AiPD: Autoinhibited Protein Database

Q9H813

Gene name	PACC1
Protein name	Proton-activated chloride channel
Names	PAC, hPAC, Acid-sensitive outwardly-rectifying anion channel, ASOR, Proton-activated outwardly rectifying anion channel, PAORAC, Transmembrane protein 206, hTMEM206
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55248
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-76 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-76 (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

8 structures for Q9H813

Entry ID	Method	Resolution	Chain	Position	Source
7JNA	EM	360 A	A/B/C	1-350	PDB
7JNC	EM	373 A	A/B/C	1-350	PDB
7SQF	EM	310 A	A/B/C	1-350	PDB
7SQG	EM	260 A	A/B/C	1-350	PDB
7SQH	EM	250 A	A/B/C	1-350	PDB
8EQ4	EM	271 A	A/B/C	1-350	PDB
8FBL	EM	270 A	A/B/C	57-339	PDB
AF-Q9H813-F1	Predicted				AlphaFoldDB

290 variants for Q9H813

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs760353894 CA36839916	2	I>F		No	ClinGen Ensembl
rs534399853 CA1384220	3	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344772243 rs1329374582	6	R>G		No	ClinGen gnomAD
CA1384219 rs373842963	8	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs756361683 CA344772195	9	S>C		No	ClinGen ExAC TOPMed gnomAD
rs756361683 CA1384217	9	S>F		No	ClinGen ExAC TOPMed gnomAD
rs750666229 CA1384216	10	Y>C		No	ClinGen ExAC gnomAD
rs761974776 CA1384214	11	Q>R		No	ClinGen ExAC gnomAD
CA1384213 rs141336201	12	E>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	12	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344770385 rs1357710544	14	S>I		No	ClinGen TOPMed gnomAD
CA344770388 rs1558184747	14	S>R		No	ClinGen Ensembl
rs1406845234 CA344770361	16	E>K		No	ClinGen gnomAD
CA344770339 rs1158773468	17	L>V		No	ClinGen gnomAD
CA1384177 rs777903864	18	V>F		No	ClinGen ExAC TOPMed gnomAD
CA1384176 rs758485917	19	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	22	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468823031 CA344770269	22	E>K		No	ClinGen gnomAD
rs752725305 CA1384174	23	N>S		No	ClinGen ExAC gnomAD
CA36837959 rs895606916	29	E>K		No	ClinGen gnomAD
rs1274269762 CA344770115	30	Q>E		No	ClinGen gnomAD
CA36837954 rs141225063	30	Q>R		No	ClinGen 1000Genomes gnomAD
TCGA novel	31	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA36837948 rs1009675897	32	K>E		No	ClinGen TOPMed
CA344770066 rs893880550	32	K>R		No	ClinGen TOPMed gnomAD
CA36837936 rs893880550	32	K>T		No	ClinGen TOPMed gnomAD
rs540532429 COSM903568 CA1384168	34	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs370061237 CA36837930	34	T>S		No	ClinGen ESP TOPMed gnomAD
CA344770015 rs1391700569	35	V>F		No	ClinGen gnomAD
CA1384166 rs763791736	35	V>G		No	ClinGen ExAC gnomAD
rs1172434338 CA344770004	36	R>G		No	ClinGen gnomAD
rs1044326699 CA36837921	38	Q>H		No	ClinGen TOPMed gnomAD
rs1448711111 CA344769964	38	Q>R		No	ClinGen gnomAD
rs774836313 CA1384164	39	G>S		No	ClinGen ExAC gnomAD
CA1384163 rs769822957	40	P>L		No	ClinGen ExAC TOPMed gnomAD
CA344769892 rs1173633166	41	G>D		No	ClinGen TOPMed
rs776557783 CA1384161	41	G>R		No	ClinGen ExAC gnomAD
TCGA novel CA344769885 rs1173633166	41	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
rs770634020 CA1384160	42	I>N		No	ClinGen ExAC gnomAD
CA344769879 rs1404950467	42	I>V		No	ClinGen TOPMed
CA344769837 rs1296132668	44	P>S		No	ClinGen gnomAD
rs149933632 CA1384140	45	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs113332920 CA1384139	47	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1229634 CA1384137 rs370542732	49	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1384135 rs749341289	50	S>F		No	ClinGen ExAC gnomAD
CA1384133 rs756657415	51	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1384132 rs750871406	51	A>V		No	ClinGen ExAC TOPMed gnomAD
CA344783325 rs1272658069	56	R>C		No	ClinGen TOPMed gnomAD
CA1384130 rs200927148	56	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1384131 rs200927148	56	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344783292 rs1304178258	58	S>G		No	ClinGen TOPMed
rs1336443334 CA344783264	58	S>R		No	ClinGen TOPMed gnomAD
CA1384127 rs139687105	65	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs577787447 CA1384126	67	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1393482660 CA344782972	70	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1384123 rs773047642	71	I>T		No	ClinGen ExAC gnomAD
CA1384122 rs771847878	74	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA344782845 rs771847878	74	Y>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	75	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1384119 rs560672145	78	M>V		No	ClinGen ExAC gnomAD
rs1189999733 CA344782626	80	V>G		No	ClinGen gnomAD
rs201821544 CA1384118	80	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344782617 rs1254057382	81	A>P		No	ClinGen gnomAD
COSM903567 rs746376616 CA1384115	82	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA344782509 CA344782510 rs792449	83	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1558172832 CA344782504	84	L>V		No	ClinGen Ensembl
CA344782478 rs1424278429	85	V>I		No	ClinGen TOPMed
rs1308941906 CA344782416	86	Y>C		No	ClinGen TOPMed
rs1308456231 CA344782377	87	R>Q		No	ClinGen TOPMed gnomAD
rs143150392 CA36844462	87	R>W		No	ClinGen ESP gnomAD
CA1384112 rs537051728	88	T>N		No	ClinGen 1000Genomes ExAC gnomAD
CA344782257 rs1304036635	92	F>I		No	ClinGen TOPMed gnomAD
COSM1338666 rs754623496 CA1384110	93	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1384109 rs373278612	93	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373278612 CA344782209	93	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1384105 rs750362348	98	H>P		No	ClinGen ExAC TOPMed gnomAD
rs756108990 CA1384106	98	H>Y		No	ClinGen ExAC gnomAD
CA344782120 rs1396263307	99	P>H		No	ClinGen gnomAD
CA344782127 rs1396263307	99	P>R		No	ClinGen gnomAD
rs901260016 CA36844438	102	S>F		No	ClinGen TOPMed gnomAD
CA344782082 rs1448120518	102	S>P		No	ClinGen gnomAD
CA344782054 rs1571652913	103	V>L		No	ClinGen Ensembl
CA1384104 rs761545851	105	Y>*		No	ClinGen ExAC gnomAD
rs1042194262 CA36844428	107	E>A		No	ClinGen Ensembl
rs774164790 CA1384102	109	D>G		No	ClinGen ExAC
CA1384101 rs148063790	110	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs560016075 CA1384100 COSM1229632	110	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA1384098 rs148827166	111	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1384097 rs148827166	111	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs772948888 CA36843829	115	G>A		No	ClinGen TOPMed gnomAD
rs772948888 CA344781019	115	G>D		No	ClinGen TOPMed gnomAD
CA344780968 rs1571650726	117	A>S		No	ClinGen Ensembl
rs1571650718 CA344780948	117	A>V		No	ClinGen Ensembl
CA1384078 rs776817256	119	Y>C		No	ClinGen ExAC gnomAD
CA1384077 rs771386337	120	P>H		No	ClinGen ExAC gnomAD
CA344780823 rs771386337	120	P>R		No	ClinGen ExAC gnomAD
rs1315492699 CA344780786	121	G>D		No	ClinGen TOPMed
rs369443875 CA1384075	121	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1384074 rs546059287	122	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA344780733 rs1257646458	123	A>S		No	ClinGen gnomAD
rs1014366238 CA36843817	123	A>V		No	ClinGen Ensembl
CA1384071 rs769406850	125	L>F		No	ClinGen ExAC TOPMed gnomAD
rs748452438 CA1384073	125	L>S		No	ClinGen ExAC TOPMed gnomAD
CA1384070 rs202036707	127	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA344780612 rs1477446297	128	C>Y		No	ClinGen TOPMed
CA36843790 rs1006449616	133	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs757211734 CA1384068	134	V>G		No	ClinGen ExAC gnomAD
CA1384069 rs780741895	134	V>I		No	ClinGen ExAC gnomAD
rs1232930573 CA344780436	135	I>F		No	ClinGen gnomAD
CA344780397 rs1335778775	137	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1384067 rs751523301	139	T>I		No	ClinGen ExAC TOPMed gnomAD
CA344780341 rs1236565547	141	P>A		No	ClinGen gnomAD
CA1384066 rs777515858	142	G>S		No	ClinGen ExAC TOPMed gnomAD
rs758237878 CA1384065	143	Q>L		No	ClinGen ExAC gnomAD
CA36843763 rs752497227	144	P>A		No	ClinGen ExAC TOPMed gnomAD
rs140936184 CA1384063 COSM1229633	144	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs752497227 CA1384064 COSM903566	144	P>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA344780244 rs752497227	144	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	146	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1384061 rs185544901	146	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1347797692 CA344780159	147	M>K		No	ClinGen gnomAD
rs1462268815 CA344780164	147	M>V		No	ClinGen gnomAD
CA1384060 rs766475406	148	N>S		No	ClinGen ExAC gnomAD
CA344780088 rs1468217544	150	T>A		No	ClinGen gnomAD
rs760604271 CA1384059	151	T>A		No	ClinGen ExAC gnomAD
rs1239739841 CA344780053	151	T>N		No	ClinGen TOPMed
rs1292902778 CA344780025	152	Q>H		No	ClinGen TOPMed
CA344780008 rs1182457253	153	R>M		No	ClinGen gnomAD
rs142753519 CA36843736	157	T>A		No	ClinGen ESP TOPMed gnomAD
rs148505592 CA1384058	157	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA36843726 rs913093533	159	P>A		No	ClinGen TOPMed
rs1275355055 CA344779909	159	P>L		No	ClinGen gnomAD
CA344779911 rs913093533	159	P>T		No	ClinGen TOPMed
CA36843716 rs1054350191	160	F>C		No	ClinGen TOPMed gnomAD
rs1203546007 CA344779902	160	F>I		No	ClinGen gnomAD
CA1384054 rs769494423	162	N>K		No	ClinGen ExAC gnomAD
CA1384055 rs147183323	162	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1280158644 CA344779870	162	N>Y		No	ClinGen gnomAD
rs745515957 CA1384053	163	Q>*		No	ClinGen ExAC gnomAD
CA1384052 rs780645684	163	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763250861 CA1384034	171	V>I		No	ClinGen ExAC gnomAD
TCGA novel	171	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1435202221 CA344778581	172	Q>*		No	ClinGen TOPMed gnomAD
CA344778539 rs1248532789	173	G>V		No	ClinGen TOPMed
rs1427042473 CA344778531	174	P>L		No	ClinGen gnomAD
CA1384032 rs757561802	175	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs776370981 CA1384033	175	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1384030 rs746565636	177	V>L		No	ClinGen ExAC gnomAD
rs772190370 CA36841168	180	R>L		No	ClinGen ExAC TOPMed gnomAD
rs772190370 CA1384028 COSM3735952	180	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1384029 rs772572594	180	R>W	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA36841165 rs201820675	183	V>D		No	ClinGen gnomAD
rs1271475463 CA344778396	183	V>I		No	ClinGen TOPMed gnomAD
rs1271475463 CA344778395	183	V>L		No	ClinGen TOPMed gnomAD
rs1571641889 CA344778351	186	Q>*		No	ClinGen Ensembl
CA1384021 rs138060998	188	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344778315 rs138060998	188	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141387916 CA1384020 COSM1295845	188	R>H	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs189375185 CA1384019	189	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752077661 CA1384018	190	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1384016 rs769523831	191	K>E		No	ClinGen ExAC gnomAD
rs775683301 CA1384015	191	K>R		No	ClinGen ExAC TOPMed gnomAD
CA344778222 rs1302902335	193	S>R		No	ClinGen TOPMed
rs766102818 CA1384014	193	S>T		No	ClinGen ExAC gnomAD
CA1384012 CA1384013 rs772841687	194	E>D		No	ClinGen ExAC gnomAD
rs771712177 CA1384011	195	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA1384008 rs754371785	196	F>L		No	ClinGen ExAC TOPMed gnomAD
rs754371785 CA1384009	196	F>V		No	ClinGen ExAC TOPMed gnomAD
CA1384006 rs749158185	197	S>G		No	ClinGen ExAC gnomAD
CA1384005 COSM1501120 rs778308357	198	A>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1332271349 CA344778104	199	I>M		No	ClinGen gnomAD
CA1384003 rs746082257	199	I>T		No	ClinGen ExAC TOPMed gnomAD
CA344778091 rs1281637382	200	D>V		No	ClinGen TOPMed gnomAD
rs370778915 CA1384002	203	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs757354499 CA1384000	208	Q>R		No	ClinGen ExAC gnomAD
CA1383999 rs751600942	209	E>K		No	ClinGen ExAC gnomAD
CA36841071 rs764629572 CA1383998	210	F>L		No	ClinGen ExAC
TCGA novel	210	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459649772 CA344777902	212	Q>*		No	ClinGen TOPMed gnomAD
CA36841068 rs916157116	212	Q>H		No	ClinGen gnomAD
rs142741395 CA1383995	212	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs146460468 CA1383980	213	S>R		No	ClinGen ESP TOPMed gnomAD
CA344777463 rs1218452985	214	P>L		No	ClinGen TOPMed
rs1279978400 CA344777458	215	N>D		No	ClinGen Ensembl
rs548426975 CA1383978	217	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548426975 CA1383977	217	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781428813 CA1383976	218	G>D		No	ClinGen ExAC gnomAD
CA1383975 rs771113840	220	M>L		No	ClinGen ExAC TOPMed gnomAD
rs149193929 CA1383974	220	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA36839920 rs758690015	221	Q>*		No	ClinGen gnomAD
rs750549003 CA36839914	223	C>S		No	ClinGen Ensembl
rs750549003 CA344777367	223	C>Y		No	ClinGen Ensembl
rs183937701 CA1383973	224	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344777358 rs1370006971	224	E>Q		No	ClinGen gnomAD
CA36839908 rs370826553 COSM1242938	225	S>I	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs1571637757 CA344777335	226	A>T		No	ClinGen Ensembl
CA1383972 rs753145538	227	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs753145538 CA1383971	227	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1475065572 CA344777290	230	W>G		No	ClinGen gnomAD
CA36839888 rs376399739	234	G>R		No	ClinGen ESP
rs779416338 CA1383970	234	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1434594453 CA344777191	235	G>C		No	ClinGen TOPMed gnomAD
rs982737248 CA344777181	235	G>D		No	ClinGen TOPMed gnomAD
CA344777187 rs1434594453	235	G>S		No	ClinGen TOPMed gnomAD
rs982737248 CA36839878	235	G>V		No	ClinGen TOPMed gnomAD
rs1213589693 CA344777176	236	F>L		No	ClinGen TOPMed gnomAD
CA1383969 rs566127319	237	R>C		No	ClinGen ExAC gnomAD
COSM1338664 rs150060518 CA1383968	237	R>H	large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs201124115 CA1383966	239	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344777108 rs1358916064	239	W>*		No	ClinGen TOPMed
rs1488338727 CA344777101	240	V>F		No	ClinGen gnomAD
rs1488338727 CA344777102	240	V>L		No	ClinGen gnomAD
TCGA novel	245	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1383961 rs762468789	248	K>E		No	ClinGen ExAC gnomAD
rs368853770 CA1383958	253	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs373475631 COSM3418711 CA1383959	253	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs776393267 CA1383957	254	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1305098889 CA344776266	257	E>G		No	ClinGen TOPMed gnomAD
CA344776221 rs747223607	259	R>G		No	ClinGen ExAC TOPMed gnomAD
CA344776209 rs777902089	259	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1383953 rs777902089	259	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs747223607 CA1383954 COSM1560297	259	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs774466596 CA1383931	262	T>I		No	ClinGen ExAC TOPMed gnomAD
rs774466596 CA36839006	262	T>R		No	ClinGen ExAC TOPMed gnomAD
CA344775873 rs1267258835	263	S>N		No	ClinGen gnomAD
CA36839000 rs1020051097	267	Y>C		No	ClinGen gnomAD
CA36838997 rs1006863673	268	I>T		No	ClinGen TOPMed gnomAD
rs749818718 CA1383929	269	D>E		No	ClinGen ExAC gnomAD
rs1449549325 CA344775738	271	R>S		No	ClinGen gnomAD
TCGA novel	272	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1383927 rs780651393	275	K>N		No	ClinGen ExAC gnomAD
rs1323499569 CA344775652	276	K>N		No	ClinGen gnomAD
TCGA novel	276	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1558165563 CA344775640	277	S>I		No	ClinGen Ensembl
rs372765144 CA344775601	279	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA36838984 rs558736345	279	Q>L		No	ClinGen 1000Genomes
rs1164540133 CA344775542	282	F>S		No	ClinGen gnomAD
TCGA novel	283	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344775463 rs1179176706	287	W>G		No	ClinGen gnomAD
CA1383922 rs777334103	289	D>A		No	ClinGen ExAC gnomAD
CA1383921 rs151243413	294	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA344775325 rs1571634337	295	V>I		No	ClinGen Ensembl
TCGA novel	296	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1383891 rs756023068	298	I>K		No	ClinGen ExAC gnomAD
CA344773612 rs1373620749	299	V>A		No	ClinGen gnomAD
rs1401282645 CA344773618	299	V>L		No	ClinGen gnomAD
rs75113230 CA36831584	300	T>S		No	ClinGen Ensembl
CA344773572 rs1333420850	302	N>S		No	ClinGen gnomAD
rs1414826715 CA344773527	304	W>C		No	ClinGen gnomAD
rs750242868 CA1383890	305	N>K		No	ClinGen ExAC TOPMed gnomAD
CA344773472 rs1477597190	307	I>T		No	ClinGen gnomAD
TCGA novel	308	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	308	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1196004170 CA344773443	309	L>F		No	ClinGen TOPMed gnomAD
CA344773450 rs1196004170 COSM463901	309	L>I	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA1383888 rs761457991	311	C>S		No	ClinGen ExAC gnomAD
CA344773380 rs1257515243	312	G>D		No	ClinGen gnomAD
CA344773362 rs200795875	313	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1383886 rs200795875	313	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	316	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1383884 rs775691932	318	F>L		No	ClinGen ExAC gnomAD
rs775691932 CA36831555	318	F>V		No	ClinGen ExAC gnomAD
rs1316972302 CA344772695	321	A>T		No	ClinGen gnomAD
CA1383883 rs192890813	322	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs894589240 CA36831552	326	L>P		No	ClinGen Ensembl
TCGA novel	326	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1383881 rs760087895	328	I>L		No	ClinGen ExAC TOPMed gnomAD
rs986897990 CA36831546	328	I>T		No	ClinGen TOPMed gnomAD
rs1323991092 CA344772549	329	K>T		No	ClinGen gnomAD
rs776931830 CA1383880	331	M>K		No	ClinGen ExAC gnomAD
rs771335748 CA1383879	332	I>M		No	ClinGen ExAC gnomAD
COSM32211 VAR_035847 rs1034429230 CA36831518	336	K>N	breast a breast cancer sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD
CA344772457 rs1161051802	336	K>Q		No	ClinGen TOPMed
CA1383878 COSM1338661 rs747285739	336	K>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1474271713 CA344772418	338	Y>C		No	ClinGen gnomAD
rs1474271713 CA344772420	338	Y>S		No	ClinGen gnomAD
CA344772408 rs1413095313	339	L>V		No	ClinGen gnomAD
rs1182979163 CA344772398	340	K>Q		No	ClinGen gnomAD
TCGA novel	341	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1383875 rs778564779	343	G>R		No	ClinGen ExAC gnomAD
CA344772358 rs778564779	343	G>S		No	ClinGen ExAC gnomAD
CA344772317 rs1408553703	346	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA344772312 rs748844764	346	T>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1383873 COSM678714 rs748844764	346	T>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1558159981 CA344772294	347	S>N		No	ClinGen Ensembl
rs756072956 CA1383871	348	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA344772229 rs1286785678	349	I>T		No	ClinGen TOPMed
rs1332056970 CA344772253	349	I>V		No	ClinGen gnomAD
CA1383870 rs750389531	350	S>R		No	ClinGen ExAC gnomAD
TCGA novel	351	S>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q9H813

No regional properties for Q9H813

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9H813

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-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
cell surface	The external part of the cell wall and/or plasma membrane.
chloride channel complex	An ion channel complex through which chloride ions pass.
integral component of plasma membrane	The component of the plasma 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.

1 GO annotations of molecular function

Name	Definition
pH-gated chloride channel activity	A gated channel activity that enables the transmembrane transfer of a chloride ion by a channel that opens in response to a change in pH.

1 GO annotations of biological process

Name	Definition
chloride transport	The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2KHV2	PACC1	Proton-activated chloride channel	Bos taurus (Bovine)	PR
Q9D771	Pacc1	Proton-activated chloride channel	Mus musculus (Mouse)	PR
Q66H28	Pacc1	Proton-activated chloride channel	Rattus norvegicus (Rat)	PR
Q0V9Z3	pacc1	Proton-activated chloride channel	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MIRQERSTSY	QELSEELVQV	VENSELADEQ	DKETVRVQGP	GILPGLDSES	ASSSIRFSKA
70	80	90	100	110	120
CLKNVFSVLL	IFIYLLLMAV	AVFLVYRTIT	DFREKLKHPV	MSVSYKEVDR	YDAPGIALYP
130	140	150	160	170	180
GQAQLLSCKH	HYEVIPPLTS	PGQPGDMNCT	TQRINYTDPF	SNQTVKSALI	VQGPREVKKR
190	200	210	220	230	240
ELVFLQFRLN	KSSEDFSAID	YLLFSSFQEF	LQSPNRVGFM	QACESAYSSW	KFSGGFRTWV
250	260	270	280	290	300
KMSLVKTKEE	DGREAVEFRQ	ETSVVNYIDQ	RPAAKKSAQL	FFVVFEWKDP	FIQKVQDIVT
310	320	330	340
ANPWNTIALL	CGAFLALFKA	AEFAKLSIKW	MIKIRKRYLK	RRGQATSHIS