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Aliases for EMC1 Gene

Aliases for EMC1 Gene

  • ER Membrane Protein Complex Subunit 1 2 3 5
  • KIAA0090 2 3 4

External Ids for EMC1 Gene

Previous HGNC Symbols for EMC1 Gene

  • KIAA0090

Previous GeneCards Identifiers for EMC1 Gene

  • GC01M019543

Summaries for EMC1 Gene

Entrez Gene Summary for EMC1 Gene

  • 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]

GeneCards Summary for EMC1 Gene

EMC1 (ER Membrane Protein Complex Subunit 1) is a Protein Coding gene. Diseases associated with EMC1 include Urbach-Wiethe Disease and Chickenpox.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMC1 Gene

Genomics for EMC1 Gene

Regulatory Elements for EMC1 Gene

Enhancers for EMC1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EMC1 on UCSC Golden Path with GeneCards custom track

Promoters for EMC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EMC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EMC1 Gene

19,215,664 bp from pter
19,251,559 bp from pter
35,896 bases
Minus strand

Genomic View for EMC1 Gene

Genes around EMC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMC1 Gene

Proteins for EMC1 Gene

  • Protein details for EMC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ER membrane protein complex subunit 1
    Protein Accession:
    Secondary Accessions:
    • A8K6F3
    • Q14700
    • Q5TG62
    • Q63HL0
    • Q63HL3
    • Q8NBH8

    Protein attributes for EMC1 Gene

    993 amino acids
    Molecular mass:
    111759 Da
    Quaternary structure:
    • Component of the ER membrane protein complex (EMC).

    Alternative splice isoforms for EMC1 Gene


neXtProt entry for EMC1 Gene

Proteomics data for EMC1 Gene at MOPED

Post-translational modifications for EMC1 Gene

  • Ubiquitination at Lys 620, Lys 734, and Lys 875
  • Glycosylation at Asn 913
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EMC1 Gene

Domains & Families for EMC1 Gene

Protein Domains for EMC1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the EMC1 family.
  • Belongs to the EMC1 family.
genes like me logo Genes that share domains with EMC1: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for EMC1 Gene

Function for EMC1 Gene

genes like me logo Genes that share phenotypes with EMC1: view

Animal Model Products

miRNA for EMC1 Gene

miRTarBase miRNAs that target EMC1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EMC1 Gene

Localization for EMC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMC1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

Jensen Localization Image for EMC1 Gene COMPARTMENTS Subcellular localization image for EMC1 gene
Compartment Confidence
endoplasmic reticulum 5
cytoskeleton 2
peroxisome 2
plasma membrane 2
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for EMC1 Gene

Pathways & Interactions for EMC1 Gene

SuperPathways for EMC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EMC1 Gene


No data available for Pathways by source and SIGNOR curated interactions for EMC1 Gene

Drugs & Compounds for EMC1 Gene

No Compound Related Data Available

Transcripts for EMC1 Gene

Unigene Clusters for EMC1 Gene

ER membrane protein complex subunit 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EMC1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP6: - -
SP11: -

ExUns: 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b · 23c · 23d ^ 24a · 24b · 24c ^ 25a · 25b · 25c · 25d · 25e
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - - - -
SP5: -
SP7: - - -

Relevant External Links for EMC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EMC1 Gene

mRNA expression in normal human tissues for EMC1 Gene

Protein differential expression in normal tissues from HIPED for EMC1 Gene

This gene is overexpressed in Nasal epithelium (18.9) and Peripheral blood mononuclear cells (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EMC1 Gene

SOURCE GeneReport for Unigene cluster for EMC1 Gene Hs.439200

genes like me logo Genes that share expression patterns with EMC1: view

Protein tissue co-expression partners for EMC1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for EMC1 Gene

Orthologs for EMC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EMC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia EMC1 35
  • 87.87 (n)
  • 93.75 (a)
EMC1 36
  • 91 (a)
(Canis familiaris)
Mammalia EMC1 35
  • 90.83 (n)
  • 96.5 (a)
EMC1 36
  • 94 (a)
(Mus musculus)
Mammalia Emc1 35
  • 88.32 (n)
  • 93.45 (a)
Emc1 16
Emc1 36
  • 93 (a)
(Pan troglodytes)
Mammalia EMC1 35
  • 99.43 (n)
  • 99.7 (a)
EMC1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Emc1 35
  • 88.15 (n)
  • 93.15 (a)
(Monodelphis domestica)
Mammalia EMC1 36
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia EMC1 36
  • 79 (a)
(Gallus gallus)
Aves EMC1 35
  • 76.51 (n)
  • 83.15 (a)
EMC1 36
  • 82 (a)
(Anolis carolinensis)
Reptilia EMC1 36
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia emc1 35
  • 70.29 (n)
  • 71.69 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23973 35
(Danio rerio)
Actinopterygii emc1 35
  • 65.97 (n)
  • 69.42 (a)
emc1 36
  • 68 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003647 35
  • 53.11 (n)
  • 46.08 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2943 35
  • 51.5 (n)
  • 45.51 (a)
CG2943 36
  • 35 (a)
(Caenorhabditis elegans)
Secernentea H17B01.4 35
  • 47.28 (n)
  • 40.5 (a)
emc-1 36
  • 32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMC1 36
  • 23 (a)
EMC1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G11560 35
  • 42.74 (n)
  • 32.32 (a)
(Oryza sativa)
Liliopsida Os05g0230600 35
  • 43.74 (n)
  • 32.97 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4295 36
  • 43 (a)
Species with no ortholog for EMC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EMC1 Gene

Gene Tree for EMC1 (if available)
Gene Tree for EMC1 (if available)

Paralogs for EMC1 Gene

No data available for Paralogs for EMC1 Gene

Variants for EMC1 Gene

Sequence variations from dbSNP and Humsavar for EMC1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_027359 -
VAR_027360 -
VAR_027361 -
rs710865 -- 19,242,478(-) TTGTG(A/C/T)TCAGT intron-variant
rs710866 -- 19,242,228(+) CCATG(C/G)AACAC intron-variant

Variation tolerance for EMC1 Gene

Residual Variation Intolerance Score: 22.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.42; 81.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EMC1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for EMC1 Gene

Disorders for EMC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EMC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
urbach-wiethe disease
  • lipoid proteinosis
  • varicella
- elite association - COSMIC cancer census association via MalaCards
Search EMC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EMC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with EMC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EMC1 Gene

Publications for EMC1 Gene

  1. Defining human ERAD networks through an integrative mapping strategy. (PMID: 22119785) Christianson J.C. … Kopito R.R. (Nat. Cell Biol. 2012) 2 3 4 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3

Products for EMC1 Gene

Sources for EMC1 Gene