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

Gene ID: 55831, updated on 5-Feb-2023

Summary

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 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

See EMC3 in Genome Data Viewer
Location:
3p25.3
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (9962682..10011118, complement)
110 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 cysteine rich with EGF like domains 1 Neighboring gene 3p25 PRRT3 Alu-mediated recombination region Neighboring gene PRRT3 antisense RNA 1 Neighboring gene proline rich transmembrane protein 3 Neighboring gene EMC3 antisense RNA 1 Neighboring gene FANCD2 pseudogene 1 Neighboring gene CYCS pseudogene 10 Neighboring gene MARK2 pseudogene 2 Neighboring gene CIDEC pseudogene 1

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
Component Evidence Code Pubs
part_of EMC complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022007
    Consensus CDS
    CCDS2594.1
    UniProtKB/Swiss-Prot
    Q6ZMC2
    Related
    ENSP00000245046.2, ENST00000245046.7
    Conserved Domains (1) summary
    pfam01956
    Location:5190
    DUF106; Integral membrane protein DUF106
  2. NM_018447.4NP_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
    Q6ZMC2, Q9P0I2
    Related
    ENSP00000474771.2, ENST00000470827.3
    Conserved Domains (1) summary
    pfam01956
    Location:5190
    DUF106; Integral membrane protein DUF106

RNA

  1. NR_148535.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC022007, CA310843, DB041952

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_005265321.4XP_005265378.1  ER membrane protein complex subunit 3 isoform X1

    Conserved Domains (1) summary
    pfam01956
    Location:5188
    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)