EMC6 ER membrane protein complex subunit 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EMC6provided by HGNC
Official Full Name: ER membrane protein complex subunit 6provided by HGNC
Primary source: HGNC:HGNC:28430
See related: Ensembl:ENSG00000127774 MIM:620261; AllianceGenome:HGNC:28430
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TMEM93; RAB5IFL
Summary: Contributes to membrane insertase activity. Involved in autophagosome assembly; 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 and integral component of omegasome membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney (RPKM 12.0), testis (RPKM 10.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (3668812..3669665)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (3557867..3558720)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (3572106..3572959)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inhibition of UBA52 induces autophagy via EMC6 to suppress hepatocellular carcinoma tumorigenesis and progression.
Title: Inhibition of UBA52 induces autophagy via EMC6 to suppress hepatocellular carcinoma tumorigenesis and progression.
EMC6 regulates acinar apoptosis via APAF1 in acute and chronic pancreatitis.
Title: EMC6 regulates acinar apoptosis via APAF1 in acute and chronic pancreatitis.
Adenovirus-mediated ectopic overexpression of EMC6 (Ad5-EMC6) decreases the activity of ERK1/2, down-regulates the levels of BCL-2 and increases the ratio of BAX/BCL-2. Ad5-EMC6 mediates anti-tumor activity through the mitochondrial apoptosis pathway. Ad5-EMC6 enhances the sensitivity of gastric cancer cells to the etoposide.
Title: Ad5-EMC6 mediates antitumor activity in gastric cancer cells through the mitochondrial apoptosis pathway.
The expression level of EMC-6 is significantly elevated in cervical cancer, without significant correlation with Beclin1 and Rab5a.
Title: Expression levels and roles of EMC-6, Beclin1, and Rab5a in the cervical cancer.
This is the first study to show that EMC6 induces cell death in gastric cancer cells. The molecular mechanism of how EMC6 functions as a tumor suppressor needs to be further explored.
Title: ER membrane protein complex subunit 6 (EMC6) is a novel tumor suppressor in gastric cancer.
Endoplasmic membrane protein complex subunit 6 (EMC6) interacted with both RAB5A and BECN1/Beclin 1 and colocalized with the omegasome marker ZFYVE1/DFCP1.
Title: A novel ER-localized transmembrane protein, EMC6, interacts with RAB5A and regulates cell autophagy.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78618 (e-PCR)
- UniSTS:16187

SHGC-36073 (e-PCR)
- UniSTS:8004

SHGC-132568 (e-PCR)
- UniSTS:173951

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to membrane insertase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein insertion into ER membrane by stop-transfer membrane-anchor sequence	IDA Inferred from Direct Assay more info	PubMed
involved_in protein insertion into ER membrane by stop-transfer membrane-anchor sequence	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tail-anchored membrane protein insertion into ER membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in tail-anchored membrane protein insertion into ER membrane	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of EMC complex	IBA Inferred from Biological aspect of Ancestor more info
part_of EMC complex	IDA Inferred from Direct Assay more info	PubMed
part_of EMC complex	IPI Inferred from Physical Interaction more info	PubMed
part_of EMC complex	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in omegasome membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ER membrane protein complex subunit 6

Names: transmembrane protein 93

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001014764.3 → NP_001014764.1 ER membrane protein complex subunit 6

See identical proteins and their annotated locations for NP_001014764.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AA161105, BU931404, HY014822

Consensus CDS

CCDS11033.1

UniProtKB/Swiss-Prot

Q9BV81

Related

ENSP00000380322.1, ENST00000397133.2

Conserved Domains (1) summary

pfam07019
Location:25 → 101

Rab5ip; Rab5-interacting protein (Rab5ip)
NM_031298.4 → NP_112588.1 ER membrane protein complex subunit 6

See identical proteins and their annotated locations for NP_112588.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AA161105, BM825446, BU931404, HY014822

Consensus CDS

CCDS11033.1

UniProtKB/Swiss-Prot

Q9BV81

Related

ENSP00000248378.4, ENST00000248378.6

Conserved Domains (1) summary

pfam07019
Location:25 → 101

Rab5ip; Rab5-interacting protein (Rab5ip)