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] See more...

Aliases for EMC1 Gene

Aliases for EMC1 Gene

  • ER Membrane Protein Complex Subunit 1 2 3 4 5
  • KIAA0090 2 3 4
  • EMC1 5

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 Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation and Lipoid Proteinosis Of Urbach And Wiethe.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EMC1 Gene

Genomics for EMC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EMC1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J019250 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 611.6 -0.5 -474 3.6 BRCA1 SP1 GATAD2A ZBTB33 HNRNPL PRDM10 ZNF629 TFE3 IKZF1 KDM1A MRTO4 EMC1 piR-57460-021 OTUD3 piR-47111 AKR7L
GH01J019207 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 32.7 +41.7 41705 4.4 BRCA1 RNF2 CEBPG HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 TFE3 UBR4 MRTO4 EMC1-AS1 EMC1 OTUD3 piR-42694-003 IFFO2
GH01J018925 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 23.8 +323.3 323344 4.4 ZBTB33 IKZF1 POLR2A JUND ZNF24 SMAD5 IKZF2 RELA ZNF747 ZNF600 EMC1 UBR4 IFFO2 AB372591 MN308687 ALDH4A1
GH01J019069 Enhancer 1 Ensembl ENCODE dbSUPER 31 +178.3 178318 6.4 ZNF692 ZIC2 RXRB SP1 ZNF600 ZNF341 SCRT2 POLR2A FOXA2 SCRT1 EMC1 ENSG00000272084 UBR4 MRTO4 lnc-UBR4-4 IFFO2
GH01J019287 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.7 -36.9 -36874 2 HNRNPL SP1 ZBTB33 HNF4A RXRA MAX REST HNF4G ATF3 EZH2 AKR7A3 EMC1 MRTO4 ALDH4A1 AKR7L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EMC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EMC1

Genomic Locations for EMC1 Gene

Genomic Locations for EMC1 Gene
35,868 bases
Minus strand
35,889 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

Post-translational modifications for EMC1 Gene

  • Glycosylation at Asn913
  • Ubiquitination at Lys620, Lys734, and Lys875
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for EMC1 Gene

Domains & Families for EMC1 Gene

Gene Families for EMC1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

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 Suggested Antigen Peptide Sequences for EMC1 Gene

Function for EMC1 Gene

Phenotypes From GWAS Catalog for EMC1 Gene

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

Human Phenotype Ontology for EMC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for EMC1 Gene

miRTarBase miRNAs that target EMC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EMC1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EMC1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IDA 22119785
GO:0032991 protein-containing complex IDA 28246125
GO:0072546 ER membrane protein complex IEA,IDA 22119785
genes like me logo Genes that share ontologies with EMC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EMC1 Gene

Pathways & Interactions for EMC1 Gene

PathCards logo

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

mRNA/cDNA for EMC1 Gene

12 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EMC1

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

Expression for EMC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for EMC1 Gene

Protein tissue co-expression partners for EMC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EMC1

SOURCE GeneReport for Unigene cluster for EMC1 Gene:


Evidence on tissue expression from TISSUES for EMC1 Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Bone marrow(4.2)
  • Lung(3.1)
  • Eye(2.6)
  • Heart(2.4)
  • Skin(2.1)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with EMC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia EMC1 30 31
  • 99.43 (n)
(Canis familiaris)
Mammalia EMC1 30 31
  • 90.83 (n)
(Mus musculus)
Mammalia Emc1 30 17 31
  • 88.32 (n)
(Rattus norvegicus)
Mammalia Emc1 30
  • 88.15 (n)
(Bos Taurus)
Mammalia EMC1 30 31
  • 87.87 (n)
(Monodelphis domestica)
Mammalia EMC1 31
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia EMC1 31
  • 79 (a)
(Gallus gallus)
Aves EMC1 30 31
  • 76.51 (n)
(Anolis carolinensis)
Reptilia EMC1 31
  • 77 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia emc1 30
  • 70.29 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23973 30
(Danio rerio)
Actinopterygii emc1 30 31
  • 65.97 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003647 30
  • 53.11 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG2943 30 31
  • 51.5 (n)
(Caenorhabditis elegans)
Secernentea H17B01.4 30
  • 47.28 (n)
emc-1 31
  • 32 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMC1 31 33
  • 23 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G11560 30
  • 42.74 (n)
(Oryza sativa)
Liliopsida Os05g0230600 30
  • 43.74 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4295 31
  • 43 (a)
Species where no ortholog for EMC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Evolutionary constrained regions (ECRs) for EMC1: view image

Paralogs for EMC1 Gene

No data available for Paralogs for EMC1 Gene

Variants for EMC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EMC1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
631526 Likely Pathogenic: Obesity 19,243,681(-) G/A NONSENSE
691805 Likely Pathogenic: Global developmental delay; Cerebellar atrophy 19,238,095(-) G/T NONSENSE
691806 Conflicting Interpretations: Global developmental delay; Cerebellar atrophy; not provided 19,219,427(-) A/G MISSENSE_VARIANT
709176 Benign: not provided 19,231,344(-) G/A MISSENSE_VARIANT
710872 Benign: not provided 19,231,418(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for EMC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for EMC1 Gene

Variant ID Type Subtype PubMed ID
nsv470702 CNV gain 18288195
nsv471971 CNV novel sequence insertion 20440878

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)

Additional Variant Information for EMC1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMC1 Gene

Disorders for EMC1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for EMC1 Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search EMC1 in MalaCards View complete list of genes associated with diseases


  • Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) [MIM:616875]: An autosomal recessive, neurodegenerative disorder characterized by developmental delay, intellectual disability, hypotonia, scoliosis, cerebellar atrophy, and variable dysmorphic features. {ECO:0000269 PubMed:26942288}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with EMC1: view

No data available for Genatlas for EMC1 Gene

Publications for EMC1 Gene

  1. Defining human ERAD networks through an integrative mapping strategy. (PMID: 22119785) Christianson JC … Kopito RR (Nature cell biology 2011) 2 3 4
  2. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. (PMID: 26942288) Harel T … Lupski JR (American journal of human genetics 2016) 3 4
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  4. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for EMC1 Gene

  • Signalway Proteins for EMC1

Sources for EMC1 Gene