AiPD: Autoinhibited Protein Database

O15460

Gene name	P4HA2 (UNQ290/PRO330)
Protein name	Prolyl 4-hydroxylase subunit alpha-2
Names	4-PH alpha-2, Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8974
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)

225-399 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

225-399 (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

7 structures for O15460

Entry ID	Method	Resolution	Chain	Position	Source
6EVL	X-ray	187 A	A	163-257	PDB
6EVM	X-ray	200 A	A	163-257	PDB
6EVN	X-ray	148 A	A	163-257	PDB
6EVO	X-ray	155 A	A	163-257	PDB
6EVP	X-ray	168 A	A	163-257	PDB
7ZSC	X-ray	385 A	A/B	282-535	PDB
AF-O15460-F1	Predicted				AlphaFoldDB

454 variants for O15460

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV002489426 rs61739875 RCV000974564 CA3402784	76	A>S	Myopia 25, autosomal dominant [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_074026 rs764211125 CA3402730 RCV000412662	140	Q>R	Myopia 25, autosomal dominant MYP25 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_074027 rs771208496 CA3402724	150	I>V	Variant assessed as Somatic; 0.0 impact. MYP25; unknown pathological significance [NCI-TCGA, UniProt]	Yes	ClinGen UniProt ExAC NCI-TCGA dbSNP gnomAD
CA3402612 RCV000412575 rs758872875 VAR_074028	291	E>K	Myopia 25, autosomal dominant MYP25; decreases protein abundance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV002536423 RCV000729166 rs141800760 CA3402585	314	H>Y	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000412535 rs1135402746	451	V>missing	Myopia 25, autosomal dominant [ClinVar]	Yes	ClinVar dbSNP
rs373491966 CA127202318	5	V>A		No	ClinGen 1000Genomes TOPMed gnomAD
rs1285781929 CA360802102	5	V>L		No	ClinGen gnomAD
rs371157959 CA127202307	9	L>M		No	ClinGen TOPMed
TCGA novel	10	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA127202284 rs919745600	11	A>S		No	ClinGen Ensembl
CA3402866 rs750893103	12	W>*		No	ClinGen ExAC gnomAD
CA360802042 rs1362842042	14	G>D		No	ClinGen gnomAD
rs541535045 CA3402865	16	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1430203347 CA360802021	18	C>R		No	ClinGen TOPMed
rs1270864587 CA360802018	18	C>Y		No	ClinGen TOPMed
CA360801986 rs1345824141	22	E>D		No	ClinGen gnomAD
TCGA novel	24	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1412889284 CA360801954	27	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3402863 rs774673999	27	I>V		No	ClinGen ExAC TOPMed gnomAD
CA127201631 rs942551364	29	H>Y		No	ClinGen Ensembl
CA3402834 rs199506325	30	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	31	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144968849 CA3402833	32	D>E		No	ClinGen ESP ExAC gnomAD
CA127201599 rs367912715	34	I>F		No	ClinGen ESP TOPMed gnomAD
TCGA novel	35	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA127201589 rs201486046	37	E>D		No	ClinGen gnomAD
TCGA novel	37	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374983174 CA3402830	40	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs781242031 CA360801851	41	V>L		No	ClinGen ExAC gnomAD
rs781242031 CA3402828	41	V>M		No	ClinGen ExAC gnomAD
CA3402826 rs752001693	43	S>C		No	ClinGen ExAC TOPMed gnomAD
rs200223337 CA127201545	46	E>D		No	ClinGen 1000Genomes ExAC TOPMed
CA3402822 rs201551157	48	I>L		No	ClinGen ExAC gnomAD
CA127201539 rs370773421	48	I>N		No	ClinGen ESP TOPMed gnomAD
CA127201544 rs201551157	48	I>V		No	ClinGen ExAC gnomAD
rs192928215 CA3402820	51	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs201130255 CA3402818	57	K>E		No	ClinGen ExAC gnomAD
TCGA novel	57	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3402817 rs774391174	59	K>N		No	ClinGen ExAC gnomAD
CA3402787 rs777712107	61	W>S		No	ClinGen ExAC gnomAD
CA3402786 rs772200346	62	A>T		No	ClinGen ExAC gnomAD
rs748547016 CA3402785	63	N>S		No	ClinGen ExAC gnomAD
CA127201151 rs559683174	65	M>V		No	ClinGen TOPMed
CA360801659 rs1434986265	67	A>V		No	ClinGen gnomAD
rs1302502954 CA360801652	68	L>F		No	ClinGen gnomAD
rs1396612209 CA360801641	70	S>T		No	ClinGen gnomAD
CA127201136 rs200158840	72	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1165920359 CA360801624	73	A>T		No	ClinGen gnomAD
CA360801589 rs1195316773	78	G>C		No	ClinGen gnomAD
rs1430322908 CA360801572	81	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3402782 rs754224046	83	P>L		No	ClinGen ExAC TOPMed gnomAD
CA127201107 rs754224046	83	P>R		No	ClinGen ExAC TOPMed gnomAD
rs780614353 CA3402781	84	V>M		No	ClinGen ExAC gnomAD
CA360801545 rs1270775294	85	N>S		No	ClinGen TOPMed
CA127201071 rs375615288	86	A>T		No	ClinGen TOPMed gnomAD
CA3402780 rs756955421	86	A>V		No	ClinGen ExAC gnomAD
CA3402779 rs377741374	87	Y>N		No	ClinGen ESP ExAC gnomAD
rs763443606 CA3402778	88	K>N		No	ClinGen ExAC gnomAD
rs1271223230 CA360801525	88	K>R		No	ClinGen gnomAD
CA127201056 rs200971629	89	L>Q		No	ClinGen Ensembl
CA360801504 rs1293634082	92	R>Q		No	ClinGen gnomAD
CA3402776 rs370556720	92	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs765186832 CA3402775	93	L>V		No	ClinGen ExAC gnomAD
CA127200990 rs896272588	94	N>H		No	ClinGen TOPMed
CA3402773 rs776401698	94	N>S		No	ClinGen ExAC gnomAD
TCGA novel	96	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360801476 rs1409143537	97	W>R		No	ClinGen gnomAD
CA360801466 rs1200808002	98	P>S		No	ClinGen TOPMed
rs201860203 CA3402772	99	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA127200962 rs1006799846	102	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA360801433 rs1474197378	103	L>P		No	ClinGen gnomAD
CA127200948 rs200103468	106	Q>R		No	ClinGen TOPMed
CA127200937 rs889730814	107	D>Y		No	ClinGen Ensembl
rs201716583 CA3402769	108	S>P		No	ClinGen ExAC TOPMed gnomAD
CA3402768 rs771999255	110	A>V		No	ClinGen ExAC gnomAD
rs369458854 CA3402745	113	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3402746 rs369458854	113	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3402743 rs201062782	114	A>S		No	ClinGen ExAC TOPMed gnomAD
CA3402742 COSM1060647 COSM1594772 rs201062782	114	A>T	endometrium Variant assessed as Somatic; 0.0001852 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA127199152 rs200565501	114	A>V		No	ClinGen gnomAD
CA360801349 rs1402223934	115	N>K		No	ClinGen TOPMed
TCGA novel	120	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA127199142 rs1011764047	120	R>Q		No	ClinGen TOPMed gnomAD
rs147775773 CA3402741	120	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA360801316 rs1561488476	121	Q>*		No	ClinGen Ensembl
CA3402739 rs201416459	122	F>L		No	ClinGen ExAC gnomAD
CA360801302 rs1468921642	123	F>L		No	ClinGen TOPMed
CA3402738 rs754500664	126	D>H		No	ClinGen ExAC gnomAD
CA127199125 rs200297312	127	E>K		No	ClinGen TOPMed
CA127199109 rs1055418874	129	E>D		No	ClinGen TOPMed gnomAD
CA127199117 rs912782838	129	E>K		No	ClinGen Ensembl
rs202141478 CA3402736	130	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1240906199 CA360801254	130	I>V		No	ClinGen TOPMed gnomAD
CA3402735 rs756046457	132	A>T		No	ClinGen ExAC gnomAD
CA360801231 rs1580721318	134	K>E		No	ClinGen Ensembl
CA127199105 rs928859818	134	K>T		No	ClinGen TOPMed
rs1231625826 CA360801208	137	M>I		No	ClinGen TOPMed gnomAD
rs767273167 CA3402733	138	R>T		No	ClinGen ExAC TOPMed gnomAD
CA3402732 rs762090563	139	L>R		No	ClinGen ExAC gnomAD
CA3402731 rs764211125	140	Q>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	143	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360801157 rs1181074399	145	L>Q		No	ClinGen TOPMed
rs776098475 CA3402728	147	P>R		No	ClinGen ExAC gnomAD
rs763144394 CA3402729	147	P>S		No	ClinGen ExAC
rs746407250 CA3402726	148	G>D		No	ClinGen ExAC gnomAD
rs770299526 CA3402727	148	G>S		No	ClinGen ExAC TOPMed gnomAD
CA360801120 rs201041856	152	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1475416460 CA360801089	156	P>L		No	ClinGen gnomAD
CA3402718 rs199928345	156	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1341069174 CA360801074	157	G>E		No	ClinGen TOPMed
CA360801056 rs1231512549	160	Y>H		No	ClinGen gnomAD
rs1231512549 CA360801057	160	Y>N		No	ClinGen gnomAD
rs1354916786 CA360801047	161	Q>*		No	ClinGen gnomAD
TCGA novel	161	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1217061803 CA360801034	163	M>V		No	ClinGen TOPMed
TCGA novel	165	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360801021 rs1255717088 COSM1060646	165	S>R	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3402692 rs201571250	171	G>E		No	ClinGen ExAC TOPMed gnomAD
rs377044728 COSM246329 CA3402690	174	R>C	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3402689 rs761219895	174	R>H		No	ClinGen ExAC TOPMed gnomAD
rs764954173 CA3402688 COSM351115	175	S>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1261627972 CA360800943	176	A>D		No	ClinGen TOPMed
rs775018490 CA3402685	177	Y>C		No	ClinGen ExAC gnomAD
rs1460418752 CA360800926	178	N>H		No	ClinGen gnomAD
CA360800919 rs1417961404	178	N>I		No	ClinGen TOPMed gnomAD
CA360800921 rs1417961404	178	N>S		No	ClinGen TOPMed gnomAD
rs199772699 CA127196985	179	E>D		No	ClinGen Ensembl
CA3402684 rs769298635	180	G>E		No	ClinGen ExAC gnomAD
CA360800883 rs769298635	180	G>V		No	ClinGen ExAC gnomAD
rs745398152 CA3402683	181	D>N		No	ClinGen ExAC gnomAD
CA3402682 rs776240790	182	Y>C		No	ClinGen ExAC gnomAD
CA360800815 rs1305211824	185	T>A		No	ClinGen TOPMed gnomAD
rs140196287 CA3402681	185	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1173176951 CA360800796	186	V>L		No	ClinGen TOPMed
CA360800775 rs199749218	187	L>F		No	ClinGen ExAC TOPMed gnomAD
rs201610318 CA127196915	188	W>*		No	ClinGen Ensembl
CA127196920 rs946346233	188	W>R		No	ClinGen Ensembl
CA360800698 rs1314707839	192	V>A		No	ClinGen TOPMed
CA360800697 rs1314707839	192	V>G		No	ClinGen TOPMed
CA3402675 rs755268489	192	V>M		No	ClinGen ExAC gnomAD
rs1306638485 CA360800672	194	K>N		No	ClinGen gnomAD
CA360800654 rs1241313755	196	L>I		No	ClinGen gnomAD
rs1275305193 CA360800619	198	A>V		No	ClinGen Ensembl
rs201291968 CA3402673	199	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3402670 rs201127551	200	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201127551 CA3402671	200	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1580706776 CA360800599	201	E>G		No	ClinGen Ensembl
rs201626956 CA127196825	204	T>K		No	ClinGen TOPMed gnomAD
rs762187217 CA3402669	207	S>A		No	ClinGen ExAC TOPMed gnomAD
rs958417950 CA127196819	207	S>L		No	ClinGen Ensembl
TCGA novel	208	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1321829895 CA360800556	208	Q>R		No	ClinGen Ensembl
CA360800543 rs1159395285	210	L>P		No	ClinGen gnomAD
CA360800534 rs1580706611	211	D>E		No	ClinGen Ensembl
TCGA novel	211	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1398154354 CA360800529	212	Y>C		No	ClinGen gnomAD
CA127196815 rs566626458	213	L>F		No	ClinGen Ensembl
rs981033357 CA127196809	216	A>T		No	ClinGen Ensembl
CA360800492 rs1561483309	217	V>L		No	ClinGen Ensembl
CA3402665 RCV000907409 rs148740080	218	F>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3402664 rs770629032	219	Q>L		No	ClinGen ExAC gnomAD
TCGA novel	220	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs540078172 CA127196798	221	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
CA127196795 rs201056908	222	D>E		No	ClinGen Ensembl
rs746888081 CA3402663	223	L>M		No	ClinGen ExAC gnomAD
CA360800409 rs746888081	223	L>V		No	ClinGen ExAC gnomAD
CA360800387 CA360800385 rs1402495205	224	H>Q		No	ClinGen TOPMed gnomAD
rs144299745 CA3402662	225	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs771957451 CA3402661	225	R>H		No	ClinGen ExAC gnomAD
CA127196790 rs144299745	225	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3402660 rs747868073	226	A>D		No	ClinGen ExAC TOPMed gnomAD
CA127196782 rs994478594	226	A>S		No	ClinGen Ensembl
CA360800365 rs747868073	226	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3402658 rs749593937	228	E>D		No	ClinGen ExAC TOPMed gnomAD
CA3402659 rs577387855	228	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1415935322 CA360800334	229	L>V		No	ClinGen TOPMed gnomAD
rs149593706 CA3402656	231	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs200355999 CA3402655	231	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3402654 rs202121444	232	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201223748 CA3402653 COSM1594774 COSM1060644	232	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA360800279 rs1212027335	233	L>P		No	ClinGen Ensembl
rs1383622427 CA360800271	234	L>F		No	ClinGen gnomAD
rs979150749 CA127196752	234	L>R		No	ClinGen TOPMed gnomAD
CA127196751 rs267600343	235	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1206121397 CA360800063	237	D>E		No	ClinGen TOPMed
rs1290985237 CA360800060	238	P>A		No	ClinGen gnomAD
rs1401347392 CA360800056	238	P>L		No	ClinGen gnomAD
CA360800047 rs1311949974	240	H>N		No	ClinGen gnomAD
CA3402636 rs769824324	241	E>*		No	ClinGen ExAC gnomAD
CA3402637 COSM1260779 rs769824324	241	E>K	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs374026082 CA3402635	242	R>*		No	ClinGen ESP ExAC gnomAD
CA3402634 rs781294158	242	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3402633 rs757687448	243	A>V		No	ClinGen ExAC TOPMed gnomAD
rs138182231 CA3402631	244	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3402632 rs138182231	244	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1194440734 CA360800023	244	G>R		No	ClinGen gnomAD
CA127196294 rs758816951	246	N>D		No	ClinGen ExAC TOPMed gnomAD
rs201482279 CA127196291	246	N>S		No	ClinGen gnomAD
rs201482279 CA360800013	246	N>T		No	ClinGen gnomAD
CA3402630 rs758816951	246	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs1443314138 CA360800007	247	L>P		No	ClinGen TOPMed gnomAD
CA360800006 rs1443314138	247	L>R		No	ClinGen TOPMed gnomAD
COSM3674280 COSM3674279 CA127196288 rs200144298	248	R>L	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
CA360800004 rs200144298	248	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3402629 rs200779370	248	R>W		No	ClinGen ExAC TOPMed gnomAD
CA360799973 rs1339264383	252	Q>L		No	ClinGen gnomAD
rs1219917500 CA360799960	254	L>S		No	ClinGen gnomAD
rs1332047282 CA360799945	256	E>A		No	ClinGen TOPMed gnomAD
CA127196285 rs927706167	257	E>*		No	ClinGen TOPMed
CA360799939 rs927706167	257	E>K		No	ClinGen TOPMed
CA360799931 rs1292223057	258	R>K		No	ClinGen gnomAD
CA3402626 rs749941444	259	E>G		No	ClinGen ExAC TOPMed gnomAD
CA360799918 rs1326581988	260	K>E		No	ClinGen gnomAD
rs200663617 CA127196280	260	K>R		No	ClinGen Ensembl
CA3402623 rs146303839	261	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3402624 rs146303839	261	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs762836971 CA3402621	264	N>S		No	ClinGen ExAC gnomAD
rs775304080 CA3402620	266	T>A		No	ClinGen ExAC TOPMed gnomAD
CA360799877 rs1304180341	266	T>R		No	ClinGen TOPMed
TCGA novel	267	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3402617 rs368931657	272	T>I		No	ClinGen ESP ExAC gnomAD
rs781241900 CA3402616	273	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	274	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1379727411 CA360799828	274	E>G		No	ClinGen gnomAD
CA3402615 rs771045367	276	I>V		No	ClinGen ExAC gnomAD
rs906084464 CA127196240	277	Y>C		No	ClinGen TOPMed gnomAD
rs1228448343 CA360799773	280	P>L		No	ClinGen gnomAD
CA3402614 rs747428780	280	P>S		No	ClinGen ExAC TOPMed gnomAD
CA360799760 rs1232959190	281	V>G		No	ClinGen TOPMed
TCGA novel	281	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA127196236 rs200998393	285	P>H		No	ClinGen gnomAD
rs200998393 CA360799704	285	P>R		No	ClinGen gnomAD
rs1024566454 CA360799677	287	R>K		No	ClinGen gnomAD
rs1014952802 CA360799671	287	R>S		No	ClinGen gnomAD
rs1024566454 CA127196235	287	R>T		No	ClinGen gnomAD
rs779478817 CA3402610	294	C>Y		No	ClinGen ExAC gnomAD
rs375780536 CA3402609	295	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3402608 rs750106952	295	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA127196225 rs778995942	296	G>A		No	ClinGen Ensembl
CA3402607 rs766882616	296	G>W		No	ClinGen ExAC gnomAD
rs965027567 CA127196219	297	E>D		No	ClinGen TOPMed
CA3402606 rs199738778	298	G>D		No	ClinGen ExAC TOPMed gnomAD
CA3402605 rs199738778	298	G>V		No	ClinGen ExAC TOPMed gnomAD
CA127196216 rs201357894	299	V>I		No	ClinGen TOPMed
CA360799498 rs1180999487	300	K>*		No	ClinGen gnomAD
rs745470897 CA3402590	303	P>L		No	ClinGen ExAC TOPMed gnomAD
CA127195581 rs553455279	303	P>S		No	ClinGen 1000Genomes
rs199899764 COSM3826713 CA3402589 COSM3826712	304	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3402588 rs202117062	304	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA127195567 rs956509984	311	C>R		No	ClinGen gnomAD
CA3402587 rs751057163	312	R>S		No	ClinGen ExAC TOPMed
rs763566359 CA3402586	313	Y>C		No	ClinGen ExAC
CA360799043 rs1399521655	315	H>D		No	ClinGen gnomAD
rs1000503656 CA127195547	315	H>R		No	ClinGen Ensembl
CA3402583 rs764952504	316	G>C		No	ClinGen ExAC gnomAD
CA360799011 rs1580693125	317	N>K		No	ClinGen Ensembl
rs1300349607 CA360799010	318	R>G		No	ClinGen gnomAD
CA360799003 rs1433187455	318	R>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs201961236 CA127195538	320	P>R		No	ClinGen TOPMed
CA127195542 rs200086462	320	P>S		No	ClinGen TOPMed gnomAD
rs759360003 CA3402582	321	Q>*		No	ClinGen ExAC gnomAD
CA3402581 rs776333817	322	L>P		No	ClinGen ExAC TOPMed gnomAD
rs551859784 CA127195518	323	L>F		No	ClinGen gnomAD
CA3402580 rs766606081	324	I>L		No	ClinGen ExAC gnomAD
rs1264808633 CA360798949	324	I>T		No	ClinGen gnomAD
CA3402578 rs773337769	326	P>A		No	ClinGen ExAC gnomAD
rs200111315 CA3402577	326	P>L		No	ClinGen ExAC TOPMed gnomAD
rs200111315 CA3402576	326	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1305662624 CA360798914	328	K>E		No	ClinGen gnomAD
TCGA novel	328	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360798890 rs1257415753	330	E>K		No	ClinGen gnomAD
rs1325578023 CA360798881	330	E>V		No	ClinGen gnomAD
rs769101327 CA3402575	331	D>N		No	ClinGen ExAC gnomAD
rs769101327 CA3402574	331	D>Y		No	ClinGen ExAC gnomAD
CA3402572 COSM1060641 COSM1594777 rs780330769	332	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs756920372 CA3402571	335	S>G		No	ClinGen ExAC gnomAD
CA127195461 rs1036228460	335	S>N		No	ClinGen gnomAD
CA127195451 rs201778167	336	P>L		No	ClinGen gnomAD
CA360798811 rs1450713518	336	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA127195447 rs878992506	337	H>Q		No	ClinGen Ensembl
CA127195446 rs1004676811	338	I>F		No	ClinGen TOPMed gnomAD
CA360798794 rs1004676811	338	I>V		No	ClinGen TOPMed gnomAD
rs148040234 CA3402569	339	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs757915014 CA3402568	340	R>T		No	ClinGen ExAC gnomAD
CA3402567 rs752580251	342	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA360798758 rs752580251	342	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs199685327 CA3402565	343	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	343	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200207377 CA3402562	345	M>I		No	ClinGen ExAC gnomAD
CA360798739 rs753657253	345	M>L		No	ClinGen ExAC TOPMed gnomAD
rs201529017 CA3402563	345	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3402564 rs753657253	345	M>V		No	ClinGen ExAC TOPMed gnomAD
CA127195405 rs201876043	346	S>Y		No	ClinGen gnomAD
CA127195396 rs201157235	349	E>A		No	ClinGen gnomAD
rs201157235 CA360798710	349	E>G		No	ClinGen gnomAD
CA127195401 rs755560806	349	E>Q		No	ClinGen Ensembl
CA127195394 rs200249926	350	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3137196 CA3402560 COSM3137195 rs202201315	351	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1375151598 CA360798687	352	R>S		No	ClinGen gnomAD
rs1385858112 CA360798675	354	K>R		No	ClinGen TOPMed
rs143480300 CA127195386	356	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3402558 rs769262955	357	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM3608428 CA3402557 COSM3608429 rs769262955	357	A>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs200192422 CA3402556	357	A>V		No	ClinGen ExAC TOPMed gnomAD
CA360798650 rs1323275228	358	K>R		No	ClinGen gnomAD
rs912707279 CA127195372	360	K>N		No	ClinGen Ensembl
CA127193526 rs139217341	361	L>F		No	ClinGen 1000Genomes
CA3402536 rs201861932	363	R>*	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1288654280 CA360798400	363	R>L		No	ClinGen TOPMed
TCGA novel	363	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759847698 CA3402533	366	V>I		No	ClinGen ExAC TOPMed gnomAD
rs372142499 CA3402532	367	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs376347090 CA3402531	367	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs372142499 CA360798382	367	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA127193504 rs372019532	368	D>N		No	ClinGen ESP TOPMed
CA360798377 rs372019532	368	D>Y		No	ClinGen ESP TOPMed
rs201230113 CA127193503	369	P>A		No	ClinGen Ensembl
TCGA novel	369	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147760022 CA127193500	370	K>E		No	ClinGen ESP TOPMed gnomAD
rs147760022 CA127193502	370	K>Q		No	ClinGen ESP TOPMed gnomAD
rs201956342 CA3402529	376	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs147398523 CA3402526	377	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147398523 COSM1060638 COSM1594780 CA3402525	377	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA360798322 rs1445927718	377	A>V		No	ClinGen TOPMed
CA3402524 rs750161266	378	S>T		No	ClinGen ExAC gnomAD
CA3402522 rs764937228	380	R>Q		No	ClinGen ExAC gnomAD
rs371295093 CA3402523	380	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs752708135 CA3402501	389	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1329244259 CA360798225	390	D>E		No	ClinGen gnomAD
rs765426315 CA3402500	390	D>G		No	ClinGen ExAC gnomAD
rs1218644104 CA360798204	393	P>L		No	ClinGen TOPMed
rs1263521984 CA360798205	393	P>S		No	ClinGen gnomAD
rs754355833 CA3402498	394	V>L		No	ClinGen ExAC gnomAD
CA360798196 rs1210599636	395	V>M		No	ClinGen gnomAD
rs761062478 CA3402496	397	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3402495 rs773610055	397	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	398	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1019334030 CA127193265	399	N>S		No	ClinGen TOPMed
COSM1696184 COSM1696185 CA3402494 rs201043216	400	R>C	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM1196373 CA3402493 rs187899365	400	R>H	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA3402492 rs202073046	401	R>G		No	ClinGen ExAC TOPMed gnomAD
CA360798162 rs1197332367	401	R>Q		No	ClinGen TOPMed gnomAD
CA127193242 rs202073046	401	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1262693305 CA360798150	403	Q>*		No	ClinGen TOPMed
CA127193210 rs763527593	403	Q>R		No	ClinGen gnomAD
rs1281262314 CA360798141	404	H>R		No	ClinGen gnomAD
rs200183523 CA127193194	412	T>A		No	ClinGen gnomAD
CA3402487 rs746767358	413	A>E		No	ClinGen ExAC gnomAD
CA3402488 rs746767358	413	A>V		No	ClinGen ExAC gnomAD
CA127193168 rs1001157754	417	Q>P		No	ClinGen TOPMed
rs776319847 CA3402471	418	V>I		No	ClinGen ExAC gnomAD
rs776319847 CA3402470	418	V>L		No	ClinGen ExAC gnomAD
rs201571384 CA127190941	419	A>S		No	ClinGen Ensembl
rs200725924 CA127190919	423	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3402467 rs199765721	425	G>E		No	ClinGen ExAC TOPMed gnomAD
CA3402466 rs771915992	428	E>A		No	ClinGen ExAC gnomAD
CA3402464 rs375706681	429	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1179468175 CA360797971	429	P>S		No	ClinGen gnomAD
rs201463916 CA127190899	430	H>Y		No	ClinGen Ensembl
CA360797960 rs1199020295	431	F>V		No	ClinGen gnomAD
rs1283527456 COSM1060637 COSM1594781 CA360797952	432	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA360797947 rs1215615327	432	D>V		No	ClinGen gnomAD
CA3402461 rs201701817	433	F>C		No	ClinGen ExAC gnomAD
CA3402460 rs199783184	435	R>G		No	ClinGen ExAC TOPMed gnomAD
rs150432961 CA360797778	436	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000879684 CA3402420 rs150432961	436	N>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs929498914 CA127190468	438	E>D		No	ClinGen TOPMed gnomAD
rs747535200 CA3402419	438	E>G		No	ClinGen ExAC gnomAD
CA127190462 rs778227188	439	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3402418 rs778227188	439	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3402417 rs192638050	439	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs192638050 CA3402416	439	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3402415 rs779825063	440	D>N		No	ClinGen ExAC gnomAD
rs1285736163 CA360797747	441	T>I		No	ClinGen TOPMed
CA360797743 rs1198077014	442	F>C		No	ClinGen gnomAD
CA360797734 rs1327607177	443	K>R		No	ClinGen TOPMed
rs778443240 CA3402413	447	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778443240 CA360797705	447	T>R		No	ClinGen ExAC TOPMed gnomAD
CA360797688 rs1248709354	450	R>C		No	ClinGen TOPMed gnomAD
rs200907354 CA3402410	450	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3402408 rs200907354	450	R>L		No	ClinGen ExAC TOPMed gnomAD
rs200907354 CA3402409	450	R>P		No	ClinGen ExAC TOPMed gnomAD
CA360797679 rs1320948773	452	A>S		No	ClinGen Ensembl
CA3402407 rs199736925	454	F>S		No	ClinGen ESP ExAC gnomAD
CA360797656 rs1580653323	455	L>F		No	ClinGen Ensembl
CA127190390 rs146300722	456	N>I		No	ClinGen ESP TOPMed
rs759732903	457	Y>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs765423662 CA3402406	457	Y>H		No	ClinGen ExAC gnomAD
rs1359703710 CA360797628	458	M>L		No	ClinGen gnomAD
rs1359703710 CA360797629	458	M>V		No	ClinGen gnomAD
rs139962653 CA3402392	459	S>I		No	ClinGen ESP ExAC gnomAD
CA360797616 rs1455252819	459	S>R		No	ClinGen gnomAD
rs139962653 CA127189244	459	S>T		No	ClinGen ESP ExAC gnomAD
CA127189240 rs992499643	460	D>A		No	ClinGen Ensembl
rs758378356 CA3402391	463	A>G		No	ClinGen ExAC TOPMed gnomAD
CA360797590 rs758378356	463	A>V		No	ClinGen ExAC TOPMed gnomAD
rs765007215 CA3402389	465	G>D		No	ClinGen ExAC gnomAD
CA3402390 rs752476036	465	G>S		No	ClinGen ExAC gnomAD
rs759736245 CA3402387	467	T>A		No	ClinGen ExAC gnomAD
rs766442821 COSM1594782 CA3402385 COSM1060635	468	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3402384 rs561909183	470	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1254824080 CA360797529	474	A>S		No	ClinGen TOPMed gnomAD
rs1254824080 CA360797530	474	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3402383 rs773477961	476	I>V		No	ClinGen ExAC gnomAD
rs1323635433 CA360797508	477	W>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3402382 rs772697844	478	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA360797334 rs1453257221	484	V>A		No	ClinGen gnomAD
rs763191975 CA3402361	485	F>L		No	ClinGen ExAC TOPMed gnomAD
rs371096180 CA127188941	487	Y>H		No	ClinGen ESP TOPMed
CA360797259 rs1338777329	488	N>D		No	ClinGen gnomAD
rs200845342 CA127188921	488	N>I		No	ClinGen ExAC TOPMed gnomAD
rs200845342 CA3402360	488	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	489	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360797194 rs746731286	491	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3402358 rs746731286	491	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3402359 rs199891002	491	R>W		No	ClinGen ExAC TOPMed gnomAD
rs771582184 CA3402356	493	G>A		No	ClinGen ExAC gnomAD
rs201287088 CA127188911	493	G>R		No	ClinGen gnomAD
rs1422645168 CA360797156	494	E>*		No	ClinGen TOPMed
TCGA novel	495	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778687666 CA3402354	497	Y>C		No	ClinGen ExAC
CA3402353 rs200102278	498	R>*	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs149540876 CA3402351	498	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs149540876 CA3402352 COSM1219069	498	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1176158812 CA360797068	499	T>A		No	ClinGen TOPMed
rs1580637894 CA360797058	499	T>I		No	ClinGen Ensembl
CA3402350 rs756340406	502	A>T		No	ClinGen ExAC gnomAD
rs1228670572 CA360796990	503	A>G		No	ClinGen TOPMed gnomAD
CA3402349 rs750689869	504	C>F		No	ClinGen ExAC TOPMed gnomAD
rs750689869 CA360796976	504	C>S		No	ClinGen ExAC TOPMed gnomAD
CA127188885 rs973360955	506	V>M		No	ClinGen TOPMed
rs964770539 CA127188877	507	L>F		No	ClinGen TOPMed gnomAD
CA360796913 rs1292102765	508	V>M		No	ClinGen TOPMed
CA127188874 rs894382745	511	K>R		No	ClinGen TOPMed gnomAD
rs1307010591 CA360796816	512	W>L		No	ClinGen TOPMed gnomAD
rs757441132 CA3402347	512	W>R		No	ClinGen ExAC gnomAD
CA127188866 rs1019013784	513	V>I		No	ClinGen Ensembl
CA3402334 rs779660327	514	S>F		No	ClinGen ExAC gnomAD
CA3402333 rs201773917	515	N>S		No	ClinGen ExAC TOPMed gnomAD
CA360796012 rs1433733601	517	W>*		No	ClinGen gnomAD
rs202146947 CA3402331	517	W>L		No	ClinGen ExAC gnomAD
CA3402330 rs757599113	519	H>P		No	ClinGen ExAC gnomAD
rs200583507 CA3402328	521	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3402327 rs758762582	521	R>Q		No	ClinGen ExAC gnomAD
CA3402326 rs753260673	522	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs201480050 CA3402325	524	E>A		No	ClinGen ExAC gnomAD
CA127187860 rs201480050	524	E>G		No	ClinGen ExAC gnomAD
CA3402324 rs138013404	529	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA3402323 rs376388435	530	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1419409775 CA360795859	532	T>A		No	ClinGen gnomAD
rs767145049 CA3402322	532	T>R		No	ClinGen ExAC TOPMed gnomAD
CA3402320 rs773670575	533	E>G		No	ClinGen ExAC gnomAD
rs150350809 CA3402319	536	D>R		No	ClinGen ESP ExAC TOPMed gnomAD

1 associated diseases with O15460

[MIM: 617238]: Myopia 25, autosomal dominant (MYP25)

A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. {ECO:0000269|PubMed:25741866}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. {ECO:0000269|PubMed:25741866}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for O15460

Type	Name	Position	InterPro Accession
domain	Oxoglutarate/iron-dependent dioxygenase	412 - 520	IPR005123
domain	Prolyl 4-hydroxylase, alpha subunit	336 - 519	IPR006620
domain	Prolyl 4-hydroxylase alpha-subunit, N-terminal	26 - 157	IPR013547
repeat	Tetratricopeptide repeat	207 - 240	IPR019734
domain	Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain	416 - 519	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

5 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.
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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

4 GO annotations of molecular function

Name	Definition
electron transfer activity	Any molecular entity that serves as an electron acceptor and electron donor in an electron transport chain. An electron transport chain is a process in which a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient.
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.

1 GO annotations of biological process

Name	Definition
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
P13674	P4HA1	Prolyl 4-hydroxylase subunit alpha-1	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
MKLWVSALLM	AWFGVLSCVQ	AEFFTSIGHM	TDLIYAEKEL	VQSLKEYILV	EEAKLSKIKS
70	80	90	100	110	120
WANKMEALTS	KSAADAEGYL	AHPVNAYKLV	KRLNTDWPAL	EDLVLQDSAA	GFIANLSVQR
130	140	150	160	170	180
QFFPTDEDEI	GAAKALMRLQ	DTYRLDPGTI	SRGELPGTKY	QAMLSVDDCF	GMGRSAYNEG
190	200	210	220	230	240
DYYHTVLWME	QVLKQLDAGE	EATTTKSQVL	DYLSYAVFQL	GDLHRALELT	RRLLSLDPSH
250	260	270	280	290	300
ERAGGNLRYF	EQLLEEEREK	TLTNQTEAEL	ATPEGIYERP	VDYLPERDVY	ESLCRGEGVK
310	320	330	340	350	360
LTPRRQKRLF	CRYHHGNRAP	QLLIAPFKEE	DEWDSPHIVR	YYDVMSDEEI	ERIKEIAKPK
370	380	390	400	410	420
LARATVRDPK	TGVLTVASYR	VSKSSWLEED	DDPVVARVNR	RMQHITGLTV	KTAELLQVAN
430	440	450	460	470	480
YGVGGQYEPH	FDFSRNDERD	TFKHLGTGNR	VATFLNYMSD	VEAGGATVFP	DLGAAIWPKK
490	500	510	520	530
GTAVFWYNLL	RSGEGDYRTR	HAACPVLVGC	KWVSNKWFHE	RGQEFLRPCG	STEVD