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Aliases for EMC1 Gene

Aliases for EMC1 Gene

  • ER Membrane Protein Complex Subunit 1 2 3
  • 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EMC1 Gene

Chromosome:
1
Start:
19,215,664 bp from pter
End:
19,251,559 bp from pter
Size:
35,896 bases
Orientation:
Minus strand

Genomic View for EMC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EMC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMC1 Gene

No data available for Regulatory Elements for EMC1 Gene

Proteins for EMC1 Gene

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

    Protein Symbol:
    Q8N766-EMC1_HUMAN
    Recommended name:
    ER membrane protein complex subunit 1
    Protein Accession:
    Q8N766
    Secondary Accessions:
    • A8K6F3
    • Q14700
    • Q5TG62
    • Q63HL0
    • Q63HL3
    • Q8NBH8

    Protein attributes for EMC1 Gene

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

    Alternative splice isoforms for EMC1 Gene

    UniProtKB/Swiss-Prot:

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

Q8N766

UniProtKB/Swiss-Prot:

EMC1_HUMAN :
  • Belongs to the EMC1 family.
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

Phenotypes 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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EMC1

In Situ Assay Products

Flow Cytometry Products

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

COMPARTMENTS
Jensen Localization Image for EMC1 Gene COMPARTMENTS Subcellular localization image for EMC1 gene
Compartment Confidence
endoplasmic reticulum 5
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for EMC1 Gene

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

Pathways & Interactions for EMC1 Gene

SuperPathways for EMC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034975 protein folding in endoplasmic reticulum IBA --
genes like me logo Genes that share ontologies with EMC1: view

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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EMC1

Flow Cytometry Products

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: - - - - - - -
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:

ExUns: 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b · 23c · 23d ^ 24a · 24b · 24c ^ 25a · 25b · 25c · 25d · 25e
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - - - -
SP5: -
SP6:
SP7: - - -
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for EMC1 Gene

GeneLoc Exon Structure for
EMC1
ECgene alternative splicing isoforms for
EMC1

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

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay 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
cow
(Bos Taurus)
Mammalia EMC1 35
  • 87.87 (n)
  • 93.75 (a)
EMC1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EMC1 35
  • 90.83 (n)
  • 96.5 (a)
EMC1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Emc1 35
  • 88.32 (n)
  • 93.45 (a)
Emc1 16
Emc1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EMC1 35
  • 99.43 (n)
  • 99.7 (a)
EMC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Emc1 35
  • 88.15 (n)
  • 93.15 (a)
oppossum
(Monodelphis domestica)
Mammalia EMC1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EMC1 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves EMC1 35
  • 76.51 (n)
  • 83.15 (a)
EMC1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EMC1 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emc1 35
  • 70.29 (n)
  • 71.69 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23973 35
zebrafish
(Danio rerio)
Actinopterygii emc1 35
  • 65.97 (n)
  • 69.42 (a)
emc1 36
  • 68 (a)
OneToOne
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)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea H17B01.4 35
  • 47.28 (n)
  • 40.5 (a)
emc-1 36
  • 32 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMC1 36
  • 23 (a)
OneToOne
EMC1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G11560 35
  • 42.74 (n)
  • 32.32 (a)
rice
(Oryza sativa)
Liliopsida Os05g0230600 35
  • 43.74 (n)
  • 32.97 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4295 36
  • 43 (a)
OneToOne
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

ENSEMBL:
Gene Tree for EMC1 (if available)
TreeFam:
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 MAF
rs710865 -- 19,242,478(-) TTGTG(A/C/T)TCAGT intron-variant
rs710866 -- 19,242,228(+) CCATG(C/G)AACAC intron-variant
rs710867 -- 19,241,505(-) TGCTA(C/T)GAGGC intron-variant
rs710868 -- 19,241,291(-) acaac(A/T)acaac intron-variant
rs710883 -- 19,243,410(-) GCAAT(A/G)TTTGC intron-variant

Variation tolerance for EMC1 Gene

Residual Variation Intolerance Score: 22.75% 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

HapMap Linkage Disequilibrium report
EMC1
Human Gene Mutation Database (HGMD)
EMC1

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
chickenpox
  • varicella
- elite association
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:
EMC1
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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 67
  4. 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) 67
  5. Identifying biological pathways that underlie primordial short stature using network analysis. (PMID: 24711643) Hanson D. … Clayton P.E. (J. Mol. Endocrinol. 2014) 67

Products for EMC1 Gene

Sources for EMC1 Gene

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