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EMC1 ER membrane protein complex subunit 1 [ Homo sapiens (human) ]

Gene ID: 23065, updated on 13-Feb-2019

Summary

Official Symbol
EMC1provided by HGNC
Official Full Name
ER membrane protein complex subunit 1provided by HGNC
Primary source
HGNC:HGNC:28957
See related
Ensembl:ENSG00000127463 MIM:616846
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAVIPMR; KIAA0090
Summary
This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012]
Expression
Ubiquitous expression in placenta (RPKM 10.5), brain (RPKM 9.0) and 25 other tissues See more
Orthologs

Genomic context

See EMC1 in Genome Data Viewer
Location:
1p36.13
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (19215664..19251559, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (19542158..19578053, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376815 Neighboring gene ubiquitin protein ligase E3 component n-recognin 4 Neighboring gene EMC1 antisense RNA 1 Neighboring gene MRT4 homolog, ribosome maturation factor Neighboring gene aldo-keto reductase family 7 like (gene/pseudogene) Neighboring gene aldo-keto reductase family 7 member A3

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with KIAA0090 in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0090

Gene Ontology Provided by GOA

Process Evidence Code Pubs
protein folding in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
ER membrane protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ER membrane protein complex IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ER membrane protein complex subunit 1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_032948.1 RefSeqGene

    Range
    5001..40896
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271427.1NP_001258356.1  ER membrane protein complex subunit 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001258356.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal aa, compared to isoform 1.
    Source sequence(s)
    AL357564, BX648708, D42044, DB097686
    Consensus CDS
    CCDS59191.1
    UniProtKB/Swiss-Prot
    Q8N766
    Related
    ENSP00000364345.3, ENST00000375199.7
    Conserved Domains (2) summary
    pfam07774
    Location:786991
    DUF1620; Protein of unknown function (DUF1620)
    pfam13360
    Location:28242
    PQQ_2; PQQ-like domain
  2. NM_001271428.1NP_001258357.1  ER membrane protein complex subunit 1 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central region, compared to variant 1. The resulting isoform (2) lacks an internal aa, compared to isoform 1.
    Source sequence(s)
    AL357564, BC034589, BX648708, DB097686
    UniProtKB/Swiss-Prot
    Q8N766
    Conserved Domains (2) summary
    pfam07774
    Location:786991
    DUF1620; Protein of unknown function (DUF1620)
    pfam13360
    Location:28242
    PQQ_2; PQQ-like domain
  3. NM_001271429.1NP_001258358.1  ER membrane protein complex subunit 1 isoform 4 precursor

    See identical proteins and their annotated locations for NP_001258358.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (4) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AK075563, AL357564, BC034589, BX648708, DB097686
    Consensus CDS
    CCDS59190.1
    UniProtKB/Swiss-Prot
    Q8N766
    Related
    ENSP00000364354.3, ENST00000375208.7
    Conserved Domains (1) summary
    pfam07774
    Location:765970
    DUF1620; Protein of unknown function (DUF1620)
  4. NM_015047.3NP_055862.1  ER membrane protein complex subunit 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_055862.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL357564, BC034589, BX648708
    Consensus CDS
    CCDS190.1
    UniProtKB/Swiss-Prot
    Q8N766
    Related
    ENSP00000420608.1, ENST00000477853.5
    Conserved Domains (2) summary
    pfam07774
    Location:787992
    DUF1620; Protein of unknown function (DUF1620)
    cl11493
    Location:60218
    PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    19215664..19251559 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245788.2XP_005245845.1  ER membrane protein complex subunit 1 isoform X2

    Conserved Domains (2) summary
    pfam07774
    Location:789994
    DUF1620; Protein of unknown function (DUF1620)
    pfam13360
    Location:28242
    PQQ_2; PQQ-like domain
  2. XM_005245787.2XP_005245844.1  ER membrane protein complex subunit 1 isoform X1

    Conserved Domains (2) summary
    pfam07774
    Location:790995
    DUF1620; Protein of unknown function (DUF1620)
    pfam13360
    Location:28242
    PQQ_2; PQQ-like domain
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