
rs772342561 CA5551501	391	N>S		No	ClinGen ExAC gnomAD
rs762403435 CA209571779	392	P>S		No	ClinGen Ensembl
rs992497971 CA209571774	393	V>L		No	ClinGen gnomAD
CA5551498 rs34312165	395	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5551497 rs199926060 COSM685401 COSM685400	396	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1344029503 CA377177939	399	M>I		No	ClinGen TOPMed
CA377177941 rs1317689960	399	M>K		No	ClinGen gnomAD
rs1034273754 COSM920233 CA209571757 COSM920234	400	R>I	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
TCGA novel	401	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377177899 rs1436592300	402	Q>*		No	ClinGen TOPMed
rs1247297441 CA377177874	403	D>V		No	ClinGen gnomAD
TCGA novel	403	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201321672 CA209571741	404	L>V		No	ClinGen TOPMed
rs1216573778 CA377177734	412	A>G		No	ClinGen gnomAD
CA377177731 rs1216573778	412	A>V		No	ClinGen gnomAD
CA377175675 rs1425962607	418	A>G		No	ClinGen gnomAD
CA377177587 rs1362982842	418	A>T		No	ClinGen gnomAD
TCGA novel	422	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768706270 CA5551474	422	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1390076187 CA377175603	429	H>D		No	ClinGen TOPMed
rs199792545 CA5551472	434	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1249121143 CA377175525	434	R>W		No	ClinGen TOPMed gnomAD
CA377174950 rs1554837439	435	K>E		No	ClinGen Ensembl
TCGA novel	435	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377174940 rs1351604688 COSM3382993 COSM3382991	436	D>G	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA209563760 rs1018150085	437	E>D		No	ClinGen gnomAD
rs1239708898 CA377174927	438	P>S		No	ClinGen gnomAD
rs201211707 CA5551453	439	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762937946 CA377174922	439	D>H		No	ClinGen ExAC TOPMed gnomAD
rs762937946 CA5551454	439	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1345739260 CA377174912	440	A>V		No	ClinGen gnomAD
rs1218151897 CA377174910	441	F>L		No	ClinGen gnomAD
CA5551452 rs765246736	442	K>R		No	ClinGen ExAC gnomAD
rs1564618194 CA377174871	447	G>R		No	ClinGen Ensembl
TCGA novel	449	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	452	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1425009905 CA377174831	453	W>R		No	ClinGen TOPMed
TCGA novel	455	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel rs1471137874 CA377174251	457	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed gnomAD
CA377174208 rs1212906330	458	S>T		No	ClinGen TOPMed
rs1258431298 CA377174195	459	D>N		No	ClinGen TOPMed
CA377173994 rs1249948565	468	F>S		No	ClinGen TOPMed
rs1297346574 CA377173949	470	E>K		No	ClinGen gnomAD
CA5551429 rs565202062	473	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1375068860 CA377173718	478	K>R		No	ClinGen gnomAD
rs182054109 CA5551402	481	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1246161843 CA377173174	484	F>Y		No	ClinGen gnomAD
TCGA novel	487	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5551401 rs764936176	491	S>G		No	ClinGen ExAC gnomAD
rs1013272414 CA209561574	493	E>G		No	ClinGen Ensembl
CA5551400 rs761299532	494	G>A		No	ClinGen ExAC gnomAD
rs761299532 CA209561566	494	G>E		No	ClinGen ExAC gnomAD
CA209561555 rs201618967	495	D>G		No	ClinGen 1000Genomes
CA5551399 rs776062341	496	Y>D		No	ClinGen ExAC gnomAD
rs199836353 CA5551396	499	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1168705 COSM1168703 CA5551398 rs200529312	499	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs746261950 CA5551394	503	C>Y		No	ClinGen ExAC gnomAD
rs200745198 CA209561528	507	V>A		No	ClinGen Ensembl
rs749470305 CA5551371	513	S>F		No	ClinGen ExAC gnomAD
rs1408715683 CA377172166	516	W>R		No	ClinGen gnomAD
rs1290632709 CA377172077	520	R>C		No	ClinGen TOPMed
rs1171770367 CA377172076	520	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1430892755 CA377171884	528	C>S		No	ClinGen gnomAD
CA5551368 rs201647721	529	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5551365 rs750366063	531	S>P		No	ClinGen ExAC gnomAD
CA209560309 rs1052121726	532	E>Q		No	ClinGen Ensembl
rs933702000 CA209560298	533	L>W		No	ClinGen TOPMed gnomAD
TCGA novel	535	E>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with P13674

5 regional properties for P13674

Type	Name	Position	InterPro Accession
domain	Oxoglutarate/iron-dependent dioxygenase	411 - 519	IPR005123
domain	Prolyl 4-hydroxylase, alpha subunit	335 - 518	IPR006620
domain	Prolyl 4-hydroxylase alpha-subunit, N-terminal	24 - 155	IPR013547
repeat	Tetratricopeptide repeat	205 - 238	IPR019734
domain	Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain	415 - 518	IPR044862

Functions

		Description
EC Number	1.14.11.2	With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
Subcellular Localization	Endoplasmic reticulum lumen
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum lumen	The volume enclosed by the membranes of the endoplasmic reticulum.
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.
procollagen-proline 4-dioxygenase complex	A protein complex that catalyzes the formation of procollagen trans-4-hydroxy-L-proline and succinate from procollagen L-proline and 2-oxoglutarate, requiring Fe2+ and ascorbate. Contains two alpha subunits that contribute to most parts of the catalytic sites, and two beta subunits that are identical to protein-disulfide isomerase.

4 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
iron ion binding	Binding to an iron (Fe) ion.
L-ascorbic acid binding	Binding to L-ascorbic acid, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate; L-ascorbic acid is vitamin C and has co-factor and anti-oxidant activities in many species.
procollagen-proline 4-dioxygenase activity	Catalysis of the reaction: procollagen L-proline + 2-oxoglutarate + O2 = procollagen trans-4-hydroxy-L-proline + succinate + CO2.

2 GO annotations of biological process

Name	Definition
collagen fibril organization	Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix.
peptidyl-proline hydroxylation to 4-hydroxy-L-proline	The modification of peptidyl-proline to form 4-hydroxy-L-proline; catalyzed by procollagen-proline,2-oxoglutarate-4-dioxygenase.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q1RMU3	P4HA1	Prolyl 4-hydroxylase subunit alpha-1	Bos taurus (Bovine)	PR
P16924	P4HA1	Prolyl 4-hydroxylase subunit alpha-1	Gallus gallus (Chicken)	PR
O15460	P4HA2	Prolyl 4-hydroxylase subunit alpha-2	Homo sapiens (Human)	PR
Q60715	P4ha1	Prolyl 4-hydroxylase subunit alpha-1	Mus musculus (Mouse)	PR
P54001	P4ha1	Prolyl 4-hydroxylase subunit alpha-1	Rattus norvegicus (Rat)	PR
Q20065	phy-2	Prolyl 4-hydroxylase subunit alpha-2	Caenorhabditis elegans	PR
Q9ZW86	P4H1	Prolyl 4-hydroxylase 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SZT0	P4H11	Probable prolyl 4-hydroxylase 11	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MIWYILIIGI	LLPQSLAHPG	FFTSIGQMTD	LIHTEKDLVT	SLKDYIKAEE	DKLEQIKKWA
70	80	90	100	110	120
EKLDRLTSTA	TKDPEGFVGH	PVNAFKLMKR	LNTEWSELEN	LVLKDMSDGF	ISNLTIQRQY
130	140	150	160	170	180
FPNDEDQVGA	AKALLRLQDT	YNLDTDTISK	GNLPGVKHKS	FLTAEDCFEL	GKVAYTEADY
190	200	210	220	230	240
YHTELWMEQA	LRQLDEGEIS	TIDKVSVLDY	LSYAVYQQGD	LDKALLLTKK	LLELDPEHQR
250	260	270	280	290	300
ANGNLKYFEY	IMAKEKDVNK	SASDDQSDQK	TTPKKKGVAV	DYLPERQKYE	MLCRGEGIKM
310	320	330	340	350	360
TPRRQKKLFC	RYHDGNRNPK	FILAPAKQED	EWDKPRIIRF	HDIISDAEIE	IVKDLAKPRL
370	380	390	400	410	420
RRATISNPIT	GDLETVHYRI	SKSAWLSGYE	NPVVSRINMR	IQDLTGLDVS	TAEELQVANY
430	440	450	460	470	480
GVGGQYEPHF	DFARKDEPDA	FKELGTGNRI	ATWLFYMSDV	SAGGATVFPE	VGASVWPKKG
490	500	510	520	530
TAVFWYNLFA	SGEGDYSTRH	AACPVLVGNK	WVSNKWLHER	GQEFRRPCTL	SELE