AiPD: Autoinhibited Protein Database

Q96RD7

Gene name	PANX1
Protein name	Pannexin-1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:24145
EC number
Protein Class	PANNEXIN (PTHR15759)

Descriptions

Pannexin-1(Panx1) is the structural component of the gap junctions and the hemichannels involved in the ATP release and nucleotide permeation. Cleavage at Asp-379 removes a 46-amino acid C-terminal segment (380-426) that otherwise acts as an autoinhibitory blocker of the conducting pore formed by the Panx1 hexameric complex. Thus, accumulation of active caspase-3 during apoptosis can result in essentially irreversible open-gating of Panx1 channels.

Autoinhibitory domains (AIDs)

Target domain	28-294 (Pannexin)
Relief mechanism	Cleavage
Assay	Deletion assay, Mutagenesis experiment, Structural analysis

AID

380-426 (C-terminal tail)

Target domain

28-294 (Pannexin)

Relief mechanism

Cleavage (caspase-3-mediated cleavage of C-terminal tail)

Assay

Deletion assay, Mutagenesis experiment, Structural analysis

Accessory elements

No accessory elements

References

Boyd-Tressler A et al. (2014) "Chemotherapeutic drugs induce ATP release via caspase-gated pannexin-1 channels and a caspase/pannexin-1-independent mechanism", The Journal of biological chemistry, 289, 27246-27263

Mou L et al. (2020) "Structural basis for gating mechanism of Pannexin 1 channel", Cell research, 30, 452-454

Autoinhibited structure

Activated structure

20 structures for Q96RD7

Entry ID	Method	Resolution	Chain	Position	Source
6LTN	EM	310 A	A/B/C/D/E/F/G	1-426	PDB
6LTO	EM	310 A	A/B/C/D/E/F/G	1-426	PDB
6M02	EM	320 A	A/B/C/D/E/F/G	1-426	PDB
6M66	EM	410 A	A/B/C/D/E/F/G	1-426	PDB
6M67	EM	360 A	A/B/C/D/E/F/G	1-426	PDB
6M68	EM	460 A	A/B/C/D/E/F/G	1-426	PDB
6V6D	EM	377 A	A/B/C/D/E/F/G	1-426	PDB
6WBF	EM	283 A	A/B/C/D/E/F/G	1-373	PDB
6WBG	EM	297 A	A/B/C/D/E/F/G	1-373	PDB
6WBI	EM	439 A	A/B/C/D/E/F/G	1-371	PDB
6WBK	EM	601 A	A/B/C/D/E/F/G	1-370	PDB
6WBL	EM	513 A	A/B/C/D/E/F/G	1-370	PDB
6WBM	EM	286 A	A/B/C/D/E/F/G	1-373	PDB
6WBN	EM	283 A	A/B/C/D/E/F/G/H/I/J/K/L/M/N	1-373	PDB
7DWB	EM	315 A	A/B/C/D/E/F/G	2-426	PDB
7F8J	EM	360 A	A/B/C/D/E/F/G	1-426	PDB
7F8N	EM	340 A	A/B/C/D/E/F/G	1-426	PDB
7F8O	EM	360 A	A/B/C/D/E/F/G	1-426	PDB
7WSV	EM	450 A	A/B/C/D/E/F/G	21-426	PDB
AF-Q96RD7-F1	Predicted				AlphaFoldDB

372 variants for Q96RD7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000850138 rs1591499598	21	T>missing	Oocyte maturation defect 7 [ClinVar]	Yes	ClinVar dbSNP
RCV000850137 CA382459126 VAR_083163 rs1591529130	346	K>E	Oocyte maturation defect 7 OOMD7; impaired glycosylation resulting in the absence of GLY2 and the accumulation of GLY1 forms; associated with increased hemi-channel activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_083164 RCV000850136 rs1212949833 CA382459151	347	C>S	Oocyte maturation defect 7 OOMD7; impaired glycosylation resulting in the absence of GLY2 and the accumulation of GLY1 forms; associated with increased hemichannel activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA382459847 RCV000850135 rs1591529258	392	Q>*	Oocyte maturation defect 7 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA6233872 rs779284114	2	A>D		No	ClinGen ExAC TOPMed gnomAD
CA382456037 rs779284114	2	A>G		No	ClinGen ExAC TOPMed gnomAD
CA6233871 rs759950222	2	A>P		No	ClinGen ExAC TOPMed gnomAD
rs17856519 CA227011878	4	A>P		No	ClinGen ExAC TOPMed gnomAD
CA6233875 rs17856519	4	A>T		No	ClinGen ExAC TOPMed gnomAD
CA382456048 rs1215723059	4	A>V		No	ClinGen gnomAD
rs1138800 VAR_016098 CA6233876	5	Q>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA382456061 rs1218768660	7	A>T		No	ClinGen TOPMed
CA6233877 rs770987950	8	T>A		No	ClinGen ExAC TOPMed gnomAD
CA382456087 rs1228314729	10	Y>*		No	ClinGen TOPMed
CA6233879 rs759477545	11	V>M		No	ClinGen ExAC gnomAD
CA382456105 rs960471591	13	S>L		No	ClinGen gnomAD
CA227011880 rs960471591	13	S>W		No	ClinGen gnomAD
CA382456121 rs1405829974	15	F>L		No	ClinGen gnomAD
CA382456125 rs1182064464	16	L>W		No	ClinGen gnomAD
rs1358358916 CA382456130	17	L>V		No	ClinGen TOPMed gnomAD
CA227011881 rs1022207366	19	E>D		No	ClinGen TOPMed
CA227011882 rs904301113	20	P>S		No	ClinGen TOPMed gnomAD
rs904301113 CA382456149	20	P>T		No	ClinGen TOPMed gnomAD
CA6233882 rs558951523	21	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs558951523 CA6233881	21	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382456160 rs1285392049	22	E>*		No	ClinGen gnomAD
CA382456164 rs1240014385	22	E>D		No	ClinGen gnomAD
CA6233884 rs751197319	22	E>G		No	ClinGen ExAC gnomAD
rs761409975 CA382456165	23	P>A		No	ClinGen ExAC TOPMed gnomAD
rs767011036 CA6233886	23	P>R		No	ClinGen ExAC gnomAD
rs761409975 CA6233885	23	P>S		No	ClinGen ExAC TOPMed gnomAD
rs755484915 CA6233888	26	K>R		No	ClinGen ExAC gnomAD
CA6233889 rs779189300	27	G>R		No	ClinGen ExAC gnomAD
CA6233894 rs770948846	30	L>Q		No	ClinGen ExAC gnomAD
rs1441310581 CA382456216	31	E>D		No	ClinGen gnomAD
rs781284315 CA6233895	31	E>V		No	ClinGen ExAC gnomAD
rs1565369927 CA382456229	34	V>M		No	ClinGen Ensembl
CA6233897 rs769765804	35	D>H		No	ClinGen ExAC gnomAD
rs1401252066 CA382456243	36	K>E		No	ClinGen gnomAD
rs775483438 CA6233898	36	K>R		No	ClinGen ExAC gnomAD
CA6233900 rs768497210	39	T>K		No	ClinGen ExAC TOPMed gnomAD
rs768497210 CA6233901	39	T>M		No	ClinGen ExAC TOPMed gnomAD
rs761476795 CA382456276	41	I>L		No	ClinGen ExAC gnomAD
rs761476795 CA6233902	41	I>V		No	ClinGen ExAC gnomAD
CA227011884 rs973173885	43	V>L		No	ClinGen Ensembl
CA227011885 rs1022885735	44	G>V		No	ClinGen TOPMed
CA382456304 rs1343348739	46	P>A		No	ClinGen gnomAD
rs1343348739 CA382456305	46	P>S		No	ClinGen gnomAD
rs1591499711 CA382456312	47	L>P		No	ClinGen Ensembl
CA6233907 rs753146841	50	I>V		No	ClinGen ExAC gnomAD
rs764404754 CA6233909	51	S>L		No	ClinGen ExAC gnomAD
rs1234452792 CA382456366	56	Q>H		No	ClinGen TOPMed
rs757480669 CA382456365	56	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA6233912 rs757480669	56	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs781195700 CA6233913	57	E>K		No	ClinGen ExAC gnomAD
CA382456387 rs1328613219	59	S>L		No	ClinGen gnomAD
rs778915666 CA6233939	62	T>I		No	ClinGen ExAC gnomAD
CA6233940 rs369757341	64	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1360256377 CA382456466	68	S>F		No	ClinGen gnomAD
rs746605333 CA6233943	69	P>T		No	ClinGen ExAC gnomAD
rs766904100 CA6233944	70	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1300271804 CA382456476	70	S>T		No	ClinGen gnomAD
CA6233945 rs776097123	71	S>T		No	ClinGen ExAC gnomAD
CA6233946 rs141406306	72	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6233949 rs187445142	73	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs187445142 CA382456494	73	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs752084476 CA6233948	73	S>P		No	ClinGen ExAC gnomAD
CA6233950 rs767733137	75	R>C		No	ClinGen ExAC TOPMed gnomAD
CA382456506 rs750676655	75	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6233951 rs750676655	75	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1427253684 CA382456519	77	A>D		No	ClinGen gnomAD
CA6233952 rs376684216	78	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1253415280 CA382456564	84	C>R		No	ClinGen gnomAD
CA6233955 rs755026670	85	W>G		No	ClinGen ExAC TOPMed gnomAD
rs74961890 CA382456581	86	A>E		No	ClinGen TOPMed gnomAD
CA227014800 rs74961890	86	A>G		No	ClinGen TOPMed gnomAD
CA227014799 rs75339423	86	A>T		No	ClinGen Ensembl
rs74961890 CA382456582	86	A>V		No	ClinGen TOPMed gnomAD
CA227014801 rs1033718365	87	A>P		No	ClinGen Ensembl
rs150832252 CA6233957	88	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA6233958 rs150832252	88	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160760425 CA382456593	89	Q>E		No	ClinGen gnomAD
rs1203720452 CA6233959	90	Q>E		No	ClinGen TOPMed
CA227014802 rs1138799	91	K>M		No	ClinGen Ensembl
rs369787689 CA6233961	91	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6233963 rs770541610	92	N>K		No	ClinGen ExAC gnomAD
CA6233962 rs746724818	92	N>S		No	ClinGen ExAC gnomAD
CA382456632 rs1404414083	95	Q>*		No	ClinGen gnomAD
rs780748757 CA6233964	95	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1337308114 CA382456643	96	S>R		No	ClinGen TOPMed gnomAD
rs772082763 CA227014803	96	S>T		No	ClinGen Ensembl
CA382456648 rs1237887548	97	E>G		No	ClinGen TOPMed gnomAD
CA6233965 rs745393925	97	E>K		No	ClinGen ExAC TOPMed gnomAD
rs564530224 CA227014804	100	N>K		No	ClinGen TOPMed
rs1311124661 CA382456669	100	N>S		No	ClinGen gnomAD
CA382456672 rs1317334437	101	L>F		No	ClinGen TOPMed gnomAD
CA6233966 rs769224857	104	W>*		No	ClinGen ExAC TOPMed gnomAD
CA382456693 rs1483943063	104	W>*		No	ClinGen gnomAD
CA382456705 rs1324904662	106	H>R		No	ClinGen TOPMed
rs538216022 CA6233985	108	F>C		No	ClinGen 1000Genomes ExAC gnomAD
CA382456755 rs1189775798	109	F>L		No	ClinGen gnomAD
CA6233986 rs745481779	110	P>R		No	ClinGen ExAC gnomAD
rs550216121 CA6233988	112	I>F		No	ClinGen 1000Genomes ExAC gnomAD
CA6233989 rs748725828	115	L>V		No	ClinGen ExAC gnomAD
rs139198736 CA382456791	116	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs139198736 CA6233991	116	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs184999372 CA382456800	117	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs184999372 CA6233992	117	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6233993 rs771358466	120	L>R		No	ClinGen ExAC gnomAD
rs777029993 CA6233994	123	P>R		No	ClinGen ExAC gnomAD
rs868659941 CA227017753	123	P>S		No	ClinGen gnomAD
CA6233996 rs199806267	124	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6233998 rs763015243	125	L>P		No	ClinGen ExAC TOPMed gnomAD
rs763925874 CA6233999	126	F>L		No	ClinGen ExAC TOPMed gnomAD
CA227017755 rs200950145	127	W>*		No	ClinGen Ensembl
CA6234000 rs751430673	128	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200209193 CA6234001	128	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382456860 rs751430673	128	R>S		No	ClinGen ExAC TOPMed gnomAD
CA6234004 rs201108551	130	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6234003 rs201108551	130	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6234005 rs779678136	131	A>S		No	ClinGen ExAC gnomAD
CA382456886 rs1478842452	132	A>V		No	ClinGen gnomAD
CA382456889 rs1187122244	133	P>S		No	ClinGen TOPMed gnomAD
rs754450151 CA6234007	134	H>R		No	ClinGen ExAC TOPMed gnomAD
CA382456895 rs1423129022	134	H>Y		No	ClinGen gnomAD
rs1565386593 CA382456901	135	I>V		No	ClinGen Ensembl
CA227017756 rs1006956473	136	C>Y		No	ClinGen TOPMed
CA382456937 rs1410521259	140	K>E		No	ClinGen TOPMed
CA6234010 rs202058238	143	M>V		No	ClinGen ExAC gnomAD
rs1432476515 CA382456966	144	E>Q		No	ClinGen gnomAD
CA382456986 rs1161634323	146	L>P		No	ClinGen TOPMed gnomAD
CA382456983 rs1420278844	146	L>V		No	ClinGen TOPMed
CA382457001 rs1447757779	148	K>R		No	ClinGen TOPMed
rs777117950 CA6234011	149	V>A		No	ClinGen ExAC TOPMed gnomAD
CA6234012 rs746133317	150	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA6234013 rs111535626	152	R>C		No	ClinGen ExAC gnomAD
COSM1260854 CA6234014 rs572944224	152	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs149967628 RCV000965219 CA6234017	155	K>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6234016 rs764191495	155	K>R		No	ClinGen ExAC gnomAD
CA382457047 rs1489364016	156	A>T		No	ClinGen gnomAD
CA227017757 rs1030881600	157	A>V		No	ClinGen gnomAD
CA6234018 rs145987256	158	K>E		No	ClinGen ESP ExAC gnomAD
rs1482346022 CA382457073	160	A>T		No	ClinGen gnomAD
rs371181159 COSM3772115 CA6234019	160	A>V	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA6234021 rs755850483	161	R>C		No	ClinGen ExAC TOPMed gnomAD
rs755850483 CA6234022	161	R>G		No	ClinGen ExAC TOPMed gnomAD
rs576747452 CA6234023	161	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA227017758 rs576747452	161	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1378278663 CA382457080	162	D>N		No	ClinGen gnomAD
CA227017759 rs772146823	164	D>H		No	ClinGen gnomAD
CA382457094 rs772146823	164	D>N		No	ClinGen gnomAD
rs1445254108 CA382457109	165	M>I		No	ClinGen gnomAD
rs1358052905 CA382457104	165	M>K		No	ClinGen gnomAD
CA382457106 rs1358052905	165	M>R		No	ClinGen gnomAD
CA382457105 rs1358052905	165	M>T		No	ClinGen gnomAD
rs1318610706 CA382457102	165	M>V		No	ClinGen gnomAD
rs778521425 CA6234026	169	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1411185936 CA382457136	170	C>S		No	ClinGen TOPMed gnomAD
COSM1605390 rs543769570 CA6234028	171	S>L	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA382457149 rs1299708596	172	V>I		No	ClinGen TOPMed
rs781732515 CA6234029	173	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs746206853 CA6234030	175	V>A		No	ClinGen ExAC gnomAD
CA227017760 rs746206853	175	V>D		No	ClinGen ExAC gnomAD
rs780170105 CA6234032	177	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1427829196 CA382457185	178	N>Y		No	ClinGen TOPMed
CA6234034 rs768772897	179	L>S		No	ClinGen ExAC gnomAD
CA6234033 rs749475691	179	L>V		No	ClinGen ExAC gnomAD
CA6234036 rs761802395	180	G>E		No	ClinGen ExAC gnomAD
rs774382292 CA6234035	180	G>R		No	ClinGen ExAC
rs374405472 CA227017762	182	S>C		No	ClinGen Ensembl
rs1411025865 CA382457239	184	W>L		No	ClinGen gnomAD
rs181188850 CA6234058	186	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA227017873 rs762298586	187	S>F		No	ClinGen Ensembl
CA6234060 rs759178807	189	S>N		No	ClinGen ExAC gnomAD
CA227017874 rs865848273	190	H>R		No	ClinGen TOPMed gnomAD
CA227017875 rs979995059	191	F>L		No	ClinGen TOPMed gnomAD
CA382457289 rs979995059	191	F>L		No	ClinGen TOPMed gnomAD
rs764971044 CA6234061	192	K>R		No	ClinGen ExAC gnomAD
CA6234064 rs762558444	195	I>V		No	ClinGen ExAC gnomAD
CA6234066 rs750939259	196	V>A		No	ClinGen ExAC gnomAD
rs763646764 CA6234065	196	V>L		No	ClinGen ExAC TOPMed gnomAD
rs766720266 CA6234068	197	E>D		No	ClinGen ExAC gnomAD
CA6234067 rs756612625	197	E>G		No	ClinGen ExAC TOPMed gnomAD
CA382457340 rs1190800608	198	Q>L		No	ClinGen gnomAD
CA6234069 rs754213022	199	Y>C		No	ClinGen ExAC gnomAD
rs930451424 CA227017876	201	K>E		No	ClinGen TOPMed
CA382457377 rs1565387081	201	K>R		No	ClinGen Ensembl
CA6234071 rs779108563	202	T>S		No	ClinGen ExAC gnomAD
rs565801041 CA6234072	207	N>H		No	ClinGen 1000Genomes ExAC gnomAD
CA382457510 rs1303981799	212	K>E		No	ClinGen gnomAD
CA382457535 rs1360065723	213	Y>*		No	ClinGen gnomAD
rs139920522 CA227017877	217	R>C		No	ClinGen ESP gnomAD
rs143240087 CA6234075 RCV000234929 VAR_083162 COSM241041	217	R>H	found in a patient with primary ovarian failure associated with intellectual disability and sensorineural hearing loss; unknown pathological significance; no change in glycosylation pattern prostate [UniProt, Cosmic]	No	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA382457591 rs143240087	217	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6234076 rs770902075	219	L>V		No	ClinGen ExAC gnomAD
rs776347236 CA6234077	221	L>F		No	ClinGen ExAC gnomAD
CA227017879 rs940050820	222	I>N		No	ClinGen TOPMed
rs745672639 CA6234078	222	I>V		No	ClinGen ExAC gnomAD
rs775315701 CA6234080	223	I>N		No	ClinGen ExAC gnomAD
rs769647705 CA6234079	223	I>V		No	ClinGen ExAC TOPMed gnomAD
CA382457697 rs201905685	227	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6234081 rs201905685	227	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1307548858 CA382457715	228	C>S		No	ClinGen TOPMed
CA6234084 rs761139322	229	I>V		No	ClinGen ExAC TOPMed gnomAD
CA382457744 rs1367306959	230	Y>C		No	ClinGen gnomAD
CA382457740 rs1367306959	230	Y>S		No	ClinGen gnomAD
rs1446983917 CA382457752	231	L>V		No	ClinGen TOPMed gnomAD
CA6234085 rs533260927	232	G>C		No	ClinGen 1000Genomes ExAC
CA227017880 rs533260927	232	G>R		No	ClinGen 1000Genomes ExAC
CA382457771 rs1380105221	233	Y>C		No	ClinGen TOPMed gnomAD
rs1164545125 CA382457766	233	Y>H		No	ClinGen gnomAD
rs1412158624 CA382457793	234	Y>*		No	ClinGen TOPMed
CA6234087 rs551906394	237	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA6234088 rs765539053	238	S>C		No	ClinGen ExAC gnomAD
rs752968821 CA6234090	239	S>*		No	ClinGen ExAC TOPMed gnomAD
CA6234089 rs752968821	239	S>L		No	ClinGen ExAC TOPMed gnomAD
CA382457860 rs1395589228	240	L>F		No	ClinGen gnomAD
rs1565387183 CA382457877	241	S>*		No	ClinGen Ensembl
CA6234093 rs142497626	243	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781194585 CA382457963	247	S>I		No	ClinGen ExAC gnomAD
CA382457967 rs1262185440	247	S>R		No	ClinGen gnomAD
rs781194585 CA6234094	247	S>T		No	ClinGen ExAC gnomAD
rs1350760765 CA382457971	248	I>N		No	ClinGen gnomAD
CA382457988 rs1379610489	250	S>L		No	ClinGen gnomAD
rs1240744767 CA382457992	251	G>E		No	ClinGen gnomAD
rs1565387208 CA382457989	251	G>R		No	ClinGen Ensembl
CA6234095 rs745762590	252	I>N		No	ClinGen ExAC gnomAD
rs1227601570 CA382457997	252	I>V		No	ClinGen gnomAD
rs1237929011 CA382458010	254	R>K		No	ClinGen TOPMed gnomAD
rs749015536 CA6234098	259	V>M		No	ClinGen ExAC gnomAD
COSM1219199 CA6234100 rs773813550	261	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1408430055 CA382458096	262	Q>E		No	ClinGen gnomAD
CA6234101 rs761387918	264	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA6234102 rs185625556	264	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382458141 rs1275482778	265	C>G		No	ClinGen gnomAD
CA382458157 rs1375862744	266	K>T		No	ClinGen gnomAD
CA6234103 rs777143445	267	L>F		No	ClinGen ExAC gnomAD
rs1335924320 CA382458189	269	A>T		No	ClinGen gnomAD
rs760016220 CA6234104	269	A>V		No	ClinGen ExAC
rs375463776 CA6234107	270	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA382458201 rs375463776	270	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375463776 CA6234106	270	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs189649511 CA382458213	271	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs189649511 CA6234108	271	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs12793348 VAR_031225 CA6234110	272	I>V	no change in glycosylation pattern [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA382458250 rs1565387270	274	Q>*		No	ClinGen Ensembl
CA227017884 rs988930392	275	L>S		No	ClinGen TOPMed
rs899087737 CA227017886	277	S>G		No	ClinGen Ensembl
rs781085138 CA6234111	277	S>I		No	ClinGen ExAC gnomAD
CA6234112 rs750424028	279	I>N		No	ClinGen ExAC gnomAD
rs1481099184 CA382458362	282	V>A		No	ClinGen TOPMed
CA227017887 rs557291681	282	V>L		No	ClinGen gnomAD
rs780051930 CA6234114	283	V>F		No	ClinGen ExAC TOPMed gnomAD
rs749104581 CA6234115	285	V>A		No	ClinGen ExAC gnomAD
COSM933469 CA227017888 rs1047423158	288	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA6234119 COSM1219200 rs372103195 RCV000910239	290	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA227017889 rs1017327784	293	Y>C		No	ClinGen Ensembl
rs577336224 CA6234123	294	T>M		No	ClinGen ExAC TOPMed gnomAD
rs577336224 CA227017890	294	T>R		No	ClinGen ExAC TOPMed gnomAD
CA6234126 rs150484412	295	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs764326907 CA6234128	299	F>L		No	ClinGen ExAC TOPMed gnomAD
CA227017891 rs930503704	299	F>L		No	ClinGen TOPMed
CA6234129 rs751832105	300	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1488386695 CA382458583	300	R>L		No	ClinGen TOPMed gnomAD
rs1488386695 CA382458585	300	R>Q		No	ClinGen TOPMed gnomAD
CA227017892 rs1032968464	303	T>I		No	ClinGen Ensembl
rs767770975 CA6234132	304	D>A		No	ClinGen ExAC gnomAD
CA6234131 rs767770975	304	D>G		No	ClinGen ExAC gnomAD
rs761907786 CA6234130	304	D>H		No	ClinGen ExAC TOPMed gnomAD
CA382458635 rs761907786	304	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs756205250 CA6234133	308	V>M		No	ClinGen ExAC TOPMed
CA6234135 rs372606410	310	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA382458736 rs1174687407	311	I>T		No	ClinGen TOPMed
CA227017893 rs958355618	314	T>A		No	ClinGen TOPMed
rs778548705 CA6234137	314	T>I		No	ClinGen ExAC gnomAD
CA382458763 rs958355618	314	T>P		No	ClinGen TOPMed
CA382458779 rs1359389092	315	F>S		No	ClinGen gnomAD
rs771621539 CA6234140	316	D>E		No	ClinGen ExAC gnomAD
CA382458802 rs1423839390	317	V>I		No	ClinGen gnomAD
CA6234141 rs746535443	319	H>R		No	ClinGen ExAC gnomAD
rs1405202053 CA382458848	321	K>Q		No	ClinGen gnomAD
rs201625424 CA6234143	321	K>R		No	ClinGen ExAC TOPMed gnomAD
rs201625424 CA382458851	321	K>T		No	ClinGen ExAC TOPMed gnomAD
CA6234144 rs545913657	322	S>P		No	ClinGen 1000Genomes ExAC gnomAD
CA227017894 rs988132061	323	E>A		No	ClinGen Ensembl
CA382458870 rs1296994060	324	G>E		No	ClinGen gnomAD
rs1216807797 CA382458869	324	G>R		No	ClinGen gnomAD
CA6234146 rs774572696	325	Y>F		No	ClinGen ExAC gnomAD
CA382458886 rs1255365475	326	N>K		No	ClinGen TOPMed
CA6234147 rs376071442	326	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1565387446 CA382458887	327	D>N		No	ClinGen Ensembl
CA227017895 rs970782133	328	L>M		No	ClinGen Ensembl
rs1490561892 CA382458908	329	S>R		No	ClinGen gnomAD
rs767861483 CA6234148	330	L>R		No	ClinGen ExAC gnomAD
rs1037495511 CA227017896	331	Y>C		No	ClinGen TOPMed gnomAD
rs1310523349 CA382458921	332	N>H		No	ClinGen TOPMed
CA6234149 rs773502098	332	N>S		No	ClinGen ExAC TOPMed gnomAD
rs760867544 CA6234150	333	L>P		No	ClinGen ExAC gnomAD
rs557928663 CA6234152	336	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1386892705 CA382458960	337	E>V		No	ClinGen gnomAD
rs926705075 CA227017898	339	I>K		No	ClinGen Ensembl
rs754842943 CA6234153	339	I>L		No	ClinGen ExAC TOPMed gnomAD
rs754842943 CA382458971	339	I>V		No	ClinGen ExAC TOPMed gnomAD
CA382459064 rs1342911938	340	S>T		No	ClinGen gnomAD
CA227017899 rs937807519	342	V>I		No	ClinGen TOPMed gnomAD
CA6234154 rs765148777	343	K>E		No	ClinGen ExAC gnomAD
rs1398177661 CA382459097	343	K>R		No	ClinGen TOPMed
CA382459104 rs752422124	344	S>A		No	ClinGen ExAC gnomAD
rs752422124 CA6234155	344	S>T		No	ClinGen ExAC gnomAD
rs758131954 CA6234156	345	Y>H		No	ClinGen ExAC gnomAD
CA382459149 rs1212949833	347	C>F		No	ClinGen gnomAD
CA6234158 rs746627485	350	V>I		No	ClinGen ExAC gnomAD
rs1172507876 CA382459221	352	E>A		No	ClinGen TOPMed
rs780660916 CA6234160	353	N>S		No	ClinGen ExAC gnomAD
rs769027469 CA6234162	356	S>N		No	ClinGen ExAC TOPMed gnomAD
rs180948414 CA227017902	361	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748461463 CA6234164	361	I>T		No	ClinGen ExAC gnomAD
rs773590108 CA6234166	362	D>N		No	ClinGen ExAC TOPMed gnomAD
rs376644296 CA6234168	364	M>I		No	ClinGen ESP ExAC TOPMed
CA6234167 rs185167261	364	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382459475 rs1404765805	368	T>K		No	ClinGen gnomAD
CA382459479 rs1468672551	369	N>D		No	ClinGen gnomAD
rs1339334036 CA382459482	369	N>S		No	ClinGen gnomAD
CA6234171 rs191847249	372	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371006077 CA6234170	372	M>L		No	ClinGen ESP ExAC gnomAD
rs752612836 CA6234172	374	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1224570910 CA382459585	375	M>I		No	ClinGen gnomAD
CA382459588 rs1466571744	376	D>H		No	ClinGen gnomAD
CA382459613 rs1321564091	377	V>F		No	ClinGen TOPMed gnomAD
rs148324299 RCV000901256 CA6234174	378	V>A		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs763831959 CA6234175	380	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6234176 rs751265087	380	G>V		No	ClinGen ExAC TOPMed gnomAD
CA227017903 rs1042822034	382	T>P		No	ClinGen TOPMed
rs1180754597 CA382459694	383	P>A		No	ClinGen gnomAD
rs756874786 CA6234177	384	M>L		No	ClinGen ExAC TOPMed gnomAD
CA227017904 rs1038726320	384	M>T		No	ClinGen gnomAD
rs756874786 CA382459710	384	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1390177074 CA382459745	386	A>T		No	ClinGen gnomAD
CA227017905 rs900254259	387	E>G		No	ClinGen Ensembl
CA6234178 rs780809682	388	M>V		No	ClinGen ExAC gnomAD
rs74549886 CA6234180	390	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs541025605 CA6234179	390	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1409916847 CA382459838	391	E>D		No	ClinGen gnomAD
CA227017906 rs1032546321	391	E>G		No	ClinGen gnomAD
CA382459882 rs1356682845	394	N>H		No	ClinGen gnomAD
RCV000956992 rs115773754 CA6234182 COSM1357916	396	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6234184 rs202124256	399	L>P		No	ClinGen ExAC TOPMed gnomAD
CA227017907 rs199948423	400	Q>R		No	ClinGen Ensembl
CA382460128 rs1381096706	402	M>R		No	ClinGen TOPMed
CA6234207 rs182654100	402	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA382460139 rs1591529658	403	N>H		No	ClinGen Ensembl
rs1383812687 CA382460147 COSM1510496	403	N>S	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6234209 rs762947165	404	I>M		No	ClinGen ExAC TOPMed gnomAD
CA382460168 rs1164505427	404	I>R		No	ClinGen TOPMed gnomAD
CA382460166 rs1164505427	404	I>T		No	ClinGen TOPMed gnomAD
rs200926531 CA6234208	404	I>V		No	ClinGen ExAC TOPMed gnomAD
rs935683144 CA227017955	405	D>A		No	ClinGen Ensembl
CA6234210 rs768591289	405	D>E		No	ClinGen ExAC gnomAD
rs1246752490 CA382460209	406	S>N		No	ClinGen TOPMed gnomAD
CA382460253 rs1320379786	409	K>E		No	ClinGen gnomAD
CA382460251 rs1320379786	409	K>Q		No	ClinGen gnomAD
rs1328075461 CA382460297	412	N>D		No	ClinGen gnomAD
CA227017956 rs375269852	413	G>*		No	ClinGen ESP TOPMed gnomAD
CA227017957 rs887474317	414	E>D		No	ClinGen TOPMed
rs187308377 CA6234212	418	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368311655 CA6234213	418	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1054182454 CA227017958	419	Q>R		No	ClinGen Ensembl
rs1472783919 CA382460414	420	R>S		No	ClinGen TOPMed
rs1295038419 CA382460417	421	L>F		No	ClinGen Ensembl
rs750091912 CA6234214	423	D>Y		No	ClinGen ExAC gnomAD
CA6234216 rs765869615	426	C>G		No	ClinGen ExAC gnomAD
rs753387668 CA6234217	427	C>R		No	ClinGen ExAC gnomAD

1 associated diseases with Q96RD7

[MIM: 618550]: Oocyte maturation defect 7 (OOMD7)

An autosomal dominant infertility disorder due to oocyte degeneration and death, which may occur before or after fertilization. {ECO:0000269|PubMed:20829356, ECO:0000269|PubMed:30918116}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant infertility disorder due to oocyte degeneration and death, which may occur before or after fertilization. {ECO:0000269|PubMed:20829356, ECO:0000269|PubMed:30918116}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q96RD7

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96RD7

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein Endoplasmic reticulum membrane ; Multi-pass membrane protein
PANTHER Family	PTHR15759	PANNEXIN
PANTHER Subfamily	PTHR15759:SF5	PANNEXIN-1
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
bleb	A cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Blebs are formed during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. [GOC:mtg_apoptosis, PMID:12083798, PMID:16624291, Wikipedia:Bleb_(cell_biology)]
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
gap junction	A cell-cell junction composed of pannexins or innexins and connexins, two different families of channel-forming proteins.
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

11 GO annotations of molecular function

Name	Definition
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
calcium channel activity	Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.
gap junction channel activity	A wide pore channel activity that enables a direct cytoplasmic connection from one cell to an adjacent cell. The gap junction can pass large solutes as well as electrical signals between cells. Gap junctions consist of two gap junction hemi-channels, or connexons, one contributed by each membrane through which the gap junction passes.
identical protein binding	Binding to an identical protein or proteins.
leak channel activity	Enables the transport of a solute across a membrane via a narrow pore channel that is open even in an unstimulated or 'resting' state.
protease binding	Binding to a protease or a peptidase.
scaffold protein binding	Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
structural molecule activity	The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell.
transmembrane transporter binding	Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.
wide pore channel activity	Enables the transport of a solute across a membrane via a large pore, un-gated channel. Examples include gap junctions, which transport substances from one cell to another; and porins which transport substances in and out of bacteria, mitochondria and chloroplasts.

8 GO annotations of biological process

Name	Definition
calcium ion transport	The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
cation transport	The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
cell-cell signaling	Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions.
oogenesis	The complete process of formation and maturation of an ovum or female gamete from a primordial female germ cell. Examples of this process are found in Mus musculus and Drosophila melanogaster.
positive regulation of interleukin-1 alpha production	Any process that activates or increases the frequency, rate, or extent of interleukin-1 alpha production.
positive regulation of interleukin-1 beta production	Any process that activates or increases the frequency, rate, or extent of interleukin-1 beta production.
response to ATP	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ATP (adenosine 5'-triphosphate) stimulus.
response to ischemia	Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9JIP4	Panx1	Pannexin-1 [Cleaved into: Caspase-activated pannexin-1	Mus musculus (Mouse)	SS
P60570	Panx1	Pannexin-1 [Cleaved into: Caspase-activated pannexin-1	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MAIAQLATEY	VFSDFLLKEP	TEPKFKGLRL	ELAVDKMVTC	IAVGLPLLLI	SLAFAQEISI
70	80	90	100	110	120
GTQISCFSPS	SFSWRQAAFV	DSYCWAAVQQ	KNSLQSESGN	LPLWLHKFFP	YILLLFAILL
130	140	150	160	170	180
YLPPLFWRFA	AAPHICSDLK	FIMEELDKVY	NRAIKAAKSA	RDLDMRDGAC	SVPGVTENLG
190	200	210	220	230	240
QSLWEVSESH	FKYPIVEQYL	KTKKNSNNLI	IKYISCRLLT	LIIILLACIY	LGYYFSLSSL
250	260	270	280	290	300
SDEFVCSIKS	GILRNDSTVP	DQFQCKLIAV	GIFQLLSVIN	LVVYVLLAPV	VVYTLFVPFR
310	320	330	340	350	360
QKTDVLKVYE	ILPTFDVLHF	KSEGYNDLSL	YNLFLEENIS	EVKSYKCLKV	LENIKSSGQG
370	380	390	400	410	420
IDPMLLLTNL	GMIKMDVVDG	KTPMSAEMRE	EQGNQTAELQ	GMNIDSETKA	NNGEKNARQR

LLDSSC