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

Gene ID: 55831, updated on 5-Mar-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. Is integral component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 29.9), testis (RPKM 23.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3p25.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (9962682..10011118, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (9954666..10003118, complement)
105.20220307 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
  • 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. 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 (55) 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_2023_10

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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