AiPD: Autoinhibited Protein Database

Q5J8M3

Gene name	EMC4 (TMEM85, HSPC184, PIG17)
Protein name	ER membrane protein complex subunit 4
Names	Cell proliferation-inducing gene 17 protein, Transmembrane protein 85
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51234
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-91 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-91 (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

6 structures for Q5J8M3

Entry ID	Method	Resolution	Chain	Position	Source
6Z3W	EM	640 A	D	1-183	PDB
7ADO	EM	339 A	D	1-183	PDB
7ADP	EM	360 A	D	1-183	PDB
8EOI	EM	340 A	D	14-183	PDB
8S9S	EM	360 A	4	1-183	PDB
AF-Q5J8M3-F1	Predicted				AlphaFoldDB

118 variants for Q5J8M3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA391614293 rs1302858594	2	T>M		No	ClinGen gnomAD
CA7463591 rs751425103	3	A>V		No	ClinGen ExAC TOPMed gnomAD
CA391614305 rs1004251131	4	Q>H		No	ClinGen TOPMed gnomAD
rs1449571358 CA391614316	6	G>A		No	ClinGen TOPMed gnomAD
rs1036711310 CA268645050	6	G>C		No	ClinGen TOPMed gnomAD
rs1036711310 CA391614313	6	G>S		No	ClinGen TOPMed gnomAD
rs1449571358 CA391614317	6	G>V		No	ClinGen TOPMed gnomAD
CA391614325 rs1253004264	8	V>E		No	ClinGen gnomAD
rs1132869 CA268645059	8	V>L		No	ClinGen TOPMed gnomAD
rs139134705 CA7463592	9	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391614329 rs1273015741	9	A>P		No	ClinGen gnomAD
CA391614338 rs1195991372	10	N>S		No	ClinGen TOPMed gnomAD
CA391614356 rs1388907985	13	R>Q		No	ClinGen gnomAD
CA391614361 rs1168915731	14	R>S		No	ClinGen gnomAD
rs1263575140 CA391614401	17	W>*		No	ClinGen TOPMed
rs1439057985 CA391614411	18	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA391614420 rs1403750249	18	A>V		No	ClinGen gnomAD
CA7463593 rs371572098	19	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs752656560 CA391614438	20	E>A		No	ClinGen ExAC TOPMed gnomAD
CA391614443 rs756065447	20	E>D		No	ClinGen ExAC TOPMed gnomAD
CA7463594 rs752656560	20	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	22	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA268645105 rs556063247	29	R>K		No	ClinGen 1000Genomes gnomAD
CA7463617 rs532864756	30	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA391614708 rs779237261	34	R>G		No	ClinGen ExAC gnomAD
rs746057567 CA7463619	34	R>Q		No	ClinGen ExAC gnomAD
CA7463618 rs779237261	34	R>W		No	ClinGen ExAC gnomAD
CA7463620 rs140809470	35	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145064675 CA7463621	36	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	38	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391614764 rs1595380194	39	G>E		No	ClinGen Ensembl
CA7463625 rs748866820	43	Y>C		No	ClinGen ExAC gnomAD
CA391614824 rs1217016357	44	P>Q		No	ClinGen gnomAD
CA391614828 rs1277323721	45	V>I		No	ClinGen gnomAD
CA7463626 rs770321490	46	G>R		No	ClinGen ExAC gnomAD
TCGA novel	47	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1462123592 CA391614846	47	Y>N		No	ClinGen gnomAD
CA391614868 rs868661918	49	D>H		No	ClinGen gnomAD
CA268645454 rs868661918	49	D>N		No	ClinGen gnomAD
rs759140187 CA7463628	51	Q>E		No	ClinGen ExAC gnomAD
rs79389628 CA7463629	55	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs79389628 CA391614924	55	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1194245175 CA391614942	58	Q>E		No	ClinGen gnomAD
CA7463631 rs775438394	59	E>D		No	ClinGen ExAC gnomAD
CA7463632 rs760532294	62	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7463633 rs764194800	63	I>S		No	ClinGen ExAC TOPMed gnomAD
rs776297076 CA7463672	68	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7463673 rs761614836	68	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769681976 CA7463674	69	C>G		No	ClinGen ExAC gnomAD
rs773200482 CA7463675	71	D>N		No	ClinGen ExAC gnomAD
rs763065610 CA7463676	73	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7463678 rs766465858	77	L>H		No	ClinGen ExAC
rs781556627 CA391615453	78	K>I		No	ClinGen gnomAD
CA268647408 rs781556627	78	K>R		No	ClinGen gnomAD
TCGA novel	79	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1595381467 CA391615482	80	I>M		No	ClinGen Ensembl
CA391615484 rs1442012863	81	P>T		No	ClinGen gnomAD
rs767720125 CA7463681	82	M>V		No	ClinGen ExAC gnomAD
CA268647422 rs11544434	84	L>F		No	ClinGen Ensembl
rs1336363681 CA391615534	85	F>S		No	ClinGen gnomAD
TCGA novel	86	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391615568 rs1256898544	88	Y>H		No	ClinGen TOPMed
rs1345585662 CA391615581	89	M>V		No	ClinGen gnomAD
rs1406281398 CA391615644	93	T>I		No	ClinGen gnomAD
rs764549468 CA7463684	94	I>V		No	ClinGen ExAC gnomAD
rs1288781071 CA391615685	97	F>L		No	ClinGen TOPMed
TCGA novel	98	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs11544437 VAR_053775 CA268647458	98	P>T		No	ClinGen UniProt Ensembl dbSNP
rs1231933438 CA391615710	99	T>A		No	ClinGen gnomAD
rs757791205 CA7463686	99	T>N		No	ClinGen ExAC gnomAD
rs1348292430 CA391615727	100	M>R		No	ClinGen TOPMed gnomAD
CA391615726 rs1348292430	100	M>T		No	ClinGen TOPMed gnomAD
CA391615738 rs1220787890	101	M>I		No	ClinGen gnomAD
rs896810444 CA268647463	103	C>G		No	ClinGen gnomAD
rs1436936254 CA391615779	107	W>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
RCV000293786 rs779743332 CA10605285	108	R>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA391615788 rs1341869370	108	R>Q		No	ClinGen TOPMed
rs746456363 CA7463688	109	P>L		No	ClinGen ExAC gnomAD
CA268647519 rs181943133	112	A>E		No	ClinGen 1000Genomes
CA7463690 rs754603801	114	M>T		No	ClinGen ExAC TOPMed gnomAD
CA268647524 rs11544438	115	A>P		No	ClinGen TOPMed
CA391615830 rs11544438	115	A>T		No	ClinGen TOPMed
TCGA novel	118	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA268648260 rs931224655	121	K>N		No	ClinGen TOPMed gnomAD
CA7463717 rs377044886	122	M>I		No	ClinGen ESP ExAC gnomAD
CA7463719 rs760955536	127	S>N		No	ClinGen ExAC TOPMed gnomAD
CA7463720 rs764181409	128	Q>P		No	ClinGen ExAC gnomAD
rs764181409 CA7463721	128	Q>R		No	ClinGen ExAC gnomAD
CA7463723 rs762243381	135	V>G		No	ClinGen ExAC gnomAD
CA391616025 rs1341711574	137	L>P		No	ClinGen gnomAD
CA7463727 rs116858574	138	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750566220 CA7463728	141	L>V		No	ClinGen ExAC gnomAD
rs1288532503 CA391616096	148	V>G		No	ClinGen gnomAD
rs755816463 CA7463729	148	V>I		No	ClinGen ExAC gnomAD
CA391616108 rs1484909769	150	K>T		No	ClinGen gnomAD
rs777384649 CA7463730	152	Q>*		No	ClinGen ExAC gnomAD
CA7463731 rs753674123	152	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs757042470 CA7463732	154	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1366346145 CA391616133	154	M>L		No	ClinGen TOPMed
rs1366346145 CA391616134	154	M>V		No	ClinGen TOPMed
rs1179813697 CA391616144	155	G>E		No	ClinGen gnomAD
CA7463735 rs771837784	161	A>P		No	ClinGen ExAC gnomAD
rs771837784 CA391616179	161	A>S		No	ClinGen ExAC gnomAD
rs1040431132 CA268648435	162	S>L		No	ClinGen TOPMed gnomAD
rs1040431132 CA391616188	162	S>W		No	ClinGen TOPMed gnomAD
rs1327528317 CA391616243	170	P>A		No	ClinGen TOPMed gnomAD
rs776958807 CA7463740	170	P>L		No	ClinGen ExAC gnomAD
rs577928748 CA268648484	171	P>T		No	ClinGen Ensembl
TCGA novel	172	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1226038092 CA391616571	173	R>G		No	ClinGen TOPMed
rs138144365 CA7463778	173	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs764819865 CA7463779	174	M>T		No	ClinGen ExAC gnomAD
CA7463780 rs750279462	175	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA391616615 rs1447229866	178	G>D		No	ClinGen TOPMed
CA391616617 rs1447229866	178	G>V		No	ClinGen TOPMed
CA7463782 rs766403870	180	G>R		No	ClinGen ExAC gnomAD
CA391616632 rs1423919673	180	G>V		No	ClinGen gnomAD
CA7463784 rs372229813	184	L>R		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q5J8M3

No regional properties for Q5J8M3

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q5J8M3

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane ; Multi-pass membrane protein	Could also be a single-pass transmembrane protein with cytosolic N-terminus and lumenal C-terminus
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

3 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
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.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3T0K8	EMC4	ER membrane protein complex subunit 4	Bos taurus (Bovine)	PR
Q9CZX9	Emc4	ER membrane protein complex subunit 4	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MTAQGGLVAN	RGRRFKWAIE	LSGPGGGSRG	RSDRGSGQGD	SLYPVGYLDK	QVPDTSVQET
70	80	90	100	110	120
DRILVEKRCW	DIALGPLKQI	PMNLFIMYMA	GNTISIFPTM	MVCMMAWRPI	QALMAISATF
130	140	150	160	170	180
KMLESSSQKF	LQGLVYLIGN	LMGLALAVYK	CQSMGLLPTH	ASDWLAFIEP	PERMEFSGGG

LLL