Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EMID1 Gene

Aliases for EMID1 Gene

  • EMI Domain Containing 1 2 3 5
  • Emilin And Multimerin Domain-Containing Protein 1 3 4
  • EMU1 3 4
  • Emilin And Multimerin-Domain Containing Protein 1 2
  • EMI Domain-Containing Protein 1 3
  • Putative Emu1 2
  • EMI5 3

External Ids for EMID1 Gene

Previous GeneCards Identifiers for EMID1 Gene

  • GC22P027927
  • GC22P027928
  • GC22P029601
  • GC22P012566

Summaries for EMID1 Gene

GeneCards Summary for EMID1 Gene

EMID1 (EMI Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is COL26A1.

Additional gene information for EMID1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMID1 Gene

Genomics for EMID1 Gene

Regulatory Elements for EMID1 Gene

Enhancers for EMID1 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
GH22H029201 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.9 -0.1 -126 8.8 HDGF PKNOX1 SIN3A ARID4B YBX1 TCF12 GLIS2 ZNF143 ZNF207 ATF7 TTC28 EMID1 KREMEN1 EWSR1 C22orf31 CHEK2 LOC101929638 GC22P029193
GH22H029149 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -55.4 -55405 1.8 ELF3 SOX5 SOX13 SCRT1 CEBPB USF2 CEBPG SCRT2 CEBPA RXRB EMID1 ENSG00000226772 C22orf31 AP1B1 PIR36521 PIR48997
GH22H029231 1.1 ENCODE dbSUPER 13.1 +26.6 26592 2.1 ELF3 ARID4B RAD21 RARA YY1 ZNF366 MIXL1 THAP11 SP5 REST EMID1 ENSG00000237015 RHBDD3 EWSR1 ENSG00000226772 C22orf31 NIPSNAP1 LOC105372985
GH22H029195 1.5 FANTOM5 ENCODE dbSUPER 7.4 -10.0 -10000 1.1 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ATF7 CAVIN1 NCOA1 EWSR1 EMID1 GC22P029193 LOC101929638
GH22H029245 1 ENCODE dbSUPER 10.7 +39.9 39856 0.2 ELF3 HDGF CTCF LEF1 FOXA2 SAP130 RB1 IRF3 ZNF2 RAD21 RNU6-810P C22orf31 EMID1 RHBDD3 LOC105372985 ENSG00000237015
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EMID1 on UCSC Golden Path with GeneCards custom track

Promoters for EMID1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000145029 249 1001 HDGF PTBP1 NFXL1 ZBTB40 RAD21 ZEB1 GLIS2 ZNF366 RCOR1 ZNF391

Genomic Locations for EMID1 Gene

Genomic Locations for EMID1 Gene
chr22:29,205,851-29,259,597
(GRCh38/hg38)
Size:
53,747 bases
Orientation:
Plus strand
chr22:29,601,840-29,655,586
(GRCh37/hg19)

Genomic View for EMID1 Gene

Genes around EMID1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMID1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMID1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMID1 Gene

Proteins for EMID1 Gene

  • Protein details for EMID1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96A84-EMID1_HUMAN
    Recommended name:
    EMI domain-containing protein 1
    Protein Accession:
    Q96A84
    Secondary Accessions:
    • B0QYK6
    • Q6ICG1
    • Q86SS7

    Protein attributes for EMID1 Gene

    Size:
    441 amino acids
    Molecular mass:
    45292 Da
    Quaternary structure:
    • Homo- or heteromers.

    Alternative splice isoforms for EMID1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EMID1 Gene

Post-translational modifications for EMID1 Gene

  • Glycosylation at isoforms=2, 351 and posLast=136136

No data available for DME Specific Peptides for EMID1 Gene

Domains & Families for EMID1 Gene

Gene Families for EMID1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for EMID1 Gene

Suggested Antigen Peptide Sequences for EMID1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EMID1: view

No data available for UniProtKB/Swiss-Prot for EMID1 Gene

Function for EMID1 Gene

Phenotypes From GWAS Catalog for EMID1 Gene

genes like me logo Genes that share phenotypes with EMID1: view

Animal Models for EMID1 Gene

MGI Knock Outs for EMID1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EMID1 Gene

Localization for EMID1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMID1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
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 EMID1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 2
golgi apparatus 2
mitochondrion 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for EMID1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with EMID1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EMID1 Gene

Pathways & Interactions for EMID1 Gene

SuperPathways for EMID1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EMID1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EMID1 Gene

Drugs & Compounds for EMID1 Gene

No Compound Related Data Available

Transcripts for EMID1 Gene

Unigene Clusters for EMID1 Gene

EMI domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EMID1 Gene

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

Relevant External Links for EMID1 Gene

GeneLoc Exon Structure for
EMID1
ECgene alternative splicing isoforms for
EMID1

Expression for EMID1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EMID1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EMID1 Gene

This gene is overexpressed in Spleen (x7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EMID1 Gene



NURSA nuclear receptor signaling pathways regulating expression of EMID1 Gene:

EMID1

SOURCE GeneReport for Unigene cluster for EMID1 Gene:

Hs.289106

Evidence on tissue expression from TISSUES for EMID1 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with EMID1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EMID1 Gene

Orthologs for EMID1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EMID1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EMID1 34
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Emid1 33
  • 87.97 (n)
mouse
(Mus musculus)
Mammalia Emid1 33 16 34
  • 83.33 (n)
cow
(Bos Taurus)
Mammalia EMID1 34
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EMID1 34
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EMID1 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EMID1 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves EMID1 34
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 3 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia emid1 33
  • 57.52 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68894 33
zebrafish
(Danio rerio)
Actinopterygii emid1 34
  • 46 (a)
OneToOne
Species where no ortholog for EMID1 was found in the sources mined by GeneCards:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EMID1 Gene

ENSEMBL:
Gene Tree for EMID1 (if available)
TreeFam:
Gene Tree for EMID1 (if available)

Paralogs for EMID1 Gene

Paralogs for EMID1 Gene

(2) SIMAP similar genes for EMID1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with EMID1: view

Variants for EMID1 Gene

Sequence variations from dbSNP and Humsavar for EMID1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000000982 -- 29,235,993(+) GGTTA(C/T)ATTTA intron-variant
rs1000050567 -- 29,252,404(+) TCCCT(G/T)CACTT intron-variant
rs1000054484 -- 29,244,627(+) GAACG(A/G)GACTC intron-variant
rs1000109706 -- 29,244,871(+) ACTCC(-/T)TCAGG intron-variant
rs1000110682 -- 29,242,977(+) TGTGA(C/T)TGGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EMID1 Gene

Variant ID Type Subtype PubMed ID
nsv834171 CNV loss 17160897
nsv829154 CNV gain 20364138
nsv524483 CNV loss 19592680
nsv522714 CNV loss 19592680
nsv519651 CNV loss 19592680
nsv436349 CNV deletion 17901297
nsv1132574 CNV duplication 24896259
nsv1072208 CNV deletion 25765185
esv3647527 CNV loss 21293372
esv3558040 CNV deletion 23714750
esv275243 CNV gain+loss 21479260
esv2724122 CNV deletion 23290073
esv2724121 CNV deletion 23290073
esv2673780 CNV deletion 23128226
esv22026 CNV loss 19812545
esv1772608 CNV deletion 17803354

Variation tolerance for EMID1 Gene

Residual Variation Intolerance Score: 83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.94; 87.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EMID1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMID1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMID1 Gene

Disorders for EMID1 Gene

Relevant External Links for EMID1

Genetic Association Database (GAD)
EMID1
Human Genome Epidemiology (HuGE) Navigator
EMID1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EMID1

No disorders were found for EMID1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EMID1 Gene

Publications for EMID1 Gene

  1. Developmental expression and biochemical characterization of Emu family members. (PMID: 12221002) Leimeister C … Gessler M (Developmental biology 2002) 2 3 4 60
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for EMID1 Gene

Sources for EMID1 Gene

Content
Loading form....