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    Emc1 ER membrane protein complex subunit 1 [ Mus musculus (house mouse) ]

    Gene ID: 230866, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Emc1provided by MGI
    Official Full Name
    ER membrane protein complex subunit 1provided by MGI
    Primary source
    MGI:MGI:2443696
    See related
    Ensembl:ENSMUSG00000078517 AllianceGenome:MGI:2443696
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    2700016F22Rik
    Summary
    Predicted to contribute to membrane insertase activity. Predicted to be involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum. Is expressed in lung. Human ortholog(s) of this gene implicated in cerebellar atrophy, visual impairment, and psychomotor retardation. Orthologous to human EMC1 (ER membrane protein complex subunit 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in subcutaneous fat pad adult (RPKM 16.2), ovary adult (RPKM 15.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Emc1 in Genome Data Viewer
    Location:
    4 D3; 4 70.66 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (139079898..139106046)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (139352587..139378735)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene cyclin D3, pseudogene Neighboring gene mRNA turnover 4, ribosome maturation factor Neighboring gene STARR-seq mESC enhancer starr_11828 Neighboring gene STARR-seq mESC enhancer starr_11829 Neighboring gene STARR-seq mESC enhancer starr_11830 Neighboring gene ubiquitin protein ligase E3 component n-recognin 4 Neighboring gene nuclear encoded tRNA valine 1 (anticodon AAC) Neighboring gene intermediate filament family orphan 2 Neighboring gene VISTA enhancer mm1506 Neighboring gene STARR-seq mESC enhancer starr_11836 Neighboring gene STARR-positive B cell enhancer ABC_E6246

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Deletion of Emc1 in photoreceptor cells causes retinal degeneration in mice. Li X, et al. FEBS J, 2023 Sep. PMID 37098815
    2. EMC3 coordinates surfactant protein and lipid homeostasis required for respiration. Tang X, et al. J Clin Invest, 2017 Dec 1. PMID 29083321, Free PMC Article
    3. The ER membrane protein complex is a transmembrane domain insertase. Guna A, et al. Science, 2018 Jan 26. PMID 29242231, Free PMC Article
    4. Contribution of calumin to embryogenesis through participation in the endoplasmic reticulum-associated degradation activity. Yamamoto S, et al. Dev Biol, 2014 Sep 1. PMID 25009997
    5. ZMPSTE24 defends against influenza and other pathogenic viruses. Fu B, et al. J Exp Med, 2017 Apr 3. PMID 28246125, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deletion of Emc1 in photoreceptor cells causes retinal degeneration in mice.
      Title: Deletion of Emc1 in photoreceptor cells causes retinal degeneration in mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: Ubr4

    Homology

    Clone Names

    • KIAA0090, RP23-371E13.1

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    contributes_to membrane insertase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    contributes_to membrane insertase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein insertion into ER membrane by stop-transfer membrane-anchor sequence ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein insertion into ER membrane by stop-transfer membrane-anchor sequence ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in tail-anchored membrane protein insertion into ER membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in tail-anchored membrane protein insertion into ER membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of EMC complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of EMC complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of EMC complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ER membrane protein complex subunit 1
    Names
    novel DUF1620 domain containing protein

    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_001039200.2 → NP_001034289.1  ER membrane protein complex subunit 1 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AK049061, AK089289, AL807833, BY281473
      Consensus CDS
      CCDS18846.1
      UniProtKB/TrEMBL
      A1L2Z3
      Related
      ENSMUSP00000049034.8, ENSMUST00000042096.15
      Conserved Domains (2) summary
      pfam07774
      Location:788 → 993
      DUF1620; Protein of unknown function (DUF1620)
      pfam13360
      Location:63 → 254
      PQQ_2; PQQ-like domain

    2. NM_146157.4 → NP_666269.2  ER membrane protein complex subunit 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_666269.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK049061, AL807833, BY281473
      Consensus CDS
      CCDS38933.1
      UniProtKB/Swiss-Prot
      B2RTJ5, Q3TCG4, Q6ZQJ4, Q8C7X2, Q8K3W8
      UniProtKB/TrEMBL
      A1L2Z3
      Related
      ENSMUSP00000137103.2, ENSMUST00000179784.9
      Conserved Domains (2) summary
      pfam07774
      Location:791 → 996
      DUF1620; Protein of unknown function (DUF1620)
      pfam13360
      Location:63 → 254
      PQQ_2; PQQ-like domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      139079898..139106046
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C7X2.1 GenPept UniProtKB/Swiss-Prot:Q8C7X2

    Gene LinkOut

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

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