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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
  • CAVIPMR 3

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 Urbach-Wiethe Disease.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F019231 0.2 ENCODE 40.6 +18.8 18816 1.9 PAF1 CTCF CEBPB CEBPG KLF4 RAD21 FOSL1 JUND CEBPA KLF9 EMC1 MRTO4 AKR7A3 PIR41702 LOC101927895
GH01F018921 1 FANTOM5 Ensembl ENCODE 37.1 +325.5 325459 9.4 HDGF MLX CREB3L1 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 SLC30A9 EMC1 IFFO2 UBR4 ENSG00000255275
GH01F019202 0.2 ENCODE 33.5 +48.9 48933 0.9 TFE3 FOXJ2 EMC1 UBR4 PIR60239
GH01F018598 0.7 ENCODE 32.6 +652.2 652203 1.3 HDGF ZNF493 GLI4 YBX1 RAD21 ZNF366 ZNF354C EGR2 YY2 ZBTB11 EMC1 PAX7 ENSG00000225478
GH01F019073 1 Ensembl ENCODE 31 +176.7 176715 3.1 SCRT1 ZNF263 ZIC2 ZNF316 ZFHX2 POLR2A SCRT2 MAFK EGR2 EMC1 ENSG00000272084 UBR4 LOC105376815
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000531838 -141 2201 HDGF CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207

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

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:
    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

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

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

Gene Ontology (GO) - Molecular Function for EMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EMC1: view
genes like me logo Genes that share phenotypes with EMC1: view

Animal Model Products

miRNA for EMC1 Gene

miRTarBase miRNAs that target EMC1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for EMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IDA 22119785
GO:0072546 ER membrane protein complex IEA,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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
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

Transcripts for EMC1 Gene

Unigene Clusters for EMC1 Gene

ER membrane protein complex subunit 1:
Representative Sequences:

Inhibitory RNA Products

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 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, PaxDb, MaxQB, and MOPED for EMC1 Gene



Protein tissue co-expression partners for EMC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EMC1 Gene:

EMC1

SOURCE GeneReport for Unigene cluster for EMC1 Gene:

Hs.439200
genes like me logo Genes that share expression patterns with EMC1: view

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
chimpanzee
(Pan troglodytes)
Mammalia EMC1 34 35
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia EMC1 34 35
  • 90.83 (n)
mouse
(Mus musculus)
Mammalia Emc1 34 16 35
  • 88.32 (n)
rat
(Rattus norvegicus)
Mammalia Emc1 34
  • 88.15 (n)
cow
(Bos Taurus)
Mammalia EMC1 34 35
  • 87.87 (n)
oppossum
(Monodelphis domestica)
Mammalia EMC1 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EMC1 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves EMC1 34 35
  • 76.51 (n)
lizard
(Anolis carolinensis)
Reptilia EMC1 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emc1 34
  • 70.29 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23973 34
zebrafish
(Danio rerio)
Actinopterygii emc1 34 35
  • 65.97 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003647 34
  • 53.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2943 34 35
  • 51.5 (n)
worm
(Caenorhabditis elegans)
Secernentea H17B01.4 34
  • 47.28 (n)
emc-1 35
  • 32 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMC1 35 37
  • 23 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G11560 34
  • 42.74 (n)
rice
(Oryza sativa)
Liliopsida Os05g0230600 34
  • 43.74 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4295 35
  • 43 (a)
OneToOne
Species where no ortholog for EMC1 was found in the sources mined by GeneCards:
  • 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
VAR_076915 Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) [MIM:616875]
VAR_076918 Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) [MIM:616875]
rs869320624 Pathogenic 19,220,814(-) TCCCT(-/TCCT)AAGGC intron-variant, reference, frameshift-variant
rs869320625 Pathogenic 19,243,991(-) GGGCA(C/T)GGCAG intron-variant, reference, missense
rs869320626 Pathogenic 19,220,834(-) CTTCT(A/G)GAGCA intron-variant, reference, missense

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)

Relevant External Links for EMC1 Gene

Human Gene Mutation Database (HGMD)
EMC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMC1

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

Disorders for EMC1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EMC1 Gene - From: ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cerebellar atrophy, visual impairment and psychomotor retardation
  • cavipmr
urbach-wiethe disease
  • lipoid proteinosis of urbach and wiethe
scoliosis
- elite association - COSMIC cancer census association via MalaCards
Search EMC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EMC1_HUMAN
  • 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.

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 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 64
  2. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. (PMID: 26942288) Harel T. … Lupski J.R. (Am. J. Hum. Genet. 2016) 3 4 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  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 Res. 2005) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for EMC1 Gene

Sources for EMC1 Gene

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