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    EMC9 ER membrane protein complex subunit 9 [ Homo sapiens (human) ]

    Gene ID: 51016, updated on 10-Dec-2024

    Summary

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    Official Symbol
    EMC9provided by HGNC
    Official Full Name
    ER membrane protein complex subunit 9provided by HGNC
    Primary source
    HGNC:HGNC:20273
    See related
    Ensembl:ENSG00000100908 AllianceGenome:HGNC:20273
    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
    CGI-112; FAM158A; C14orf122
    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 cytoplasm. Part of EMC complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in appendix (RPKM 5.4), duodenum (RPKM 4.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EMC9 in Genome Data Viewer
    Location:
    14q12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24138965..24141591, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18337276..18340758, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24608174..24610800, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene fat storage inducing transmembrane protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5624 Neighboring gene proteasome activator subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5625 Neighboring gene microRNA 7703 Neighboring gene proteasome activator subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8190 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:24616442-24616942 Neighboring gene ring finger protein 31 Neighboring gene RNA, 5S ribosomal pseudogene 383

    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. Circular RNA circ-FAM158A promotes retinoblastoma progression by regulating miR-138-5p/SLC7A5 axis. Zheng T, et al. Exp Eye Res, 2021 Oct. PMID 34102206
    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 (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circular RNA circ-FAM158A promotes retinoblastoma progression by regulating miR-138-5p/SLC7A5 axis.
      Title: Circular RNA circ-FAM158A promotes retinoblastoma progression by regulating miR-138-5p/SLC7A5 axis.
    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

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ER membrane protein complex subunit 9
    Names
    UPF0172 protein FAM158A
    family with sequence similarity 158, member A

    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_001346874.2 → NP_001333803.1  ER membrane protein complex subunit 9 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), as well as variants 3-5, encodes isoform b.
      Source sequence(s)
      AL136295
      Consensus CDS
      CCDS86377.1
      UniProtKB/TrEMBL
      H0YNH6
      Conserved Domains (1) summary
      cl13996
      Location:18 → 114
      MPN; Mpr1p, Pad1p N-terminal (MPN) domains

    2. NM_001346875.2 → NP_001333804.1  ER membrane protein complex subunit 9 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variants 2, 4, and 5, encodes isoform b.
      Source sequence(s)
      AL136295
      Consensus CDS
      CCDS86377.1
      UniProtKB/TrEMBL
      H0YNH6
      Conserved Domains (1) summary
      cl13996
      Location:18 → 114
      MPN; Mpr1p, Pad1p N-terminal (MPN) domains

    3. NM_001346876.2 → NP_001333805.1  ER membrane protein complex subunit 9 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variants 2, 3, and 5, encodes isoform b.
      Source sequence(s)
      AL136295
      Consensus CDS
      CCDS86377.1
      UniProtKB/TrEMBL
      H0YNH6
      Related
      ENSP00000454016.1, ENST00000560403.5
      Conserved Domains (1) summary
      cl13996
      Location:18 → 114
      MPN; Mpr1p, Pad1p N-terminal (MPN) domains

    4. NM_001346877.2 → NP_001333806.1  ER membrane protein complex subunit 9 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variants 2-4, encodes isoform b.
      Source sequence(s)
      AL136295
      Consensus CDS
      CCDS86377.1
      UniProtKB/TrEMBL
      H0YNH6
      Conserved Domains (1) summary
      cl13996
      Location:18 → 114
      MPN; Mpr1p, Pad1p N-terminal (MPN) domains

    5. NM_016049.4 → NP_057133.2  ER membrane protein complex subunit 9 isoform a

      See identical proteins and their annotated locations for NP_057133.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AL136295, BC002491
      Consensus CDS
      CCDS9613.1
      UniProtKB/Swiss-Prot
      D3DS60, Q9BUM3, Q9Y3B6
      UniProtKB/TrEMBL
      Q6UJX3
      Related
      ENSP00000216799.4, ENST00000216799.9
      Conserved Domains (1) summary
      cd08060
      Location:6 → 188
      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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      24138965..24141591 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431426.1 → XP_047287382.1  ER membrane protein complex subunit 9 isoform X2

      UniProtKB/TrEMBL
      H0YNH6

    2. XM_005267721.6 → XP_005267778.1  ER membrane protein complex subunit 9 isoform X1

      See identical proteins and their annotated locations for XP_005267778.1

      UniProtKB/Swiss-Prot
      D3DS60, Q9BUM3, Q9Y3B6
      UniProtKB/TrEMBL
      Q6UJX3
      Related
      ENSP00000403210.2, ENST00000419198.6
      Conserved Domains (1) summary
      cd08060
      Location:6 → 188
      MPN_UPF0172; Mov34/MPN/PAD-1 family: UPF0172 family of unknown function includes neighbor of COX4 (Noc4p)

    3. XM_047431427.1 → XP_047287383.1  ER membrane protein complex subunit 9 isoform X3

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654722.1 Reference GRCh38.p14 PATCHES

      Range
      439943..443427 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332346.1 → XP_054188321.1  ER membrane protein complex subunit 9 isoform X1

      UniProtKB/Swiss-Prot
      D3DS60, Q9BUM3, Q9Y3B6
      UniProtKB/TrEMBL
      Q6UJX3

    2. XM_054332347.1 → XP_054188322.1  ER membrane protein complex subunit 9 isoform X2

      UniProtKB/TrEMBL
      H0YNH6

    3. XM_054332348.1 → XP_054188323.1  ER membrane protein complex subunit 9 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      18337276..18340758 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376159.1 → XP_054232134.1  ER membrane protein complex subunit 9 isoform X1

      UniProtKB/Swiss-Prot
      D3DS60, Q9BUM3, Q9Y3B6
      UniProtKB/TrEMBL
      Q6UJX3

    2. XM_054376160.1 → XP_054232135.1  ER membrane protein complex subunit 9 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y3B6.3 GenPept UniProtKB/Swiss-Prot:Q9Y3B6

    Gene LinkOut

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

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