AiPD: Autoinhibited Protein Database

O00116

Gene name	AGPS (AAG5)
Protein name	Alkyldihydroxyacetonephosphate synthase, peroxisomal
Names	Alkyl-DHAP synthase, Aging-associated gene 5 protein, Alkylglycerone-phosphate synthase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8540
EC number	2.5.1.26: Transferring alkyl or aryl groups, other than methyl groups
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

4-106 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

4-106 (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 O00116

Entry ID	Method	Resolution	Chain	Position	Source
AF-O00116-F1	Predicted				AlphaFoldDB

353 variants for O00116

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA349700219 rs1233318758 RCV001132210 RCV001279420	5	A>V	Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata type 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA1979992 RCV000348540 RCV000423931 RCV000910755 rs557931141	12	G>D	Rhizomelic chondrodysplasia punctata type 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1217837187 CA349700265 RCV001279421	14	G>C	Rhizomelic chondrodysplasia punctata [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA1980002 rs767584572 RCV000400035 RCV002521338	22	A>G	Inborn genetic diseases Rhizomelic chondrodysplasia punctata type 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002556854 rs759572190 RCV002556855 CA1980001 RCV001133139	22	A>T	Inborn genetic diseases Rhizomelic chondrodysplasia punctata type 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1980005 RCV000352151 rs764286061 RCV002521340	28	D>V	Rhizomelic chondrodysplasia punctata type 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000973782 RCV001276316 RCV001002207 CA1980012 rs778087162	50	R>W	Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata type 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001279423 rs774854340 CA1980017	66	A>V	Rhizomelic chondrodysplasia punctata [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001279424 rs1454806934 CA349700805	67	A>V	Rhizomelic chondrodysplasia punctata [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA249118 RCV000764289 RCV000202921 COSM4133254 RCV002515498 rs560217758 RCV000676026	72	T>A	thyroid Inborn genetic diseases Rhizomelic chondrodysplasia punctata type 3 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA10613111 RCV000358824 rs886055164	151	N>Y	Rhizomelic chondrodysplasia punctata type 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_066929	182	R>Q	RCDP3; severely reduced protein levels [UniProt]	Yes	UniProt
RCV001279428 rs1686432818	194	I>M	Rhizomelic chondrodysplasia punctata [ClinVar]	Yes	ClinVar dbSNP
RCV000324114 rs886055165 CA10612881	265	R>*	Rhizomelic chondrodysplasia punctata type 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_025895 CA118387 RCV000007025 rs121434412	309	T>I	Rhizomelic chondrodysplasia punctata type 3 RCDP3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
CA349704449 rs1171884922 RCV001279430	318	A>T	Rhizomelic chondrodysplasia punctata [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001000842 CA60900286 rs867493363	379	I>V	Rhizomelic chondrodysplasia punctata type 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs144444120 CA1980274 RCV002556824 RCV001129585	415	P>L	Rhizomelic chondrodysplasia punctata type 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs121434411 VAR_005002 CA118386 RCV000007024	419	R>H	Variant assessed as Somatic; 0.0 impact. Rhizomelic chondrodysplasia punctata type 3 RCDP3; loss of enzyme activity [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD
RCV001279432 rs1688501814	459	D>G	Rhizomelic chondrodysplasia punctata [ClinVar]	Yes	ClinVar dbSNP
RCV000007026 VAR_025896 CA118388 rs121434413	469	L>P	Rhizomelic chondrodysplasia punctata type 3 RCDP3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_066930	471	E>K	RCDP3; severely reduced protein levels [UniProt]	Yes	UniProt
RCV000351202 CA10611958 rs886055167	533	P>T	Rhizomelic chondrodysplasia punctata type 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_066931 RCV000029144 CA129916 rs387907214	568	T>M	Rhizomelic chondrodysplasia punctata type 3 RCDP3; does not affect protein levels [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA10613119 RCV000288111 rs886055168	588	I>V	Rhizomelic chondrodysplasia punctata [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001279435 rs769818292 CA1980464	625	Q>P	Rhizomelic chondrodysplasia punctata [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs946047503 CA61411755	2	A>E		No	ClinGen gnomAD
rs1042389328 CA349700203	3	E>*		No	ClinGen gnomAD
RCV000595030 rs1042389328 CA61411756	3	E>K		No	ClinGen ClinVar dbSNP gnomAD
CA61411757 rs1035761521	4	A>S		No	ClinGen TOPMed gnomAD
rs1197778230 CA349700213	4	A>V		No	ClinGen gnomAD
CA349700222 rs1489246000	6	A>S		No	ClinGen gnomAD
RCV002525363 RCV000443317 CA1979985 rs539573652	7	A>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1979986 rs753630762	8	A>S		No	ClinGen ExAC gnomAD
rs757211193 CA1979987	8	A>V		No	ClinGen ExAC gnomAD
CA61411758 rs370124842	9	G>A		No	ClinGen TOPMed gnomAD
CA349700243 rs1280522155	10	G>E		No	ClinGen TOPMed
rs557931141 CA349700255	12	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779786297 CA1979993	13	L>F		No	ClinGen ExAC gnomAD
rs1400544926 CA349700257	13	L>M		No	ClinGen gnomAD
CA1979995 rs746673264	14	G>D		No	ClinGen ExAC gnomAD
rs746673264 CA1979994	14	G>V		No	ClinGen ExAC gnomAD
CA349700269 rs1218864725	15	A>S	Variant assessed as Somatic; 0.0001192 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1979997 rs749653767	15	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1195194823 CA349700276	16	G>A		No	ClinGen TOPMed gnomAD
CA349700278 rs1477760578	17	A>T		No	ClinGen gnomAD
CA349700287 rs1361225479	18	S>N		No	ClinGen TOPMed
rs1416345521 CA349700286	18	S>R		No	ClinGen gnomAD
rs1346009699 CA349700299	19	Y>*		No	ClinGen gnomAD
CA349700293 rs1164269736	19	Y>D		No	ClinGen gnomAD
rs1574332666 CA349700303	20	G>A		No	ClinGen Ensembl
rs1012036383 CA61411760	20	G>R		No	ClinGen TOPMed gnomAD
CA61411762 rs112826149	25	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1311638855 CA349700330	25	R>Q		No	ClinGen gnomAD
CA1980004 rs112826149	25	R>W		No	ClinGen ExAC TOPMed gnomAD
CA349700385 rs1284079055	28	D>N		No	ClinGen TOPMed
CA349700416 rs1283207251	30	D>E		No	ClinGen gnomAD
CA349700427 rs1317555779	31	P>L		No	ClinGen TOPMed
rs1025709509 CA61411764	31	P>S		No	ClinGen Ensembl
rs1025709509 CA61411765	31	P>T		No	ClinGen Ensembl
rs576570393 CA349700433	32	D>A		No	ClinGen 1000Genomes
rs757027567 CA349700439 CA1980008	32	D>E		No	ClinGen ExAC TOPMed gnomAD
CA61411766 rs576570393	32	D>G		No	ClinGen 1000Genomes
CA349700469 rs1212149084	35	G>E		No	ClinGen gnomAD
CA349700506 rs1181631253	38	L>R		No	ClinGen gnomAD
CA1980009 rs765185697	39	R>W		No	ClinGen ExAC TOPMed gnomAD
CA349700517 rs1156964980	40	V>L		No	ClinGen gnomAD
rs1044647338 CA61411767	42	S>F		No	ClinGen TOPMed gnomAD
CA1980010 rs750335314	43	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1390145205 CA349700592	46	L>P		No	ClinGen Ensembl
CA349700605 rs1484968124	48	R>G		No	ClinGen TOPMed gnomAD
CA349700606 rs1484968124	48	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs757924179 CA1980011	49	P>L		No	ClinGen ExAC TOPMed gnomAD
rs754647491 CA1980013	50	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA61411768 rs780755840	51	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1241801131 CA349700637	51	E>G		No	ClinGen gnomAD
rs1352247686 CA349700651	52	A>V		No	ClinGen gnomAD
rs1441173598 CA349700679	54	S>R		No	ClinGen gnomAD
CA349700666 rs1462668353	54	S>R		No	ClinGen gnomAD
CA349700673 rs1281425025	54	S>T		No	ClinGen gnomAD
rs1196082219 CA349700681	55	T>A		No	ClinGen TOPMed
CA349700699 rs1209911493	56	N>S		No	ClinGen gnomAD
rs1264921410 CA349700718	57	E>D		No	ClinGen TOPMed
rs1219551091 CA349700734	58	C>W		No	ClinGen TOPMed
rs1326235470 CA349700766	61	R>W		No	ClinGen gnomAD
rs1174368119 CA349700809	68	T>K		No	ClinGen gnomAD
rs1174368119 CA349700811	68	T>M		No	ClinGen gnomAD
CA349700819 rs967836221	70	A>S		No	ClinGen TOPMed gnomAD
CA61411772 rs967836221	70	A>T		No	ClinGen TOPMed gnomAD
rs560217758 CA349700831	72	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA349700833 rs1559027397	72	T>R		No	ClinGen Ensembl
rs1400682396 CA349700836	73	A>P		No	ClinGen gnomAD
CA349700841 rs775541152	74	T>P		No	ClinGen ExAC gnomAD
rs775541152 CA1980018	74	T>S		No	ClinGen ExAC gnomAD
CA349700848 rs1465080160	75	P>A		No	ClinGen TOPMed
rs1172337808 CA349700863	77	A>G		No	ClinGen TOPMed
CA1980020 rs764332180	78	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA349700875 rs1189704825	79	E>V		No	ClinGen TOPMed
CA1980021 rs200828998	80	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1219105840 CA349700888	81	G>A		No	ClinGen TOPMed gnomAD
rs1219105840 CA349700887	81	G>V		No	ClinGen TOPMed gnomAD
rs1198536091 CA349700895	82	T>S		No	ClinGen TOPMed
TCGA novel	85	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349701283 rs1287816421	88	Q>L		No	ClinGen gnomAD
rs1451173400 CA349701298	90	V>A		No	ClinGen gnomAD
CA349701324 rs1574353212	93	W>C		No	ClinGen Ensembl
CA349701352 rs1263882274	97	G>E		No	ClinGen gnomAD
CA61414675 rs1031310764	101	S>F		No	ClinGen Ensembl
rs575504207 CA1980031	104	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs746296095 CA1980032	104	I>T		No	ClinGen ExAC
CA349701437 rs1436506173	109	G>S		No	ClinGen TOPMed
CA349701475 rs1394330746	114	T>S		No	ClinGen TOPMed
TCGA novel	115	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	117	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349701837 rs1443589177	120	L>V		No	ClinGen TOPMed gnomAD
rs1361828042 CA349701906	129	K>R		No	ClinGen gnomAD
CA349701933 rs1168409268	132	I>M		No	ClinGen TOPMed
rs1298188753 CA349701939	133	Q>H		No	ClinGen gnomAD
rs747488115 CA1980054	133	Q>K		No	ClinGen ExAC gnomAD
CA349701938 rs1285013223	133	Q>R		No	ClinGen gnomAD
CA1980055 rs769268056	135	T>A		No	ClinGen ExAC gnomAD
rs920285676 CA61416054	135	T>I		No	ClinGen gnomAD
CA349701957 rs1340133763	136	L>P		No	ClinGen gnomAD
rs536406455 CA1980056	137	G>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	138	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769887090 CA1980058	140	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1980059 rs773588383	141	E>G		No	ClinGen ExAC gnomAD
CA1980061 rs144836649	142	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA1980060 rs144836649	142	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs368286128 CA1980063	147	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs909783707 CA61416318	149	S>F		No	ClinGen TOPMed
rs1433632994 CA349702162	153	S>R		No	ClinGen TOPMed gnomAD
CA1980073 rs781748049	154	D>V		No	ClinGen ExAC gnomAD
CA1980074 rs748129984	155	T>I		No	ClinGen ExAC
CA349702221 rs1435442375	158	S>F		No	ClinGen gnomAD
rs201462821 CA61416319	165	L>P		No	ClinGen 1000Genomes TOPMed
CA349702286 rs201462821	165	L>R		No	ClinGen 1000Genomes TOPMed
CA1980076 rs778073526	166	H>L		No	ClinGen ExAC gnomAD
TCGA novel	166	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1466523179 CA349702325	171	T>A		No	ClinGen gnomAD
CA349702334 rs1398412457	172	N>S		No	ClinGen gnomAD
CA349702374 rs1294209081	178	E>Q		No	ClinGen gnomAD
CA1980078 rs771336236	180	D>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel rs1686426425 RCV001214616	182	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinVar NCI-TCGA dbSNP
rs1193429226 CA349702438	187	H>R		No	ClinGen TOPMed
rs1340785576 CA349702457	188	G>D		No	ClinGen TOPMed
rs200503696 CA349702518	196	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA1980105 rs771907891	196	L>S		No	ClinGen ExAC TOPMed gnomAD
CA1980107 rs746939822	201	M>T		No	ClinGen ExAC gnomAD
CA349702547 rs1574366460	201	M>V		No	ClinGen Ensembl
rs140295002 CA61416330	202	F>L		No	ClinGen ESP TOPMed gnomAD
CA349702570 rs1345538545	204	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1182780984 CA349702599	208	I>T		No	ClinGen gnomAD
CA349702596 rs1305320374	208	I>V		No	ClinGen TOPMed
rs1422241450 CA349702620	211	W>L		No	ClinGen gnomAD
rs1416279093 CA349702616	211	W>R		No	ClinGen gnomAD
CA61416332 rs868732459	212	P>L		No	ClinGen Ensembl
CA61416333 rs972260230	213	T>A		No	ClinGen TOPMed
CA349702819 rs1243711581	216	D>G		No	ClinGen TOPMed
rs753942749 CA1980121	219	V>F		No	ClinGen ExAC TOPMed gnomAD
rs757432689 CA1980122	227	K>R		No	ClinGen ExAC gnomAD
rs1358431553 CA349702906	229	N>H		No	ClinGen TOPMed
rs1191231755 CA349702936	233	I>V		No	ClinGen gnomAD
CA349702949 rs1405755703	235	I>V		No	ClinGen TOPMed gnomAD
RCV001303086 rs1686634518	238	G>R		No	ClinVar dbSNP
rs1263885340 CA349703007	242	S>A		No	ClinGen TOPMed
CA349703015 rs1175404772	243	Y>C		No	ClinGen gnomAD
CA349703016 rs1175404772	243	Y>F		No	ClinGen gnomAD
CA349703011 rs1468083319	243	Y>H		No	ClinGen gnomAD
rs545636352 CA1980137	245	L>V		No	ClinGen ExAC TOPMed gnomAD
rs761928738 CA1980139	246	M>I		No	ClinGen ExAC gnomAD
CA1980138 rs754424714	246	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1438769290 CA349703041	247	C>F		No	ClinGen gnomAD
rs1436568201 CA349703049	248	P>L		No	ClinGen gnomAD
CA349703046 rs1217358997	248	P>T		No	ClinGen TOPMed
rs149918812 COSM222721 CA1980140	249	A>T	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA1980141 rs374643265	254	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1980142 rs758616636	254	T>I		No	ClinGen ExAC gnomAD
rs1259066753 CA349703094	255	I>M		No	ClinGen gnomAD
CA349703089 rs1389641802	255	I>V		No	ClinGen TOPMed
CA1980143 rs780193929	256	I>V		No	ClinGen ExAC gnomAD
TCGA novel	263	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1980145 rs754801743 CA1980146	263	M>L		No	ClinGen ExAC gnomAD
COSM1009935 rs1372190083 CA349703173	265	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1472901599 CA349703185	267	L>I		No	ClinGen gnomAD
CA349703212 rs1423447287	271	E>K		No	ClinGen gnomAD
rs1299402253 CA349703235	273	N>K		No	ClinGen gnomAD
CA349703254 rs1362978449 COSM1182234	276	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA349703262 rs1559049395	277	H>Q		No	ClinGen Ensembl
CA61417212 rs990125717	279	E>G		No	ClinGen Ensembl
CA349703283 rs1318025276	281	G>S		No	ClinGen gnomAD
rs1341320084 CA349703289	282	I>V		No	ClinGen gnomAD
CA349703299 rs1247187221	283	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	283	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349703300 rs1247187221	283	T>R		No	ClinGen TOPMed gnomAD
rs767283923 CA1980163	290	Q>L		No	ClinGen ExAC gnomAD
rs377646994 CA61419002	292	K>E		No	ClinGen ESP
TCGA novel	293	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349704293 rs1251976301	294	S>I		No	ClinGen gnomAD
CA349704296 rs1559056849	295	G>S		No	ClinGen Ensembl
rs1181801479 CA349704325 RCV001337691	299	G>S		No	ClinGen ClinVar dbSNP gnomAD
CA349704399 rs121434412	309	T>N		No	ClinGen TOPMed
rs1385845465 CA349704401	310	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	310	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA61419004 rs866107678	313	W>*		No	ClinGen Ensembl
CA1980187 rs375775258	317	R>C		No	ClinGen ESP ExAC gnomAD
rs375775258 CA349704446	317	R>G		No	ClinGen ESP ExAC gnomAD
CA1980188 rs756732115	317	R>H		No	ClinGen ExAC gnomAD
TCGA novel	320	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349704469 rs1559056898	321	M>L		No	ClinGen Ensembl
rs1390890779	323	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA349704495 rs1417635719	324	N>S		No	ClinGen gnomAD
CA60890217 rs959964028	335	H>R		No	ClinGen TOPMed gnomAD
rs1324665159 CA349355415	338	M>L		No	ClinGen gnomAD
CA1980209 rs749904607	339	V>I		No	ClinGen ExAC gnomAD
CA60890224 rs868073537	340	T>A		No	ClinGen Ensembl
CA349355533 rs1432598019	345	I>T		No	ClinGen gnomAD
CA349355651 rs1278557979	353	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs779789989 COSM3379867 CA1980211	353	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1488857032 CA349355667	354	M>V		No	ClinGen gnomAD
CA1980212 rs751188279	356	T>A		No	ClinGen ExAC gnomAD
rs1212155554 CA349355804	360	I>N		No	ClinGen TOPMed
CA349355867 rs1165584137	363	F>L		No	ClinGen gnomAD
rs777992602 CA1980214	364	I>V		No	ClinGen ExAC gnomAD
CA1980233 rs780944406	370	T>S		No	ClinGen ExAC gnomAD
CA349360983 rs1282763146	375	T>A		No	ClinGen gnomAD
CA1980236 rs779325423	380	K>N		No	ClinGen ExAC gnomAD
CA1980238 rs201449654	387	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1340948281 CA349361323	387	Y>H		No	ClinGen TOPMed
CA349361348 rs1238809278	388	Q>K		No	ClinGen gnomAD
CA349361512 rs1405692008	394	A>P		No	ClinGen gnomAD
CA349361547 rs1418338955	396	P>S		No	ClinGen TOPMed gnomAD
CA349361553 rs1461099579	397	N>D		No	ClinGen TOPMed
CA349361568 rs1421021125	397	N>S		No	ClinGen TOPMed
rs201282509 CA1980240	402	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776944766 CA1980241	403	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1980243 rs769728711	404	C>F		No	ClinGen ExAC gnomAD
rs1443721961 CA349361743	406	R>K		No	ClinGen TOPMed gnomAD
rs773201404 CA1980244	408	I>T		No	ClinGen ExAC gnomAD
rs938658201 CA60900368	409	A>S		No	ClinGen TOPMed
rs762982836 CA1980245	410	K>E		No	ClinGen ExAC gnomAD
TCGA novel	411	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1980273 rs377171234	413	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA349364008 rs1424742044	418	I>V		No	ClinGen gnomAD
rs760314524 CA1980276	419	R>C		No	ClinGen ExAC gnomAD
rs1352237725 CA349364101	421	M>V		No	ClinGen gnomAD
CA349364174 rs1319350972	423	N>S		No	ClinGen gnomAD
CA1980278 rs369970802	424	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA60909362 rs373789674	430	H>Y		No	ClinGen Ensembl
CA1980291 rs770761305	434	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1980292 rs774097491	435	Q>R		No	ClinGen ExAC
CA349364447 rs1454677217	436	V>F		No	ClinGen gnomAD
rs1197895140 CA349364491	439	I>L		No	ClinGen TOPMed
TCGA novel	440	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	440	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	445	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1980296 rs200882758	446	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1203139588 CA349364697	447	L>F		No	ClinGen TOPMed gnomAD
rs768259501 CA1980297	447	L>I		No	ClinGen ExAC gnomAD
TCGA novel	449	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	449	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349364718 rs1267149388	449	K>Q		No	ClinGen gnomAD
rs1559072835	449	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	449	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1337672529 CA349364754	450	F>L		No	ClinGen TOPMed
rs763171247 CA1980299	450	F>L		No	ClinGen ExAC gnomAD
CA349364793 rs1253361507	452	I>M		No	ClinGen TOPMed
rs1420383662 CA349364787	452	I>T		No	ClinGen gnomAD
CA349364780 rs1240650192	452	I>V		No	ClinGen gnomAD
rs766755782 CA1980300	453	T>A		No	ClinGen ExAC gnomAD
rs890045184 CA60909807	455	F>L		No	ClinGen TOPMed
CA349365011 rs1481621180	456	K>*		No	ClinGen gnomAD
rs768169404 CA1980320	457	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA349365050 rs1377263907	458	F>Y		No	ClinGen gnomAD
rs769374796 CA1980323	460	P>R		No	ClinGen ExAC gnomAD
rs761526892 CA1980322	460	P>S		No	ClinGen ExAC TOPMed gnomAD
CA349365128 rs1407862856	462	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA537782173 rs1225092042	465	V>*		No	ClinGen gnomAD
CA1980327 rs753257258	470	F>L		No	ClinGen ExAC gnomAD
CA1980328 rs759052412	473	D>A		No	ClinGen ExAC gnomAD
CA60909809 rs759052412	473	D>G		No	ClinGen ExAC gnomAD
CA1980329 rs764254438	474	R>H		No	ClinGen ExAC TOPMed gnomAD
rs764254438 CA349365350	474	R>L		No	ClinGen ExAC TOPMed gnomAD
CA60909810 rs1049682424	480	H>R		No	ClinGen TOPMed gnomAD
CA1980331 rs757468563	482	K>Q		No	ClinGen ExAC gnomAD
rs369244455 CA60909813	484	V>L		No	ClinGen ESP TOPMed gnomAD
rs1574012951 CA349365434	486	D>G		No	ClinGen Ensembl
rs1162448818 CA349367570	496	A>T		No	ClinGen gnomAD
CA349367772 rs1290306807	502	Q>R		No	ClinGen gnomAD
rs1362550657 CA349367796	503	R>G		No	ClinGen gnomAD
rs1227042587 CA349368042	509	Y>C		No	ClinGen gnomAD
rs750626738 CA1980354	510	V>I		No	ClinGen ExAC gnomAD
TCGA novel	512	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1980373 rs371588857	522	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA60911282 rs1009949342	523	V>G		No	ClinGen TOPMed
CA1980375 rs765220098	526	E>D		No	ClinGen ExAC gnomAD
CA349369730 rs1559077311	532	A>T		No	ClinGen Ensembl
TCGA novel	533	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	533	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA60911288 rs769160764	535	D>E		No	ClinGen TOPMed gnomAD
CA349371055 rs1163903373	540	L>R		No	ClinGen TOPMed
CA60912464 rs993306315	543	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	546	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA60912468 rs951741391	546	E>G		No	ClinGen TOPMed gnomAD
CA349371168 rs1270641545	549	T>A		No	ClinGen gnomAD
rs771105736 CA1980397	554	E>D		No	ClinGen ExAC TOPMed gnomAD
CA1980398 rs774557457	555	K>R		No	ClinGen ExAC gnomAD
CA349372086 rs1411152201	560	A>P		No	ClinGen gnomAD
rs1411152201 CA349372090	560	A>S		No	ClinGen gnomAD
rs1433034284 CA349373856	573	A>T		No	ClinGen gnomAD
rs1186774237 CA349373867	573	A>V		No	ClinGen TOPMed gnomAD
CA349373891 rs1364394121	575	A>V		No	ClinGen gnomAD
rs774467690 CA1980419	577	I>N		No	ClinGen ExAC gnomAD
rs1246698377 CA349373921	577	I>V		No	ClinGen gnomAD
CA349374012 rs1354044555	580	Y>H		No	ClinGen gnomAD
CA60913957 rs985604041	584	N>Y		No	ClinGen Ensembl
CA349374169 rs1465942573	585	Y>C		No	ClinGen gnomAD
rs1033186594 CA60913961	586	R>K		No	ClinGen Ensembl
rs911262936 CA60913969	589	S>R		No	ClinGen TOPMed
rs370003716 CA1980423	590	D>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	591	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1980425 rs764082619	593	T>I		No	ClinGen ExAC gnomAD
CA1980428 rs764836897	594	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1980430 rs757967594	597	Q>E		No	ClinGen ExAC gnomAD
rs1455792685 CA349374541	598	T>A		No	ClinGen gnomAD
CA349375888 rs1488614169	600	A>E		No	ClinGen TOPMed
TCGA novel	600	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	600	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	601	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349375920 rs1253687566	601	A>T		No	ClinGen gnomAD
CA349375939 COSM1009941 rs1290380458	602	A>S	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
CA349375969 rs1343662374	603	R>G		No	ClinGen gnomAD
rs564164778 CA1980443	603	R>I		No	ClinGen 1000Genomes ExAC gnomAD
CA349376014 rs532887858	604	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1482307617 CA349376110	606	I>N		No	ClinGen gnomAD
rs1361014222 CA349376159	607	L>R		No	ClinGen TOPMed
CA1980445 rs765315290	609	N>H		No	ClinGen ExAC gnomAD
CA349376202 rs1265615518	609	N>S		No	ClinGen TOPMed
CA60914447 rs868203612	612	S>R		No	ClinGen Ensembl
rs143721315 CA1980463	623	R>Q		No	ClinGen ESP ExAC gnomAD
CA349366362 rs1485158970	624	K>N		No	ClinGen TOPMed
CA349366410 rs769818292	625	Q>R		No	ClinGen ExAC gnomAD
CA1980465 rs773210324	630	S>G		No	ClinGen ExAC gnomAD
TCGA novel	634	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1323915743 CA349366896	638	M>I		No	ClinGen gnomAD
rs1182775691 CA349366954	640	K>N		No	ClinGen TOPMed
CA60903066 rs866519109	641	S>F		No	ClinGen Ensembl
rs759155247 CA1980469	645	Y>F		No	ClinGen ExAC gnomAD
rs780246787 CA60903071	645	Y>H		No	ClinGen Ensembl
rs767204142 CA1980470	646	V>A		No	ClinGen ExAC TOPMed gnomAD
CA60903081 rs947907752	646	V>L		No	ClinGen Ensembl
CA1980471 rs754151191	649	N>S		No	ClinGen ExAC gnomAD
TCGA novel	652	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

1 associated diseases with O00116

[MIM: 600121]: Rhizomelic chondrodysplasia punctata 3 (RCDP3)

A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity. {ECO:0000269|PubMed:11152660, ECO:0000269|PubMed:21990100, ECO:0000269|PubMed:9553082}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity. {ECO:0000269|PubMed:11152660, ECO:0000269|PubMed:21990100, ECO:0000269|PubMed:9553082}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for O00116

Type	Name	Position	InterPro Accession
domain	FAD-binding oxidoreductase/transferase, type 4, C-terminal	385 - 655	IPR004113
domain	FAD linked oxidase, N-terminal	206 - 345	IPR006094
domain	FAD-binding domain, PCMH-type	202 - 384	IPR016166

Functions

		Description
EC Number	2.5.1.26	Transferring alkyl or aryl groups, other than methyl groups
Subcellular Localization	Peroxisome membrane Peroxisome
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 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.
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.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
peroxisomal matrix	The volume contained within the membranes of a peroxisome; in many cells the matrix contains a crystalloid core largely composed of urate oxidase.
peroxisomal membrane	The lipid bilayer surrounding a peroxisome.
peroxisome	A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism.

2 GO annotations of molecular function

Name	Definition
alkylglycerone-phosphate synthase activity	Catalysis of the reaction: 1-acyl-glycerone 3-phosphate + a long-chain alcohol = 1-alkyl-glycerone 3-phosphate + a long-chain acid anion.
FAD binding	Binding to the oxidized form, FAD, of flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes.

2 GO annotations of biological process

Name	Definition
ether lipid biosynthetic process	The chemical reactions and pathways resulting in the formation of ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol.
lipid biosynthetic process	The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8C0I1	Agps	Alkyldihydroxyacetonephosphate synthase, peroxisomal	Mus musculus (Mouse)	PR
Q9EQR2	Agps	Alkyldihydroxyacetonephosphate synthase, peroxisomal	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAEAAAAAGG	TGLGAGASYG	SAADRDRDPD	PDRAGRRLRV	LSGHLLGRPR	EALSTNECKA
70	80	90	100	110	120
RRAASAATAA	PTATPAAQES	GTIPKKRQEV	MKWNGWGYND	SKFIFNKKGQ	IELTGKRYPL
130	140	150	160	170	180
SGMGLPTFKE	WIQNTLGVNV	EHKTTSKASL	NPSDTPPSVV	NEDFLHDLKE	TNISYSQEAD
190	200	210	220	230	240
DRVFRAHGHC	LHEIFLLREG	MFERIPDIVL	WPTCHDDVVK	IVNLACKYNL	CIIPIGGGTS
250	260	270	280	290	300
VSYGLMCPAD	ETRTIISLDT	SQMNRILWVD	ENNLTAHVEA	GITGQELERQ	LKESGYCTGH
310	320	330	340	350	360
EPDSLEFSTV	GGWVSTRASG	MKKNIYGNIE	DLVVHIKMVT	PRGIIEKSCQ	GPRMSTGPDI
370	380	390	400	410	420
HHFIMGSEGT	LGVITEATIK	IRPVPEYQKY	GSVAFPNFEQ	GVACLREIAK	QRCAPASIRL
430	440	450	460	470	480
MDNKQFQFGH	ALKPQVSSIF	TSFLDGLKKF	YITKFKGFDP	NQLSVATLLF	EGDREKVLQH
490	500	510	520	530	540
EKQVYDIAAK	FGGLAAGEDN	GQRGYLLTYV	IAYIRDLALE	YYVLGESFET	SAPWDRVVDL
550	560	570	580	590	600
CRNVKERITR	ECKEKGVQFA	PFSTCRVTQT	YDAGACIYFY	FAFNYRGISD	PLTVFEQTEA
610	620	630	640	650
AAREEILANG	GSLSHHHGVG	KLRKQWLKES	ISDVGFGMLK	SVKEYVDPNN	IFGNRNLL