AiPD: Autoinhibited Protein Database

Q9P0I2

Gene name	EMC3 (TMEM111)
Protein name	ER membrane protein complex subunit 3
Names	Transmembrane protein 111
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55831
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

63-133 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

63-133 (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

7 structures for Q9P0I2

Entry ID	Method	Resolution	Chain	Position	Source
6WW7	EM	340 A	C	1-261	PDB
6Z3W	EM	640 A	C	1-261	PDB
7ADO	EM	339 A	C	1-261	PDB
7ADP	EM	360 A	C	1-261	PDB
8EOI	EM	340 A	C	4-261	PDB
8S9S	EM	360 A	3	1-261	PDB
AF-Q9P0I2-F1	Predicted				AlphaFoldDB

130 variants for Q9P0I2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA70044773 rs762939915	2	A>T		No	ClinGen Ensembl
CA351769552 rs1478976964	3	G>A		No	ClinGen TOPMed gnomAD
TCGA novel	8	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141633881 CA2248879	10	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs903278544 CA70044749	11	N>D		No	ClinGen TOPMed gnomAD
CA2248876 rs749210998	14	L>H		No	ClinGen ExAC
rs769521213 CA2248874	15	W>S		No	ClinGen ExAC gnomAD
CA351769400 rs1285181868	16	V>G		No	ClinGen TOPMed gnomAD
CA2248873 rs747945531	17	V>I		No	ClinGen ExAC gnomAD
rs1414135218 CA351769378	19	P>A		No	ClinGen TOPMed
rs1288880770 CA351769373	19	P>R		No	ClinGen TOPMed
CA2248869 rs779573513	20	I>T		No	ClinGen ExAC TOPMed gnomAD
CA351769337 rs1163349990	24	T>S		No	ClinGen TOPMed gnomAD
TCGA novel	25	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754309157 CA2248867	26	F>L		No	ClinGen ExAC gnomAD
CA2248866 rs764699608	27	V>I		No	ClinGen ExAC gnomAD
CA70044695 rs1050367213	30	I>L		No	ClinGen TOPMed
rs1248617280 CA351769279	33	Y>H		No	ClinGen gnomAD
rs753098124 CA2248864	34	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1319989898 CA351769243	39	Q>E		No	ClinGen TOPMed gnomAD
rs1258460404 CA351769233	40	S>N		No	ClinGen gnomAD
rs373587570 CA2248860	43	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA2248859 rs762956269	44	L>V		No	ClinGen ExAC gnomAD
CA2248857 rs531787066	46	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2248856 rs748143903	48	Q>P		No	ClinGen ExAC gnomAD
rs780945207 CA2248855	50	S>C		No	ClinGen ExAC gnomAD
CA351769150 rs768363399	52	S>N		No	ClinGen ExAC gnomAD
CA2248854 rs768363399	52	S>T		No	ClinGen ExAC gnomAD
rs139264363 CA2248836	54	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1377275432 CA351767816	56	I>L		No	ClinGen TOPMed
rs1559351897 CA351767813	56	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs771609062 CA2248834	59	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1228279756 CA351767782	61	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2248833 rs745562471	66	K>R		No	ClinGen ExAC gnomAD
rs201180129 CA2248831	68	I>V		No	ClinGen ExAC gnomAD
CA2248830 rs748617227	69	P>S		No	ClinGen ExAC gnomAD
CA351767714 rs1302100090	71	Q>E		No	ClinGen TOPMed
CA351767694 rs1216658647	72	S>A		No	ClinGen TOPMed
CA70038537 rs868289867	72	S>F		No	ClinGen gnomAD
CA351767677 rs1425240557 CA351767678	74	L>F		No	ClinGen TOPMed gnomAD
rs1192534677 CA351767675	75	T>A		No	ClinGen gnomAD
CA2248813 rs771942557	76	R>*		No	ClinGen ExAC gnomAD
rs1240518604 CA351767669	76	R>Q		No	ClinGen gnomAD
CA70038507 rs566452461	77	K>Q		No	ClinGen 1000Genomes
CA351767607 rs1480493525	83	P>S		No	ClinGen gnomAD
rs774170217 CA2248811	84	E>G		No	ClinGen ExAC gnomAD
rs770508354 CA2248810	91	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2248808 rs777409595	93	R>W		No	ClinGen ExAC gnomAD
rs747603627 CA2248806	96	V>A		No	ClinGen ExAC gnomAD
CA2248805 rs780255014	97	P>L		No	ClinGen ExAC gnomAD
CA351767422 rs1311312124	98	P>R		No	ClinGen gnomAD
TCGA novel	99	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351767380 rs1475421013	100	P>L		No	ClinGen TOPMed
rs758797596 CA2248804	101	M>V		No	ClinGen ExAC gnomAD
TCGA novel	106	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747437288 CA2248789	106	M>V		No	ClinGen ExAC gnomAD
rs746224615 CA2248786	110	M>L		No	ClinGen ExAC gnomAD
rs372257426 CA70036320	110	M>T		No	ClinGen ESP TOPMed
CA2248787 rs746224615	110	M>V		No	ClinGen ExAC gnomAD
rs1362510622 CA351766684	115	V>I		No	ClinGen gnomAD
rs924587837 CA70036319	117	N>D		No	ClinGen gnomAD
CA351766635 rs1424717562	119	L>F		No	ClinGen gnomAD
rs1186044451 CA351766533	127	W>L		No	ClinGen gnomAD
TCGA novel	130	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2248785 rs779305122	130	M>K		No	ClinGen ExAC
rs1489424775 CA351766480	130	M>V		No	ClinGen gnomAD
rs757446818 CA2248784	131	T>I		No	ClinGen ExAC gnomAD
rs1204563649 CA351766406	133	S>A		No	ClinGen gnomAD
CA351766321 rs1348645459	138	T>A		No	ClinGen gnomAD
CA351765353 rs1575676728	145	T>P		No	ClinGen Ensembl
CA2248770 rs772551936	146	L>F		No	ClinGen ExAC gnomAD
rs746420664 CA2248769	146	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1231168546 CA351765319	147	R>C		No	ClinGen gnomAD
TCGA novel	153	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2248765 rs778069120	154	Q>E		No	ClinGen ExAC gnomAD
rs748255772 CA351765154	156	I>M		No	ClinGen ExAC gnomAD
rs1224360209 CA351765143	157	E>D		No	ClinGen TOPMed
rs1015931293 CA70035725	157	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1324484682 CA351765080	163	A>V		No	ClinGen gnomAD
rs1255384483 CA351765072	164	S>C		No	ClinGen TOPMed
CA351764469 rs1279503844	171	W>*		No	ClinGen gnomAD
TCGA novel	174	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440413371 CA351764449	174	L>V		No	ClinGen gnomAD
CA70033344 rs889240427	175	N>S		No	ClinGen TOPMed
CA2248732 rs756900002	180	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	183	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2248730 rs763544448	184	S>C		No	ClinGen ExAC TOPMed gnomAD
CA351764344 rs1179011112	190	D>G		No	ClinGen TOPMed gnomAD
rs777407649 CA2248712	193	A>T		No	ClinGen ExAC gnomAD
rs1256255753 CA351764057	195	Q>E		No	ClinGen gnomAD
TCGA novel	197	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200293673 CA2248710	197	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2248709 rs200293673	197	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	198	M>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144158403 CA2248708	204	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA351763948 rs1575673673	206	A>P		No	ClinGen Ensembl
rs1333174792 CA351763914	208	M>V		No	ClinGen gnomAD
rs1280291388 CA351763880	209	A>G		No	ClinGen gnomAD
CA70032786 rs13237	210	M>T		No	ClinGen Ensembl
CA2248702 rs761023207	212	A>S		No	ClinGen ExAC gnomAD
CA2248701 rs761023207	212	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	214	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775677537 CA2248700	216	K>E		No	ClinGen ExAC gnomAD
rs1286290124 CA351763040	220	T>P		No	ClinGen gnomAD
CA70028622 rs149452125	228	T>M		No	ClinGen ESP TOPMed gnomAD
CA70028613 rs760425200	235	D>G		No	ClinGen Ensembl
rs752896682 CA2248660	236	D>G		No	ClinGen ExAC gnomAD
TCGA novel	236	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2248657 rs772709721	242	M>V		No	ClinGen ExAC TOPMed gnomAD
rs766486755 CA2248656	243	A>G		No	ClinGen ExAC gnomAD
CA351762774 rs1262573672	245	D>E		No	ClinGen gnomAD
CA2248655 rs762838395	245	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1265452584 CA351762766	247	H>N		No	ClinGen TOPMed
rs1485541088 CA351762754	248	F>C		No	ClinGen gnomAD
rs773157880 CA2248654	248	F>L		No	ClinGen ExAC gnomAD
CA2248652 rs747902918	249	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2248650 rs141689282	250	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA70028555 rs141689282	250	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2248651 rs141689282	250	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1327669511 CA351762734	251	M>I		No	ClinGen gnomAD
CA351762739 rs1242222121	251	M>T		No	ClinGen gnomAD
rs528008390 CA2248649	251	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1436844507 CA351762709	253	K>R		No	ClinGen TOPMed
rs779667562 CA2248648	254	K>R		No	ClinGen ExAC gnomAD
CA2248647 rs758001648	256	L>S		No	ClinGen ExAC gnomAD
CA2248646 rs566913585	257	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA2248645 rs771673988	259	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs756743265 CA351762623	260	I>F		No	ClinGen ExAC TOPMed
rs756743265 CA351762626	260	I>L		No	ClinGen ExAC TOPMed
rs756743265 CA2248644	260	I>V		No	ClinGen ExAC TOPMed

No associated diseases with Q9P0I2

No regional properties for Q9P0I2

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9P0I2

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane ; Multi-pass 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.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

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
Q3ZCB8	EMC3	ER membrane protein complex subunit 3	Bos taurus (Bovine)	PR
Q99KI3	Emc3	ER membrane protein complex subunit 3	Mus musculus (Mouse)	PR
Q5U2V8	Emc3	ER membrane protein complex subunit 3	Rattus norvegicus (Rat)	PR
Q7SXW4	emc3	ER membrane protein complex subunit 3	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MAGPELLLDS	NIRLWVVLPI	VIITFFVGMI	RHYVSILLQS	DKKLTQEQVS	DSQVLIRSRV
70	80	90	100	110	120
LRENGKYIPK	QSFLTRKYYF	NNPEDGFFKK	TKRKVVPPSP	MTDPTMLTDM	MKGNVTNVLP
130	140	150	160	170	180
MILIGGWINM	TFSGFVTTKV	PFPLTLRFKP	MLQQGIELLT	LDASWVSSAS	WYFLNVFGLR
190	200	210	220	230	240
SIYSLILGQD	NAADQSRMMQ	EQMTGAAMAM	PADTNKAFKT	EWEALELTDH	QWALDDVEEE
250	260
LMAKDLHFEG	MFKKELQTSI	F