AiPD: Autoinhibited Protein Database

Q5SWH9

Gene name	TMEM69 (C1orf154, HSPC229)
Protein name	Transmembrane protein 69
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51249
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

9-132 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

9-132 (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 Q5SWH9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5SWH9-F1	Predicted				AlphaFoldDB

185 variants for Q5SWH9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs529838228 CA830208	3	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs199639691 CA830209	3	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376918735 CA830211	6	Q>P		No	ClinGen ESP ExAC gnomAD
CA340148839 rs1463446652 CA340148837	7	K>N		No	ClinGen TOPMed gnomAD
rs761451942 CA830212	9	S>F		No	ClinGen ExAC gnomAD
rs753340227 CA830214	10	Q>E		No	ClinGen ExAC gnomAD
CA340148908 rs1411845695	11	A>P		No	ClinGen TOPMed gnomAD
CA340148904 rs1411845695	11	A>T		No	ClinGen TOPMed gnomAD
CA340148924 rs1402683451	12	S>P		No	ClinGen TOPMed gnomAD
rs1320412644 CA340148934	13	S>P		No	ClinGen TOPMed
CA340148969 rs758882971	14	K>N		No	ClinGen ExAC gnomAD
rs1276583140 CA340149819	15	I>T		No	ClinGen gnomAD
rs755407821 CA830238	16	L>P		No	ClinGen ExAC gnomAD
rs551643675 CA830239	18	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA830241 rs748458736	19	S>C		No	ClinGen ExAC gnomAD
CA830242 rs756376678	21	P>L		No	ClinGen ExAC gnomAD
CA340149869 rs1557732162	23	G>A		No	ClinGen Ensembl
rs778627158 CA830245	31	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1420995115 CA340149991	32	L>F		No	ClinGen gnomAD
CA340149999 rs1569925766	32	L>P		No	ClinGen Ensembl
CA340149989 rs1420995115	32	L>V		No	ClinGen gnomAD
rs774230495 CA830246	33	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1306903978 CA340150029	34	L>V		No	ClinGen gnomAD
rs201048965 CA21847605	36	M>L		No	ClinGen Ensembl
CA830247 rs745850202	36	M>T		No	ClinGen ExAC gnomAD
CA830248 rs146017032	37	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1557732214 CA340150132	38	L>P		No	ClinGen Ensembl
rs537668132 CA830250	40	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	42	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340150235 rs1230958610	42	F>Y		No	ClinGen gnomAD
CA830251 rs182542658	43	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA830252 rs182542658	43	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs949063536 CA21847626	44	P>L		No	ClinGen TOPMed
rs919435559 CA21847635	45	C>Y		No	ClinGen Ensembl
rs1229184429 CA340150329	46	P>L		No	ClinGen gnomAD
rs1228406344 CA340150332	47	R>G		No	ClinGen TOPMed
rs761317001 CA830255	47	R>K		No	ClinGen ExAC gnomAD
CA830256 rs764805057	47	R>S		No	ClinGen ExAC gnomAD
CA21847637 rs370331232	48	P>L		No	ClinGen Ensembl
CA830257 rs749859096	49	W>*		No	ClinGen ExAC TOPMed gnomAD
CA830258 rs200524125	50	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA340150424 rs1451439200	51	S>F		No	ClinGen gnomAD
rs767985703 CA830259	54	F>L		No	ClinGen ExAC gnomAD
rs1450660999 CA340150532	56	A>V		No	ClinGen TOPMed gnomAD
rs1569926016 CA340150554	57	Y>C		No	ClinGen Ensembl
rs1569926028 CA340150572	58	M>V		No	ClinGen Ensembl
rs911997789 CA21847692	59	S>N		No	ClinGen Ensembl
rs535413409 CA340150642	61	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535413409 CA830262	61	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA830264 rs560345889	62	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs779074584 CA830265	63	C>F		No	ClinGen ExAC gnomAD
CA340150654 rs1281158641	63	C>R		No	ClinGen TOPMed gnomAD
CA21847725 rs781614831	67	S>A		No	ClinGen TOPMed gnomAD
CA21847734 rs888261892	68	P>L		No	ClinGen TOPMed gnomAD
CA340150744 rs1433298536	68	P>T		No	ClinGen Ensembl
CA830268 rs772176408	69	C>R		No	ClinGen ExAC gnomAD
CA830269 rs34055078	69	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA340150810 rs1248413454	72	K>E		No	ClinGen gnomAD
TCGA novel	73	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340150844 rs1266315683	74	Q>E		No	ClinGen gnomAD
CA830270 rs746861287	81	A>V		No	ClinGen ExAC gnomAD
CA340150982 rs1286790252	82	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA21847744 rs370701403	83	P>T		No	ClinGen ESP TOPMed
TCGA novel	86	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340151044 rs1188551035	87	I>V		No	ClinGen gnomAD
CA340151063 rs1245661501	88	T>I		No	ClinGen gnomAD
rs375295647 CA830272	89	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs772825030 CA830275	92	D>A		No	ClinGen ExAC TOPMed gnomAD
CA830274 rs769278638	92	D>N		No	ClinGen ExAC gnomAD
rs769278638 CA340151101	92	D>Y		No	ClinGen ExAC gnomAD
rs762418210 CA830276	93	S>G		No	ClinGen ExAC gnomAD
CA340151133 rs1353816621	94	P>S		No	ClinGen TOPMed
CA830277 rs768079492	95	K>E		No	ClinGen ExAC gnomAD
rs753187582 CA830278	97	A>P		No	ClinGen ExAC TOPMed gnomAD
CA340151179 rs1466680222	97	A>V		No	ClinGen TOPMed
rs761111580 CA830279	99	C>S		No	ClinGen ExAC gnomAD
rs764552943 CA830280	99	C>W		No	ClinGen ExAC gnomAD
rs761111580 CA340151206	99	C>Y		No	ClinGen ExAC gnomAD
CA340151261 rs1363095438	104	G>R		No	ClinGen TOPMed gnomAD
rs1397812741 CA340151268	104	G>V		No	ClinGen TOPMed gnomAD
CA830282 rs757548868	105	L>P		No	ClinGen ExAC TOPMed
CA830285 rs201278828	109	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA830284 rs201278828	109	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA340151329 rs1557732378	110	A>T		No	ClinGen Ensembl
rs201508155 CA21847844	110	A>V		No	ClinGen TOPMed gnomAD
CA340151349 rs1262851225	111	P>L		No	ClinGen gnomAD
CA830286 rs545871679	112	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA830287 rs746951113	112	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs545871679 CA340151353	112	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs781060883 CA21847856	113	L>M		No	ClinGen ExAC TOPMed gnomAD
CA340151362 rs781060883	113	L>V		No	ClinGen ExAC TOPMed gnomAD
rs374619961 CA830290	114	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs575813013 CA830292	114	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374619961 CA340151371	114	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs374619961 CA830291	114	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1183605249 CA340151391 CA340151390	115	M>I		No	ClinGen TOPMed gnomAD
CA830293 rs748855003	117	M>I		No	ClinGen ExAC gnomAD
CA830294 rs749516894	120	T>A		No	ClinGen ExAC TOPMed gnomAD
CA340151430 CA340151429 rs199821128	121	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA830295 rs953600977	121	Y>C		No	ClinGen TOPMed gnomAD
CA830298 rs201977457	123	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA830299 rs764488250	124	I>M		No	ClinGen ExAC gnomAD
rs1466495346 CA340151445	124	I>V		No	ClinGen gnomAD
rs1394506328 CA340151476	128	T>I		No	ClinGen gnomAD
rs1290487288 CA340151485	130	M>L		No	ClinGen gnomAD
CA21847912 rs958188110	131	A>V		No	ClinGen TOPMed
CA830302 rs765557617	134	A>V		No	ClinGen ExAC gnomAD
rs988423579 CA21847927	136	F>C		No	ClinGen TOPMed
rs541019832 CA830305	138	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA21847973 rs949639666	141	G>R		No	ClinGen TOPMed
CA340151616 rs1252031885	141	G>V		No	ClinGen gnomAD
CA21847982 rs1026606926	142	G>R		No	ClinGen TOPMed gnomAD
rs376744329 CA830307	144	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs771995746 CA21848000	145	W>*		No	ClinGen TOPMed
CA830308 rs754988136	146	G>V		No	ClinGen ExAC gnomAD
CA830309 rs780956418	148	A>D		No	ClinGen ExAC TOPMed gnomAD
rs780956418 CA340151711	148	A>V		No	ClinGen ExAC TOPMed gnomAD
CA830311 rs755847755	151	E>G		No	ClinGen ExAC TOPMed gnomAD
rs748041227 CA830310	151	E>K		No	ClinGen ExAC TOPMed gnomAD
rs779884940 CA21848013	152	G>D		No	ClinGen Ensembl
rs777484514 CA830312	153	S>G		No	ClinGen ExAC TOPMed gnomAD
CA340151790 rs1557732513	154	P>L		No	ClinGen Ensembl
CA830313 rs748942923	156	K>Q		No	ClinGen ExAC gnomAD
CA340151845 rs1306494552	157	P>L		No	ClinGen gnomAD
rs200303361 CA830314	159	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs200303361 CA830315	159	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs745339030 CA340151921	160	L>F		No	ClinGen ExAC TOPMed gnomAD
rs745339030 CA830316	160	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1220308676 CA340152034	164	S>I		No	ClinGen gnomAD
rs1373503510 CA340152063	165	S>N		No	ClinGen gnomAD
CA340152086 rs1286687606	165	S>R		No	ClinGen TOPMed
CA830317 rs559706536	167	A>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	168	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340152199 rs1569926878	170	F>C		No	ClinGen Ensembl
rs911957543 CA340152277	173	W>*		No	ClinGen Ensembl
rs911957543 CA21848079	173	W>C		No	ClinGen Ensembl
rs1429141165 CA340152266	173	W>S		No	ClinGen TOPMed
rs765703063 CA830320	174	F>I		No	ClinGen ExAC gnomAD
rs765703063 CA830321	174	F>V		No	ClinGen ExAC gnomAD
rs1293647834 CA340152396	176	F>C		No	ClinGen gnomAD
CA340152440 rs1344959603	178	I>T		No	ClinGen TOPMed
CA830323 rs766684438	180	E>K		No	ClinGen ExAC gnomAD
rs542990570 CA21848095	181	R>S		No	ClinGen Ensembl
CA340152520 rs1557732583	182	L>V		No	ClinGen Ensembl
CA340152544 rs1488708540	183	S>N		No	ClinGen gnomAD
TCGA novel	186	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs551850417 CA21848112	186	I>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs201332895 CA830324	188	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA21848120 rs760503617	189	V>L		No	ClinGen Ensembl
rs1383885262 CA340152671	190	I>T		No	ClinGen TOPMed
rs1557732621 CA340152692	191	M>T		No	ClinGen Ensembl
CA830326 rs372308151	192	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA340152732 rs1390878410	193	M>V		No	ClinGen gnomAD
CA830328 rs752589706	201	L>I		No	ClinGen ExAC gnomAD
CA830329 rs756011175	202	F>L		No	ClinGen ExAC TOPMed gnomAD
rs777574511 CA830331	205	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1485451442 CA340152939	206	H>P		No	ClinGen TOPMed
rs1485451442 CA340152943	206	H>R		No	ClinGen TOPMed
rs1218474153 CA340152958	207	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA830332 rs749061812	210	W>*		No	ClinGen ExAC gnomAD
CA340153023 rs749061812	210	W>C		No	ClinGen ExAC gnomAD
rs1225691239 CA340153032	211	F>Y		No	ClinGen gnomAD
rs756946219 CA830333	213	A>S		No	ClinGen ExAC gnomAD
CA340153098 rs1557732668	215	R>K		No	ClinGen Ensembl
rs1263461654 CA340153107	215	R>S		No	ClinGen gnomAD
CA340153109 rs1466152511	216	I>L		No	ClinGen gnomAD
rs1042275923 CA21848203	218	V>G		No	ClinGen Ensembl
rs1189204256 CA340153166	219	T>I		No	ClinGen gnomAD
rs778533876 CA830335	224	F>L		No	ClinGen ExAC gnomAD
CA340153238 rs1557732692	225	S>P		No	ClinGen Ensembl
CA340153249 rs1448977665	226	F>L		No	ClinGen gnomAD
rs200474067 CA830336	230	L>S		No	ClinGen 1000Genomes ExAC gnomAD
COSM3419279 rs1557732698 CA340153320	231	V>L	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs939166776 CA21848216	232	V>A		No	ClinGen TOPMed
CA340153349 rs1213602301	233	K>E		No	ClinGen TOPMed
CA340153370 rs1416184001	234	S>C		No	ClinGen TOPMed gnomAD
CA340153416 rs1406182709	236	F>C		No	ClinGen gnomAD
rs901103428 CA21848217	236	F>L		No	ClinGen TOPMed
rs774540946	240	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA830339 rs779554888	241	H>L		No	ClinGen ExAC gnomAD
CA340153530 rs748636972	243	R>I		No	ClinGen ExAC TOPMed gnomAD
rs748636972 CA830340	243	R>K		No	ClinGen ExAC TOPMed gnomAD
CA340153551 rs1459281543	245	G>D		No	ClinGen gnomAD
rs770373213 CA830341	246	Q>E		No	ClinGen ExAC
rs1210661234 CA340153576	247	V>I		No	ClinGen gnomAD

No associated diseases with Q5SWH9

No regional properties for Q5SWH9

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q5SWH9

Functions

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

1 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.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

No homologous proteins in AiPD

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

10	20	30	40	50	60
MLRFIQKFSQ	ASSKILKYSF	PVGLRTSRTD	ILSLKMSLQQ	NFSPCPRPWL	SSSFPAYMSK
70	80	90	100	110	120
TQCYHTSPCS	FKKQQKQALL	ARPSSTITYL	TDSPKPALCV	TLAGLIPFVA	PPLVMLMTKT
130	140	150	160	170	180
YIPILAFTQM	AYGASFLSFL	GGIRWGFALP	EGSPAKPDYL	NLASSAAPLF	FSWFAFLISE
190	200	210	220	230	240
RLSEAIVTVI	MGMGVAFHLE	LFLLPHYPNW	FKALRIVVTL	LATFSFIITL	VVKSSFPEKG

HKRPGQV