AiPD: Autoinhibited Protein Database

Q9BVC6

Gene name	TMEM109
Protein name	Transmembrane protein 109
Names	Mitsugumin-23, Mg23
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79073
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

177-243 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

177-243 (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 Q9BVC6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BVC6-F1	Predicted				AlphaFoldDB

186 variants for Q9BVC6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA380614414 rs1181192138	3	A>D		No	ClinGen TOPMed
CA380614448 rs1417310121	6	I>V		No	ClinGen TOPMed gnomAD
rs1200347666 CA380614465	7	S>N		No	ClinGen gnomAD
CA6028240 rs764889781	8	S>L		No	ClinGen ExAC gnomAD
rs1477427670 CA380614491	9	P>L		No	ClinGen gnomAD
rs1237985135 CA380614484	9	P>S		No	ClinGen TOPMed
CA6028242 rs760188680	10	W>*		No	ClinGen ExAC gnomAD
rs1402038476 CA380614499	10	W>R		No	ClinGen gnomAD
TCGA novel CA380614515 rs1332541191	11	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA6028245 rs202168570	13	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6028246 rs202168570	13	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753107447 CA6028244	13	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1565115855 CA380614580	16	K>T		No	ClinGen Ensembl
CA222807913 rs774717321	18	I>F		No	ClinGen Ensembl
rs1451668782 CA380614657	23	V>A		No	ClinGen gnomAD
CA380614667 rs1390015466	24	A>D		No	ClinGen gnomAD
rs201311974 CA6028249	24	A>P		No	ClinGen 1000Genomes TOPMed gnomAD
rs201311974 CA380614663	24	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
CA380614697 rs1360324464	26	I>T		No	ClinGen gnomAD
CA6028252 rs745932614	27	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1257244570 CA380614709	27	L>P		No	ClinGen gnomAD
CA6028254 rs779791251	30	S>A		No	ClinGen ExAC gnomAD
CA380614754 rs1196660245	31	A>E		No	ClinGen gnomAD
CA6028255 rs746855608	31	A>T		No	ClinGen ExAC gnomAD
CA6028259 rs150820716	33	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6028258 rs150820716	33	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772917152 CA6028261	36	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM2036631 CA6028262 rs139328208	36	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA6028264 rs139328208	36	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6028263 rs139328208	36	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380614791 rs1392096081	37	R>*		No	ClinGen gnomAD
CA6028265 rs2301726	37	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6028266 rs373230030	38	D>H		No	ClinGen ESP ExAC gnomAD
rs1436884494 CA380614803	39	F>L		No	ClinGen gnomAD
rs754193967 CA6028268	39	F>L		No	ClinGen ExAC TOPMed gnomAD
rs757530767 CA6028269	41	P>L		No	ClinGen ExAC gnomAD
rs765382984 CA6028270	49	A>T		No	ClinGen ExAC gnomAD
CA6028272 rs758372233	51	V>D		No	ClinGen ExAC gnomAD
rs537647180 CA6028273	53	V>F		No	ClinGen 1000Genomes ExAC gnomAD
CA222807938 rs772400558	56	Q>H		No	ClinGen TOPMed gnomAD
CA222807939 rs377134706	58	G>S		No	ClinGen ESP TOPMed gnomAD
rs1243678500 CA380614930	58	G>V		No	ClinGen TOPMed
CA6028275 rs754913552	59	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs147616072 CA6028276	59	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA380614941 rs1488776764	61	V>L		No	ClinGen TOPMed
rs773271783 CA6028278 COSM1162957	62	R>*	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6028279 rs772957870	62	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1424642382 CA380614949	63	G>R		No	ClinGen TOPMed gnomAD
rs748827446 CA6028280	63	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA380614956 rs1212676459	64	T>S		No	ClinGen gnomAD
rs770392931 CA6028281	66	D>G		No	ClinGen ExAC gnomAD
CA380614972 rs1314104834	67	A>T		No	ClinGen TOPMed
CA380614992 rs1313235936	69	I>M		No	ClinGen gnomAD
CA380614990 rs1397560742	69	I>T		No	ClinGen gnomAD
CA222807949 rs920471600	69	I>V		No	ClinGen TOPMed gnomAD
rs1243735035 CA380615023	74	M>T		No	ClinGen TOPMed gnomAD
rs1303328074 CA380615020	74	M>V		No	ClinGen gnomAD
CA6028282 rs773877216	75	H>Y		No	ClinGen ExAC gnomAD
rs761153217 CA6028283	76	L>V		No	ClinGen ExAC gnomAD
rs1405932575 CA380615189	81	S>L		No	ClinGen TOPMed gnomAD
rs995319480 CA222808133	82	S>C		No	ClinGen Ensembl
rs1176995083 CA380615221	84	V>L		No	ClinGen gnomAD
CA380615256 rs1590617538	86	W>*		No	ClinGen Ensembl
rs762189218 CA6028304	87	A>T		No	ClinGen ExAC gnomAD
rs765640804 CA6028305	87	A>V		No	ClinGen ExAC gnomAD
CA380615273 rs1565116140	88	I>L		No	ClinGen Ensembl
CA6028306 rs773534685	89	S>T		No	ClinGen ExAC gnomAD
CA380615302 rs1441443221	90	S>*		No	ClinGen gnomAD
rs1441443221 CA380615304	90	S>L		No	ClinGen gnomAD
CA380615350 rs1302723465	94	V>A		No	ClinGen TOPMed
rs766614439 CA380615346	94	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6028308 rs766614439	94	V>M		No	ClinGen ExAC TOPMed gnomAD
CA380615357 rs1446314378	95	A>S		No	ClinGen TOPMed
CA6028310 rs372347273	98	A>S		No	ClinGen ESP ExAC gnomAD
CA222808143 rs200014880	103	A>T		No	ClinGen TOPMed gnomAD
COSM1355141 CA6028316 rs753654818	104	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA380615532 rs1384546535	109	A>D		No	ClinGen TOPMed
rs1409181650 CA380615547	110	L>F		No	ClinGen gnomAD
rs201261079 CA6028319	112	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6028335 rs753579365	114	G>D		No	ClinGen ExAC gnomAD
rs746000733 CA380615705	118	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6028338 rs746000733	118	A>T		No	ClinGen ExAC TOPMed gnomAD
CA380615717 rs1357303916	119	Q>*		No	ClinGen gnomAD
TCGA novel	119	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	119	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1218899216 CA380615734	120	G>D		No	ClinGen gnomAD
CA6028339 rs758015533	121	L>V		No	ClinGen ExAC gnomAD
CA380615772 rs1400193635	123	L>P		No	ClinGen TOPMed
CA6028341 rs746512873	127	Q>E		No	ClinGen ExAC gnomAD
rs1239030308 CA380615820	127	Q>L		No	ClinGen gnomAD
CA6028342 rs770302461	128	V>I		No	ClinGen ExAC gnomAD
rs1182857089 CA380615856	130	T>N		No	ClinGen gnomAD
rs778279542 CA6028343	131	F>L		No	ClinGen ExAC gnomAD
rs1383770913 CA380615903	134	W>S		No	ClinGen gnomAD
CA222808245 rs945171811	136	A>S		No	ClinGen Ensembl
rs771374233 CA6028345	137	G>A		No	ClinGen ExAC gnomAD
CA6028346 rs774546009	138	A>S		No	ClinGen ExAC TOPMed
CA380615958 rs1408698292	140	V>I		No	ClinGen gnomAD
CA6028348 rs199887708	141	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6028349 rs536638844	142	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1242389099 CA380616035	146	S>C		No	ClinGen TOPMed gnomAD
rs1236223517 CA380616045	147	L>P		No	ClinGen TOPMed
CA222808247 rs375042502	148	L>I		No	ClinGen ESP TOPMed gnomAD
CA380616061 rs1281021101	149	L>F		No	ClinGen gnomAD
CA6028352 rs776580158	149	L>R		No	ClinGen ExAC gnomAD
rs750181700 CA380616075	150	G>A		No	ClinGen ExAC TOPMed gnomAD
CA6028355 rs750181700	150	G>D		No	ClinGen ExAC TOPMed gnomAD
rs368906004 CA6028354	150	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1235106331 CA380616091	151	L>F		No	ClinGen TOPMed
rs1362749087 CA380616106	153	L>V		No	ClinGen gnomAD
rs1468181921 CA380616121	154	A>P		No	ClinGen gnomAD
rs765962512 CA6028357	158	R>Q		No	ClinGen ExAC gnomAD
rs758105259 CA380616160	158	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA380616202 rs1393688179	161	W>*		No	ClinGen gnomAD
CA6028359 rs754447668	163	L>M		No	ClinGen ExAC gnomAD
CA6028360 rs778168545	165	L>F		No	ClinGen ExAC gnomAD
rs778168545 CA222808248	165	L>V		No	ClinGen ExAC gnomAD
rs866063054 CA380616308	170	A>D		No	ClinGen TOPMed gnomAD
rs866063054 CA222808250	170	A>G		No	ClinGen TOPMed gnomAD
CA380616306 rs1355434910	170	A>T		No	ClinGen TOPMed
CA222808251 rs866063054	170	A>V		No	ClinGen TOPMed gnomAD
rs201721653 CA6028366	171	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1196262079 CA380616319	171	G>V		No	ClinGen gnomAD
CA6028367 rs140800879	173	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6028368 rs140800879	173	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6028370 rs200568903	174	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372614972 CA6028371	177	R>M		No	ClinGen ESP ExAC gnomAD
rs765072747 CA6028372	178	S>L		No	ClinGen ExAC TOPMed gnomAD
rs139600243 CA6028375	181	D>N		No	ClinGen 1000Genomes ExAC TOPMed
rs751167037 CA6028376	182	P>L		No	ClinGen ExAC TOPMed gnomAD
COSM3359261 CA6028378 rs767119432	185	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1307749410 COSM193218 CA380616475	185	R>W	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1374659731 CA380616514	189	L>F		No	ClinGen TOPMed
TCGA novel	190	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs952343782 CA222808257	191	A>S		No	ClinGen Ensembl
rs757792194 CA6028380	191	A>V		No	ClinGen ExAC gnomAD
CA380616555 rs1352367384	193	L>V		No	ClinGen gnomAD
rs1250688836 CA380616570	194	I>T		No	ClinGen gnomAD
TCGA novel	195	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1590618286 CA380616593	196	Y>S		No	ClinGen Ensembl
CA6028381 rs375366268	197	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1269030304 CA380616610	197	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6028383 rs369970045	201	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs746266349 CA6028382	201	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA380616698 rs1194420676	205	S>F		No	ClinGen gnomAD
CA6028385 rs747276262	205	S>P		No	ClinGen ExAC
rs768757767 CA6028387	206	R>*		No	ClinGen ExAC TOPMed gnomAD
rs768757767 CA6028386	206	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6028389 rs372256119	206	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs372256119 CA6028388	206	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs373905071 CA222808260	208	S>A		No	ClinGen ESP
CA6028390 rs773098408	210	A>T		No	ClinGen ExAC gnomAD
rs75070807 CA6028391	210	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774124860 CA6028393	211	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA380616764 rs1473622697	213	E>D		No	ClinGen TOPMed
CA6028397 rs752252867	214	A>S		No	ClinGen ExAC gnomAD
CA6028398 rs760062531	216	V>G		No	ClinGen ExAC gnomAD
rs765795436 CA6028399 COSM1355142	217	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs374688846 CA222808274	217	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6028400 rs374688846	217	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA380616787 rs1358037373	218	G>R		No	ClinGen gnomAD
CA6028403 rs751959578	221	R>C		No	ClinGen ExAC TOPMed gnomAD
rs978610246 CA222808280	221	R>H		No	ClinGen gnomAD
rs1185912756 CA380616834	225	E>G		No	ClinGen TOPMed gnomAD
rs1386422978 CA380616839	226	L>V		No	ClinGen gnomAD
rs372454248 CA6028406	227	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6028407 rs372454248	227	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1294258486 CA380616849	228	W>G		No	ClinGen TOPMed
rs201167204 CA6028408	229	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs777811546 CA6028409	229	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6028410 COSM1732581 rs749287470	232	R>*	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA380616875 rs749287470	232	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6028412 rs770839903	232	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6028411 rs770839903	232	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6028414 rs771787362	233	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1454392148 CA380616877	233	A>T		No	ClinGen gnomAD
CA222808298 rs771787362	233	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6028416 rs760351604	234	A>T		No	ClinGen ExAC gnomAD
CA6028417 rs763736456	236	G>E		No	ClinGen ExAC gnomAD
rs1237830975 CA380616899	237	A>T		No	ClinGen TOPMed gnomAD
CA6028419 rs763615726	238	R>C		No	ClinGen ExAC gnomAD
rs61732710 CA6028420	238	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA222808305 rs61732710	238	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1206042721 CA380616911	239	S>N		No	ClinGen gnomAD
CA380616930 rs1181797624	242	E>K		No	ClinGen TOPMed gnomAD
CA380616948 rs1590618466	244	E>G		No	ClinGen Ensembl

No associated diseases with Q9BVC6

No regional properties for Q9BVC6

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9BVC6

Functions

		Description
EC Number
Subcellular Localization	Nucleus outer membrane ; Multi-pass membrane protein Endoplasmic reticulum membrane ; Multi-pass membrane protein Sarcoplasmic reticulum membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 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.
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.
nuclear outer membrane	The outer, i.e. cytoplasm-facing, lipid bilayer of the nuclear envelope; continuous with the endoplasmic reticulum of the cell and sometimes studded with ribosomes.
sarcoplasmic reticulum membrane	The lipid bilayer surrounding the sarcoplasmic reticulum.

1 GO annotations of molecular function

Name	Definition
voltage-gated ion channel activity	Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.

4 GO annotations of biological process

Name	Definition
cellular response to gamma radiation	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 gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum.
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage, and ends when the execution phase of apoptosis is triggered.
negative regulation of cell death	Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death.
regulation of ion transmembrane transport	Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MAASSISSPW	GKHVFKAILM	VLVALILLHS	ALAQSRRDFA	PPGQQKREAP	VDVLTQIGRS
70	80	90	100	110	120
VRGTLDAWIG	PETMHLVSES	SSQVLWAISS	AISVAFFALS	GIAAQLLNAL	GLAGDYLAQG
130	140	150	160	170	180
LKLSPGQVQT	FLLWGAGALV	VYWLLSLLLG	LVLALLGRIL	WGLKLVIFLA	GFVALMRSVP
190	200	210	220	230	240
DPSTRALLLL	ALLILYALLS	RLTGSRASGA	QLEAKVRGLE	RQVEELRWRQ	RRAAKGARSV

EEE