AiPD: Autoinhibited Protein Database

Q9Y3D2

Gene name	MSRB2 (CBS-1, MSRB, CGI-131)
Protein name	Methionine-R-sulfoxide reductase B2, mitochondrial
Names	MsrB2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:22921
EC number	1.8.4.12: With a disulfide as acceptor
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-68 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-68 (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 Q9Y3D2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y3D2-F1	Predicted				AlphaFoldDB

149 variants for Q9Y3D2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1452605254 CA376261754	2	A>T		No	ClinGen gnomAD
CA376261782 rs1392670303	4	L>P		No	ClinGen TOPMed
CA376261826 rs1372164028	8	L>V		No	ClinGen TOPMed
rs1030350940 CA376261848	9	R>P		No	ClinGen TOPMed gnomAD
CA204723105 rs1030350940	9	R>Q		No	ClinGen TOPMed gnomAD
CA5438326 rs750343526	10	G>D		No	ClinGen ExAC gnomAD
CA376261888 rs1258096267	13	L>F		No	ClinGen TOPMed
rs755965887 CA5438327	15	T>I		No	ClinGen ExAC TOPMed gnomAD
rs779826374 CA5438328	17	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1484661078 CA376261925	17	P>S		No	ClinGen TOPMed
CA204723106 rs1014037816	18	R>Q		No	ClinGen TOPMed
rs1441889372 CA376261937	18	R>W		No	ClinGen TOPMed gnomAD
rs986072137 CA204723107	19	R>L		No	ClinGen gnomAD
CA376261949 rs986072137	19	R>Q		No	ClinGen gnomAD
rs538025424 CA5438329	20	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA204723109 rs986445754	21	V>G		No	ClinGen Ensembl
CA204723108 rs1024209728	21	V>M		No	ClinGen TOPMed gnomAD
rs1312679200 CA376261988	23	G>D		No	ClinGen TOPMed
rs1312679200 CA376261990	23	G>V		No	ClinGen TOPMed
rs1302272777 CA376262020	25	A>E		No	ClinGen TOPMed gnomAD
TCGA novel	25	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs548533289 CA5438331	26	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	27	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376262040 rs1158437022	27	G>V		No	ClinGen gnomAD
rs941912699 CA204723111	29	G>E		No	ClinGen Ensembl
rs1422139042 CA376262099	33	G>R		No	ClinGen TOPMed gnomAD
rs1422139042 CA376262103	33	G>W		No	ClinGen TOPMed gnomAD
rs747733953 CA5438332	34	P>L		No	ClinGen ExAC gnomAD
rs1186990841 CA376262133	36	L>M		No	ClinGen TOPMed
rs777336578 CA5438334	36	L>Q		No	ClinGen ExAC gnomAD
CA204723117 rs907669280	37	G>A		No	ClinGen TOPMed gnomAD
CA204723118 rs911851386	38	E>G		No	ClinGen Ensembl
CA376262161 rs1393759626	38	E>Q		No	ClinGen gnomAD
rs189447854 CA5438353	40	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA204723119 rs961732000	40	G>R		No	ClinGen TOPMed gnomAD
CA376263571 rs1237128471	41	S>F		No	ClinGen TOPMed
rs770449041 CA5438354	42	L>P		No	ClinGen ExAC TOPMed gnomAD
rs749705647 CA5438356	44	T>A		No	ClinGen ExAC gnomAD
CA5438357 rs201559207	44	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5438359 rs761942342	45	C>R		No	ClinGen ExAC gnomAD
CA5438360 VAR_050448 rs2296466	46	E>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA376263654 rs1406829788	48	P>R		No	ClinGen gnomAD
TCGA novel	50	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5438362 rs760704622	51	K>E		No	ClinGen ExAC TOPMed gnomAD
CA5438363 rs766343038	52	S>C		No	ClinGen ExAC gnomAD
rs199630858 CA5438364	52	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA204724065 rs1009222530	53	E>G		No	ClinGen TOPMed gnomAD
CA376263712 rs1436360915	53	E>K		No	ClinGen TOPMed
CA376263730 rs1383169718	54	W>*		No	ClinGen gnomAD
COSM262074 rs759432644 CA5438365	56	K>N	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	57	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA204724067 rs201493683	59	T>I		No	ClinGen Ensembl
CA5438368 rs758002036	60	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752471479 CA5438367	60	P>S		No	ClinGen ExAC gnomAD
CA376263821 rs1261222481	61	E>A		No	ClinGen gnomAD
CA5438370 rs753222533	61	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs367638197 CA5438372	64	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376263860 rs1213380301	64	Y>C		No	ClinGen TOPMed
rs745379676 CA5438373	65	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs745379676 CA5438374	65	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5438375 rs181802942	66	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5438376 rs375428530	71	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs375428530 CA5438377	71	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5438379 rs368383198	72	E>D		No	ClinGen ESP ExAC TOPMed
CA5438380 rs187064900	73	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1300746366 CA376264034	74	P>A		No	ClinGen gnomAD
rs769642851 CA5438400	79	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs191932981 CA5438402	81	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5438403 rs201313808	81	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5438405 rs759780347	84	E>K		No	ClinGen ExAC gnomAD
CA376264114 rs1393133301	85	A>V		No	ClinGen TOPMed
CA376264118 rs767861534	86	G>A		No	ClinGen ExAC gnomAD
CA5438406 rs767861534	86	G>E		No	ClinGen ExAC gnomAD
CA5438408 rs761111249	87	M>I		No	ClinGen ExAC gnomAD
CA5438407 rs775926786	87	M>T		No	ClinGen ExAC gnomAD
CA376264132 rs1176687507	88	Y>C		No	ClinGen gnomAD
rs764571708 CA5438409	89	H>R		No	ClinGen ExAC gnomAD
CA376264145 rs1164644706	90	C>Y		No	ClinGen gnomAD
rs41277408 CA5438412	91	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs918579486 CA204724761	94	D>E		No	ClinGen TOPMed gnomAD
rs754558586 CA5438414	94	D>H		No	ClinGen ExAC TOPMed gnomAD
CA204724760 rs754558586	94	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA376264200 rs1454477252	98	F>L		No	ClinGen TOPMed gnomAD
CA376264206 rs1267042770	98	F>L		No	ClinGen gnomAD
CA376264210 rs1315480667	99	S>N		No	ClinGen TOPMed gnomAD
CA5438458 rs199642000	103	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1302637480 CA376260636	106	S>F		No	ClinGen gnomAD
CA5438459 rs758435342	106	S>P		No	ClinGen ExAC TOPMed gnomAD
rs780227396 CA5438460	108	T>I		No	ClinGen ExAC gnomAD
rs1033214738 CA204725747	110	W>*		No	ClinGen TOPMed gnomAD
CA5438461 rs747117917	110	W>R		No	ClinGen ExAC gnomAD
rs1259507732 CA376260672	112	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs141332961 CA5438463	113	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1504834 rs373939180 CA376260687	115	E>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs373939180 CA5438465	115	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs375734008 CA204725748	117	H>Y		No	ClinGen ESP TOPMed
TCGA novel	118	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1368393520 CA376260713	119	T>A		No	ClinGen TOPMed
CA5438466 rs773597613	119	T>M		No	ClinGen ExAC TOPMed gnomAD
rs771438695 CA5438468	121	G>R		No	ClinGen ExAC gnomAD
TCGA novel	122	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376260735 rs774911226	123	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5438469 rs774911226	123	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1233433395 CA376260750	125	S>G		No	ClinGen TOPMed gnomAD
CA5438470 rs760223127	125	S>R		No	ClinGen ExAC TOPMed gnomAD
rs760719737 CA5438471	126	H>L		No	ClinGen ExAC gnomAD
rs760719737 CA5438472	126	H>R		No	ClinGen ExAC gnomAD
CA376260764 rs1359849079	127	T>P		No	ClinGen TOPMed gnomAD
rs1163248567 CA376260770	128	G>R		No	ClinGen gnomAD
rs183079090 CA5438475	132	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1411767051 CA376260795	132	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA376260799 rs1329598503	133	L>V		No	ClinGen gnomAD
TCGA novel	134	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750260291 CA5438476	136	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1317625485 CA376260829	138	G>R		No	ClinGen gnomAD
rs766417540 CA5438478	139	S>*		No	ClinGen ExAC TOPMed gnomAD
CA5438479 rs751511192 COSM135970	141	R>C	large_intestine skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5438480 rs368959044	141	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	142	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376260868 rs1260006890	144	V>A		No	ClinGen TOPMed
CA376260867 rs1260006890	144	V>D		No	ClinGen TOPMed
rs1273046710 CA376260866	144	V>I		No	ClinGen gnomAD
CA376260882 rs1215428630	146	C>*		No	ClinGen TOPMed gnomAD
CA376260888 rs1280216604	147	K>R		No	ClinGen TOPMed
rs1437172626 CA376260895	148	Q>R		No	ClinGen gnomAD
CA376260940 rs1469701868	152	H>L		No	ClinGen TOPMed gnomAD
CA204725889 rs1036360483	153	L>P		No	ClinGen TOPMed gnomAD
rs1462264206 CA376260947	154	G>S		No	ClinGen TOPMed
rs765602616 CA5438499	155	H>Y		No	ClinGen ExAC gnomAD
rs756258301 CA5438501	156	V>M		No	ClinGen ExAC TOPMed gnomAD
rs887223244 CA376260974	158	P>S		No	ClinGen TOPMed gnomAD
CA204725890 rs887223244	158	P>T		No	ClinGen TOPMed gnomAD
CA5438502 rs777965156	159	D>N		No	ClinGen ExAC gnomAD
rs754112541 CA5438503	160	G>A		No	ClinGen ExAC TOPMed gnomAD
CA5438504 rs757592264	161	P>L		No	ClinGen ExAC gnomAD
rs1254157451 CA376260995	162	G>R		No	ClinGen gnomAD
CA376260998 rs1486761597	162	G>V		No	ClinGen TOPMed gnomAD
rs1261358808 CA376261008	164	N>D		No	ClinGen gnomAD
CA5438506 rs560833189	164	N>S		No	ClinGen ExAC gnomAD
CA5438507 rs772472605	165	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1215371885 CA376261021	166	Q>*		No	ClinGen TOPMed
CA5438508 rs780689128	166	Q>P		No	ClinGen ExAC gnomAD
CA5438510 rs769488096	172	S>G		No	ClinGen ExAC gnomAD
rs1366056470 CA376261066	172	S>N		No	ClinGen gnomAD
rs762733560 CA5438512	176	K>E		No	ClinGen ExAC TOPMed gnomAD
rs11554774 CA204725891	177	F>S		No	ClinGen Ensembl
rs1359527041 CA376261131	181	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs774035939 CA5438514	183	H>C		No	ClinGen ExAC gnomAD
rs770808976 CA5438513	183	H>L		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9Y3D2

4 regional properties for Q9Y3D2

Type	Name	Position	InterPro Accession
domain	DNA mismatch repair protein MutS, C-terminal	789 - 984	IPR000432
domain	DNA mismatch repair protein MutS-like, N-terminal	142 - 265	IPR007695
domain	DNA mismatch repair protein MutS, core	426 - 773	IPR007696
domain	DNA mismatch repair protein MutS, connector domain	297 - 372	IPR007860

Functions

		Description
EC Number	1.8.4.12	With a disulfide as acceptor
Subcellular Localization	Mitochondrion
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
L-methionine-(R)-S-oxide reductase activity	Catalysis of the reaction: L-methionine + thioredoxin disulfide + H2O = L-methionine (R)-S-oxide + thioredoxin.
peptide-methionine (R)-S-oxide reductase activity	Catalysis of the reaction: peptide-L-methionine + H(2)O + thioredoxin disulfide = peptide-L-methionine (R)-S-oxide + thioredoxin. Can act on oxidized methionine in peptide linkage with specificity for the R enantiomer. Thioredoxin disulfide is the oxidized form of thioredoxin.
zinc ion binding	Binding to a zinc ion (Zn).

3 GO annotations of biological process

Name	Definition
actin filament polymerization	Assembly of actin filaments by the addition of actin monomers to a filament.
protein repair	The process of restoring a protein to its original state after damage by such things as oxidation or spontaneous decomposition of residues.
response to oxidative stress	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MARLLWLLRG	LTLGTAPRRA	VRGQAGGGGP	GTGPGLGEAG	SLATCELPLA	KSEWQKKLTP
70	80	90	100	110	120
EQFYVTREKG	TEPPFSGIYL	NNKEAGMYHC	VCCDSPLFSS	EKKYCSGTGW	PSFSEAHGTS
130	140	150	160	170	180
GSDESHTGIL	RRLDTSLGSA	RTEVVCKQCE	AHLGHVFPDG	PGPNGQRFCI	NSVALKFKPR

KH