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

    Gene ID: 51016, updated on 17-Jun-2024

    Summary

    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, Apr 2022]
    Expression
    Ubiquitous expression in appendix (RPKM 5.4), duodenum (RPKM 4.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See EMC9 in Genome Data Viewer
    Location:
    14q12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24138965..24141591, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18337276..18340758, complement)
    105.20220307 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

    Expression

    • 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

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001346874.2NP_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:18114
      MPN; Mpr1p, Pad1p N-terminal (MPN) domains
    2. NM_001346875.2NP_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:18114
      MPN; Mpr1p, Pad1p N-terminal (MPN) domains
    3. NM_001346876.2NP_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:18114
      MPN; Mpr1p, Pad1p N-terminal (MPN) domains
    4. NM_001346877.2NP_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:18114
      MPN; Mpr1p, Pad1p N-terminal (MPN) domains
    5. NM_016049.4NP_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:6188
      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_000014.9 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      H0YNH6
    2. XM_005267721.6XP_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:6188
      MPN_UPF0172; Mov34/MPN/PAD-1 family: UPF0172 family of unknown function includes neighbor of COX4 (Noc4p)
    3. XM_047431427.1XP_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_054332346.1XP_054188321.1  ER membrane protein complex subunit 9 isoform X1

      UniProtKB/Swiss-Prot
      D3DS60, Q9BUM3, Q9Y3B6
      UniProtKB/TrEMBL
      Q6UJX3
    2. XM_054332347.1XP_054188322.1  ER membrane protein complex subunit 9 isoform X2

      UniProtKB/TrEMBL
      H0YNH6
    3. XM_054332348.1XP_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_054376159.1XP_054232134.1  ER membrane protein complex subunit 9 isoform X1

      UniProtKB/Swiss-Prot
      D3DS60, Q9BUM3, Q9Y3B6
      UniProtKB/TrEMBL
      Q6UJX3
    2. XM_054376160.1XP_054232135.1  ER membrane protein complex subunit 9 isoform X3