AiPD: Autoinhibited Protein Database

Q9HC38

Gene name	GLOD4 (C17orf25, CGI-150, My027)
Protein name	Glyoxalase domain-containing protein 4
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51031
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

252-313 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

252-313 (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 Q9HC38

Entry ID	Method	Resolution	Chain	Position	Source
3ZI1	X-ray	190 A	A	1-287	PDB
AF-Q9HC38-F1	Predicted				AlphaFoldDB

293 variants for Q9HC38

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA397499019 rs1185172617	2	A>V		No	ClinGen gnomAD
CA397499015 rs1441704918	3	A>T		No	ClinGen gnomAD
CA8263430 rs745537767	3	A>V		No	ClinGen ExAC gnomAD
CA8263429 rs778584050	4	R>C		No	ClinGen ExAC TOPMed gnomAD
CA397499003 rs1284823811	4	R>L		No	ClinGen TOPMed gnomAD
CA8263428 rs756472020	5	R>G		No	ClinGen ExAC gnomAD
CA8263427 rs377602510	6	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs377602510 CA8263426	6	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs752007828 CA8263424	7	L>P		No	ClinGen ExAC gnomAD
rs1033199940 CA286693684	7	L>V		No	ClinGen TOPMed
rs762984020 CA8263423	8	H>P		No	ClinGen ExAC gnomAD
CA8263422 rs762984020	8	H>R		No	ClinGen ExAC gnomAD
CA286693674 rs201266054	8	H>Y		No	ClinGen TOPMed gnomAD
CA8263421 rs116603194	9	F>C		No	ClinGen 1000Genomes ExAC
rs900766500 CA286693652	10	V>L		No	ClinGen TOPMed
rs150838091 CA8263419	13	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200877796 CA8263418	14	G>R		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs760700323 CA8263416	16	R>G		No	ClinGen ExAC gnomAD
rs1343628118 CA397498928	16	R>L		No	ClinGen TOPMed
rs760700323 CA8263417	16	R>S		No	ClinGen ExAC gnomAD
rs1040467736 CA286693632	17	F>L		No	ClinGen Ensembl
rs944373846 CA397498920	18	Q>*		No	ClinGen TOPMed
CA286693625 rs944373846	18	Q>E		No	ClinGen TOPMed
rs775518338 CA397498918	18	Q>P		No	ClinGen ExAC gnomAD
rs775518338 CA8263415	18	Q>R		No	ClinGen ExAC gnomAD
rs1476540211 CA397498911	19	T>K		No	ClinGen gnomAD
CA397498909 rs1476540211	19	T>M		No	ClinGen gnomAD
rs1222623065 CA397498904	20	A>G		No	ClinGen TOPMed gnomAD
rs369254414 CA8263414	20	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA397498905 rs1222623065	20	A>V		No	ClinGen TOPMed gnomAD
CA397498901 rs1287321619	21	R>C		No	ClinGen gnomAD
rs1208418211 CA397498900	21	R>H		No	ClinGen TOPMed gnomAD
rs879191124 CA286693615	23	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1271259672 CA397498881	24	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397498858 rs1242349264	28	G>R		No	ClinGen TOPMed
rs1311887646 CA397498817	31	V>A		No	ClinGen gnomAD
rs1311887646 CA397498816	31	V>G		No	ClinGen gnomAD
rs1319742825 CA397498821	31	V>M		No	ClinGen TOPMed gnomAD
CA397498813 rs1174169971	32	E>*		No	ClinGen TOPMed
CA397498811 rs1597589966	32	E>G		No	ClinGen Ensembl
CA397498805 rs1597589962	33	S>A		No	ClinGen Ensembl
CA397498777 rs1168850842	37	A>P		No	ClinGen TOPMed gnomAD
rs1049724484 CA286692691	39	L>R		No	ClinGen TOPMed gnomAD
CA397498757 rs1597589942	40	E>G		No	ClinGen Ensembl
CA397498751 rs1597589935	41	C>G		No	ClinGen Ensembl
CA397498746 rs1215033814	41	C>W		No	ClinGen gnomAD
rs1199102447 CA397498728	44	A>T		No	ClinGen TOPMed gnomAD
rs1296789594 CA397498709	46	S>W		No	ClinGen TOPMed
CA286692687 rs932924991	48	H>Q		No	ClinGen TOPMed gnomAD
rs1249025345 CA397498698	48	H>R		No	ClinGen gnomAD
rs951324603 CA286692676	49	C>R		No	ClinGen TOPMed gnomAD
rs1442867514 CA397497705	50	S>F		No	ClinGen gnomAD
CA8263346 rs771329018	53	T>S		No	ClinGen ExAC TOPMed gnomAD
CA8263343 rs371932975	54	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs778003310 CA8263344	54	R>W		No	ClinGen ExAC TOPMed gnomAD
rs748414655 CA397497618	55	I>L		No	ClinGen ExAC TOPMed gnomAD
CA397497606 rs1567795546	55	I>M		No	ClinGen Ensembl
CA8263342 rs748414655	55	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8263341 rs781535970	56	T>A		No	ClinGen ExAC
CA286691196 rs183434765	56	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs183434765 CA8263340	56	T>R		No	ClinGen 1000Genomes ExAC gnomAD
CA286691187 rs952692545	59	S>N		No	ClinGen Ensembl
CA397497556 rs1403293789	59	S>R		No	ClinGen TOPMed
CA397496832 rs1458879034	63	P>S		No	ClinGen TOPMed
CA8263327 rs770035218	64	Y>F		No	ClinGen ExAC gnomAD
CA8263326 rs770035218	64	Y>S		No	ClinGen ExAC gnomAD
TCGA novel	65	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1375189067 CA397496799	65	D>Y		No	ClinGen TOPMed
rs1405710257 CA397496781	66	G>E		No	ClinGen TOPMed gnomAD
rs1226752866 CA397496764	67	K>R		No	ClinGen TOPMed
rs1161273385 CA397496735	68	W>*		No	ClinGen gnomAD
CA397496748 rs1289256244	68	W>*		No	ClinGen TOPMed
TCGA novel	70	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397496688 rs1457283959	71	T>S		No	ClinGen gnomAD
rs768759871 CA8263323	72	M>T		No	ClinGen ExAC gnomAD
CA8263324 rs371359904	72	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs747191303 CA8263322	74	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1261981186 CA397496624	75	F>C		No	ClinGen gnomAD
CA397496611 rs1199189779	76	G>E		No	ClinGen gnomAD
CA286689419 rs761704810	76	G>R		No	ClinGen Ensembl
rs1233167394 CA397496604	77	P>A		No	ClinGen TOPMed
CA397496594 rs1292419903	77	P>R		No	ClinGen gnomAD
rs745834587 CA8263319	83	V>L		No	ClinGen ExAC gnomAD
CA8263317 rs756805516	84	A>T	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA397496475 rs1412452166	84	A>V		No	ClinGen TOPMed
CA397496438 rs1167769087	87	T>I		No	ClinGen TOPMed
rs1475798596 CA397496445	87	T>P		No	ClinGen TOPMed
CA775227111 rs1332299234	88	Y>*		No	ClinGen TOPMed
CA8263316 CA286689383 rs753328981	88	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs141115825 CA8263315	89	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1283630751 CA775227091	90	Y>*		No	ClinGen TOPMed
CA8263314 rs114535491	90	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs115297676 CA8263310	92	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8263311 rs140149712	92	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8263312 rs140149712	92	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs776319223 CA286689358	93	G>A		No	ClinGen Ensembl
rs1422223235 CA397496360	93	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs143088969 CA397496316	95	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1035174176 CA286689351	95	Y>C		No	ClinGen gnomAD
CA8263306 rs768728303	99	N>S		No	ClinGen ExAC gnomAD
CA286689289 rs905340262	101	F>C		No	ClinGen TOPMed
CA8263275 rs747682880	105	T>M		No	ClinGen ExAC TOPMed
CA397495142 rs771117299	107	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8263272 rs771117299	107	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1407850625 CA397495126	108	S>C		No	ClinGen gnomAD
CA8263271 rs779446417	109	S>G		No	ClinGen ExAC gnomAD
CA8263270 rs754346225	110	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA8263269 rs754346225	110	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA397495109 rs754346225	110	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA8263268 rs764637083	111	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1488707156 CA397495080	113	S>G		No	ClinGen gnomAD
rs752814764 CA8263266	115	A>T		No	ClinGen ExAC TOPMed gnomAD
rs774506220 CA8263263	119	E>D		No	ClinGen ExAC
CA8263264 rs138466937	119	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397495030 rs1376929215	120	W>*		No	ClinGen gnomAD
rs1292068011 CA397495027	120	W>C		No	ClinGen gnomAD
CA397495033 rs1597586193	120	W>R		No	ClinGen Ensembl
TCGA novel	123	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397495011 rs2295476	123	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs2295476 CA8263262	123	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397495010 rs2295476	123	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8263260 rs773083275	124	E>K		No	ClinGen ExAC gnomAD
rs368535297 CA8263259	126	A>G		No	ClinGen ESP ExAC gnomAD
rs747970458 CA8263258	127	E>D		No	ClinGen ExAC gnomAD
rs1376176132 CA397494981	128	G>D		No	ClinGen TOPMed
CA397494973 rs1597586142	129	V>G		No	ClinGen Ensembl
rs1435225753 CA397494963	131	E>Q		No	ClinGen TOPMed
CA397494959 rs1165965476	131	E>V		No	ClinGen TOPMed gnomAD
CA397494951 rs1407511880	132	T>I		No	ClinGen gnomAD
rs768237197 COSM983641 CA8263256	133	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8263255 rs147622792	134	A>V		No	ClinGen ESP ExAC gnomAD
rs779824839 CA8263254	135	P>L		No	ClinGen ExAC TOPMed gnomAD
rs757607791 CA8263253	136	G>E		No	ClinGen ExAC gnomAD
rs375635480 CA8263252	137	G>R		No	ClinGen ESP ExAC gnomAD
rs1272538058 CA397494917	138	Y>*		No	ClinGen TOPMed gnomAD
TCGA novel	138	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1319836718 CA397494920	138	Y>S		No	ClinGen gnomAD
rs139627395 CA397494911	139	K>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139627395 CA8263251	139	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753144521 CA8263249	140	F>L		No	ClinGen ExAC gnomAD
CA8263250 rs560039548	140	F>V		No	ClinGen 1000Genomes ExAC gnomAD
rs912375989 CA286688093	141	Y>H		No	ClinGen gnomAD
rs547985715 CA8263248	142	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1294427590 CA397494883	143	Q>H		No	ClinGen gnomAD
CA397494877 rs1439122530	144	N>S		No	ClinGen gnomAD
rs529543488 CA8263247	145	R>C	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1192473653 CA397494867	146	S>G		No	ClinGen gnomAD
rs560934260 CA8263246	147	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766612407 CA8263245	148	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1425810023 CA397494849	149	Q>*		No	ClinGen gnomAD
rs1168470061 CA397494845	149	Q>H		No	ClinGen gnomAD
CA397494838 rs1428077383	150	S>L		No	ClinGen TOPMed gnomAD
TCGA novel	151	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1241349619 CA397494051	152	P>L		No	ClinGen gnomAD
rs146979961 CA8263214	153	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8263213 rs146979961	153	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA286683839 rs760083083	157	T>I		No	ClinGen Ensembl
TCGA novel	158	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397494010 rs1567792340	159	A>V		No	ClinGen Ensembl
rs748293591 CA286683813	162	D>N		No	ClinGen Ensembl
CA286683808 rs981132094	164	Q>R		No	ClinGen TOPMed
rs780206565 CA8263208	168	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1375083906 CA397493943	169	Y>S		No	ClinGen gnomAD
CA397493921 rs1159011224	170	W>C		No	ClinGen TOPMed gnomAD
TCGA novel	173	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8263206 rs750700801	175	G>A		No	ClinGen ExAC TOPMed gnomAD
rs750700801 CA8263207	175	G>E		No	ClinGen ExAC TOPMed gnomAD
rs906845438 CA286683767	176	M>I		No	ClinGen Ensembl
CA8263205 rs765359040	176	M>K		No	ClinGen ExAC TOPMed gnomAD
CA8263204 rs757179885	178	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8263203 rs199536427	180	E>V		No	ClinGen 1000Genomes ExAC gnomAD
rs200510924 CA8263201	182	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200510924 CA8263200	182	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8263199 rs141456440	184	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1485109422 CA397493753	184	E>K		No	ClinGen gnomAD
rs1217762889 CA397493722	186	Q>*		No	ClinGen gnomAD
rs1217762889 CA397493725	186	Q>E		No	ClinGen gnomAD
rs1353345898 CA397493718	186	Q>P		No	ClinGen gnomAD
CA397493648 rs1314867116	191	G>D		No	ClinGen gnomAD
rs1567792235 CA397493650	191	G>S		No	ClinGen Ensembl
CA8263194 rs770567916	192	Y>C		No	ClinGen ExAC gnomAD
CA8263193 rs151215297	193	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA397493609 rs1187257126	194	D>A		No	ClinGen TOPMed
CA8263192 rs776996352	195	N>T		No	ClinGen ExAC TOPMed gnomAD
rs190028481 CA8263190	196	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs190028481 CA8263191	196	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749550027 CA8263167	197	C>R		No	ClinGen ExAC TOPMed gnomAD
CA397493496 rs1192884258	197	C>Y		No	ClinGen gnomAD
rs1445569418 CA397493458	200	E>D		No	ClinGen TOPMed
CA8263166 rs142803071	201	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1468430636 CA397493431	203	G>D		No	ClinGen gnomAD
TCGA novel	203	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8263163 rs115670184	204	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1216421912 CA397493425	205	K>Q		No	ClinGen gnomAD
CA397493422 rs1337668123	205	K>R		No	ClinGen gnomAD
CA397493417 rs1269868050	206	G>S		No	ClinGen gnomAD
CA397493408 rs1233693097	207	G>E		No	ClinGen TOPMed gnomAD
CA397493403 rs1317839535	208	V>M		No	ClinGen TOPMed
CA8263159 rs751467764	211	A>T		No	ClinGen ExAC gnomAD
CA8263158 rs376272824	211	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA286682805 rs113698586	212	A>V		No	ClinGen Ensembl
rs769097307 CA8263156	215	G>R		No	ClinGen TOPMed gnomAD
CA397493350 rs1395316845 COSM1385356	216	R>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA286682797 rs878965532	220	S>C		No	ClinGen Ensembl
rs977763463 CA286682783	221	C>*		No	ClinGen Ensembl
CA397493312 rs1476340182	222	P>S		No	ClinGen TOPMed
CA397493308 rs148496651	223	Q>*		No	ClinGen ESP gnomAD
rs148496651 CA286682767	223	Q>E		No	ClinGen ESP gnomAD
rs750127179 CA397493287	225	E>D		No	ClinGen ExAC gnomAD
CA286682372 rs946621897	227	P>L		No	ClinGen TOPMed gnomAD
rs750920820 CA8263103	227	P>S		No	ClinGen ExAC gnomAD
rs1444997043 CA397493261	228	D>H		No	ClinGen TOPMed
rs145702773 CA8263100	230	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370605102 CA8263101	230	E>Q		No	ClinGen ESP ExAC gnomAD
CA397493228 rs760823386	232	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1241371029 CA397493221	233	M>I		No	ClinGen TOPMed
rs775281534 CA8263097	233	M>V		No	ClinGen ExAC gnomAD
rs1597581282 CA397493212	234	K>N		No	ClinGen Ensembl
CA8263096 rs771800790	235	R>T		No	ClinGen ExAC gnomAD
TCGA novel	240	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397493170 rs1355673752	240	I>V		No	ClinGen TOPMed
rs1253517472 CA397493155	242	T>I		No	ClinGen TOPMed
CA397493150 rs1176536310	243	P>L		No	ClinGen TOPMed
CA286682277 rs932072660	243	P>S		No	ClinGen TOPMed
rs770394682 CA8263094	244	L>V		No	ClinGen ExAC gnomAD
CA397493123 rs116072465	248	D>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs116072465 CA8263091	248	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8263089 rs752349761	250	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8263090 rs752349761	250	P>R		No	ClinGen ExAC TOPMed gnomAD
CA397493111 rs1293083470	250	P>S		No	ClinGen gnomAD
CA397493107 rs1332114922	251	G>R		No	ClinGen TOPMed gnomAD
rs758806415 CA8263087	255	V>L		No	ClinGen ExAC gnomAD
CA286682225 rs199729596	256	Q>*		No	ClinGen Ensembl
CA8263086 rs751018018	256	Q>H		No	ClinGen ExAC gnomAD
CA286682210 rs977124484	258	V>A		No	ClinGen Ensembl
CA397493040 rs1428152277	262	D>G		No	ClinGen TOPMed gnomAD
CA8263082 rs764027687	262	D>N		No	ClinGen ExAC gnomAD
rs1428152277 CA397493039	262	D>V		No	ClinGen TOPMed gnomAD
rs760905206 CA397493036	263	P>A		No	ClinGen ExAC TOPMed gnomAD
rs775647255 CA8263080	263	P>R		No	ClinGen ExAC
CA8263081 rs760905206	263	P>T		No	ClinGen ExAC TOPMed gnomAD
CA8263060 rs139770786	264	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs754254427 CA8263062	264	D>H		No	ClinGen ExAC gnomAD
rs1485781475 CA397493013	265	G>R		No	ClinGen gnomAD
rs1240077165 CA397493004	266	H>L		No	ClinGen TOPMed gnomAD
CA397493005 rs1240077165	266	H>R		No	ClinGen TOPMed gnomAD
TCGA novel	267	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355661329 CA397492969	271	V>I		No	ClinGen TOPMed
rs1280077938 CA397492963	272	G>R		No	ClinGen TOPMed gnomAD
rs115211226 CA8263056	273	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397492930 rs1304937462	276	F>C		No	ClinGen gnomAD
rs184466050 CA8263054	277	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs114814106 CA8263053	277	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8263052 rs769479560	279	L>R		No	ClinGen ExAC gnomAD
rs999212353 CA286681996	280	S>C		No	ClinGen TOPMed
CA286682001 rs999212353	280	S>F		No	ClinGen TOPMed
CA286682017 rs960455532	280	S>T		No	ClinGen TOPMed
CA8263050 rs776496105	281	K>N		No	ClinGen ExAC gnomAD
CA286681974 VAR_031128 rs17851349	282	M>I		No	ClinGen UniProt Ensembl dbSNP
CA8263049 rs746588800	283	D>H		No	ClinGen ExAC gnomAD
CA8263048 rs746588800	283	D>Y		No	ClinGen ExAC gnomAD
CA397492843 rs1308055160	284	P>L		No	ClinGen TOPMed
CA397492832 CA397492830 rs757518800	285	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1567791314 CA397492836	285	E>G		No	ClinGen Ensembl
rs542245318 CA8263047	285	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA8263045 rs749838246	287	S>G		No	ClinGen ExAC gnomAD
rs778227509 CA8263044	288	K>*		No	ClinGen ExAC gnomAD
CA397492787 rs1485224723	289	L>W		No	ClinGen TOPMed
rs1194345302 CA397492077	293	A>P		No	ClinGen TOPMed gnomAD
rs749600575 CA8263027	293	A>V		No	ClinGen ExAC gnomAD
CA397492069 rs200190271 CA286667516	294	M>I		No	ClinGen 1000Genomes gnomAD
CA397492070 rs770288179	294	M>K		No	ClinGen ExAC gnomAD
CA8263025 rs770288179	294	M>T		No	ClinGen ExAC gnomAD
CA8263026 rs367979387	294	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA397492064 rs1211953684	295	A>G		No	ClinGen gnomAD
CA8263024 rs77166377	295	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397492067 rs77166377	295	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8263023 rs75027378	296	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1382950255 CA397492060	296	A>S		No	ClinGen TOPMed
rs780127372 CA8263020	297	D>G		No	ClinGen ExAC gnomAD
rs751857074 CA8263021	297	D>N		No	ClinGen ExAC
CA397492050 rs957455719	298	K>*		No	ClinGen gnomAD
rs957455719 CA286667474	298	K>E		No	ClinGen gnomAD
rs1393530325 CA397492041	299	S>N		No	ClinGen TOPMed
rs1390230069 CA397492032	300	D>G		No	ClinGen TOPMed
CA397492028 rs1396620954	301	E>K		No	ClinGen TOPMed gnomAD
CA397492002 rs1597571927	304	A>T		No	ClinGen Ensembl
CA8263017 rs367623782	304	A>V		No	ClinGen ESP ExAC gnomAD
CA8263016 rs761867438	307	N>S		No	ClinGen ExAC gnomAD
rs1597571909 CA397491969	308	K>N		No	ClinGen Ensembl
CA397491960 rs1169231565	310	K>E		No	ClinGen gnomAD
rs763696517 CA8263014	311	A>D		No	ClinGen ExAC gnomAD
CA397491953 rs1313218717	311	A>T		No	ClinGen TOPMed

No associated diseases with Q9HC38

3 regional properties for Q9HC38

Type	Name	Position	InterPro Accession
domain	Vicinal oxygen chelate (VOC) domain	5 - 145	IPR037523-1
domain	Vicinal oxygen chelate (VOC) domain	152 - 273	IPR037523-2
domain	Glyoxalase domain-containing protein 4, C-terminal	155 - 270	IPR043194

Functions

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

2 GO annotations of cellular component

Name	Definition
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
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.

1 GO annotations of molecular function

Name	Definition
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q09253	glod-4	Glyoxalase 1	Caenorhabditis elegans	PR

10	20	30	40	50	60
MAARRALHFV	FKVGNRFQTA	RFYRDVLGMK	VESCSVARLE	CSGAISAHCS	DYTRITEDSF
70	80	90	100	110	120
SKPYDGKWSK	TMVGFGPEDD	HFVAELTYNY	GVGDYKLGND	FMGITLASSQ	AVSNARKLEW
130	140	150	160	170	180
PLTEVAEGVF	ETEAPGGYKF	YLQNRSLPQS	DPVLKVTLAV	SDLQKSLNYW	CNLLGMKIYE
190	200	210	220	230	240
KDEEKQRALL	GYADNQCKLE	LQGVKGGVDH	AAAFGRIAFS	CPQKELPDLE	DLMKRENQKI
250	260	270	280	290	300
LTPLVSLDTP	GKATVQVVIL	ADPDGHEICF	VGDEAFRELS	KMDPEGSKLL	DDAMAADKSD
310
EWFAKHNKPK	ASG