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

    Gene ID: 10328, updated on 28-Oct-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 Golgi apparatus and endoplasmic reticulum. Part of EMC complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 7.1), testis (RPKM 6.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EMC8 in Genome Data Viewer
    Location:
    16q24.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (85778624..85799544, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (91844143..91865064, complement)
    RS_2024_09 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 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. EMC Is Required to Initiate Accurate Membrane Protein Topogenesis. Chitwood PJ, et al. Cell, 2018 Nov 29. PMID 30415835, Free PMC Article
    3. 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
    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 (65) 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_2024_08

    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

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

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