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Aliases for EMC3 Gene

Aliases for EMC3 Gene

  • ER Membrane Protein Complex Subunit 3 2 3 5
  • Transmembrane Protein 111 2 3 4
  • TMEM111 3 4
  • Partial Optokinetic Response B 3
  • 30 KDa Protein 3
  • POB 3

External Ids for EMC3 Gene

Previous HGNC Symbols for EMC3 Gene

  • TMEM111

Previous GeneCards Identifiers for EMC3 Gene

  • GC03M010007

Summaries for EMC3 Gene

GeneCards Summary for EMC3 Gene

EMC3 (ER Membrane Protein Complex Subunit 3) is a Protein Coding gene. Diseases associated with EMC3 include primary cutaneous amyloidosis.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMC3 Gene

Genomics for EMC3 Gene

Regulatory Elements for EMC3 Gene


Promoters for EMC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EMC3 on UCSC Golden Path with GeneCards custom track

Genomic Location for EMC3 Gene

Chromosome:
3
Start:
9,962,537 bp from pter
End:
10,011,116 bp from pter
Size:
48,580 bases
Orientation:
Minus strand

Genomic View for EMC3 Gene

Genes around EMC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMC3 Gene

Proteins for EMC3 Gene

  • Protein details for EMC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0I2-EMC3_HUMAN
    Recommended name:
    ER membrane protein complex subunit 3
    Protein Accession:
    Q9P0I2
    Secondary Accessions:
    • B2R4Z9
    • Q53GH8
    • Q6ZMC2

    Protein attributes for EMC3 Gene

    Size:
    261 amino acids
    Molecular mass:
    29952 Da
    Quaternary structure:
    • Component of the ER membrane protein complex (EMC).
    SequenceCaution:
    • Sequence=BAD18807.1; Type=Erroneous termination; Positions=222; Note=Translated as Trp.; Evidence={ECO:0000305};

    Alternative splice isoforms for EMC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EMC3 Gene

Proteomics data for EMC3 Gene at MOPED

Post-translational modifications for EMC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EMC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EMC3 Gene

Domains & Families for EMC3 Gene

Protein Domains for EMC3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EMC3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P0I2

UniProtKB/Swiss-Prot:

EMC3_HUMAN :
  • Belongs to the EMC3 family.
Family:
  • Belongs to the EMC3 family.
genes like me logo Genes that share domains with EMC3: view

No data available for Gene Families for EMC3 Gene

Function for EMC3 Gene

Phenotypes for EMC3 Gene

GenomeRNAi human phenotypes for EMC3:
genes like me logo Genes that share phenotypes with EMC3: view

Animal Model Products

miRNA for EMC3 Gene

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 EMC3 Gene

Localization for EMC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMC3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EMC3 Gene COMPARTMENTS Subcellular localization image for EMC3 gene
Compartment Confidence
endoplasmic reticulum 5
cytoskeleton 2
cytosol 2
plasma membrane 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for EMC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with EMC3: view

Pathways & Interactions for EMC3 Gene

SuperPathways for EMC3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EMC3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EMC3 Gene

Drugs & Compounds for EMC3 Gene

No Compound Related Data Available

Transcripts for EMC3 Gene

Unigene Clusters for EMC3 Gene

ER membrane protein complex subunit 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EMC3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9
SP1: - -
SP2: -
SP3: - - - -
SP4:

Relevant External Links for EMC3 Gene

GeneLoc Exon Structure for
EMC3
ECgene alternative splicing isoforms for
EMC3

Expression for EMC3 Gene

mRNA expression in normal human tissues for EMC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EMC3 Gene

This gene is overexpressed in Bone (11.5) and Placenta (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EMC3 Gene



SOURCE GeneReport for Unigene cluster for EMC3 Gene Hs.475392

genes like me logo Genes that share expression patterns with EMC3: view

Protein tissue co-expression partners for EMC3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for EMC3 Gene

Orthologs for EMC3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EMC3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EMC3 35
  • 93.49 (n)
  • 99.62 (a)
EMC3 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EMC3 35
  • 94.89 (n)
  • 100 (a)
EMC3 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Emc3 35
  • 91.44 (n)
  • 99.62 (a)
Emc3 16
Emc3 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EMC3 35
  • 100 (n)
  • 100 (a)
TMEM111 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Emc3 35
  • 89.53 (n)
  • 99.62 (a)
oppossum
(Monodelphis domestica)
Mammalia EMC3 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EMC3 36
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves EMC3 35
  • 83.27 (n)
  • 96.93 (a)
EMC3 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EMC3 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emc3 35
  • 80.59 (n)
  • 93.87 (a)
Str.1909 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.34728 35
zebrafish
(Danio rerio)
Actinopterygii emc3 35
  • 75.1 (n)
  • 89.66 (a)
wufi32f05 35
emc3 36
  • 90 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1284 35
fruit fly
(Drosophila melanogaster)
Insecta CG6750 36
  • 61 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea emc-3 36
  • 58 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM27 36
  • 30 (a)
OneToOne
EMC3 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G12590 35
  • 52.53 (n)
  • 43.72 (a)
rice
(Oryza sativa)
Liliopsida Os09g0497400 35
  • 56.03 (n)
  • 46.12 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4027 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9956 36
  • 65 (a)
OneToOne
Species with no ortholog for EMC3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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 EMC3 Gene

ENSEMBL:
Gene Tree for EMC3 (if available)
TreeFam:
Gene Tree for EMC3 (if available)

Paralogs for EMC3 Gene

Pseudogenes.org Pseudogenes for EMC3 Gene

genes like me logo Genes that share paralogs with EMC3: view

No data available for Paralogs for EMC3 Gene

Variants for EMC3 Gene

Sequence variations from dbSNP and Humsavar for EMC3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs12087 -- 9,964,135(+) ATGAG(C/T)TCTTC reference, synonymous-codon
rs13237 -- 9,969,747(+) CGGGC(A/G)TGGCC reference, missense
rs1058749 -- 9,963,906(-) TTGAA(A/G)CTAGA downstream-variant-500B, utr-variant-3-prime
rs398025 -- 9,974,098(+) GAAGT(C/G)AAAAT intron-variant
rs781866 -- 9,972,860(+) gtctc(A/G)ctctg intron-variant

Variation tolerance for EMC3 Gene

Residual Variation Intolerance Score: 34.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EMC3 Gene

HapMap Linkage Disequilibrium report
EMC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for EMC3 Gene

Disorders for EMC3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EMC3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
primary cutaneous amyloidosis
  • familial primary localized cutaneous amyloidosis
- elite association - COSMIC cancer census association via MalaCards
Search EMC3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EMC3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EMC3
genes like me logo Genes that share disorders with EMC3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EMC3 Gene

Publications for EMC3 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. Coexpression network based on natural variation in human gene expression reveals gene interactions and functions. (PMID: 19797678) Nayak R.R. … Cheung V.G. (Genome Res. 2009) 2 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 EMC3 Gene

Sources for EMC3 Gene

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