AiPD: Autoinhibited Protein Database

Q9UN42

Gene name	ATP1B4
Protein name	Protein ATP1B4
Names	X,K-ATPase subunit beta-m, X/potassium-transporting ATPase subunit beta-m
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23439
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-109 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-109 (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 Q9UN42

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UN42-F1	Predicted				AlphaFoldDB

256 variants for Q9UN42

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753158669 CA414397984	6	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10504869 rs753158669 COSM610728	6	R>Q	lung Variant assessed as Somatic; 6.264e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs764760306 CA10504868	6	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1221224578 CA414398022	8	R>T		No	ClinGen TOPMed gnomAD
TCGA novel	13	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414398199 rs1361875510	16	S>I		No	ClinGen TOPMed
CA335006637 rs992806177	18	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM3708413 CA10504871 rs149707237 COSM1490425	18	R>H	liver breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs377759056	21	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1449439777 CA414398273	21	L>F		No	ClinGen gnomAD
CA10504873 rs757617927	21	L>P		No	ClinGen ExAC gnomAD
rs1443338776 CA414398693	22	D>E		No	ClinGen gnomAD
rs777736864 CA10504899	24	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	25	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200250439 CA10504901	26	E>K		No	ClinGen ExAC TOPMed gnomAD
rs780982037 CA10504902	27	A>S		No	ClinGen ExAC TOPMed gnomAD
rs573970199 COSM3424404 CA10504903 COSM3424405	27	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA10504905 rs370620289	29	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs769428933 CA10504904	29	Q>K		No	ClinGen ExAC gnomAD
rs113923035 CA335007015	30	N>D		No	ClinGen Ensembl
CA414398836 rs1602501196	30	N>K		No	ClinGen Ensembl
TCGA novel	33	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10504906 rs756006222	33	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1438778095 CA414398913	34	D>G		No	ClinGen TOPMed
rs1438778095 CA414398915	34	D>V		No	ClinGen TOPMed
rs1463659890 CA414398952	37	E>K		No	ClinGen Ensembl
CA335007016 rs774880830	44	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10504908 rs774880830	44	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs374060545 CA10504907	44	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA414399121 rs1253841868	45	V>G		No	ClinGen gnomAD
rs762247135 CA10504909	45	V>M		No	ClinGen ExAC TOPMed gnomAD
CA10504910 rs147823363	46	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2072452 CA10504914 VAR_055535	48	V>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA414399175 rs2072452	48	V>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10504913 rs766686718	48	V>M		No	ClinGen ExAC gnomAD
CA414399194 rs1315381689	49	P>L		No	ClinGen gnomAD
TCGA novel	50	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10504915 rs755047382 COSM1114056	51	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC
CA10504921 rs751459558	54	E>G		No	ClinGen ExAC TOPMed gnomAD
CA414399376 rs757150409	57	E>K		No	ClinGen ExAC TOPMed gnomAD
rs757150409 CA10504922	57	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	58	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA335007017 rs937814286	58	E>K		No	ClinGen Ensembl
TCGA novel	58	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	59	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414399414 rs1395955484	60	K>E		No	ClinGen TOPMed gnomAD
rs1314142686 CA414399440	61	E>D		No	ClinGen TOPMed gnomAD
rs781176572 CA10504923	63	E>K		No	ClinGen ExAC TOPMed gnomAD
CA414399502 rs1329358329	66	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	67	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	73	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232026247 CA414399610	73	G>D		No	ClinGen TOPMed
TCGA novel	77	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA335007018 rs867599281	79	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA414399657 rs1556037785	80	N>I		No	ClinGen Ensembl
CA414399667 rs1200950426	82	W>R		No	ClinGen gnomAD
CA10504927 rs779646555	85	K>R		No	ClinGen ExAC gnomAD
rs1180044073 CA414399708	87	Q>*		No	ClinGen gnomAD
CA10504928 rs142323808	88	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA414399728 rs1434746031	89	M>I		No	ClinGen TOPMed
CA414399725 rs1279914501	89	M>T		No	ClinGen gnomAD
CA414399747 rs1393990135	92	Y>N		No	ClinGen TOPMed
TCGA novel	93	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752818660 CA335007022	98	R>K		No	ClinGen Ensembl
CA414399795 rs1482123534	99	R>G		No	ClinGen gnomAD
CA414399818 rs1183353187	101	F>L		No	ClinGen TOPMed gnomAD
rs768162092 CA10504929	104	R>*		No	ClinGen ExAC TOPMed gnomAD
CA10504931 rs773746224	104	R>L		No	ClinGen ExAC TOPMed gnomAD
rs773746224 CA414399831	104	R>P		No	ClinGen ExAC TOPMed gnomAD
rs773746224 CA10504930	104	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10504932 rs374534200	108	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10504941 rs752718458	114	L>P		No	ClinGen ExAC gnomAD
rs143293969 CA10504942	115	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA414400635 rs1428344783	119	F>I		No	ClinGen gnomAD
CA414400647 rs1168584847	120	Y>C		No	ClinGen gnomAD
rs372328601 CA10504943	122	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs757935406 CA10504945	125	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1483145902 CA414400683	125	A>V		No	ClinGen TOPMed
TCGA novel	127	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs949083513 CA335007339	129	L>V		No	ClinGen TOPMed
CA10504947 rs748911738	130	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1287802457 CA414400810	132	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1056701449 CA335007340	133	T>A		No	ClinGen Ensembl
CA414400873 rs1305320441	137	T>P		No	ClinGen gnomAD
rs754591565 CA414400905	138	I>M		No	ClinGen ExAC TOPMed gnomAD
rs868592364 CA335007342	140	P>L		No	ClinGen gnomAD
rs778692709 CA10504949	143	P>R		No	ClinGen ExAC TOPMed gnomAD
CA414400980 rs1309194773	143	P>S		No	ClinGen gnomAD
CA10504950 rs780153272	144	T>N		No	ClinGen 1000Genomes ExAC gnomAD
rs773817165 CA10504952 COSM1114058	146	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1367390743 CA414401050	147	E>V		No	ClinGen gnomAD
CA10504954 rs771366789 COSM367587	148	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs747542194 CA10504953	148	R>W		No	ClinGen ExAC TOPMed gnomAD
CA414401071 rs1387541503	149	V>I		No	ClinGen TOPMed
rs760016365 CA10504956 COSM610727	150	K>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM1715476 CA10504957 rs375758637	151	P>L	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA414401110 rs1473505712	151	P>S		No	ClinGen TOPMed
CA414401115 rs1370662604	152	P>S		No	ClinGen TOPMed
rs1276713639 CA414401183	155	M>K		No	ClinGen TOPMed
rs1475218037 CA414401247	158	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs188398114 CA10504973	159	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781753966 CA10504974 COSM248837	160	A>T	Variant assessed as Somatic; 6.248e-05 impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs78360050 CA10504975	161	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1031575416 CA335007357	164	N>K		No	ClinGen Ensembl
rs1283581094 CA414401425	168	N>S		No	ClinGen gnomAD
rs763182565 CA10504978	169	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA414401452 rs1233902300	170	S>T		No	ClinGen TOPMed gnomAD
CA10504980 CA10504981 rs774417121	171	E>D		No	ClinGen ExAC gnomAD
CA10504979 rs768662642	171	E>V		No	ClinGen ExAC gnomAD
TCGA novel	173	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA335007359 rs990423839	173	D>N		No	ClinGen TOPMed gnomAD
rs1285390975 CA414401512	174	T>N		No	ClinGen gnomAD
CA10504983 rs753854230	175	W>G		No	ClinGen ExAC gnomAD
CA414401521 rs753854230	175	W>R		No	ClinGen ExAC gnomAD
CA414401550 rs1569354225	177	H>N		No	ClinGen Ensembl
rs183079208 CA10504984	177	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10504985 rs765104057	181	S>N		No	ClinGen ExAC gnomAD
CA414401717 COSM166447 rs1479128505	185	F>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	187	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414401762 rs1569354236	188	G>S		No	ClinGen Ensembl
rs1390828277 CA414402492	190	N>S		No	ClinGen gnomAD
CA10505009 rs767074164	191	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	191	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA335007790 rs1012019749	193	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA414402517 rs1337710403	194	Q>E		No	ClinGen gnomAD
TCGA novel	195	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377649780 CA10505010	195	E>G		No	ClinGen ESP ExAC gnomAD
TCGA novel	196	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA335007791 rs894682183	196	E>K		No	ClinGen TOPMed
rs1474873112 CA414402553	198	N>K		No	ClinGen TOPMed
CA10505011 rs756647745	199	V>I		No	ClinGen ExAC gnomAD
CA414402561 rs1349130700	200	D>H		No	ClinGen gnomAD
CA414402573 rs1457071653	201	C>F		No	ClinGen gnomAD
CA414402577 rs1569355578	202	P>A		No	ClinGen Ensembl
CA414402579 rs1237121362	202	P>H		No	ClinGen TOPMed gnomAD
rs1237121362 CA414402581	202	P>L		No	ClinGen TOPMed gnomAD
rs150466232 CA10505012	203	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA414402593 rs1274527772	205	Q>K		No	ClinGen gnomAD
TCGA novel	208	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369964949 CA335007792	208	I>M		No	ClinGen ESP ExAC gnomAD
rs1260639224 CA414402621	208	I>S		No	ClinGen TOPMed
rs748393161 CA10505016	209	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs771989277 CA10505017	211	G>S		No	ClinGen ExAC gnomAD
rs138401311 CA414402647	212	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138401311 CA10505018	212	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA414402650 rs1214845844	213	E>K		No	ClinGen TOPMed
CA414402666 rs1334777951	215	E>K		No	ClinGen TOPMed
CA414402679 rs1291744776	216	D>G		No	ClinGen TOPMed
rs1389440202 CA414402684	217	K>E		No	ClinGen gnomAD
rs373461272 CA10505020	217	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA10505022 rs762814396	219	A>D		No	ClinGen ExAC gnomAD
CA10505021 rs775620605	219	A>S		No	ClinGen ExAC TOPMed gnomAD
rs974267201 CA335007793	220	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
COSM1114060 rs771260677 CA10505025	224	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs376908557 CA10505026	224	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed
CA414402880 rs1326680137	225	S>Y		No	ClinGen TOPMed
CA414402908 rs749942334 CA10505027	226	F>L		No	ClinGen ExAC TOPMed gnomAD
CA414403005 rs1569355664	229	N>K		No	ClinGen Ensembl
TCGA novel	229	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA335007795 rs932845333	230	C>R		No	ClinGen Ensembl
CA335007796 rs773049941	231	S>C		No	ClinGen Ensembl
CA414403084 rs1602507606	232	G>R		No	ClinGen Ensembl
CA10505030 rs774726381	235	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	235	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370285447 CA10505031	236	P>Q		No	ClinGen ESP ExAC gnomAD
rs370285447 CA414403161	236	P>R		No	ClinGen ESP ExAC gnomAD
rs912683537 CA335007797	236	P>S		No	ClinGen TOPMed gnomAD
CA335007798 rs965721901	237	T>N		No	ClinGen TOPMed gnomAD
TCGA novel	239	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs944120246 CA335007799	240	Y>*		No	ClinGen gnomAD
CA414403264 rs1302254245	241	S>C		No	ClinGen gnomAD
CA10505032 rs779264283	241	S>P		No	ClinGen ExAC gnomAD
TCGA novel	242	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1434601059 COSM221317 CA414403285	242	T>N	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1042396596 CA414403298	244	Q>*		No	ClinGen TOPMed gnomAD
CA335007800 rs1042396596	244	Q>K		No	ClinGen TOPMed gnomAD
rs1374848209 CA414403357	246	C>*		No	ClinGen gnomAD
rs748253000 CA10505033	246	C>R		No	ClinGen ExAC gnomAD
TCGA novel	247	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	249	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10505034 rs758645227	249	L>V		No	ClinGen ExAC TOPMed gnomAD
rs201696616 CA10505035	252	N>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	253	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414403463 rs1225447975	253	R>Q		No	ClinGen TOPMed
CA10505036 rs146145822 COSM253245	253	R>W	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1211560415 CA414403834	254	I>L		No	ClinGen gnomAD
CA10505058 rs757367445	254	I>T		No	ClinGen ExAC gnomAD
CA10505059 rs781438242 COSM224139	255	V>I	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA414403848 rs1175560458	256	G>D		No	ClinGen gnomAD
rs930410820 CA335007903	256	G>S		No	ClinGen gnomAD
rs1194793204 CA414403849	257	F>I		No	ClinGen TOPMed
COSM456629 CA10505060 rs149447498	258	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA10505061 rs143954745 COSM318834	258	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA335007905 rs759003249	260	E>D		No	ClinGen 1000Genomes TOPMed
CA414403883 rs1376323243	262	G>E		No	ClinGen gnomAD
rs747953543 CA10505063	265	V>L		No	ClinGen ExAC TOPMed gnomAD
CA414403910 rs1481192518	266	K>N		No	ClinGen TOPMed
rs200701171 CA10505064	266	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA10505065 rs200701171	266	K>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1377818544 CA414403914	267	V>F		No	ClinGen gnomAD
rs1377818544 CA414403913	267	V>L		No	ClinGen gnomAD
CA10505066 rs760258491	269	C>F		No	ClinGen ExAC
rs1407383143 CA414403925	269	C>R		No	ClinGen gnomAD
CA10505067 rs770359787	271	V>A		No	ClinGen ExAC gnomAD
CA414403945 rs1373549943	272	Q>E		No	ClinGen gnomAD
rs776113360 CA10505068	272	Q>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	274	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769215387 CA10505088	278	D>N		No	ClinGen ExAC gnomAD
CA10505089 rs776011900	280	R>*		No	ClinGen ExAC TOPMed gnomAD
COSM1114063 rs763388319 CA10505090	280	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1451913356 CA414404047	285	Y>H		No	ClinGen TOPMed
rs376830115 CA10505091	287	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs762329093 CA10505093	294	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1474696690 CA414404109	294	R>H		No	ClinGen gnomAD
CA414404115 rs1569356658	295	Y>C		No	ClinGen Ensembl
rs1021468391 CA335008109	295	Y>H		No	ClinGen gnomAD
rs750716159 CA10505095	296	Y>C		No	ClinGen ExAC gnomAD
rs756223782 CA10505096	298	Y>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	300	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867670964 CA335008110	300	G>D		No	ClinGen Ensembl
CA10505098 rs780828992	300	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA335008111 rs1000848189	303	T>I		No	ClinGen TOPMed
rs368849098	304	H>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs773518752 CA10505114	306	N>D		No	ClinGen ExAC gnomAD
CA10505115 rs138577504	308	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA335008188 rs200756053	310	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA414404259 rs1415615320	315	H>L		No	ClinGen gnomAD
TCGA novel	318	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755133270 CA10505118	319	V>M		No	ClinGen ExAC gnomAD
CA414404294 rs1174085393	320	V>G		No	ClinGen TOPMed
rs763905083 CA10505119	321	K>R		No	ClinGen ExAC
rs756993573 CA10505121	326	P>T		No	ClinGen ExAC gnomAD
rs780975521 CA10505122	327	V>L		No	ClinGen ExAC TOPMed gnomAD
rs780975521 CA414404335	327	V>M		No	ClinGen ExAC TOPMed gnomAD
CA414404347 rs1267723924	328	Q>H		No	ClinGen TOPMed
CA335008190 rs937200752	331	L>M		No	ClinGen Ensembl
rs892503069 CA335008192	333	G>A		No	ClinGen TOPMed
CA414404392 rs1483716858	335	G>D		No	ClinGen TOPMed
CA335008193 rs867324932	336	V>A		No	ClinGen Ensembl
rs1485678190 CA414404395	336	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	337	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10505125 rs779817321	339	D>G		No	ClinGen ExAC gnomAD
rs1469333255 CA414404416	339	D>N		No	ClinGen gnomAD
CA414404427 rs1409946621	340	V>G		No	ClinGen gnomAD
CA414404439 rs1432782564	342	N>S		No	ClinGen TOPMed gnomAD
COSM1465266 rs748728819 CA10505126	344	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10505127 rs748728819	344	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10505128 rs369656353	344	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs369656353 CA335008194	344	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs748728819 CA414404451	344	R>S		No	ClinGen ExAC TOPMed gnomAD
CA10505129 rs200352903	346	V>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	347	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	351	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414404503 rs1352345097	352	T>N		No	ClinGen TOPMed
rs1334182837 CA414404533	356	E>D		No	ClinGen gnomAD

No associated diseases with Q9UN42

No regional properties for Q9UN42

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9UN42

Functions

		Description
EC Number
Subcellular Localization	Nucleus inner membrane ; Single-pass type II membrane protein	Detected in nuclear envelops
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
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.
nuclear envelope	The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).
nuclear inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope.
sodium:potassium-exchanging ATPase complex	Sodium:potassium-exchanging ATPases are tetrameric proteins, consisting of two large alpha subunits and two smaller beta subunits. The alpha subunits bear the active site and penetrate the membrane, while the beta subunits carry oligosaccharide groups and face the cell exterior.

1 GO annotations of molecular function

Name	Definition
inorganic cation transmembrane transporter activity	Enables the transfer of inorganic cations from one side of a membrane to the other. Inorganic cations are atoms or small molecules with a positive charge that do not contain carbon in covalent linkage.

3 GO annotations of biological process

Name	Definition
potassium ion transport	The directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
sodium ion transport	The directed movement of sodium ions (Na+) 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
P08251	ATP1B1	Sodium/potassium-transporting ATPase subunit beta-1	Gallus gallus (Chicken)	PR
Q99ME6	Atp1b4	Protein ATP1B4	Mus musculus (Mouse)	PR
P05027	ATP1B1	Sodium/potassium-transporting ATPase subunit beta-1	Sus scrofa (Pig)	PR
Q9R193	Atp1b4	Protein ATP1B4	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MRRQLRSRRA	PSFPYSYRYR	LDDPDEANQN	YLADEEEEAE	EEARVTVVPK	SEEEEEEEEK
70	80	90	100	110	120
EEEEEEEKEE	EEGQGQPTGN	AWWQKLQIMS	EYLWDPERRM	FLARTGQSWS	LILLIYFFFY
130	140	150	160	170	180
ASLAAVITLC	MYTLFLTISP	YIPTFTERVK	PPGVMIRPFA	HSLNFNFNVS	EPDTWQHYVI
190	200	210	220	230	240
SLNGFLQGYN	DSLQEEMNVD	CPPGQYFIQD	GNEDEDKKAC	QFKRSFLKNC	SGLEDPTFGY
250	260	270	280	290	300
STGQPCILLK	MNRIVGFRPE	LGDPVKVSCK	VQRGDENDIR	SISYYPESAS	FDLRYYPYYG
310	320	330	340	350
KLTHVNYTSP	LVAMHFTDVV	KNQAVPVQCQ	LKGKGVINDV	INDRFVGRVI	FTLNIET