AiPD: Autoinhibited Protein Database

Q9BVV7

Gene name	TIMM21 (C18orf55, TIM21, HSPC154)
Protein name	Mitochondrial import inner membrane translocase subunit Tim21
Names	TIM21-like protein, mitochondrial
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29090
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

41-119 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

41-119 (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 Q9BVV7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BVV7-F1	Predicted				AlphaFoldDB

204 variants for Q9BVV7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs912235359 CA302725910	3	C>G		No	ClinGen TOPMed
rs1372212661 CA402746193	4	T>A		No	ClinGen TOPMed
rs138821958 CA8998079	4	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA402746202 rs1417027264	5	F>S		No	ClinGen gnomAD
rs756906326 CA402746209	6	L>P		No	ClinGen ExAC TOPMed gnomAD
CA8998080 rs756906326	6	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA302725926 rs199888673	8	A>P		No	ClinGen gnomAD
rs142206892 CA8998082	8	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8998084 rs779444567	10	Q>R		No	ClinGen ExAC gnomAD
CA402746233 rs1281021705	11	Y>H		No	ClinGen TOPMed gnomAD
rs1290010093 CA402746248	13	E>Q		No	ClinGen TOPMed
TCGA novel	15	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402746268 rs1222291979	16	H>Y		No	ClinGen TOPMed
CA8998086 rs758489733	17	R>G		No	ClinGen ExAC
CA402746285 rs1568189379	18	S>F		No	ClinGen Ensembl
rs1447197257 CA402746289	19	S>A		No	ClinGen gnomAD
CA8998087 rs777893878	19	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	22	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs557260954 CA8998089	22	R>G		No	ClinGen ExAC gnomAD
rs776869928 CA8998090	24	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8998091 rs745632196	24	L>R		No	ClinGen ExAC gnomAD
rs769530296 CA8998092	25	L>F		No	ClinGen ExAC TOPMed gnomAD
rs144352233 CA8998093	26	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144352233 CA302725960	26	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762868376 CA8998094 CA402746346	29	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8998095 rs762868376	29	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8998096 rs773937754	30	L>F		No	ClinGen ExAC gnomAD
CA8998097 rs761428169	33	A>V		No	ClinGen ExAC gnomAD
CA8998098 rs767235348	35	L>M		No	ClinGen ExAC gnomAD
CA8998099 rs371231552	35	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3937802 rs755347946 CA8998100	39	P>S	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8998102 rs753242199	42	R>K		No	ClinGen ExAC gnomAD
rs1164953141 CA402746439	43	C>R		No	ClinGen TOPMed
rs778276713 CA8998104	45	L>R		No	ClinGen ExAC gnomAD
COSM248732 CA302726002 rs748198584	47	Y>*	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA402746468 rs1455948062	47	Y>C		No	ClinGen TOPMed gnomAD
CA402746479 rs1599205959	49	K>Q		No	ClinGen Ensembl
CA8998105 rs751600715	50	K>E		No	ClinGen ExAC TOPMed gnomAD
rs757368880 CA8998106	51	T>A		No	ClinGen ExAC TOPMed gnomAD
CA8998107 rs148630515	51	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8998109 rs769630155	52	L>R		No	ClinGen ExAC gnomAD
CA8998110 rs779650220	53	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1042944862 CA302726020	54	P>S		No	ClinGen Ensembl
rs768426545 CA8998112	56	C>W		No	ClinGen ExAC gnomAD
CA302726022 rs1002907077	56	C>Y		No	ClinGen TOPMed gnomAD
CA8998113 rs774457041	58	L>V		No	ClinGen ExAC TOPMed gnomAD
rs772984727 CA8998116	61	T>I		No	ClinGen ExAC gnomAD
rs1268829292 CA402746579	65	I>T		No	ClinGen TOPMed
rs766057902 CA8998118	66	W>*		No	ClinGen ExAC gnomAD
rs752957466 CA8998119	67	T>M		No	ClinGen ExAC TOPMed gnomAD
CA402746600 rs1568189548	68	Q>L		No	ClinGen Ensembl
rs1568189554 CA402746608	69	G>E		No	ClinGen Ensembl
rs763408358 CA8998120	70	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752110195 CA8998122	76	K>N		No	ClinGen ExAC gnomAD
CA8998121 rs764554238	76	K>T		No	ClinGen ExAC gnomAD
CA8998123 rs200625916	77	E>K		No	ClinGen ExAC gnomAD
CA8998125 rs750523747	79	G>D		No	ClinGen ExAC gnomAD
rs3737512 VAR_052306 CA8998124	79	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8998126 rs200022512	82	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8998127 rs185377253	83	V>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	86	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA302726093 COSM4140166 rs746933845	88	S>N	ovary [Cosmic]	No	ClinGen cosmic curated Ensembl
CA8998133 rs139456154	91	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA302726123 rs139456154	91	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs151131593 CA302726103	91	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8998132 rs139456154	91	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8998131 rs151131593	91	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402746757 rs1294803485	93	T>A		No	ClinGen TOPMed gnomAD
CA402746768 rs1248790447	95	V>I		No	ClinGen TOPMed
CA8998136 rs770451974	96	P>L		No	ClinGen ExAC gnomAD
rs1481234836 CA402746781	97	T>A		No	ClinGen gnomAD
CA402746784 rs1446916543	97	T>I		No	ClinGen TOPMed
rs1207972065 CA402746790	98	S>L		No	ClinGen gnomAD
CA402746791 rs1599206191	99	Q>K		No	ClinGen Ensembl
CA402746795 rs1599206212	99	Q>R		No	ClinGen Ensembl
rs1485583203 CA402746803	100	K>R		No	ClinGen gnomAD
TCGA novel	101	V>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762191215 CA8998158	103	E>K		No	ClinGen ExAC gnomAD
CA8998159 rs767969197	105	G>R		No	ClinGen ExAC gnomAD
rs1301834201 CA402747398	106	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs756895979 CA302730207	107	D>Y		No	ClinGen Ensembl
TCGA novel	108	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1281126194 CA402747440	112	I>T		No	ClinGen gnomAD
CA8998161 rs371309985	114	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA302730245 rs1057239314	115	L>F		No	ClinGen Ensembl
rs760645079 CA8998162	115	L>P		No	ClinGen ExAC gnomAD
TCGA novel	116	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215310513	116	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA402747488 rs1191862682	120	I>V		No	ClinGen gnomAD
CA8998164 rs754001060	121	T>I		No	ClinGen ExAC gnomAD
CA8998165 rs755184007	122	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	123	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1394555912 CA402747518	123	G>S		No	ClinGen TOPMed gnomAD
CA8998185 rs200031543	123	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA302730413 rs1019701975	124	L>W		No	ClinGen TOPMed
CA402747536 rs1353301834	126	Y>D		No	ClinGen gnomAD
CA8998186 rs145075415	127	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8998187 rs762828541	130	K>T		No	ClinGen ExAC TOPMed gnomAD
rs764016839 CA8998188	131	E>*		No	ClinGen ExAC TOPMed gnomAD
rs764016839 CA302730423	131	E>K		No	ClinGen ExAC TOPMed gnomAD
CA402747578 rs1454873855	132	L>F		No	ClinGen TOPMed
CA8998190 rs148956058	135	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs751319359 CA8998189	135	S>P		No	ClinGen ExAC gnomAD
CA402747630 rs1232103083	140	K>E		No	ClinGen TOPMed gnomAD
rs781015726 CA8998191	141	I>T		No	ClinGen ExAC gnomAD
CA8998192 rs528588522	142	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1298043688 CA402747643	142	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8998194 rs199965974	144	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA302730477 rs199965974	144	R>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1028107078 CA302730479	146	L>S		No	ClinGen TOPMed
CA402747676 rs1273250832	147	E>G		No	ClinGen gnomAD
rs748994093 CA8998195	147	E>K		No	ClinGen ExAC gnomAD
CA8998197 rs778132407	149	C>G		No	ClinGen ExAC gnomAD
CA8998198 rs747347327	150	R>*		No	ClinGen ExAC gnomAD
CA302730489 rs968687839	151	S>*		No	ClinGen Ensembl
rs1424221185 CA402747706	152	H>Y		No	ClinGen TOPMed
rs755629945 CA8998199	153	P>T		No	ClinGen ExAC TOPMed gnomAD
rs778450706 CA8998216	155	V>L		No	ClinGen ExAC TOPMed gnomAD
rs778450706 CA402747872	155	V>M		No	ClinGen ExAC TOPMed gnomAD
CA302732216 rs771251150	157	G>C		No	ClinGen ExAC TOPMed gnomAD
CA8998218 rs771251150	157	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1346942222 CA402747887	157	G>V		No	ClinGen TOPMed gnomAD
CA302732225 rs958111087	158	V>I		No	ClinGen TOPMed
rs1189965930 CA402747907	161	E>K		No	ClinGen gnomAD
CA8998221 rs770430431	162	S>A		No	ClinGen ExAC gnomAD
CA8998222 rs775657101	163	V>A		No	ClinGen ExAC gnomAD
CA402747920 rs1193634055	163	V>I		No	ClinGen gnomAD
rs762968630 CA8998223	164	K>E		No	ClinGen ExAC TOPMed gnomAD
rs989302462 CA302732261	166	Y>C		No	ClinGen TOPMed gnomAD
rs1413760260 CA402747940	166	Y>N		No	ClinGen gnomAD
CA302732256 rs989302462	166	Y>S		No	ClinGen TOPMed gnomAD
CA8998225 rs774480216	167	G>R		No	ClinGen ExAC TOPMed gnomAD
rs757491617 CA302732271	169	V>M		No	ClinGen Ensembl
CA8998227 rs767355513	172	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1392425069 CA402747976	172	R>W		No	ClinGen gnomAD
CA302732276 rs377283715	173	G>V		No	ClinGen TOPMed gnomAD
CA8998230 rs150135555	174	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs74692556 CA8998231	174	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs74692556 CA402747987	174	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8998235 rs201219016	175	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8998233 rs553191760	175	R>W	Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed
rs780156026 CA302732304	176	Q>*		No	ClinGen Ensembl
CA8998236 rs752350649	178	V>I		No	ClinGen ExAC TOPMed gnomAD
rs776471947 CA8998255	180	F>I		No	ClinGen ExAC gnomAD
TCGA novel	183	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8998257 rs201611282	185	K>N		No	ClinGen ExAC gnomAD
CA8998259 rs758067227	186	D>E		No	ClinGen ExAC
CA8998258 rs752258836	186	D>G		No	ClinGen ExAC gnomAD
CA402748072 rs1184542326 COSM2153430	186	D>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA402748107 rs763864008	191	T>K		No	ClinGen ExAC TOPMed gnomAD
CA8998260 rs763864008	191	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1474894332	191	T>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs202084098 CA8998262	193	V>M		No	ClinGen ESP ExAC gnomAD
rs372431964 CA8998263	199	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs372431964 CA402748161	199	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1310653532 CA402748170	200	S>C		No	ClinGen gnomAD
CA8998265 rs755077960 CA402748186	203	G>R		No	ClinGen ExAC TOPMed gnomAD
rs748270204 COSM3362593 CA8998267	206	G>E	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs555411021 CA8998268	207	T>M	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA402748221 rs1472311501	208	V>A		No	ClinGen TOPMed
rs1599211548 CA402748218	208	V>L		No	ClinGen Ensembl
rs181140231 CA8998271	209	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
CA8998272 rs776627107	210	A>T		No	ClinGen ExAC gnomAD
CA8998273 rs186647303	210	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA302732563 rs200876618	211	Q>R		No	ClinGen 1000Genomes
CA8998275 rs1031353155	214	E>K		No	ClinGen TOPMed
rs563011907 CA8998293	215	N>T		No	ClinGen 1000Genomes ExAC gnomAD
CA402748289 rs1456774371	217	G>E		No	ClinGen TOPMed
rs769581821 CA8998295	218	S>I		No	ClinGen ExAC TOPMed gnomAD
rs769581821 CA8998296	218	S>N		No	ClinGen ExAC TOPMed gnomAD
CA8998297 rs762533805	219	G>D		No	ClinGen ExAC gnomAD
rs376305064 CA302732686	222	D>N		No	ClinGen ESP TOPMed gnomAD
rs774139287 CA8998300	224	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs143295538 CA402748336	224	R>L		No	ClinGen ESP TOPMed
rs143295538 CA8998301	224	R>Q		No	ClinGen ESP TOPMed
rs1301902432 CA402748341	225	Y>C		No	ClinGen TOPMed gnomAD
rs1301902432 CA402748340	225	Y>F		No	ClinGen TOPMed gnomAD
CA402748346 rs1284387483	226	I>V		No	ClinGen TOPMed
CA8998305 rs767209501	228	V>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	229	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402748376 rs1208387448	230	I>T		No	ClinGen gnomAD
rs955500674 CA302732759	230	I>V		No	ClinGen TOPMed gnomAD
rs138788227 CA8998306	231	E>Q		No	ClinGen ESP ExAC gnomAD
rs1273892278 CA402748396	233	Y>C		No	ClinGen TOPMed
CA8998307 rs141947557	234	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8998308 rs373352376	234	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1246059433 CA402748408	235	R>I		No	ClinGen gnomAD
rs753251059 CA8998309	236	R>K		No	ClinGen ExAC
CA8998310 rs758459307	237	T>A		No	ClinGen ExAC gnomAD
rs777764573 CA8998311	238	I>V		No	ClinGen ExAC TOPMed gnomAD
rs751652051 CA8998312	240	I>V		No	ClinGen ExAC gnomAD
rs757374204 CA8998313	242	D>H		No	ClinGen ExAC TOPMed gnomAD
CA8998314 rs781510029	242	D>V		No	ClinGen ExAC gnomAD
CA402748501 rs376467767	244	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs376467767 CA8998315	244	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA402748506 rs200075891	244	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs200075891 CA302732817	244	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
CA402748514 rs1568192826	245	S>C		No	ClinGen Ensembl
CA8998316 rs769682811	246	Q>R		No	ClinGen ExAC gnomAD
CA402748540 rs1396708474	247	D>G		No	ClinGen TOPMed
rs1437864727 CA402748536	247	D>N		No	ClinGen gnomAD
rs749308587 CA8998318	248	D>N		No	ClinGen ExAC gnomAD
CA8998319 rs749308587	248	D>Y		No	ClinGen ExAC gnomAD
CA302732832 rs866191273	249	D>Y		No	ClinGen Ensembl

No associated diseases with Q9BVV7

No regional properties for Q9BVV7

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9BVV7

Functions

		Description
EC Number
Subcellular Localization	Mitochondrion membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
mitochondrial inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
TIM23 mitochondrial import inner membrane translocase complex	The protein transport machinery of the mitochondrial inner membrane that typically transports proteins that possess a matrix-targeting N-terminal presequence. The TIM23 complex contains three essential Tim proteins: Tim17 and Tim23 are thought to build a preprotein translocation channel while Tim44 interacts transiently with the matrix heat-shock protein Hsp70 to form an ATP-driven import motor.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

4 GO annotations of biological process

Name	Definition
intracellular protein transport	The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
mitochondrial cytochrome c oxidase assembly	The aggregation, arrangement and bonding together of a set of components to form respiratory chain complex IV (also known as cytochrome c oxidase) in the mitochondrial inner membrane.
mitochondrial respiratory chain complex I assembly	The aggregation, arrangement and bonding together of a set of components to form mitochondrial respiratory chain complex I.
protein import into mitochondrial matrix	The import of proteins across the outer and inner mitochondrial membranes into the matrix. Unfolded proteins enter the mitochondrial matrix with a chaperone protein; the information required to target the precursor protein from the cytosol to the mitochondrial matrix is contained within its N-terminal matrix-targeting sequence. Translocation of precursors to the matrix occurs at the rare sites where the outer and inner membranes are close together.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MICTFLRAVQ	YTEKLHRSSA	KRLLLPYIVL	NKACLKTEPS	LRCGLQYQKK	TLRPRCILGV
70	80	90	100	110	120
TQKTIWTQGP	SPRKAKEDGS	KQVSVHRSQR	GGTAVPTSQK	VKEAGRDFTY	LIVVLFGISI
130	140	150	160	170	180
TGGLFYTIFK	ELFSSSSPSK	IYGRALEKCR	SHPEVIGVFG	ESVKGYGEVT	RRGRRQHVRF
190	200	210	220	230	240
TEYVKDGLKH	TCVKFYIEGS	EPGKQGTVYA	QVKENPGSGE	YDFRYIFVEI	ESYPRRTIII

EDNRSQDD