EMC4 - ER membrane protein complex subunit 4 Gene

Homo sapiens

Also known as PIG17; TMEM85

Gene ID: 51234 | Gene type: protein coding

About EMC4

Cytogenetic location: 15q14 Genomic coordinates (GRCh38): 15:34,225,016-34,230,156 (from NCBI)

This gene has 13 transcripts (splice variants) and 199 orthologues. Ubiquitous expression in fat (RPKM 45.2), brain (RPKM 40.2) and 25 other tissues.

Summary

Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Is integral component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022]

EMC4 Products(3)

mRNA	Protein	Name
NM_001286420.2	NP_001273349.1	ER membrane protein complex subunit 4 isoform b
NM_001351373.2	NP_001338302.1	ER membrane protein complex subunit 4 isoform c
NM_016454.4	NP_057538.1	ER membrane protein complex subunit 4 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
contributes to membrane insertase activity	IMP IMP: Inferred from mutant phenotype	29809151	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	31695625	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence	IDA IDA: Inferred from direct assay	29242231	GOA
involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence	IMP IMP: Inferred from mutant phenotype	29809151	GOA
involved in tail-anchored membrane protein insertion into ER membrane	IDA IDA: Inferred from direct assay	29242231	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of EMC complex	IDA IDA: Inferred from direct assay	22119785	GOA
part of EMC complex	IPI IPI: Inferred from physical interaction	32439656	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	32439656	GOA
located in membrane	IDA IDA: Inferred from direct assay	22119785	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EMC4 Protein Structure

DUF1077

0
100
183 a.a.

Protein Preferred Names

Protein Names

ER membrane protein complex subunit 4

cell proliferation-inducing gene 17 protein

Related Diseases

Diseases

Alias

Ogden Syndrome

OGDNS	N-Terminal Acetyltransferase Deficiency
NATD	N-Alpha-Acetyltransferase
X-Linked Malformation And Infantile Lethality Syndrome	Premature Aging Appearance-Developmental Delay-Cardiac Arrhythmia Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04339	EMC4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	EMC4	VGNC	VGNC:72124
Felis catus	EMC4	VGNC	VGNC:61835
Rattus norvegicus	EMC4	RGD	RGD:1310905
Bos taurus	EMC4	VGNC	VGNC:28465
Mus musculus	EMC4	MGD	MGI:1915282
Canis familiaris	EMC4	VGNC	VGNC:40334

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