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    EMC3 ER membrane protein complex subunit 3 [ Homo sapiens (human) ]

    Gene ID: 55831, updated on 28-Oct-2024

    Summary

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    Official Symbol
    EMC3provided by HGNC
    Official Full Name
    ER membrane protein complex subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:23999
    See related
    Ensembl:ENSG00000125037 MIM:620273; AllianceGenome:HGNC:23999
    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
    POB; TMEM111
    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 endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in fat (RPKM 29.9), testis (RPKM 23.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EMC3 in Genome Data Viewer
    Location:
    3p25.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (9962682..10011118, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (9954666..10003118, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (10004366..10052802, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19413 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9980935-9981732 Neighboring gene cysteine rich with EGF like domains 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9987356-9988018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9988681-9989342 Neighboring gene 3p25 PRRT3 Alu-mediated recombination region Neighboring gene PRRT3 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14052 Neighboring gene proline rich transmembrane protein 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:10018113-10019312 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:10028343-10028990 Neighboring gene EMC3 antisense RNA 1 Neighboring gene FANCD2 pseudogene 1 Neighboring gene CYCS pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:10052831-10053356 Neighboring gene MARK2 pseudogene 2 Neighboring gene CIDEC pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:10066312-10066948 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:10067584-10068219

    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. Coexpression network based on natural variation in human gene expression reveals gene interactions and functions. Nayak RR, et al. Genome Res, 2009 Nov. PMID 19797678, Free PMC Article
    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 (63) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    • FLJ12198

    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 
    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 

    General protein information

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    Preferred Names
    ER membrane protein complex subunit 3
    Names
    30 kDa protein
    partial optokinetic response b
    transmembrane protein 111

    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_001394674.1 → NP_001381603.1  ER membrane protein complex subunit 3

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022007
      Consensus CDS
      CCDS2594.1
      UniProtKB/Swiss-Prot
      B2R4Z9, Q53GH8, Q6ZMC2, Q9P0I2
      UniProtKB/TrEMBL
      A0A8I5KS41
      Related
      ENSP00000245046.2, ENST00000245046.7
      Conserved Domains (1) summary
      pfam01956
      Location:5 → 190
      DUF106; Integral membrane protein DUF106

    2. NM_018447.4 → NP_060917.1  ER membrane protein complex subunit 3

      See identical proteins and their annotated locations for NP_060917.1

      Status: VALIDATED

      Source sequence(s)
      AF157321, BM993642, BU739600, BX113681, DA359966, HY006276, HY241187
      Consensus CDS
      CCDS2594.1
      UniProtKB/Swiss-Prot
      B2R4Z9, Q53GH8, Q6ZMC2, Q9P0I2
      UniProtKB/TrEMBL
      A0A8I5KS41
      Related
      ENSP00000474771.2, ENST00000470827.3
      Conserved Domains (1) summary
      pfam01956
      Location:5 → 190
      DUF106; Integral membrane protein DUF106

    RNA

    1. NR_148535.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC022007, CA310843, DB041952

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      9962682..10011118 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265321.4 → XP_005265378.1  ER membrane protein complex subunit 3 isoform X1

      Conserved Domains (1) summary
      pfam01956
      Location:5 → 188
      DUF106; Integral membrane protein DUF106

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      9954666..10003118 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347252.1 → XP_054203227.1  ER membrane protein complex subunit 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P0I2.3 GenPept UniProtKB/Swiss-Prot:Q9P0I2

    Gene LinkOut

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

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