AiPD: Autoinhibited Protein Database

Q9NX36

Gene name	DNAJC28 (C21orf55, C21orf78)
Protein name	DnaJ homolog subfamily C member 28
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54943
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

47-219 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

47-219 (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 Q9NX36

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NX36-F1	Predicted				AlphaFoldDB

321 variants for Q9NX36

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA410117055 rs1444414475	3	T>S		No	ClinGen TOPMed
CA10007536 COSM3740281 rs768774324	4	M>I	liver [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
CA10007537 rs368708571	4	M>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA320164235 rs548107753	6	V>M		No	ClinGen Ensembl
rs1403434071 CA410117028	7	M>K		No	Ensembl ClinGen
CA410117012 rs1601151058	9	A>P		No	ClinGen Ensembl
CA320164229 rs1040237569	10	Q>H		No	gnomAD ClinGen
CA10007533 rs772148615	11	I>L		No	ExAC gnomAD ClinGen
rs1568996824 CA410116998	11	I>N		No	ClinGen Ensembl
CA320164214 rs910508996	12	L>S		No	TOPMed gnomAD ClinGen
CA320164217 rs370234743	12	L>V		No	ESP TOPMed gnomAD ClinGen
CA410116989 rs1385434861	13	R>G		No	ClinGen gnomAD
CA410116985 rs1568996816	13	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA10007531 rs144175665	14	S>A		No	ESP ExAC TOPMed gnomAD ClinGen
rs1462962219 CA410116964	17	I>L		No	ClinGen TOPMed
rs113816667 CA320164205 CA10007530	18	K>N		No	ClinGen ExAC gnomAD
CA410116950 rs1435702661	19	A>P		No	TOPMed gnomAD ClinGen
CA410116941 rs771035152	20	T>I		No	ClinGen ExAC gnomAD
CA10007529 rs771035152	20	T>R		No	ClinGen ExAC gnomAD
CA10007528 rs749424168	21	V>G		No	ClinGen ExAC gnomAD
CA410116933 rs1490275866	22	I>F		No	gnomAD ClinGen
CA10007527 rs778227729	22	I>M		No	ExAC gnomAD ClinGen
rs756652592 CA10007526	23	P>A		No	ExAC gnomAD ClinGen
CA10007525 rs748471111	25	R>*		No	ClinGen ExAC TOPMed gnomAD
CA10007524 rs781559571	25	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs1161442517 CA410116912	26	V>M		No	gnomAD ClinGen
CA10007522 rs750095576	27	K>N		No	ClinGen ExAC TOPMed gnomAD
CA10007521 rs764866087	28	M>I		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	29	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10007520 rs756781105	30	P>L		No	ClinGen ExAC gnomAD
rs1601150906 CA410116876	31	Y>*		No	ClinGen Ensembl
CA10007519 rs753450991	31	Y>H		No	ExAC TOPMed gnomAD ClinGen
rs1364667236 CA410116866	33	G>C		No	ClinGen gnomAD
rs1301068280 CA410116863	33	G>D		No	ClinGen TOPMed gnomAD
rs1301068280 CA410116861	33	G>V		No	ClinGen TOPMed gnomAD
CA410116859 rs1175515291	34	I>V		No	Ensembl ClinGen
CA410116852 rs1385649831	35	I>L		No	gnomAD ClinGen
rs760730175 CA10007517	37	N>H		No	ClinGen ExAC gnomAD
CA410116837 rs1568996740	37	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
CA320164166 rs935677171	40	M>L		No	ClinGen Ensembl
CA410116813 rs775381087	40	M>R		No	ExAC gnomAD ClinGen
CA10007516 rs775381087	40	M>T		No	ClinGen ExAC gnomAD
rs767344474 CA10007515	43	H>R		No	ExAC ClinGen
CA10007513 rs539580049	44	K>*		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs529962153 CA320164148	44	K>T		No	TOPMed ClinGen
rs774615462 CA10007512	46	K>E		No	ExAC gnomAD ClinGen
rs771104330 CA10007510	50	R>G		No	ExAC gnomAD ClinGen
CA410116723 rs1568996693	53	Y>C		No	Ensembl ClinGen
CA10007508 rs773311456	56	L>Q		No	ExAC gnomAD ClinGen
CA10007506 rs556612434	58	V>M		No	1000Genomes ExAC TOPMed gnomAD ClinGen
TCGA novel	59	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	62	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1343941494 CA410116666	62	C>R		No	ClinGen gnomAD
rs781345595 CA10007505	63	S>A		No	ExAC gnomAD ClinGen
rs1432690604 CA410116656	63	S>C		No	ClinGen gnomAD
rs1326917674 CA410116654	64	A>T		No	gnomAD ClinGen
CA10007504 rs755366476	65	D>V		No	ClinGen ExAC TOPMed gnomAD
CA410116641 rs1398898791	66	E>K		No	ClinGen gnomAD
CA410116617 rs1326026484	69	E>A		No	ClinGen TOPMed
rs778608553 CA10007502	72	H>Q		No	ClinGen ExAC gnomAD
CA320164119 rs925597813	72	H>Y		No	TOPMed gnomAD ClinGen
CA10007501 rs374055028	74	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146790339 CA10007500	74	L>P		No	ClinGen ESP ExAC
CA320164104 rs142247238	75	A>T		No	ClinGen ESP TOPMed gnomAD
TCGA novel	76	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410116571 rs1475923330	76	K>R		No	gnomAD ClinGen
CA320164101 rs376754023	77	Q>R		No	ESP ClinGen
rs1601150594 CA410116540	80	P>L		No	ClinGen Ensembl
TCGA novel	80	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1463053050 CA410116538	81	D>N		No	ClinGen gnomAD
TCGA novel	83	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	85	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756061534 CA10007497	86	T>A		No	ClinGen ExAC gnomAD
rs144266803 CA10007496	86	T>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA320164082 rs954942470	88	D>N		No	ClinGen TOPMed
CA10007495 rs767409884	89	S>C		No	ExAC TOPMed gnomAD ClinGen
rs150004758 CA10007494	95	I>T		No	ESP ExAC TOPMed gnomAD ClinGen
CA10007493 rs774052485	96	E>G		No	ExAC gnomAD ClinGen
CA410116423 TCGA novel rs1384982069	98	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
rs761489723 CA10007492	99	Y>*		No	ClinGen ExAC gnomAD
CA410116418 rs1336796904	99	Y>H		No	ClinGen gnomAD
TCGA novel	101	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766581765 CA410116385	103	L>P		No	ExAC gnomAD ClinGen
rs766581765 CA10007491	103	L>R		No	ClinGen ExAC gnomAD
rs1419169490 CA410116380	104	S>C		No	gnomAD ClinGen
CA10007489 rs139373111	105	H>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA10007490 rs763184478	105	H>R		No	ExAC gnomAD ClinGen
rs1161630915 CA410116376	105	H>Y		No	ClinGen TOPMed
rs769867600 CA10007488	106	V>E		No	ClinGen ExAC gnomAD
rs777183888 CA10007486	107	I>M		No	ClinGen ExAC gnomAD
CA410116327 rs1437536194	112	A>G		No	gnomAD ClinGen
CA320164044 rs373285255	114	Q>H		No	ESP ClinGen
CA10007484 rs147509336	114	Q>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA10007483 rs200908300	115	S>N		No	ESP ExAC TOPMed gnomAD ClinGen
rs767928230 CA10007482	117	G>D		No	ClinGen ExAC gnomAD
rs767928230 CA320164037	117	G>V		No	ExAC gnomAD ClinGen
CA10007480 rs770661770	120	E>G		No	ExAC gnomAD ClinGen
rs1428932878 CA410116267	121	E>*		No	TOPMed ClinGen
CA10007479 CA320164024 rs546591410	121	E>D		No	ClinGen ExAC TOPMed gnomAD
CA320164011 rs757469310	122	D>A		No	ClinGen Ensembl
rs755668453 CA10007477	122	D>N		No	ExAC gnomAD ClinGen
CA410116262 rs755668453	122	D>Y		No	ClinGen ExAC gnomAD
CA410116197 rs1442476902	125	K>T		No	ClinGen gnomAD
rs1290216641 CA410116190	126	F>L		No	TOPMed ClinGen
CA10007474 rs377576614	126	F>L		No	ClinGen ESP ExAC
CA410116186 rs1353617768	126	F>S		No	ClinGen gnomAD
CA410116173 rs1568996467	127	K>T		No	ClinGen Ensembl
TCGA novel	128	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10007473 rs781150906	129	K>E		No	ExAC gnomAD ClinGen
TCGA novel	130	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410116134 rs1601150283	130	T>I		No	ClinGen Ensembl
CA410116129 COSM3405365 rs1363635870	131	P>S	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA410116132 rs1363635870	131	P>T		No	ClinGen TOPMed gnomAD
CA10007471 rs751318704	133	H>R		No	ExAC gnomAD ClinGen
CA10007472 rs187159127	133	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10007470 rs143356119	134	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs201623013 CA10007469	134	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA410116091 rs1242448268	135	H>R		No	TOPMed ClinGen
rs1027682970 CA410116056	138	S>C		No	gnomAD ClinGen
rs1027682970 CA320163985	138	S>G		No	ClinGen gnomAD
CA410116052 rs750639737	138	S>I		No	ExAC gnomAD ClinGen
CA10007468 rs750639737	138	S>N		No	ClinGen ExAC gnomAD
rs765502045 CA10007467	139	F>S		No	ClinGen ExAC TOPMed gnomAD
rs902486184 CA320163981	140	E>D		No	ClinGen TOPMed gnomAD
rs761861469 CA10007466	141	G>V		No	ExAC gnomAD ClinGen
CA320163976 rs1042428721	142	I>T		No	ClinGen TOPMed gnomAD
CA10007465 rs776616390	143	G>C		No	ClinGen ExAC TOPMed gnomAD
CA410115970 rs1319923729	146	T>N		No	ClinGen gnomAD
rs1223902034 CA410115953	148	T>A		No	ClinGen TOPMed gnomAD
rs139304381 COSM4137222 CA10007462	150	R>*	ovary [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated
CA410115931 rs139304381	150	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761112395 CA10007461	150	R>Q		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	151	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10007459 rs772573483	151	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	153	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746288924 CA10007458	154	Y>C		No	ExAC gnomAD ClinGen
rs1190460475 CA410115879	154	Y>H		No	ClinGen gnomAD
rs769623051 CA10007456	155	R>K		No	ExAC gnomAD ClinGen
CA410115851 rs1159891819	156	Q>*		No	TOPMed gnomAD ClinGen
rs747646956 CA10007455	156	Q>P		No	ExAC gnomAD ClinGen
CA10007454 rs780600508	158	R>S		No	ClinGen ExAC gnomAD
rs751815903 CA10007452	160	D>E		No	ClinGen ExAC TOPMed gnomAD
rs780024643 CA10007451	161	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs758184907 CA10007450	161	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA10007447 rs761960987	164	E>Q		No	ClinGen ExAC gnomAD
CA410115770 rs1216444847	167	M>L		No	gnomAD ClinGen
RCV000209894 CA354954 rs147358478	168	E>*		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA410115759 rs1222786193	168	E>D		No	ClinGen TOPMed
rs1265709273 CA410115761	168	E>G		No	ClinGen gnomAD
CA10007446 rs147358478	168	E>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA410115754 rs1224895861	169	Y>C		No	ClinGen gnomAD
CA320163904 rs935943749	169	Y>H		No	ClinGen Ensembl
rs79117949 CA410115750	170	Q>E		No	ClinGen gnomAD
rs79117949 CA320163898	170	Q>K		No	gnomAD ClinGen
CA410115734 rs1364566258	172	Q>E		No	gnomAD ClinGen
rs1256291352 CA410115712	175	Q>*		No	ClinGen gnomAD
rs1289914002 CA410115672	180	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10007443 rs768182272	182	S>G		No	ExAC TOPMed gnomAD ClinGen
rs148189588 CA10007442	183	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs530247871 CA10007440	188	I>T		No	1000Genomes ExAC gnomAD ClinGen
rs1470417204 CA410115618	188	I>V		No	gnomAD ClinGen
rs1175404959 CA410115598	191	S>R		No	gnomAD ClinGen
CA320163880 rs945699036	191	S>R		No	Ensembl ClinGen
rs747761752 CA10007438	192	K>R		No	ClinGen ExAC TOPMed gnomAD
CA410115559 rs1186973333	196	I>V		No	ClinGen gnomAD
rs200167967 COSM145330 CA10007437	197	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs746596112 CA10007435	198	Q>E		No	ExAC gnomAD ClinGen
rs758378223 CA10007433	200	I>T		No	ExAC gnomAD ClinGen
CA10007434 rs779934735	200	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1309573679 CA410115525	201	E>V		No	TOPMed gnomAD ClinGen
rs143094354 CA10007432	202	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
CA10007431 rs149059217	202	R>H		No	ESP ExAC TOPMed gnomAD ClinGen
CA10007430 rs757429999	203	L>*		No	ClinGen ExAC gnomAD
rs754017109 CA10007429	204	V>A		No	ExAC gnomAD ClinGen
CA410115512 rs1338754182	204	V>L		No	gnomAD ClinGen
rs764430532 CA10007428	207	L>F		No	ClinGen ExAC gnomAD
CA410115478 rs1174480122	209	Q>E		No	ClinGen gnomAD
CA10007426 COSM256800 rs138072076	210	E>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs1279694093 CA410115468	210	E>G		No	TOPMed ClinGen
CA10007425 rs752877249	211	S>C		No	ExAC gnomAD ClinGen
rs1601149716 CA410115458	212	M>V		No	Ensembl ClinGen
CA10007424 rs768092188	215	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs760153995 CA10007423	216	D>E		No	ExAC gnomAD ClinGen
CA410115420 rs1352354151	217	F>S		No	TOPMed ClinGen
TCGA novel	218	D>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1428811658 CA410115412	218	D>G		No	gnomAD ClinGen
rs1242004029 CA410115389	221	S>I		No	ClinGen TOPMed gnomAD
rs1242004029 CA410115391	221	S>N		No	TOPMed gnomAD ClinGen
CA320163830 rs1021076959	222	G>R		No	TOPMed gnomAD ClinGen
rs1252240279 CA410115380	223	K>E		No	ClinGen gnomAD
rs1227217424 CA410115366	225	K>E		No	gnomAD ClinGen
CA10007421 rs766667364	225	K>R		No	ClinGen ExAC gnomAD
CA320163812 rs17852675	226	P>R		No	Ensembl ClinGen
rs1181139213 CA410115358	226	P>S		No	TOPMed ClinGen
CA10007420 rs200804182	230	F>C		No	ClinGen 1000Genomes ExAC gnomAD
rs867632468 CA320163801	230	F>L		No	ClinGen Ensembl
CA10007419 rs776143156	235	Y>*		No	ExAC gnomAD ClinGen
CA10007417 rs746478360	236	I>M		No	ClinGen ExAC gnomAD
CA10007418 rs768395099	236	I>T		No	ExAC gnomAD ClinGen
CA410115292 rs1332274020	236	I>V		No	ClinGen gnomAD
rs140409370 CA10007415	239	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1028315934 CA320163759	241	H>Q		No	TOPMed ClinGen
CA320163766 rs773133706	241	H>Y		No	ClinGen gnomAD
CA410114996 rs1445170763	245	R>*		No	ClinGen gnomAD
rs778617947 CA10007411 COSM1030300	245	R>Q	endometrium [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
CA410114991 rs1170339162	246	I>L		No	ClinGen TOPMed gnomAD
CA410114983 rs1450021541	247	L>P		No	ClinGen gnomAD
rs749152213 COSM1030299 CA10007409	249	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA10007408 rs777838810	250	N>D		No	ClinGen ExAC gnomAD
CA410114964 rs1194903947	250	N>S		No	TOPMed gnomAD ClinGen
rs756383892 CA10007407	251	G>R		No	ExAC gnomAD ClinGen
CA410114948 rs767711601	252	Y>*		No	ExAC TOPMed gnomAD ClinGen
CA410114946 rs1351820495	253	Q>E		No	ClinGen TOPMed
rs1359438876 CA410114943	253	Q>R		No	ClinGen gnomAD
TCGA novel	254	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1282484671 CA410114939	254	P>T		No	ClinGen gnomAD
CA410114916 rs1241330761	257	I>F		No	gnomAD ClinGen
rs755486398 CA10007404	258	L>F		No	ClinGen ExAC TOPMed gnomAD
CA410114896 rs1282244462	260	Q>*		No	TOPMed ClinGen
rs752100416 CA10007402	262	E>Q		No	ExAC gnomAD ClinGen
CA10007400 rs763196074	264	S>N		No	ExAC gnomAD ClinGen
CA410114861 rs750848168 CA410114860	264	S>R		No	ExAC TOPMed gnomAD ClinGen
CA410114859 rs763604079	265	D>H		No	ExAC gnomAD ClinGen
COSM3423914 rs763604079 CA10007398	265	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
TCGA novel	265	D>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774911317 CA10007396	267	I>T		No	ExAC TOPMed gnomAD ClinGen
rs199590962 CA10007397	267	I>V		No	ExAC TOPMed gnomAD ClinGen
CA10007395 rs771581769	268	E>D		No	ClinGen ExAC TOPMed gnomAD
CA10007394 rs759102103	269	Q>*		No	ClinGen ExAC gnomAD
rs146746889 CA10007393	269	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410114826 rs1197468236	270	L>F		No	TOPMed ClinGen
rs904487470 CA320163697	273	A>E		No	gnomAD ClinGen
rs904487470 CA410114804	273	A>G		No	gnomAD ClinGen
rs1490322581 CA410114783	276	V>G		No	ClinGen gnomAD
CA10007391 rs748990753	279	K>R		No	ExAC gnomAD ClinGen
rs1351426890 CA410114758	280	K>R		No	gnomAD ClinGen
rs1260224143 CA410114752	281	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs777657441 CA10007390	281	L>P		No	ClinGen ExAC TOPMed gnomAD
rs769843998 CA10007389	283	N>I		No	ClinGen ExAC TOPMed gnomAD
CA410114734 rs1405372742	284	P>S		No	gnomAD ClinGen
CA410114725 rs1321452694	285	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10007388 rs564175696	285	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410114720 rs1383863827	286	T>S		No	gnomAD ClinGen
rs151326173 CA10007387	288	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs78121368 CA10007386	290	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1455302898 CA410114672	293	W>*		No	gnomAD ClinGen
CA320163670 rs966900592	293	W>R		No	ClinGen TOPMed
rs751729241 CA410114663	294	N>S		No	ExAC gnomAD ClinGen
rs751729241 CA10007385	294	N>T		No	ExAC gnomAD ClinGen
CA10007384 rs780402290	295	H>Y		No	ClinGen ExAC gnomAD
CA10007382 rs142171090	304	I>T		No	ExAC TOPMed gnomAD ClinGen
CA10007381 rs765636057	305	R>K		No	ClinGen ExAC gnomAD
TCGA novel	306	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10007380 rs760259315	306	K>T		No	ExAC TOPMed gnomAD ClinGen
CA10007379 rs752329100	308	N>K		No	ExAC ClinGen
CA320163640 rs960713125	309	K>R		No	ClinGen TOPMed
rs759028742 CA10007376	310	R>*		No	ClinGen ExAC TOPMed gnomAD
rs759028742 CA10007377	310	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10007375 rs182194192 COSM1030296	310	R>Q	endometrium [Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated
TCGA novel	311	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10007372 rs772826369	313	D>E		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	313	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10007373 rs762955572	313	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10007371 rs139967340	315	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA410114490 rs1601149084	316	L>*		No	Ensembl ClinGen
TCGA novel	317	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748024199 CA10007369	317	I>V		No	ExAC gnomAD ClinGen
CA410114462 rs1428296178	320	I>M		No	TOPMed ClinGen
CA10007367 rs781534131	320	I>V		No	ClinGen ExAC gnomAD
rs747036845 CA10007364	326	V>I		No	ClinGen ExAC gnomAD
rs1443395567 CA410114422	327	H>N		No	TOPMed ClinGen
CA10007360 rs190424708	328	F>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA10007361 rs190424708	328	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10007358 rs754237121	329	D>H		No	ClinGen ExAC gnomAD
CA10007359 rs754237121	329	D>N		No	ClinGen ExAC gnomAD
CA10007357 rs147512528	330	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754660713 CA10007355	336	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1382560889 CA410114351	337	A>D		No	ClinGen TOPMed
rs778647123 CA320163568	338	Q>R		No	ClinGen gnomAD
rs564467953 CA10007353	339	K>I		No	ClinGen ExAC TOPMed gnomAD
rs765928995 CA10007352	340	I>M		No	ExAC TOPMed gnomAD ClinGen
rs762429094 CA410114328	341	Y>H		No	ClinGen ExAC gnomAD
CA10007351 rs762429094	341	Y>N		No	ExAC gnomAD ClinGen
rs201546020 CA10007348	342	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs201546020 CA10007349	342	E>Q		No	ESP ExAC TOPMed gnomAD ClinGen
rs776588830 CA320163540	343	T>I		No	ExAC TOPMed gnomAD ClinGen
rs776588830 CA10007347	343	T>N		No	ExAC TOPMed gnomAD ClinGen
rs1384283944 CA410114309	344	L>F		No	gnomAD ClinGen
rs373310996 CA10007346	346	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs747258791 CA10007345	347	T>I		No	ClinGen ExAC gnomAD
CA410114291 rs1446820432	347	T>P		No	gnomAD ClinGen
CA410114289 rs1446820432	347	T>S		No	ClinGen gnomAD
rs1019340762 CA320163525 COSM280536	349	E>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs775370742 CA10007344	350	V>G		No	ExAC gnomAD ClinGen
CA10007343 rs772175920	351	T>R		No	ExAC gnomAD ClinGen
CA10007342 rs745998189	352	D>V		No	ExAC TOPMed gnomAD ClinGen
rs1167196619 CA410114254	353	R>G		No	gnomAD ClinGen
CA410114247 rs1357061898	354	N>H		No	ClinGen gnomAD
rs1446979381 CA410114232	356	N>D		No	TOPMed gnomAD ClinGen
rs1183550759 CA410114179	363	G>E		No	ClinGen TOPMed
rs757788305 CA10007340	363	G>R		No	ClinGen ExAC gnomAD
CA10007337 rs778117320	364	E>D		No	ClinGen ExAC gnomAD
CA320163506 rs953496920	364	E>G		No	ClinGen TOPMed gnomAD
rs749616309 CA10007338	364	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1425056037 CA410114166	365	K>I		No	TOPMed ClinGen
rs1273660237 CA410114155	367	P>S		No	gnomAD ClinGen
CA10007336 rs754570640	370	K>Q		No	ClinGen ExAC gnomAD
rs751212470 CA10007335	370	K>R		No	ExAC TOPMed gnomAD ClinGen
rs200537192 CA10007334	372	G>D		No	ESP ExAC TOPMed gnomAD ClinGen
CA410114087 rs1451773718	376	W>C		No	TOPMed ClinGen
rs1321459668 CA410114079	377	M>I		No	gnomAD ClinGen
rs552657108 CA320163482	378	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs552657108 CA10007330	378	N>H		No	ClinGen 1000Genomes ExAC gnomAD
rs761873408 CA10007329	378	N>S		No	ClinGen ExAC gnomAD
rs552657108 CA10007331	378	N>Y		No	1000Genomes ExAC gnomAD ClinGen
CA410114071 rs1601148580	379	L>V		No	Ensembl ClinGen
rs1010543640 CA320163471	380	W>*		No	Ensembl ClinGen
TCGA novel	381	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10007325 rs760442498	385	I>M		No	ExAC gnomAD ClinGen
CA10007324 rs775774536	386	R>*		No	ClinGen ExAC TOPMed gnomAD
rs546367322 CA10007323	386	R>Q		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9NX36

2 regional properties for Q9NX36

Type	Name	Position	InterPro Accession
domain	DnaJ domain	50 - 108	IPR001623
domain	DnaJ homologue, subfamily C, member 28, conserved domain	203 - 271	IPR018961

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
Golgi transport complex	A multisubunit tethering complex of the CATCHR family (complexes associated with tethering containing helical rods) that has a role in tethering vesicles to the Golgi prior to fusion. Composed of 8 subunits COG1-8.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

3 GO annotations of biological process

Name	Definition
Golgi organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
Golgi vesicle prefusion complex stabilization	The binding of specific proteins to the t-SNARE/v-SNARE/SNAP25 complex, by which the Golgi vesicle prefusion complex is stabilized.
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	The directed movement of substances from the Golgi back to the endoplasmic reticulum, mediated by vesicles bearing specific protein coats such as COPI or COG.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q06096	COG4	Conserved oligomeric Golgi complex subunit 4	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q8L838	COG4	Conserved oligomeric Golgi complex subunit 4	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MNTMYVMMAQ	ILRSHLIKAT	VIPNRVKMLP	YFGIIRNRMM	STHKSKKKIR	EYYRLLNVEE
70	80	90	100	110	120
GCSADEVRES	FHKLAKQYHP	DSGSNTADSA	TFIRIEKAYR	KVLSHVIEQT	NASQSKGEEE
130	140	150	160	170	180
EDVEKFKYKT	PQHRHYLSFE	GIGFGTPTQR	EKHYRQFRAD	RAAEQVMEYQ	KQKLQSQYFP
190	200	210	220	230	240
DSVIVKNIRQ	SKQQKITQAI	ERLVEDLIQE	SMAKGDFDNL	SGKGKPLKKF	SDCSYIDPMT
250	260	270	280	290	300
HNLNRILIDN	GYQPEWILKQ	KEISDTIEQL	REAILVSRKK	LGNPMTPTEK	KQWNHVCEQF
310	320	330	340	350	360
QENIRKLNKR	INDFNLIVPI	LTRQKVHFDA	QKEIVRAQKI	YETLIKTKEV	TDRNPNNLDQ
370	380
GEGEKTPEIK	KGFLNWMNLW	KFIKIRSF