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

Gene ID: 51016, updated on 3-Apr-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, Apr 2022]
Expression
Ubiquitous expression in appendix (RPKM 5.4), duodenum (RPKM 4.9) and 25 other tissues See more
Orthologs
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Genomic context

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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

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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. 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
  3. EMC Is Required to Initiate Accurate Membrane Protein Topogenesis. Chitwood PJ, et al. Cell, 2018 Nov 29. PMID 30415835, 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 (24) 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)

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 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_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_047431426.1 → 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

  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

  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

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