AiPD: Autoinhibited Protein Database

Q9NPA0

Gene name	EMC7 (C11orf3, C15orf24, HT022, UNQ905/PRO1926)
Protein name	ER membrane protein complex subunit 7
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56851
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

156-242 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

156-242 (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

11 structures for Q9NPA0

Entry ID	Method	Resolution	Chain	Position	Source
1B0G	X-ray	250 A	C/F	4-12	PDB
1LP9	X-ray	200 A	C/J	4-12	PDB
2J8U	X-ray	288 A	C/J	4-12	PDB
2JCC	X-ray	250 A	C/J	4-12	PDB
2UWE	X-ray	240 A	C/J	4-12	PDB
6WW7	EM	340 A	G	1-242	PDB
6Z3W	EM	640 A	G	1-242	PDB
7ADO	EM	339 A	G	1-242	PDB
8EOI	EM	340 A	G	43-158	PDB
8S9S	EM	360 A	7	1-242	PDB
AF-Q9NPA0-F1	Predicted				AlphaFoldDB

148 variants for Q9NPA0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs775691710 CA7463007	2	A>V		No	ClinGen ExAC gnomAD
rs79363435 CA268621218	3	A>G		No	ClinGen gnomAD
CA391606953 rs1331330735	3	A>S		No	ClinGen gnomAD
CA391606937 rs199721583	4	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7463004 rs199721583	4	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391606932 rs1254107439	5	L>R		No	ClinGen gnomAD
rs1308616083 CA391606897	8	F>Y		No	ClinGen gnomAD
rs201752471 CA7462999	10	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs201752471 CA7463000	10	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs777438470 CA7463001	10	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1360652573 CA391606846	17	L>P		No	ClinGen gnomAD
CA391606847 rs1262505585	17	L>V		No	ClinGen TOPMed
CA391606833 rs1417509901	19	G>A		No	ClinGen TOPMed gnomAD
CA391606834 rs1417509901	19	G>E		No	ClinGen TOPMed gnomAD
rs1157506356 CA391606836	19	G>R		No	ClinGen gnomAD
CA7462992 rs750915064	20	D>H		No	ClinGen ExAC TOPMed gnomAD
CA391606830 rs750915064	20	D>N		No	ClinGen ExAC TOPMed gnomAD
CA391606820 rs1188007414	21	V>A		No	ClinGen gnomAD
rs765675291 CA7462991	23	S>N		No	ClinGen ExAC gnomAD
rs536183649 CA7462990	24	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391606774 rs1380072396	27	P>A		No	ClinGen TOPMed
rs550063207 CA268621195	27	P>L		No	ClinGen Ensembl
rs1188282761 CA391606766	28	G>A		No	ClinGen gnomAD
rs1188282761 CA391606767	28	G>E		No	ClinGen gnomAD
rs1048796154 CA268621193	28	G>R		No	ClinGen TOPMed gnomAD
CA391606762 rs1285458928	29	A>S		No	ClinGen TOPMed gnomAD
CA391606764 rs1285458928	29	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA391606757 rs1280582707	30	A>P		No	ClinGen TOPMed
rs764975902 CA268621190	30	A>V		No	ClinGen TOPMed gnomAD
CA391606751 rs1244509599	31	A>T		No	ClinGen TOPMed
rs1214477290 CA391606736	33	G>E		No	ClinGen gnomAD
rs866434424 CA268621187	34	S>L		No	ClinGen Ensembl
rs1266313990 CA391606724	35	G>A		No	ClinGen TOPMed
CA391606709 rs1597407654	37	S>R		No	ClinGen Ensembl
rs1597407643 CA391606697	39	V>G		No	ClinGen Ensembl
rs868419006 CA268621183	40	G>V		No	ClinGen Ensembl
rs772268121 CA7462985	41	I>T		No	ClinGen ExAC gnomAD
rs759705686 CA7462984	42	G>R		No	ClinGen ExAC gnomAD
CA7462982 rs770809700	43	D>G		No	ClinGen ExAC gnomAD
CA7462983 rs770350127	43	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1401197210 CA391606671	44	R>H		No	ClinGen TOPMed gnomAD
rs777404352 CA7462980	45	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs1392450137 CA391606629	50	R>H		No	ClinGen gnomAD
CA391606625 rs1412090523	51	A>S		No	ClinGen gnomAD
CA7462978 rs747791884	51	A>V		No	ClinGen ExAC gnomAD
rs780879341 CA268621172	52	V>F		No	ClinGen ExAC gnomAD
CA7462977 rs780879341	52	V>I		No	ClinGen ExAC gnomAD
CA391606621 rs780879341	52	V>L		No	ClinGen ExAC gnomAD
rs754425342 CA7462976	55	G>A		No	ClinGen ExAC gnomAD
CA391606604 rs1172246842	55	G>R		No	ClinGen gnomAD
TCGA novel	55	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7462972 rs779436277	57	K>N		No	ClinGen ExAC gnomAD
rs1369927034 CA391606587	58	P>A		No	ClinGen TOPMed
CA7462971 rs757683222	58	P>L		No	ClinGen ExAC gnomAD
CA391606545 rs1253470999	63	S>L		No	ClinGen gnomAD
CA7462968 rs761182498	66	R>G		No	ClinGen ExAC gnomAD
rs767861151 CA7462966	69	V>A		No	ClinGen ExAC gnomAD
CA391606513 rs767861151	69	V>G		No	ClinGen ExAC gnomAD
rs1332382592 CA391606483	73	E>D		No	ClinGen gnomAD
CA391606481 rs1157602247	74	H>D		No	ClinGen TOPMed
rs1555523753 CA391606472	75	V>F		No	ClinGen Ensembl
CA7462964 rs759652763	78	L>F		No	ClinGen ExAC gnomAD
CA391605849 rs1329007962	80	T>I		No	ClinGen gnomAD
CA268619988 rs910587341	81	D>G		No	ClinGen Ensembl
CA7462949 rs756483484	82	G>A		No	ClinGen ExAC TOPMed gnomAD
rs753147108 CA7462948	83	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	84	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1172070510 CA391605821	85	V>M		No	ClinGen gnomAD
rs1567503429 CA391605789	89	I>T		No	ClinGen Ensembl
CA391605735 rs1266791664	97	E>D		No	ClinGen Ensembl
CA7462946 rs755130062	100	S>T		No	ClinGen ExAC gnomAD
rs751844542 CA7462945	100	S>Y		No	ClinGen ExAC gnomAD
rs142313992 CA7462944	102	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs554746970 CA268619980	104	R>K		No	ClinGen Ensembl
TCGA novel	106	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391605684 rs1278459096	106	D>H		No	ClinGen gnomAD
rs1348414728 CA391605672	107	P>L		No	ClinGen TOPMed
rs1567503411 CA391605669	108	V>F		No	ClinGen Ensembl
CA391605664 rs1272191470	109	R>*		No	ClinGen TOPMed
CA7462943 rs137897635	109	R>P		No	ClinGen ESP ExAC
rs772962838 CA7462942	111	D>V		No	ClinGen ExAC gnomAD
CA7462941 rs765162356	112	I>M		No	ClinGen ExAC
rs112713802 CA268619972	112	I>T		No	ClinGen Ensembl
rs952295111 CA268619974	112	I>V		No	ClinGen TOPMed gnomAD
rs761555162 CA7462940	113	T>A		No	ClinGen ExAC gnomAD
rs1204775130 CA391605637	114	S>A		No	ClinGen TOPMed
rs1240474693 COSM960781 CA391605636	114	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1240474693 CA391605635	114	S>W		No	ClinGen gnomAD
CA391605627 rs1487227147	115	K>N		No	ClinGen TOPMed
rs776432477 CA7462939	115	K>R		No	ClinGen ExAC gnomAD
rs1306846707 CA391605625	116	G>R		No	ClinGen gnomAD
TCGA novel	118	M>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1027892905 CA268619967	118	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1413578233 CA391605447	120	A>S		No	ClinGen gnomAD
rs761708257 CA7462923	121	R>S		No	ClinGen ExAC TOPMed gnomAD
rs776617754 CA7462922	122	Y>C		No	ClinGen ExAC gnomAD
rs972824055 CA268618555	125	Y>C		No	ClinGen gnomAD
CA268618549 rs866005480	128	T>I		No	ClinGen Ensembl
rs373701824 CA268618545	131	V>A		No	ClinGen ESP gnomAD
rs1252520449 CA391605320	132	V>L		No	ClinGen TOPMed
CA7462917 rs535294114	133	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA391605289 rs1390065867	135	P>H		No	ClinGen gnomAD
CA391605263 rs1319924298	137	P>L		No	ClinGen gnomAD
rs960108847 CA268618539	142	S>P		No	ClinGen gnomAD
CA268618532 rs11557327	145	P>Q		No	ClinGen Ensembl
CA7462914 rs140273811	146	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1433501071 CA391605141	152	R>K		No	ClinGen TOPMed
CA7462910 rs190604325	154	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs750692480 CA7462908	156	G>S		No	ClinGen ExAC gnomAD
CA7462907 rs778959248	156	G>V		No	ClinGen ExAC TOPMed gnomAD
rs150305850 CA7462906	157	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	157	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA268618510 CA7462904 rs764094450	165	M>L		No	ClinGen ExAC gnomAD
rs140117138 CA7462888	167	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391605017 rs1210709590	168	M>T		No	ClinGen gnomAD
rs757259092 CA7462887	168	M>V		No	ClinGen ExAC gnomAD
rs994825366 CA268617825	171	L>F		No	ClinGen TOPMed
CA391604995 rs994825366	171	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	172	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM700071 rs1311744874 CA391604964	175	I>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs753948167 CA7462886	176	F>S		No	ClinGen ExAC gnomAD
rs1242644199 CA391604948	178	L>F		No	ClinGen gnomAD
CA268617818 rs376291301	182	V>M		No	ClinGen ESP
rs1186532430 CA391604906	185	T>A		No	ClinGen gnomAD
CA7462885 rs777519769	186	S>G		No	ClinGen ExAC gnomAD
CA391604883 rs1484937077	188	P>S		No	ClinGen TOPMed gnomAD
CA7462883 rs752612249	192	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768040833 CA7462850	194	M>V		No	ClinGen ExAC gnomAD
rs201452184 CA7462849	195	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1291697726 CA391604810	197	S>P		No	ClinGen TOPMed
COSM700072 rs1280712415 CA391604803	198	M>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7462847 rs771322201	200	M>I		No	ClinGen ExAC TOPMed gnomAD
CA7462848 rs774673808	200	M>L		No	ClinGen ExAC gnomAD
CA391604785 rs1340637922	200	M>T		No	ClinGen gnomAD
CA268612824 rs1042733463	202	N>Y		No	ClinGen Ensembl
CA7462846 rs749518289	204	N>S		No	ClinGen ExAC gnomAD
CA391604683 rs1392002056	214	M>I		No	ClinGen gnomAD
rs748185095 CA7462843	216	R>T		No	ClinGen ExAC gnomAD
rs1555522829 CA391604630	222	S>L		No	ClinGen Ensembl
rs183304201 CA7462842	226	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA7462841 rs754989938	229	G>S		No	ClinGen ExAC TOPMed gnomAD
CA391604574 rs1191053949	231	S>G		No	ClinGen gnomAD
rs746994022 CA7462840	233	T>A		No	ClinGen ExAC gnomAD
CA7462839 rs779965684	235	K>R		No	ClinGen ExAC gnomAD
CA7462838 rs758334956	237	G>A		No	ClinGen ExAC TOPMed gnomAD
rs750034094 CA7462837	238	A>S		No	ClinGen ExAC gnomAD
rs1260359087 CA391604523	239	G>S		No	ClinGen gnomAD
rs1597402780 CA391604493	243	R>E		No	ClinGen Ensembl

No associated diseases with Q9NPA0

4 regional properties for Q9NPA0

Type	Name	Position	InterPro Accession
domain	GNAT domain	422 - 573	IPR000182
domain	Elp3/MiaA/NifB-like, radical SAM core domain	115 - 377	IPR006638
domain	Radical SAM	63 - 572	IPR007197
domain	Radical SAM, C-terminal extension	339 - 418	IPR032432

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
EMC complex	A transmembrane protein complex located in the endoplasmic reticulum (ER) involved in the insertion of newly synthesized proteins in the membrane of the ER. In S. cerevisiae, it has six members: EMC1, EMC2, AIM27, EMC4, KRE27, and EMC6.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of endoplasmic reticulum membrane	The component of the endoplasmic reticulum 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.
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.

1 GO annotations of molecular function

Name	Definition
carbohydrate binding	Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates.

2 GO annotations of biological process

Name	Definition
protein insertion into ER membrane by stop-transfer membrane-anchor sequence	A process of protein insertion into the endoplasmic reticulum (ER) membrane in which stop-transfer membrane-anchor sequences become an ER membrane spanning helix.
tail-anchored membrane protein insertion into ER membrane	A process of protein insertion into the endoplasmic reticulum (ER) membrane in which a tail-anchored (TA) transmembrane protein is incorporated into an endoplasmic reticulum (ER) membrane. TA transmembrane protein, also named type II transmembrane proteins, contain a single C- terminal transmembrane region.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A5PJA8	EMC7	ER membrane protein complex subunit 7	Bos taurus (Bovine)	PR
Q9EP72	Emc7	ER membrane protein complex subunit 7	Mus musculus (Mouse)	PR
Q0IHY5	emc7	ER membrane protein complex subunit 7	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q5TYV0	emc7	ER membrane protein complex subunit 7	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MAAALWGFFP	VLLLLLLSGD	VQSSEVPGAA	AEGSGGSGVG	IGDRFKIEGR	AVVPGVKPQD
70	80	90	100	110	120
WISAARVLVD	GEEHVGFLKT	DGSFVVHDIP	SGSYVVEVVS	PAYRFDPVRV	DITSKGKMRA
130	140	150	160	170	180
RYVNYIKTSE	VVRLPYPLQM	KSSGPPSYFI	KRESWGWTDF	LMNPMVMMMV	LPLLIFVLLP
190	200	210	220	230	240
KVVNTSDPDM	RREMEQSMNM	LNSNHELPDV	SEFMTRLFSS	KSSGKSSSGS	SKTGKSGAGK

RR