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

Gene ID: 83460, updated on 7-Apr-2024

Summary

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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
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Genomic context

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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_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371493 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:3543723-3544266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3557631-3558349 Neighboring gene cystinosin, lysosomal cystine transporter Neighboring gene P2RX5-TAX1BP3 readthrough (NMD candidate) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3570666-3571197 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:3571198-3571728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8017 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3572261-3572791 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3572792-3573322 Neighboring gene ribosomal protein L21 pseudogene 125 Neighboring gene Tax1 binding protein 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3591902-3592810 Neighboring gene purinergic receptor P2X 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11513 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3598520-3599036 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8018 Neighboring gene MPRA-validated peak2690 silencer Neighboring gene MPRA-validated peak2691 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:3627127-3627882 Neighboring gene integrin subunit alpha E Neighboring gene histone H3 associated protein kinase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. ER membrane protein complex subunit 6 (EMC6) is a novel tumor suppressor in gastric cancer. Wang X, et al. BMB Rep, 2017 Aug. PMID 28648145, Free PMC Article
  2. Ad5-EMC6 mediates antitumor activity in gastric cancer cells through the mitochondrial apoptosis pathway. Li R, et al. Biochem Biophys Res Commun, 2019 Jun 4. PMID 30982575
  3. EMC6 regulates acinar apoptosis via APAF1 in acute and chronic pancreatitis. Tan JH, et al. Cell Death Dis, 2020 Nov 11. PMID 33177505, Free PMC Article
  4. Expression levels and roles of EMC-6, Beclin1, and Rab5a in the cervical cancer. Shen MX, et al. Eur Rev Med Pharmacol Sci, 2017 Jul. PMID 28742203
  5. A novel ER-localized transmembrane protein, EMC6, interacts with RAB5A and regulates cell autophagy. Li Y, et al. Autophagy, 2013 Feb 1. PMID 23182941, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. EMC6 regulates acinar apoptosis via APAF1 in acute and chronic pancreatitis.
    Title: EMC6 regulates acinar apoptosis via APAF1 in acute and chronic pancreatitis.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
Submit: New GeneRIF Correction

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC2963

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)

  1. 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)

  2. 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)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    3668812..3669665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    3557867..3558720
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BV81.1 GenPept UniProtKB/Swiss-Prot:Q9BV81

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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