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EMC8 ER membrane protein complex subunit 8 [ Homo sapiens (human) ]

Gene ID: 10328, updated on 3-Apr-2024

Summary

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Official Symbol
EMC8provided by HGNC
Official Full Name
ER membrane protein complex subunit 8provided by HGNC
Primary source
HGNC:HGNC:7864
See related
Ensembl:ENSG00000131148 MIM:604886; AllianceGenome:HGNC:7864
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
NOC4; COX4NB; C16orf2; C16orf4; FAM158B
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. Located in cytosol. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 7.1), testis (RPKM 6.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
16q24.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (85778624..85799544, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (91844143..91865064, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (85812230..85833150, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85722953-85723454 Neighboring gene uncharacterized LOC124903740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:85729233-85729805 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:85735359-85735574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:85738821-85739513 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:85743177-85743746 Neighboring gene chromosome 16 open reading frame 74 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:85762391-85763258 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11285 Neighboring gene microRNA 1910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85808859-85809359 Neighboring gene RNA, U1 small nuclear 103, pseudogene Neighboring gene uncharacterized LOC101928557 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:85832503-85833109 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7824 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7825 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:85841166-85841873 Neighboring gene cytochrome c oxidase subunit 4I1 Neighboring gene iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene

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. The 5' region of the COX4 gene contains a novel overlapping gene, NOC4. Bachman NJ, et al. Mamm Genome, 1999 May. PMID 10337626
  2. Structural basis for membrane insertion by the human ER membrane protein complex. Pleiner T, et al. Science, 2020 Jul 24. PMID 32439656, Free PMC Article
  3. EMC Is Required to Initiate Accurate Membrane Protein Topogenesis. Chitwood PJ, et al. Cell, 2018 Nov 29. PMID 30415835, Free PMC Article
  4. The ER membrane protein complex interacts cotranslationally to enable biogenesis of multipass membrane proteins. Shurtleff MJ, et al. Elife, 2018 May 29. PMID 29809151, Free PMC Article
  5. The ER membrane protein complex is a transmembrane domain insertase. Guna A, et al. Science, 2018 Jan 26. PMID 29242231, Free PMC Article

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
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

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 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 
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 
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
located_in endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in membrane HDA PubMed 

General protein information

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Preferred Names
ER membrane protein complex subunit 8
Names
COX4 neighbor
family with sequence similarity 158, member B
neighbor of COX4

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_001142288.2 → NP_001135760.1  ER membrane protein complex subunit 8 isoform 2

    See identical proteins and their annotated locations for NP_001135760.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter C-terminus compared to isoform 1.
    Source sequence(s)
    AC018695, BE855452, BP307869
    Consensus CDS
    CCDS45541.1
    UniProtKB/Swiss-Prot
    O43402
    Related
    ENSP00000391730.1, ENST00000435200.2
    Conserved Domains (1) summary
    pfam03665
    Location:4 → 126
    UPF0172; Uncharacterized protein family (UPF0172)

  2. NM_006067.5 → NP_006058.1  ER membrane protein complex subunit 8 isoform 1

    See identical proteins and their annotated locations for NP_006058.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC018695, BC020250, BP307869
    Consensus CDS
    CCDS10954.1
    UniProtKB/Swiss-Prot
    C9JB21, O43402
    UniProtKB/TrEMBL
    Q53Y03
    Related
    ENSP00000253457.3, ENST00000253457.8
    Conserved Domains (1) summary
    cd08060
    Location:6 → 199
    MPN_UPF0172; Mov34/MPN/PAD-1 family: UPF0172 family of unknown function includes neighbor of COX4 (Noc4p)

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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    85778624..85799544 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022867.2 → XP_016878356.1  ER membrane protein complex subunit 8 isoform X1

  2. XM_011522813.4 → XP_011521115.1  ER membrane protein complex subunit 8 isoform X2

    Conserved Domains (1) summary
    cd08060
    Location:6 → 103
    MPN_UPF0172; Mov34/MPN/PAD-1 family: UPF0172 family of unknown function includes neighbor of COX4 (Noc4p)

RNA

  1. XR_001751817.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    91844143..91865064 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379383.1 → XP_054235358.1  ER membrane protein complex subunit 8 isoform X1

  2. XM_054379385.1 → XP_054235360.1  ER membrane protein complex subunit 8 isoform X3

  3. XM_054379384.1 → XP_054235359.1  ER membrane protein complex subunit 8 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43402.1 GenPept UniProtKB/Swiss-Prot:O43402

Gene LinkOut

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