AiPD: Autoinhibited Protein Database

P55789

Gene name	GFER (ALR, HERV1, HPO)
Protein name	FAD-linked sulfhydryl oxidase ALR
Names	Augmenter of liver regeneration, hERV1, Hepatopoietin
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2671
EC number	1.8.3.2: With oxygen as acceptor
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

8-122 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

8-122 (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 P55789

Entry ID	Method	Resolution	Chain	Position	Source
3MBG	X-ray	185 A	A/B/C	81-205	PDB
3O55	X-ray	190 A	A	81-205	PDB
3TK0	X-ray	161 A	A	81-205	PDB
3U2L	X-ray	195 A	A	91-205	PDB
3U2M	X-ray	200 A	A	91-205	PDB
3U5S	X-ray	150 A	A	82-203	PDB
4LDK	X-ray	204 A	A	81-205	PDB
AF-P55789-F1	Predicted				AlphaFoldDB

227 variants for P55789

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000676336 CA322387 RCV002517217 rs375792737	63	E>D	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000508880 rs863224028 RCV000200750 RCV001270124	67	R>missing	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Mitochondrial disease [ClinVar]	Yes	ClinVar dbSNP
RCV000679993 RCV000676337 rs1555486560	73	A>missing	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1597063051 RCV000824904	74	C>missing	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001355569 RCV001195755 CA394302768 rs1490540568	94	D>N	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs771809901 RCV000199819 CA324368 RCV001254645	125	Q>*	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002550679 CA7826030 RCV000995468 rs763545328	141	P>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7826092 RCV000622535 rs373135339	189	S>*	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000199876 rs121908192 CA119839 VAR_063435 RCV000624237 RCV000009228	194	R>H	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Inborn genetic diseases MPMCD; less stable than the wild-type protein within the mitochondria, increased rate of dissociation of FAD by about 45-fold [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs370475970 CA7826097 RCV000508691 RCV000709773	196	R>C	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Mitochondrial disease [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs147568500 RCV002517218 RCV000196297 CA320714	198	G>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1288959387 CA394299920	2	A>V		No	ClinGen gnomAD
CA7825962 rs774614929	4	P>S		No	ClinGen ExAC gnomAD
RCV002515403 RCV000199610 CA324151 rs863224025	5	G>A		No	ClinGen ClinVar TOPMed dbSNP
CA276772872 rs1010125617	6	E>D		No	ClinGen TOPMed
CA394300002 rs1192206034	7	R>W		No	ClinGen TOPMed
RCV000487913 rs1064797204	9	R>missing		No	ClinVar dbSNP
rs965662755 CA394300032	9	R>C		No	ClinGen TOPMed gnomAD
CA276772878 rs965662755	9	R>G		No	ClinGen TOPMed gnomAD
CA394300081 rs1382599825	11	H>Y		No	ClinGen gnomAD
CA394300106 rs1163584841	12	G>A		No	ClinGen gnomAD
rs1440828796 CA394300104	12	G>R		No	ClinGen TOPMed gnomAD
rs1440828796 CA394300103	12	G>S		No	ClinGen TOPMed gnomAD
rs1054493594 CA276772884	14	N>K		No	ClinGen TOPMed gnomAD
CA394300150 rs1256055497	14	N>S		No	ClinGen TOPMed gnomAD
CA394300157 rs1256055497	14	N>T		No	ClinGen TOPMed gnomAD
rs1396004776 CA394300243	18	L>R		No	ClinGen gnomAD
rs1276194720 CA394300276	19	P>L		No	ClinGen TOPMed
rs893122483 CA276772896	19	P>S		No	ClinGen TOPMed gnomAD
CA394300293 rs1472331160	20	G>E		No	ClinGen TOPMed gnomAD
rs1042664976 CA276772900	20	G>R		No	ClinGen TOPMed
TCGA novel	21	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773199934 CA7825965	21	G>D		No	ClinGen ExAC gnomAD
rs773199934 CA394300317	21	G>V		No	ClinGen ExAC gnomAD
rs1322950310 CA394300352	22	A>V		No	ClinGen TOPMed gnomAD
CA394300364 rs1408657594	23	R>C		No	ClinGen TOPMed gnomAD
rs1470666851 CA394300382	24	S>P		No	ClinGen TOPMed
rs902431596 CA276772919	25	E>D		No	ClinGen Ensembl
rs1597062830 CA394300400	25	E>K		No	ClinGen Ensembl
CA394300456 rs1169105325	26	M>V		No	ClinGen TOPMed
CA276772924 rs1003355020	27	M>T		No	ClinGen gnomAD
CA394300584 rs1200200618	31	A>T		No	ClinGen gnomAD
rs972973281 CA276772928	33	D>G		No	ClinGen TOPMed
rs1240408467 CA394300640	33	D>N		No	ClinGen gnomAD
rs1183454721 CA394300678	34	A>G		No	ClinGen TOPMed gnomAD
rs1183454721 CA394300680	34	A>V		No	ClinGen TOPMed gnomAD
CA394300691 rs1401238152	35	R>Q		No	ClinGen TOPMed gnomAD
CA394300688 rs1426118626	35	R>W		No	ClinGen gnomAD
CA394300700 rs1204596051	36	G>S		No	ClinGen TOPMed
rs1567334807 CA394300720	37	R>L		No	ClinGen Ensembl
rs1165547554 CA394300728	38	G>S		No	ClinGen gnomAD
rs753639816 CA7825968	39	A>V		No	ClinGen ExAC TOPMed gnomAD
CA394300791 rs1333625525	41	R>L		No	ClinGen TOPMed gnomAD
rs1333625525 CA394300775	41	R>Q		No	ClinGen TOPMed gnomAD
rs1308006803 CA394300792	42	R>G		No	ClinGen TOPMed
CA276772938 rs1016725284 CA394300844	43	D>E		No	ClinGen TOPMed gnomAD
rs950089553 CA276772936	43	D>Y		No	ClinGen TOPMed gnomAD
CA394300859 rs1227290820	44	A>S		No	ClinGen TOPMed gnomAD
rs1227290820 CA394300850	44	A>T		No	ClinGen TOPMed gnomAD
CA394300867 rs1334563929	44	A>V		No	ClinGen gnomAD
CA394300886 rs1461870557	45	A>G		No	ClinGen TOPMed
CA276772943 rs962686909	45	A>T		No	ClinGen TOPMed gnomAD
CA394300894 rs1355612442	46	A>P		No	ClinGen TOPMed
rs1173252857 CA394300922	46	A>V		No	ClinGen TOPMed
CA394300941 rs1228865801	48	A>S		No	ClinGen gnomAD
rs972426940 CA276772949	48	A>V		No	ClinGen TOPMed
CA276772959 rs891592950	49	S>W		No	ClinGen TOPMed gnomAD
CA394300993 rs1220019209	50	T>K		No	ClinGen gnomAD
CA276772964 rs918808957	52	A>P		No	ClinGen Ensembl
CA394301010 rs918808957	52	A>T		No	ClinGen Ensembl
CA7825970 rs765134997	53	Q>E		No	ClinGen ExAC gnomAD
CA7825971 rs752327413	53	Q>H		No	ClinGen ExAC gnomAD
rs1203465276 CA394301044	53	Q>R		No	ClinGen gnomAD
rs1597062971 CA394301058	54	A>T		No	ClinGen Ensembl
CA394301151 rs1183022825	57	S>C		No	ClinGen gnomAD
CA394301172 rs1173038923	58	D>G		No	ClinGen gnomAD
CA394301164 rs1476892322	58	D>H		No	ClinGen gnomAD
rs1010571528 CA276772975	59	S>Y		No	ClinGen TOPMed gnomAD
CA394301220 rs1223766741	60	P>S		No	ClinGen TOPMed gnomAD
CA394301247 rs1597063010	61	V>L		No	ClinGen Ensembl
rs112534956 CA276772987	64	D>E		No	ClinGen Ensembl
rs1360738973 CA394301292	64	D>N		No	ClinGen gnomAD
rs901752142 CA276772990	65	A>T		No	ClinGen TOPMed gnomAD
rs1401328877 CA394301383	67	R>Q		No	ClinGen TOPMed gnomAD
rs1359181279 CA394301380	67	R>W		No	ClinGen TOPMed gnomAD
CA276773000 rs1028643548	68	R>T		No	ClinGen TOPMed
rs1456862514 CA394301425	69	R>L		No	ClinGen TOPMed
CA7825975 rs780490309	70	P>R		No	ClinGen ExAC TOPMed gnomAD
rs749652504 CA7825976	72	R>G		No	ClinGen ExAC TOPMed gnomAD
CA394301487 rs1180176254	72	R>Q		No	ClinGen gnomAD
CA7825978 rs779254345	73	A>S		No	ClinGen ExAC TOPMed gnomAD
CA394301527 rs1419715542	74	C>S		No	ClinGen TOPMed
CA7825979 rs748329975	75	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1175661875 CA394301568	76	D>Y		No	ClinGen TOPMed gnomAD
CA276773010 rs866480610	77	F>L		No	ClinGen Ensembl
CA7825981 rs773323504	79	T>K		No	ClinGen ExAC TOPMed gnomAD
rs1376805565 CA394301673	81	M>I		No	ClinGen gnomAD
rs863224027 CA322695 RCV000198190	82	R>Q		No	ClinGen ClinVar dbSNP gnomAD
rs201675904 CA7825982	82	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1189758959 CA394301714	83	T>M		No	ClinGen gnomAD
CA394301718 rs1189758959	83	T>R		No	ClinGen gnomAD
CA394301761 rs1426919551	85	Q>*		No	ClinGen gnomAD
CA394301758 rs1426919551	85	Q>E		No	ClinGen gnomAD
rs1409002625 CA394302041	87	R>P		No	ClinGen gnomAD
CA394302048 rs1567335096	88	D>H		No	ClinGen Ensembl
rs1398481343 CA394302095	89	T>I		No	ClinGen TOPMed gnomAD
rs1398481343 CA394302093	89	T>S		No	ClinGen TOPMed gnomAD
rs863224024 RCV000195835 CA320213	90	K>N		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs199651600 RCV000125221 RCV002514672 CA291055	90	K>R		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA394302755 rs1340360725	92	R>S		No	ClinGen gnomAD
rs762907502 CA7826005	93	E>K		No	ClinGen ExAC TOPMed gnomAD
rs762907502 CA394302757	93	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA276773092 rs895073717	95	C>R		No	ClinGen Ensembl
rs1214146877 CA394302791	96	P>S		No	ClinGen gnomAD
rs761533080 CA7826008	98	D>H		No	ClinGen ExAC gnomAD
CA394302818 rs1242356007	99	R>H		No	ClinGen gnomAD
rs1006300352 CA276773095	100	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs749958872 CA394302861	104	R>C		No	ClinGen ExAC gnomAD
rs760018110 CA7826011	104	R>H		No	ClinGen ExAC gnomAD
CA7826012 rs760018110	104	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749958872 CA7826010	104	R>S		No	ClinGen ExAC gnomAD
CA276773101 rs962089141	105	H>Q		No	ClinGen TOPMed
rs1272884614 CA394302868	105	H>Y		No	ClinGen TOPMed
rs1341855876 CA394302879	106	S>C		No	ClinGen TOPMed
TCGA novel	109	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA276773102 rs947853655	110	L>P		No	ClinGen Ensembl
rs368889722 CA276773103	112	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs368889722 CA7826016	112	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7826015 rs778201726	112	T>S		No	ClinGen ExAC gnomAD
rs781395247 CA7826018	117	Y>N		No	ClinGen ExAC gnomAD
CA7826020 rs201603991	118	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA276773107 rs201603991	118	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394302997 rs1219544893	119	D>E		No	ClinGen TOPMed gnomAD
CA7826021 rs780196676	119	D>H		No	ClinGen ExAC gnomAD
CA394302998 rs1255193848	120	L>M		No	ClinGen TOPMed gnomAD
rs370700293 CA276773112	121	P>H		No	ClinGen ESP TOPMed gnomAD
CA7826023 rs768270980	121	P>S		No	ClinGen ExAC gnomAD
rs774235374 CA7826024	123	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7826025 rs774235374	123	P>R		No	ClinGen ExAC TOPMed gnomAD
CA394303029 rs1411611534	123	P>S		No	ClinGen TOPMed
CA394303063 rs1190836269	125	Q>R		No	ClinGen gnomAD
rs772682634 CA7826026	127	Q>R		No	ClinGen ExAC
rs1477936272 CA394303108	128	D>N		No	ClinGen TOPMed gnomAD
rs1172344686 CA394303131	129	M>I		No	ClinGen gnomAD
CA7826027 rs760247120	130	A>D		No	ClinGen ExAC gnomAD
CA276773117 rs980288156	130	A>T		No	ClinGen TOPMed
CA394303154 rs765722914	131	Q>H		No	ClinGen ExAC gnomAD
rs528813454 CA276773122	133	I>M		No	ClinGen 1000Genomes
CA394303181 rs1464878709	134	H>Y		No	ClinGen gnomAD
CA394303227 rs1174790105	137	S>C		No	ClinGen gnomAD
CA7826031 rs763545328	141	P>A		No	ClinGen ExAC TOPMed gnomAD
CA7826032 rs373446345	141	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA394303321 rs781628694	142	C>F		No	ClinGen ExAC gnomAD
rs781628694 CA7826034	142	C>Y		No	ClinGen ExAC gnomAD
rs750515991 CA7826035	143	E>D		No	ClinGen ExAC TOPMed gnomAD
CA7826036 rs756203483	146	A>V		No	ClinGen ExAC gnomAD
rs863224026 CA320516 RCV000196104	152	R>G		No	ClinGen ClinVar Ensembl dbSNP
CA394303470 rs1222193741	152	R>T		No	ClinGen TOPMed
rs1597063994 CA394303687	155	R>K		No	ClinGen Ensembl
rs1244997202 CA394303713	156	N>K		No	ClinGen gnomAD
CA7826070 rs760957301	161	R>C		No	ClinGen ExAC gnomAD
rs760957301 CA394303834	161	R>G		No	ClinGen ExAC gnomAD
CA7826071 rs766748062	161	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1597064007 CA394303855	162	T>A		No	ClinGen Ensembl
rs1437002371 CA394303859	162	T>N		No	ClinGen TOPMed
CA394303889 rs755147804	163	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7826073 rs755147804	163	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs753862865 CA7826072 COSM968031	163	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA394303917 rs1181856698	164	A>V		No	ClinGen gnomAD
CA7826074 RCV000676339 VAR_061994 rs36041021	166	F>L		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs36041021 CA394303957	166	F>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1165875692 CA394303976	167	T>I		No	ClinGen TOPMed gnomAD
rs201762532 RCV000995469 CA7826075	168	Q>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs201762532 CA394303986	168	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs200522227 CA276773488	171	C>G		No	ClinGen Ensembl
rs1172541426 CA394304034	171	C>Y		No	ClinGen TOPMed gnomAD
rs758350837 CA322208 RCV000197739	172	H>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA394304050 rs1597064058	172	H>P		No	ClinGen Ensembl
rs371922095 CA276773501	173	L>V		No	ClinGen ESP
rs746842124 CA7826077	174	H>D		No	ClinGen ExAC TOPMed gnomAD
rs1380639933 CA394304109	174	H>R		No	ClinGen gnomAD
CA394304133 rs1213980840	175	N>D		No	ClinGen TOPMed
CA7826079 rs780954807 COSM702531	175	N>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745520506 CA7826080	176	E>*		No	ClinGen ExAC gnomAD
CA276773510 rs200006442	176	E>D		No	ClinGen 1000Genomes
rs1268884974 CA394304168	176	E>G		No	ClinGen TOPMed
rs201959073 CA7826081	177	V>G		No	ClinGen 1000Genomes ExAC gnomAD
CA394304183 rs1220148687	177	V>M		No	ClinGen gnomAD
CA7826083 rs201112184	179	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199541169 CA7826084	179	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA394304250 rs1188721575	180	K>E		No	ClinGen gnomAD
rs200344292 CA7826086	182	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs866683967 CA276773518	182	G>S		No	ClinGen gnomAD
CA394304311 rs1419899342	183	K>E		No	ClinGen gnomAD
rs1387079177 CA394304364	184	P>L		No	ClinGen TOPMed gnomAD
RCV000198653 CA323190 rs183638147	184	P>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs776857102 CA7826087	185	D>N		No	ClinGen ExAC gnomAD
CA7826089 rs142220504	186	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA276773538 rs1028553365	187	D>N		No	ClinGen TOPMed
rs1028553365 RCV001171575	187	D>Y		No	ClinVar dbSNP
CA7826090 rs752821388	188	C>F		No	ClinGen ExAC TOPMed gnomAD
CA394304472 rs752821388	188	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA394304511 rs373135339	189	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs762842175 CA7826091	189	S>P		No	ClinGen ExAC gnomAD
rs751340896 CA7826093	190	K>T		No	ClinGen ExAC gnomAD
rs756987474 CA7826094	191	V>M		No	ClinGen ExAC TOPMed gnomAD
CA394304558 rs1363034255	192	D>G		No	ClinGen gnomAD
CA394304585 rs1218976586	193	E>D		No	ClinGen TOPMed gnomAD
CA394304567 rs1465478128	193	E>K		No	ClinGen Ensembl
CA7826095 rs780851934	194	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7826096 rs755745663	195	W>*		No	ClinGen ExAC gnomAD
CA7826098 rs201243520	196	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs28738719 CA7826102	197	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140398555 CA7826100	197	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA394304668 rs1427072801	198	G>A		No	ClinGen gnomAD
rs147568500 CA394304663	198	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394304694 rs1454651553	199	W>*		No	ClinGen gnomAD
CA7826103 rs759777543	199	W>*		No	ClinGen ExAC gnomAD
rs764171720 CA7826107	201	D>A		No	ClinGen ExAC gnomAD
rs142042300 CA7826106	201	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7826105 rs142042300	201	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7826108 rs751428853	202	G>S		No	ClinGen ExAC gnomAD
CA7826109 rs761687015	203	S>C		No	ClinGen ExAC gnomAD
rs767293111 CA7826110	204	C>R		No	ClinGen ExAC gnomAD
CA276773592 rs889082052	204	C>S		No	ClinGen TOPMed
CA276773595 rs1007556775	205	D>A		No	ClinGen TOPMed
CA7826112 rs750234939	206	D>Q		No	ClinGen ExAC TOPMed

1 associated diseases with P55789

[MIM: 613076]: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCD)

A disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay. {ECO:0000269|PubMed:19409522, ECO:0000269|PubMed:20593814}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay. {ECO:0000269|PubMed:19409522, ECO:0000269|PubMed:20593814}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for P55789

Type	Name	Position	InterPro Accession
domain	ERV/ALR sulfhydryl oxidase domain	95 - 196	IPR017905

Functions

		Description
EC Number	1.8.3.2	With oxygen as acceptor
Subcellular Localization	[Isoform 1]: Mitochondrion intermembrane space Mitochondrion ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 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.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
mitochondrial intermembrane space	The region between the inner and outer lipid bilayers of the mitochondrial envelope.
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.

4 GO annotations of molecular function

Name	Definition
flavin adenine dinucleotide binding	Binding to FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes, in either the oxidized form, FAD, or the reduced form, FADH2.
flavin-linked sulfhydryl oxidase activity	Catalysis of the formation of disulfide bridges in proteins using FAD as the electron acceptor.
growth factor activity	The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation.
protein-disulfide reductase activity	Catalysis of the reaction: a protein with reduced sulfide groups = a protein with oxidized disulfide bonds.

10 GO annotations of biological process

Name	Definition
cellular response to actinomycin D	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an actinomycin D stimulus.
cellular response to lipopolysaccharide	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
cellular response to toxic substance	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus.
cellular response to tumor necrosis factor	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus.
liver development	The process whose specific outcome is the progression of the liver over time, from its formation to the mature structure. The liver is an exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes.
liver regeneration	The regrowth of lost or destroyed liver.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of natural killer cell mediated cytotoxicity	Any process that stops, prevents, or reduces the rate of natural killer mediated cytotoxicity.
negative regulation of oxidative stress-induced neuron death	Any process that stops, prevents or reduces the frequency, rate or extent of oxidative stress-induced neuron death.
positive regulation of DNA biosynthetic process	Any process that activates or increases the frequency, rate or extent of DNA biosynthetic process.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q12284	ERV2	FAD-linked sulfhydryl oxidase ERV2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P56213	Gfer	FAD-linked sulfhydryl oxidase ALR	Mus musculus (Mouse)	PR
Q63042	Gfer	FAD-linked sulfhydryl oxidase ALR	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAAPGERGRF	HGGNLFFLPG	GARSEMMDDL	ATDARGRGAG	RRDAAASAST	PAQAPTSDSP
70	80	90	100	110	120
VAEDASRRRP	CRACVDFKTW	MRTQQKRDTK	FREDCPPDRE	ELGRHSWAVL	HTLAAYYPDL
130	140	150	160	170	180
PTPEQQQDMA	QFIHLFSKFY	PCEECAEDLR	KRLCRNHPDT	RTRACFTQWL	CHLHNEVNRK
190	200
LGKPDFDCSK	VDERWRDGWK	DGSCD