AiPD: Autoinhibited Protein Database

Q8N565

Gene name	MREG (DSU, HDCGA21P)
Protein name	Melanoregulin
Names	Dilute suppressor protein homolog
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55686
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-89 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-89 (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 Q8N565

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N565-F1	Predicted				AlphaFoldDB

172 variants for Q8N565

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA65557083 rs373634278	4	R>M		No	ClinGen Ensembl
CA65557082 rs916053035	5	D>N		No	ClinGen TOPMed gnomAD
rs764405270 CA2095920	6	W>C		No	ClinGen ExAC
rs1486285263 CA350467039	6	W>G		No	ClinGen gnomAD
rs1018213764 CA65557081	11	C>R		No	ClinGen gnomAD
rs1482619983 CA350466852	12	C>Y		No	ClinGen gnomAD
CA350466810 rs1326886975	13	C>*		No	ClinGen gnomAD
CA350466813 rs1210190458	13	C>F		No	ClinGen gnomAD
rs759925431 CA2095916	15	G>E		No	ClinGen ExAC TOPMed gnomAD
CA2095917 VAR_053923 rs1864253	15	G>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA350466781 rs759925431	15	G>V		No	ClinGen ExAC TOPMed gnomAD
CA350466787 rs1864253	15	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777149637 CA2095915	16	C>*		No	ClinGen ExAC TOPMed gnomAD
CA65557080 rs535738023	16	C>F		No	ClinGen 1000Genomes gnomAD
rs1574655889 CA350466779	16	C>G		No	ClinGen Ensembl
CA350466770 rs535738023	16	C>Y		No	ClinGen 1000Genomes gnomAD
rs1401555295 CA350466754	17	E>D		No	ClinGen TOPMed gnomAD
CA2095914 rs766920248	20	E>K		No	ClinGen ExAC gnomAD
rs766920248 CA350466691	20	E>Q		No	ClinGen ExAC gnomAD
rs1386644241 CA350466627	22	R>S		No	ClinGen TOPMed gnomAD
rs1391358753 CA350466589	24	L>P		No	ClinGen TOPMed
rs1327406572 CA350466574	25	P>L		No	ClinGen TOPMed
rs1422782581 CA350466470	29	P>H		No	ClinGen gnomAD
rs568336631 CA65557079	29	P>S		No	ClinGen 1000Genomes gnomAD
CA350466484 rs568336631	29	P>T		No	ClinGen 1000Genomes gnomAD
CA2095912 rs773634849	31	V>L		No	ClinGen ExAC gnomAD
TCGA novel	33	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2095887 rs775194736	34	N>K		No	ClinGen ExAC gnomAD
rs367757909 CA2095889	34	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs867432405 CA65640125	36	P>L		No	ClinGen Ensembl
rs769794023 CA2095886	36	P>S		No	ClinGen ExAC gnomAD
rs200466592 CA2095885	38	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350797392 rs1386508130	38	S>P		No	ClinGen gnomAD
CA350797355 rs1256543404	44	L>V		No	ClinGen TOPMed
CA2095883 rs780813100	45	V>M		No	ClinGen ExAC gnomAD
rs780383036 CA65640100	46	R>K		No	ClinGen TOPMed
CA350797344 rs780383036	46	R>T		No	ClinGen TOPMed
TCGA novel	49	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA65640067 rs370680220	49	E>G		No	ClinGen ESP TOPMed gnomAD
CA350797324 rs1179614819	49	E>K		No	ClinGen TOPMed
rs1244558669 CA350797313	50	K>M		No	ClinGen gnomAD
TCGA novel	50	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1030909937 CA65640050	52	L>V		No	ClinGen TOPMed
CA350797289 rs1197932146	53	W>*		No	ClinGen gnomAD
CA65640032 rs1008758634	55	M>T		No	ClinGen TOPMed gnomAD
rs776657074 CA65640039	55	M>V		No	ClinGen Ensembl
CA2095881 rs368256699	56	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1253937585 CA350797261	57	H>L		No	ClinGen gnomAD
rs1253937585 CA350797263	57	H>P		No	ClinGen gnomAD
CA2095876 rs756572723	61	H>R		No	ClinGen ExAC gnomAD
rs780110153 CA2095877	61	H>Y		No	ClinGen ExAC gnomAD
CA2095875 rs750962379	62	T>A		No	ClinGen ExAC TOPMed gnomAD
CA350797222 rs1364250480	63	E>V		No	ClinGen TOPMed
rs1310443384 CA350797216	64	A>V		No	ClinGen gnomAD
CA2095873 rs201988343	65	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2095871 rs757448435 COSM1016205	66	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1415632517 CA350797197	67	D>N		No	ClinGen gnomAD
CA2095868 rs373470737	70	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370069855 CA2095866	71	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1472227889 CA350797166	72	N>D		No	ClinGen gnomAD
CA65639885 rs908825412	74	I>V		No	ClinGen TOPMed
rs777489037 CA2095863	75	V>A		No	ClinGen ExAC
rs1459399938 CA350797146	75	V>I		No	ClinGen gnomAD
rs1260630968 CA350797140	76	I>V		No	ClinGen TOPMed
COSM3938907 CA2095862 rs141433096	77	R>C	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2095861 rs572090838	77	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751896853 CA65639840	80	Q>H		No	ClinGen gnomAD
rs375708280 CA2095860	82	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs764372180 CA2095859	83	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2095858 rs745975033	84	S>*		No	ClinGen ExAC
rs1318075936 CA350796609	88	Q>*		No	ClinGen gnomAD
CA2095836 rs778237184	89	K>E		No	ClinGen ExAC gnomAD
rs202048457 CA65611818	90	L>I		No	ClinGen 1000Genomes
TCGA novel	90	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1350233230 CA350796586	91	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2095835 rs758816855	92	Y>C		No	ClinGen ExAC gnomAD
CA350796565 rs373723376	94	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA2095833 rs373723376	94	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs753332220 CA2095831	98	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs754645071 CA2095832	98	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1186886551 CA350796535	99	Q>H		No	ClinGen gnomAD
CA65611800 rs569939283	99	Q>R		No	ClinGen TOPMed
rs1485778395 CA350796527	100	V>G		No	ClinGen gnomAD
rs1412682797 CA350796531	100	V>I		No	ClinGen TOPMed
rs760611063 CA2095829	101	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2095828 rs181681974	101	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs192002830 CA2095827	102	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2095826 rs192002830	102	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350796487 rs1574587982	103	E>G		No	ClinGen Ensembl
rs1343579809 CA350796481	104	V>I		No	ClinGen gnomAD
CA350796461 rs1385499942	105	R>T		No	ClinGen TOPMed
CA65611769 rs376658723	108	W>*		No	ClinGen ESP TOPMed gnomAD
rs769942139 CA2095824	109	K>Q		No	ClinGen ExAC gnomAD
rs1574587945 CA350796400	110	C>G		No	ClinGen Ensembl
CA2095822 rs568678746	111	I>T		No	ClinGen ExAC TOPMed gnomAD
rs747165032 CA2095820	115	L>*		No	ClinGen ExAC gnomAD
CA350796307 rs1430539105	116	G>S		No	ClinGen gnomAD
CA2095800 rs554250823	121	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs779383794 CA2095799	123	S>F		No	ClinGen ExAC gnomAD
CA2095796 rs779565613	124	L>F		No	ClinGen ExAC gnomAD
rs368431426 CA2095798	124	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs923488831 CA350795897	127	V>L		No	ClinGen TOPMed
rs923488831 CA65611280	127	V>M		No	ClinGen TOPMed
rs1257440440 CA350795864	132	T>A		No	ClinGen gnomAD
CA2095795 rs375394259	132	T>I		No	ClinGen ESP ExAC gnomAD
TCGA novel	133	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749877230 CA2095794	133	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2095793 rs780683542	134	S>N		No	ClinGen ExAC gnomAD
CA2095792 rs757144666	135	D>N		No	ClinGen ExAC gnomAD
CA2095791 rs751518395	139	T>K		No	ClinGen ExAC TOPMed gnomAD
CA350795811 rs1306153952	140	R>K		No	ClinGen TOPMed gnomAD
CA65611264 rs868664178	142	A>V		No	ClinGen gnomAD
CA2095790 rs764144154	143	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA350795791 rs1304874291	143	R>Q		No	ClinGen TOPMed gnomAD
rs762626563 CA2095789	144	E>K		No	ClinGen ExAC gnomAD
CA2095788 rs371062715	146	L>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1459115795 CA350795747	150	A>T		No	ClinGen gnomAD
CA65611248 rs984465189	152	E>G		No	ClinGen TOPMed
rs1465931040 CA350795722	153	T>S		No	ClinGen TOPMed
rs942499129 CA65611237	154	N>S		No	ClinGen TOPMed gnomAD
rs942499129 CA350795717	154	N>T		No	ClinGen TOPMed gnomAD
CA2095786 rs375677015	155	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs148365522 CA2095784	157	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1460607607 CA350795689	158	T>I		No	ClinGen gnomAD
rs1210393332 CA350795674	160	W>C		No	ClinGen gnomAD
TCGA novel	161	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1321205294 CA350795661	162	L>F		No	ClinGen gnomAD
rs1326778234 CA350795652	163	S>L		No	ClinGen gnomAD
CA2095781 rs572671930	164	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs774687123 CA2095782	164	E>K		No	ClinGen ExAC gnomAD
CA350795651 rs774687123	164	E>Q		No	ClinGen ExAC gnomAD
rs749598732 CA2095780	165	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2095779 rs775936253	167	L>H		No	ClinGen ExAC gnomAD
CA350795622 rs1382345085	168	F>S		No	ClinGen gnomAD
CA65611208 rs909824562	169	V>I		No	ClinGen TOPMed
CA350795590 rs1387657517	171	D>E		No	ClinGen gnomAD
CA65610931 rs958594662	171	D>G		No	ClinGen TOPMed
rs746277970 CA2095759	171	D>Y		No	ClinGen ExAC gnomAD
rs776237177 CA2095758	172	R>C		No	ClinGen ExAC TOPMed gnomAD
rs375428167 CA2095757	172	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	173	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2095756 rs746488807	174	I>N		No	ClinGen ExAC gnomAD
rs1486075523 CA350795578	174	I>V		No	ClinGen TOPMed
CA2095755 rs758206625	175	A>S		No	ClinGen ExAC gnomAD
rs758206625 CA2095754	175	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350795567 rs1170169238	176	L>F		No	ClinGen gnomAD
rs754800751 CA2095751	177	D>G		No	ClinGen ExAC TOPMed
CA2095752 rs372923066	177	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA350795548 rs1481405441	179	A>E		No	ClinGen TOPMed
CA350795541 rs1199339408	180	E>G		No	ClinGen gnomAD
CA2095749 rs202147771	182	F>L		No	ClinGen ExAC TOPMed gnomAD
CA350795500 rs1490225474	186	A>T		No	ClinGen gnomAD
rs369619944 CA2095747	187	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs764264847 CA2095746	187	R>H		No	ClinGen ExAC TOPMed gnomAD
CA350795488 rs543536857	188	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2095745 rs543536857 COSM276114	188	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA350795474 rs1269783939	190	Y>*		No	ClinGen gnomAD
CA2095744 rs776040531	191	P>S		No	ClinGen ExAC gnomAD
CA350795444 rs1410310338	195	G>R		No	ClinGen gnomAD
rs1181196758 CA350795440	195	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA350795437 rs1559171964	196	V>F		No	ClinGen Ensembl
CA2095742 rs759891263	197	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2095741 rs777039341	198	C>S		No	ClinGen ExAC gnomAD
rs1559171945 CA350795402	202	G>S		No	ClinGen Ensembl
CA2095739 rs760384284	203	Q>*		No	ClinGen ExAC gnomAD
CA2095738 rs772560609	203	Q>R		No	ClinGen ExAC gnomAD
CA2095737 rs771638000	207	H>P		No	ClinGen ExAC TOPMed gnomAD
CA350795367 rs1478917283	207	H>Y		No	ClinGen gnomAD
CA350795352 rs1198332988	209	L>F		No	ClinGen gnomAD
rs145853865 CA2095736	210	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350795334 rs1206753804	212	P>A		No	ClinGen gnomAD
rs1272627734 CA350795329	213	S>R		No	ClinGen gnomAD

No associated diseases with Q8N565

No regional properties for Q8N565

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8N565

Functions

		Description
EC Number
Subcellular Localization	Apical cell membrane ; Peripheral membrane protein Melanosome membrane ; Lipid-anchor Lysosome membrane ; Lipid-anchor Cytoplasmic vesicle membrane	Localizes to the inner segment and basal outer segment of rods in the retina
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
cytoplasmic vesicle membrane	The lipid bilayer surrounding a cytoplasmic vesicle.
intrinsic component of organelle membrane	The component of the organelle membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane.
late endosome membrane	The lipid bilayer surrounding a late endosome.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
melanosome	A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells.
melanosome membrane	The lipid bilayer surrounding a melanosome.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

1 GO annotations of molecular function

Name	Definition
phosphatidylinositol binding	Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.

5 GO annotations of biological process

Name	Definition
melanocyte differentiation	The process in which a relatively unspecialized cell acquires specialized features of a melanocyte.
melanosome localization	Any process in which a melanosome is transported to, and/or maintained in, a specific location within the cell.
melanosome transport	The directed movement of melanosomes into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
minus-end-directed organelle transport along microtubule	The directed movement of an organelle towards the minus end of a microtubule, mediated by motor proteins. This process begins with the attachment of an organelle to a microtubule, and ends when the organelle reaches its final destination.
phagosome maturation	A process that is carried out at the cellular level which results in the arrangement of constituent parts of a phagosome within a cell. Phagosome maturation begins with endocytosis and formation of the early phagosome and ends with the formation of the hybrid organelle, the phagolysosome.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6NVG5	Mreg	Melanoregulin	Mus musculus (Mouse)	PR
Q6GQM0	mreg	Melanoregulin	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MGLRDWLRTV	CCCCGCECLE	ERALPEKEPL	VSDNNPYSSF	GATLVRDDEK	NLWSMPHDVS
70	80	90	100	110	120
HTEADDDRTL	YNLIVIRNQQ	AKDSEEWQKL	NYDIHTLRQV	RREVRNRWKC	ILEDLGFQKE
130	140	150	160	170	180
ADSLLSVTKL	STISDSKNTR	KAREMLLKLA	EETNIFPTSW	ELSERYLFVV	DRLIALDAAE
190	200	210
EFFKLARRTY	PKKPGVPCLA	DGQKELHYLP	FPSP