AiPD: Autoinhibited Protein Database

Q96QA5

Gene name	GSDMA
Protein name	Gasdermin-A
Names	Gasdermin-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:284110
EC number
Protein Class

Descriptions

Gasdermin proteins are a pore-forming protein causing membrane permeabilization and pyroptosis, and functions downstream of the inflammatory caspases. In human Gasdermin-D protein (GSDMD, P57764), its C-terminal gasdermin domain adopts an intramolecular complex with the N-terminal domain, which inhibits the activation of the N-terminal gasdermin domain. The N- and C-terminal gasdermin domains of GSDMA can interact with each other, implying a similar autoinhibitory mechanism.

Autoinhibitory domains (AIDs)

254-418 (C-terminal gasdermin domain) SS

Target domain	1-251 (N-terminal gasdermin domain)
Relief mechanism	Cleavage
Assay

AID

254-418 (C-terminal gasdermin domain)

Target domain

1-251 (N-terminal gasdermin domain)

Relief mechanism

Cleavage (Caspases-induced cleavage)

Assay

Accessory elements

No accessory elements

References

Shi J et al. (2015) "Cleavage of GSDMD by inflammatory caspases determines pyroptotic cell death", Nature, 526, 660-5

Ding J et al. (2016) "Pore-forming activity and structural autoinhibition of the gasdermin family", Nature, 535, 111-6

Autoinhibited structure

Activated structure

1 structures for Q96QA5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96QA5-F1	Predicted				AlphaFoldDB

382 variants for Q96QA5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA399272090 rs1216098927	2	T>A		No	ClinGen gnomAD
CA8536741 rs191833662	2	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8536743 rs763714085	3	M>T		No	ClinGen ExAC gnomAD
CA8536742 rs377712685	3	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1461360616 CA399272180	4	F>L		No	ClinGen gnomAD
CA399272183 rs1182490157	5	E>K		No	ClinGen gnomAD
CA8536745 rs370992840	7	V>I		No	ClinGen ESP ExAC gnomAD
rs1598301923 CA399272254	8	T>P		No	ClinGen Ensembl
CA399272268 rs373982780	9	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8536747 rs781053660	9	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8536746 rs373982780	9	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs750221781 CA399272282	10	A>S		No	ClinGen ExAC gnomAD
rs750221781 CA8536748	10	A>T		No	ClinGen ExAC gnomAD
rs755902839 CA8536749	10	A>V		No	ClinGen ExAC TOPMed gnomAD
rs772130959 CA8536752	12	A>D		No	ClinGen ExAC gnomAD
rs780003355 CA8536751	12	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8536750 rs780003355	12	A>T		No	ClinGen ExAC TOPMed gnomAD
CA399272343 rs1269864904	13	R>K		No	ClinGen gnomAD
CA399272378 rs1339545471	14	Q>E		No	ClinGen gnomAD
rs777833795 CA8536753	14	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs747158297 CA8536754	16	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1598301973 CA399272470	16	N>T		No	ClinGen Ensembl
CA290468166 rs1025865934	17	P>R		No	ClinGen TOPMed
rs769506892 CA8536755	18	R>*		No	ClinGen ExAC TOPMed gnomAD
VAR_035010 rs3894194 CA8536756	18	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA399272571 rs1241205798	20	D>G		No	ClinGen gnomAD
CA399272578 rs1241205798	20	D>V		No	ClinGen gnomAD
rs759910063 CA8536757	23	P>L		No	ClinGen ExAC gnomAD
CA399272640 rs1480365419	24	L>V		No	ClinGen gnomAD
CA399272684 rs1171344041	25	D>N		No	ClinGen gnomAD
rs1410205749 CA399272736	27	L>F		No	ClinGen gnomAD
rs1401383608 CA399272755	28	I>F		No	ClinGen gnomAD
rs370430499 CA399272761	28	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs776013745 CA8536759	28	I>N		No	ClinGen ExAC TOPMed gnomAD
rs184267286 CA8536761	29	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8536762 rs751105190 COSM1382906	32	R>C	pancreas large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8536764 rs557854289	32	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8536765 rs557854289	32	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8536763 rs751105190	32	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1457001945 CA399272858	33	F>L		No	ClinGen gnomAD
rs1273027881 CA399272878	34	H>R		No	ClinGen gnomAD
rs1402876832 CA399272891	35	P>A		No	ClinGen TOPMed
rs766102474 CA8536767	36	F>S		No	ClinGen ExAC gnomAD
CA8536768 rs373987630	38	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1224272343 CA399272934	39	V>M		No	ClinGen gnomAD
CA290468227 rs754903776	41	R>S		No	ClinGen ExAC TOPMed gnomAD
rs778879502 CA8536770	42	K>M		No	ClinGen ExAC TOPMed gnomAD
CA399272979 rs1197316332	43	R>K		No	ClinGen gnomAD
CA399273004 rs1235150610	45	S>T		No	ClinGen gnomAD
rs747066041 CA399273017	46	T>K		No	ClinGen ExAC TOPMed gnomAD
CA8536771 rs747066041	46	T>M		No	ClinGen ExAC TOPMed gnomAD
CA8536773 rs781349290	47	L>V		No	ClinGen ExAC gnomAD
rs944562051 CA399273041	48	F>L		No	ClinGen TOPMed gnomAD
CA399273033 rs1164485348	48	F>L		No	ClinGen gnomAD
rs1040279128 CA290468258	49	W>L		No	ClinGen gnomAD
rs1447409122 CA399273047	49	W>R		No	ClinGen TOPMed
CA399273062 rs1442278430	50	G>A		No	ClinGen gnomAD
CA8536775 rs770131950	50	G>R		No	ClinGen ExAC gnomAD
rs1350873269 CA399273069	51	A>P		No	ClinGen gnomAD
CA8536777 rs199741961	52	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs370686535 CA8536776	52	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1208473413 CA399273082	53	Y>H		No	ClinGen gnomAD
rs761368384 CA8536780	54	V>A		No	ClinGen ExAC gnomAD
rs533792064 CA8536779	54	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399273101 rs1446543328	55	R>C		No	ClinGen TOPMed gnomAD
rs767159876 CA8536782	55	R>H		No	ClinGen ExAC TOPMed gnomAD
rs767159876 CA8536781	55	R>L		No	ClinGen ExAC TOPMed gnomAD
CA399273117 rs1384887131	56	T>S		No	ClinGen gnomAD
CA8536784 rs766121214	57	D>N		No	ClinGen ExAC TOPMed gnomAD
rs753561207 CA8536785	58	Y>H		No	ClinGen ExAC gnomAD
CA399273150 rs754816059	59	T>K		No	ClinGen ExAC TOPMed gnomAD
CA8536786 COSM1726446 rs754816059	59	T>M	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1035278136 CA290468320	62	D>N		No	ClinGen Ensembl
rs1339575965 CA399273189	63	V>L		No	ClinGen TOPMed gnomAD
CA399273191 rs1339575965	63	V>M		No	ClinGen TOPMed gnomAD
CA399273215 rs1243055044	64	L>H		No	ClinGen gnomAD
rs757275609 CA8536789	66	P>T		No	ClinGen ExAC gnomAD
CA399273263 rs1256766922	67	G>D		No	ClinGen gnomAD
rs543988848 CA8536791	67	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1026066045 CA290468335	69	S>L		No	ClinGen TOPMed gnomAD
CA8536792 rs756280008	70	P>S		No	ClinGen ExAC gnomAD
CA399273300 rs1242739508	72	D>N		No	ClinGen gnomAD
rs750451624 CA8536809	73	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8536810 rs756261222	74	T>I		No	ClinGen ExAC TOPMed gnomAD
rs756261222 CA399273428	74	T>R		No	ClinGen ExAC TOPMed gnomAD
CA8536812 rs533551153	79	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1380386430 CA399273702	85	L>V		No	ClinGen gnomAD
rs1568127719 CA399273749	87	T>N		No	ClinGen Ensembl
rs755337499 CA8536813	88	R>*		No	ClinGen ExAC gnomAD
rs779425849 CA290468499	88	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8536814 rs779425849	88	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8536815 rs748588532	89	V>A		No	ClinGen ExAC gnomAD
rs772442575 CA8536816	91	G>R		No	ClinGen ExAC gnomAD
rs781106611 CA399273859	92	D>E		No	ClinGen TOPMed gnomAD
rs781106611 CA290468501	92	D>E		No	ClinGen TOPMed gnomAD
rs1355680462 CA399273845	92	D>N		No	ClinGen TOPMed
CA8536819 rs192169308	95	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778393872 CA8536818	95	V>I		No	ClinGen ExAC gnomAD
rs200468681 CA8536820	96	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs140044904 CA8536821	98	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399274027 rs1598302450	99	V>A		No	ClinGen Ensembl
rs1598302458 CA399274079	101	V>G		No	ClinGen Ensembl
rs372605150 CA290468509	101	V>L		No	ClinGen ESP TOPMed gnomAD
rs1487429893 CA399274117	102	K>R		No	ClinGen gnomAD
rs775254732 CA8536824	103	G>R		No	ClinGen ExAC gnomAD
CA399274130 rs775254732	103	G>R		No	ClinGen ExAC gnomAD
CA8536825 rs762787346	103	G>V		No	ClinGen ExAC gnomAD
rs375928728 CA8536826	104	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA290468518 rs895286936	106	G>E		No	ClinGen TOPMed
rs577726601 CA8536828	106	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA399274230 rs1598302485	107	L>R		No	ClinGen Ensembl
CA399274221 rs1427068176	107	L>V		No	ClinGen TOPMed
rs754048672 CA8536830	108	S>L		No	ClinGen ExAC gnomAD
CA399274287 rs1598302494	109	Q>P		No	ClinGen Ensembl
CA290468527 rs1043993633	112	T>A		No	ClinGen gnomAD
CA8536832 rs779334794	112	T>I		No	ClinGen ExAC gnomAD
CA399274361 rs1043993633	112	T>P		No	ClinGen gnomAD
CA399274391 rs1399611441	113	L>P		No	ClinGen gnomAD
CA290468533 rs904144523	114	E>G		No	ClinGen Ensembl
rs753087828 CA8536833	114	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1598302511 CA399274449	115	V>G		No	ClinGen Ensembl
CA399274476 rs1568127815	116	Q>*		No	ClinGen Ensembl
CA8536834 rs758837557	119	S>T		No	ClinGen ExAC TOPMed gnomAD
CA290468537 rs201419735	122	P>L		No	ClinGen TOPMed
CA399274624 rs1227970647	122	P>S		No	ClinGen gnomAD
CA399274643 rs1598302525	123	K>Q		No	ClinGen Ensembl
rs770286527 CA8536837	124	A>D		No	ClinGen ExAC gnomAD
CA8536836 rs376644092	124	A>T		No	ClinGen ESP ExAC gnomAD
CA8536838 rs780681456	125	L>P		No	ClinGen ExAC TOPMed gnomAD
CA399274845 rs7212938	128	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8536841 rs7212938	128	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8536842 rs7212938	128	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1244587594 CA399274882	129	Q>*		No	ClinGen gnomAD
CA399274901 rs1472889882	129	Q>P		No	ClinGen TOPMed gnomAD
CA8536843 rs7212944	130	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8536844 rs774099535	131	R>K		No	ClinGen ExAC TOPMed gnomAD
CA399274954 rs1223208255	131	R>W		No	ClinGen gnomAD
rs759648439 CA8536866	132	K>N		No	ClinGen ExAC gnomAD
rs773320595 CA8536865	132	K>T		No	ClinGen ExAC gnomAD
rs1298193722 CA399276563	134	A>T		No	ClinGen gnomAD
rs796653693 CA290470027	135	A>T		No	ClinGen gnomAD
CA399276628 rs1325532088	135	A>V		No	ClinGen TOPMed
rs765429116 CA8536868	138	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1031780496 CA290470031	138	P>S		No	ClinGen TOPMed
CA8536869 rs201877887	139	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs764287794 CA8536871	143	M>I		No	ClinGen ExAC gnomAD
CA8536870 rs763237775	143	M>L		No	ClinGen ExAC TOPMed gnomAD
rs752204334 CA290470038	143	M>T		No	ClinGen Ensembl
rs763237775 CA399276922	143	M>V		No	ClinGen ExAC TOPMed gnomAD
CA399276987 rs1473237538	144	Q>K		No	ClinGen TOPMed
CA399277045 rs1276049904	145	D>V		No	ClinGen gnomAD
CA399277071 rs1318286815	146	Q>K		No	ClinGen gnomAD
CA399277130 rs1262864711	148	E>K		No	ClinGen gnomAD
CA399277186 rs1202194914	150	L>M		No	ClinGen gnomAD
rs372126863 CA8536874	151	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8536876 rs750955710	153	V>A		No	ClinGen ExAC gnomAD
CA399277355 rs1410280569	154	M>T		No	ClinGen gnomAD
rs370195461 CA8536878	156	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs533426001 CA8536879	159	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8536881 rs778477435	163	V>A		No	ClinGen ExAC gnomAD
CA399277688 rs778477435	163	V>G		No	ClinGen ExAC gnomAD
CA399277682 rs1326818361	163	V>I		No	ClinGen TOPMed
rs747943041 CA8536882	164	T>A		No	ClinGen ExAC gnomAD
rs1272506215 CA399277737	165	L>P		No	ClinGen gnomAD
COSM1209096 CA8536884 rs199621529	167	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA399277791 rs373489642	167	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8536885 rs373489642	167	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8536886 rs373489642 COSM1736501	167	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs199501072 CA8536889	169	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1225274940 CA399277911	171	A>V		No	ClinGen gnomAD
rs774472005 CA8536890	172	E>A		No	ClinGen ExAC TOPMed gnomAD
COSM380910 CA290470065 rs972431263	172	E>K	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA8536891 rs566910894	174	C>S		No	ClinGen 1000Genomes ExAC gnomAD
CA8536892 rs767887174	174	C>S		No	ClinGen ExAC TOPMed gnomAD
rs750863795 CA8536893	176	S>F		No	ClinGen ExAC TOPMed gnomAD
rs761166892 CA8536894	177	L>F		No	ClinGen ExAC gnomAD
CA8536897 rs754485271	181	A>T		No	ClinGen ExAC TOPMed gnomAD
CA399278253 rs1198900687	181	A>V		No	ClinGen TOPMed
CA8536898 rs553099772	182	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA399278367 rs1404656309	185	L>R		No	ClinGen TOPMed gnomAD
rs200604711 CA290470341	187	G>A		No	ClinGen Ensembl
CA399279034 rs1334427304	187	G>R		No	ClinGen gnomAD
rs1291480284 CA399279060	188	S>F		No	ClinGen TOPMed
rs866672492 CA290470342	191	H>Y		No	ClinGen Ensembl
rs772405071 CA8536922	193	E>D		No	ClinGen ExAC gnomAD
rs547951619 CA290470346	193	E>K		No	ClinGen Ensembl
rs754332038 CA8536923	194	A>S		No	ClinGen ExAC TOPMed gnomAD
rs754332038 CA8536924	194	A>T		No	ClinGen ExAC TOPMed gnomAD
CA290470350 rs796931652	194	A>V		No	ClinGen TOPMed gnomAD
rs764666297 CA8536926	196	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8536925 rs764666297	196	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1034704095 CA290470354	198	P>L		No	ClinGen Ensembl
CA290470357 rs894836614	199	K>R		No	ClinGen gnomAD
rs115509258 CA8536928	200	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399279230 rs1441626731	200	G>S		No	ClinGen gnomAD
CA399279282 rs1420777690	202	V>A		No	ClinGen gnomAD
rs530428169 CA8536931	202	V>I		No	ClinGen ExAC TOPMed gnomAD
rs781138630 CA8536932	203	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1172772381 CA399279302	204	A>T		No	ClinGen gnomAD
COSM978734 CA8536934 rs200069078	206	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1032000647 CA290470368	211	M>T		No	ClinGen TOPMed
rs748286782 CA8536936	212	V>A		No	ClinGen ExAC gnomAD
CA290470369 rs267604838	212	V>I		No	ClinGen gnomAD
rs976696445 CA290470372	214	G>C		No	ClinGen TOPMed gnomAD
rs976696445 CA290470375	214	G>R		No	ClinGen TOPMed gnomAD
CA8536938 rs772260746	216	D>H		No	ClinGen ExAC gnomAD
rs1424897372 CA399279572	218	W>*		No	ClinGen TOPMed
rs1568130345 CA399279557	218	W>G		No	ClinGen Ensembl
rs1245254089 CA399279577	219	D>N		No	ClinGen gnomAD
CA399279738 rs1330278282	221	P>A		No	ClinGen TOPMed
CA399279770 rs747241988	223	I>L		No	ClinGen ExAC TOPMed gnomAD
CA8536958 rs747241988	223	I>V		No	ClinGen ExAC TOPMed gnomAD
rs368102955 CA8536961	225	N>H		No	ClinGen ESP ExAC gnomAD
CA399279835 rs1180089975	225	N>S		No	ClinGen gnomAD
CA8536962 rs746301620	228	M>T		No	ClinGen ExAC gnomAD
rs1439455833 CA399279879	228	M>V		No	ClinGen gnomAD
rs770178104 CA8536963	230	T>N		No	ClinGen ExAC TOPMed gnomAD
rs376355189 CA8536965	233	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs376355189 CA399279991	233	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA399280001 rs1449146373	234	G>E		No	ClinGen gnomAD
rs1388641490 CA399279994	234	G>R		No	ClinGen gnomAD
rs147122182 CA8536987	235	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1169159128 CA399280132	237	S>L		No	ClinGen TOPMed
CA399280148 rs1316779191	238	G>A		No	ClinGen gnomAD
rs1479111044 CA399280165	239	E>G		No	ClinGen TOPMed
rs761439038 CA8536991	242	V>A		No	ClinGen ExAC gnomAD
CA8536990 rs187128895	242	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1023785367 CA290470635	243	I>N		No	ClinGen Ensembl
rs772951155 CA8536994	244	L>F		No	ClinGen ExAC
rs1425961718 CA399281455	245	I>F		No	ClinGen gnomAD
CA8537017 rs770633534	247	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1172034215 CA399281542	247	A>V		No	ClinGen gnomAD
CA8537018 rs776393530	249	D>E		No	ClinGen ExAC
CA290470988 rs374002468	251	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs374002468 CA8537039	251	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8537040 rs763997051	252	D>G		No	ClinGen ExAC gnomAD
CA8537042 rs200722398	253	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8537044 rs547737973	255	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8537045 rs755339257	256	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1446998243 CA399282245	262	E>G		No	ClinGen gnomAD
CA8537051 rs746490321	263	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1053759769 CA290470999	263	E>K		No	ClinGen TOPMed gnomAD
CA8537050 rs778189019	263	E>V		No	ClinGen ExAC TOPMed gnomAD
CA399282345 rs1285289410	264	V>I		No	ClinGen gnomAD
CA399282358 rs1285289410	264	V>L		No	ClinGen gnomAD
CA290471003 rs892559208	265	Q>*		No	ClinGen Ensembl
rs1334705079 CA399282432	266	R>K		No	ClinGen gnomAD
rs1260035693 CA399282467	267	E>G		No	ClinGen gnomAD
CA8537052 rs756791093	267	E>Q		No	ClinGen ExAC gnomAD
rs1260035693 CA399282464	267	E>V		No	ClinGen gnomAD
rs375766795 CA290471008	268	T>S		No	ClinGen ESP TOPMed gnomAD
rs1232673877 CA399282527	268	T>S		No	ClinGen TOPMed
rs780771486 CA8537053	269	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs769401325 CA8537055	270	Q>*		No	ClinGen ExAC gnomAD
CA399282595 rs769401325	270	Q>E		No	ClinGen ExAC gnomAD
rs1189287153 CA399282645	271	V>L		No	ClinGen TOPMed gnomAD
CA399282790 rs1288595231	273	K>T		No	ClinGen TOPMed
rs890649925 CA290471014	274	L>P		No	ClinGen Ensembl
COSM225748 rs750136681 CA290471016	275	S>N	NS [Cosmic]	No	ClinGen cosmic curated Ensembl
CA399282918 rs1474816553	275	S>R		No	ClinGen TOPMed gnomAD
CA8537057 rs749085782	276	R>*		No	ClinGen ExAC gnomAD
rs768611795 CA8537058	276	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1475196647 CA399282955	277	V>A		No	ClinGen TOPMed
CA399282938 rs1160516044	277	V>I		No	ClinGen TOPMed
rs1367737278 CA399283023	280	S>C		No	ClinGen TOPMed gnomAD
rs1465727811 CA399283028	280	S>N		No	ClinGen gnomAD
rs1393954611 CA399283063	282	L>M		No	ClinGen gnomAD
rs1415834591 CA399283111	283	L>I		No	ClinGen gnomAD
rs1423968890 CA399283171	285	S>F		No	ClinGen TOPMed
rs369000767 CA8537060	286	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1341203268 CA399283575	297	Q>K		No	ClinGen gnomAD
CA399283634 rs1226857851	299	L>F		No	ClinGen gnomAD
rs1598307254 CA399283719	300	E>A		No	ClinGen Ensembl
rs1249701313 CA399283698	300	E>K		No	ClinGen TOPMed gnomAD
rs373240051 CA8537063	301	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs369568940 CA8537065	302	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775605539 CA8537086	304	E>*		No	ClinGen ExAC gnomAD
rs879100321 CA290471121	304	E>A		No	ClinGen Ensembl
CA399284051 rs1453613290	305	G>R		No	ClinGen gnomAD
CA399284127 rs1211071826	308	D>Y		No	ClinGen TOPMed
CA290471122 rs776190104	309	K>N		No	ClinGen Ensembl
CA8537087 rs763328565	310	G>V		No	ClinGen ExAC TOPMed gnomAD
CA399284317 rs1242596521	313	V>L		No	ClinGen gnomAD
VAR_062005 rs56030650 CA8537089	314	T>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs56030650 CA8537090	314	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399284393 rs1238217948	315	L>V		No	ClinGen gnomAD
rs749903916 CA8537092	316	E>G		No	ClinGen ExAC gnomAD
rs200113849 CA8537091	316	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA399284441 rs1213709054	317	A>T		No	ClinGen gnomAD
rs755611285 CA8537093	319	P>L		No	ClinGen ExAC gnomAD
CA290471130 rs988714120	319	P>S		No	ClinGen gnomAD
rs1180145784 CA399284603	321	D>V		No	ClinGen gnomAD
CA399284644 rs1251659253	322	V>D		No	ClinGen TOPMed gnomAD
rs772704853 CA290471134	328	A>V		No	ClinGen Ensembl
CA8537097 rs754738073	329	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8537096 rs754738073	329	V>M		No	ClinGen ExAC TOPMed gnomAD
CA399284879 rs1164222025	330	G>S		No	ClinGen gnomAD
CA290471138 rs559726482	331	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559726482 CA8537099	331	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1332358587 CA399284949	332	I>L		No	ClinGen gnomAD
CA290471140 rs376865251	332	I>T		No	ClinGen ESP gnomAD
CA399284972 rs1162772725	333	L>V		No	ClinGen TOPMed
rs1323358800 CA399285012	334	Y>C		No	ClinGen gnomAD
rs1233852782 CA399285019	335	F>V		No	ClinGen gnomAD
CA8537103 rs187931918	336	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8537102 rs769786576	336	V>I		No	ClinGen ExAC TOPMed gnomAD
CA399285098 rs1233168328	337	G>E		No	ClinGen gnomAD
CA399285185 rs1175790906	340	T>A		No	ClinGen TOPMed gnomAD
CA290474661 rs764163953	344	E>V		No	ClinGen Ensembl
CA399286663 rs1432814120	354	M>I		No	ClinGen gnomAD
CA399286641 rs934393959	354	M>L		No	ClinGen TOPMed
CA290474672 rs934393959	354	M>V		No	ClinGen TOPMed
rs1270233493 CA399286722	356	K>E		No	ClinGen gnomAD
CA290474675 rs538631188	356	K>N		No	ClinGen Ensembl
rs1360691014 CA399286790	357	K>*		No	ClinGen gnomAD
rs1212418839 CA399286803	357	K>M		No	ClinGen gnomAD
rs1303011962 CA399286819	357	K>N		No	ClinGen gnomAD
rs1212418839 CA399286811	357	K>R		No	ClinGen gnomAD
CA8537128 rs374176758	358	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA399286844 rs1278657408	359	L>P		No	ClinGen gnomAD
CA8537130 rs761085790	360	P>L		No	ClinGen ExAC gnomAD
CA399286853 rs1217156877	360	P>S		No	ClinGen gnomAD
CA8537133 rs372615848	361	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs368393158 CA8537132	361	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs367666201 CA399286902	362	Q>*		No	ClinGen ESP ExAC gnomAD
rs367666201 CA8537134	362	Q>K		No	ClinGen ESP ExAC gnomAD
rs1393075336 CA399287029	365	L>P		No	ClinGen gnomAD
CA399287167 rs1410034123	367	E>D		No	ClinGen gnomAD
rs773439308 CA8537147	368	S>N		No	ClinGen ExAC gnomAD
rs747446896 CA8537148	369	T>M		No	ClinGen ExAC TOPMed gnomAD
CA399287240 rs1323525029	370	M>V		No	ClinGen gnomAD
CA8537150 rs189509068	371	E>V		No	ClinGen 1000Genomes ExAC gnomAD
rs372109972 CA290475028	378	K>E		No	ClinGen ESP TOPMed gnomAD
rs759064927 CA8537151	379	E>K		No	ClinGen ExAC TOPMed gnomAD
rs759064927 CA8537152	379	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA399287426 rs1334328335	381	V>A		No	ClinGen gnomAD
CA399287419 rs1405130971	381	V>I		No	ClinGen TOPMed
CA8537154 rs762690410	382	F>L		No	ClinGen ExAC TOPMed gnomAD
CA290475039 rs556433514	383	P>L		No	ClinGen TOPMed
rs1260313687 CA399287465	384	L>R		No	ClinGen gnomAD
rs973025480 CA290475042	385	Q>*		No	ClinGen TOPMed
rs763865076 CA8537155	386	P>T		No	ClinGen ExAC TOPMed gnomAD
CA8537157 rs377018805	388	L>R		No	ClinGen ESP ExAC TOPMed
rs180808878 CA8537158	390	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399287560 rs1190036688	391	S>A		No	ClinGen gnomAD
CA399287567 rs1417908741	391	S>F		No	ClinGen gnomAD
CA8537160 rs373798049	395	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8537161 rs754986832	396	E>*		No	ClinGen ExAC gnomAD
rs1178706390 CA399287671	398	T>I		No	ClinGen TOPMed
rs752835991 COSM1382908 CA8537166	400	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs377061493 CA8537164	400	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs747294044 CA8537170	405	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8537172 rs781492843	410	E>D		No	ClinGen ExAC gnomAD
rs746380757 CA8537173	411	V>M		No	ClinGen ExAC TOPMed gnomAD
CA290475105 rs894633691	413	R>T		No	ClinGen Ensembl
CA399287919 rs1271993391	414	S>L		No	ClinGen TOPMed gnomAD
rs1333298717 CA399287970	418	Y>H		No	ClinGen TOPMed
rs762592597 CA8537176	419	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1474846731 CA399288002	419	M>T		No	ClinGen TOPMed gnomAD
rs1568133440 CA399288025	420	W>C		No	ClinGen Ensembl
CA8537177 rs375724668	420	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1167015104 CA399288043	421	D>E		No	ClinGen gnomAD
CA290475111 rs200351860	421	D>N		No	ClinGen 1000Genomes TOPMed gnomAD
rs1021798934 CA290475114	422	P>S		No	ClinGen Ensembl
CA399288077 rs1598308827	424	T>P		No	ClinGen Ensembl
CA399288119 rs774076810	427	R>C		No	ClinGen ExAC gnomAD
CA8537179 rs370360005 COSM1209097	427	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8537178 rs774076810	427	R>S		No	ClinGen ExAC gnomAD
CA399288135 rs1364696703	428	L>P		No	ClinGen TOPMed
CA8537180 rs767352467	429	C>W		No	ClinGen ExAC gnomAD
CA399288174 rs1470449753	431	L>F		No	ClinGen gnomAD
rs750288430 CA8537181	432	Y>H		No	ClinGen ExAC gnomAD
rs1187307428 CA399288198	433	A>T		No	ClinGen TOPMed
CA290475132 rs749451414	433	A>V		No	ClinGen gnomAD
CA399288212 rs1327145315	434	G>S		No	ClinGen gnomAD
CA290475137 rs999085811	435	L>I		No	ClinGen Ensembl
CA8537183 rs766355659	436	S>Y		No	ClinGen ExAC gnomAD
rs1339803635 CA399288299	440	Q>*		No	ClinGen gnomAD
CA399288334 rs1236138242	442	T>P		No	ClinGen gnomAD
rs758532521 CA8537185	444	A>T		No	ClinGen ExAC gnomAD
rs1198693370 CA399288379	444	A>V		No	ClinGen gnomAD
rs777806080 CA8537186	445	S>A		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q96QA5

8 regional properties for Q96QA5

Type	Name	Position	InterPro Accession
domain	Arf GTPase activating protein	454 - 577	IPR001164
domain	SH3 domain	1085 - 1147	IPR001452
domain	Pleckstrin homology domain	339 - 433	IPR001849
repeat	Ankyrin repeat	615 - 702	IPR002110
domain	BAR domain	54 - 286	IPR004148
domain	ASAP, PH domain	331 - 437	IPR037844
domain	ASAP1, BAR domain	54 - 268	IPR037928
domain	ASAP1, SH3 domain	1089 - 1145	IPR038016

Functions

		Description
EC Number
Subcellular Localization	[Gasdermin-A]: Cytoplasm, perinuclear region Cytoplasm, cytosol ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name	Definition
phosphatidylinositol-4,5-bisphosphate binding	Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions.
phosphatidylinositol-4-phosphate binding	Binding to phosphatidylinositol-4-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' position.
phosphatidylserine binding	Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine.

3 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
defense response to bacterium	Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism.
pyroptosis	A caspase-1-dependent cell death subroutine that is associated with the generation of pyrogenic mediators such as IL-1beta and IL-18.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P57764	GSDMD	Gasdermin-D	Homo sapiens (Human)	EV
Q9BYG8	GSDMC	Gasdermin-C	Homo sapiens (Human)	SS
Q8TAX9	GSDMB	Gasdermin-B	Homo sapiens (Human)	EV
Q2KHK6	Gsdmc2	Gasdermin-C2	Mus musculus (Mouse)	SS
Q3TR54	Gsdmc4	Gasdermin-C4	Mus musculus (Mouse)	SS
Q8CB12	Gsdmc3	Gasdermin-C3	Mus musculus (Mouse)	SS
Q99NB5	Gsdmc	Gasdermin-C	Mus musculus (Mouse)	SS
Q9D8T2	Gsdmd	Gasdermin-D	Mus musculus (Mouse)	SS
Q5Y4Y6	Gsdma3	Gasdermin-A3	Mus musculus (Mouse)	EV
Q9EST1	Gsdma	Gasdermin-A	Mus musculus (Mouse)	SS
Q32M21	Gsdma2	Gasdermin-A2	Mus musculus (Mouse)	SS
P85967	Gsdmc	Gasdermin-C	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MTMFENVTRA	LARQLNPRGD	LTPLDSLIDF	KRFHPFCLVL	RKRKSTLFWG	ARYVRTDYTL
70	80	90	100	110	120
LDVLEPGSSP	SDPTDTGNFG	FKNMLDTRVE	GDVDVPKTVK	VKGTAGLSQN	STLEVQTLSV
130	140	150	160	170	180
APKALETVQE	RKLAADHPFL	KEMQDQGENL	YVVMEVVETV	QEVTLERAGK	AEACFSLPFF
190	200	210	220	230	240
APLGLQGSIN	HKEAVTIPKG	CVLAFRVRQL	MVKGKDEWDI	PHICNDNMQT	FPPGEKSGEE
250	260	270	280	290	300
KVILIQASDV	GDVHEGFRTL	KEEVQRETQQ	VEKLSRVGQS	SLLSSLSKLL	GKKKELQDLE
310	320	330	340	350	360
LALEGALDKG	HEVTLEALPK	DVLLSKEAVG	AILYFVGALT	ELSEAQQKLL	VKSMEKKILP
370	380	390	400	410	420
VQLKLVESTM	EQNFLLDKEG	VFPLQPELLS	SLGDEELTLT	EALVGLSGLE	VQRSGPQYMW
430	440
DPDTLPRLCA	LYAGLSLLQQ	LTKAS