Aliases for EMID1 Gene

Aliases for EMID1 Gene

  • EMI Domain Containing 1 2 3 5
  • EMU1 2 3 4
  • Emilin And Multimerin Domain-Containing Protein 1 3 4
  • EMI Domain-Containing Protein 1 3 4
  • EMI5 2 3
  • Emilin And Multimerin-Domain Containing Protein 1 2
  • Putative Emu1 2
  • EMID1 5
  • HEmu1 2
  • Emu1 4

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. Diseases associated with EMID1 include Fanconi Anemia, Complementation Group L. An important paralog of this gene is COL26A1.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EMID1 Gene

Genomics for EMID1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EMID1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EMID1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EMID1

Top Transcription factor binding sites by QIAGEN in the EMID1 gene promoter:
  • Brachyury
  • GATA-1
  • HOXA3
  • Pax-4a
  • RP58
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT5A
  • YY1

Genomic Locations for EMID1 Gene

Genomic Locations for EMID1 Gene
chr22:29,205,896-29,259,597
(GRCh38/hg38)
Size:
53,702 bases
Orientation:
Plus strand
chr22:29,601,840-29,655,586
(GRCh37/hg19)
Size:
53,747 bases
Orientation:
Plus strand

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.
    Miscellaneous:
    • [Isoform 2]: May be due to a competing acceptor splice site.
    • [Isoform 3]: May be due to a competing acceptor splice site.

    Alternative splice isoforms for EMID1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EMID1 Gene

Post-translational modifications for EMID1 Gene

  • Glycosylation at Asn51 and Asn136
  • Modification sites at PhosphoSitePlus

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

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • EMI
ProtoNet:

Suggested Antigen Peptide Sequences for EMID1 Gene

GenScript: Design optimal peptide antigens:
  • EMI domain containing 1 (B0QYJ0_HUMAN)
  • Emilin and multimerin domain-containing protein 1 (EMID1_HUMAN)
genes like me logo Genes that share domains with EMID1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EMID1 Gene

Function for EMID1 Gene

Phenotypes From GWAS Catalog for EMID1 Gene

Gene Ontology (GO) - Molecular Function for EMID1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with EMID1: view
genes like me logo Genes that share phenotypes with EMID1: view

Animal Models for EMID1 Gene

MGI Knock Outs for EMID1:
  • Emid1 Emid1<tm1a(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for EMID1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EMID1

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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 4
endoplasmic reticulum 2
golgi apparatus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 0

Gene Ontology (GO) - Cellular Components for EMID1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005581 collagen trimer IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0031012 extracellular matrix 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

PathCards logo

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

mRNA/cDNA for EMID1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
11 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 EMID1

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

Expression for EMID1 Gene

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



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

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 31
  • 99 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Emid1 30
  • 87.97 (n)
Mouse
(Mus musculus)
Mammalia Emid1 30 17 31
  • 83.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EMID1 31
  • 80 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia EMID1 31
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EMID1 31
  • 66 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EMID1 31
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EMID1 31
  • 57 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 3 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia emid1 30
  • 57.52 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68894 30
Zebrafish
(Danio rerio)
Actinopterygii emid1 31
  • 46 (a)
OneToOne
Species where no ortholog for EMID1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for EMID1: view image

Paralogs for EMID1 Gene

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

  • EMID1_HUMAN
  • B0QYK2_HUMAN
  • B0QYK3_HUMAN
  • B0QYK4_HUMAN
  • B0QYK5_HUMAN
  • F8WDX7_HUMAN
  • H0Y6W4_HUMAN
genes like me logo Genes that share paralogs with EMID1: view

Variants for EMID1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EMID1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
780636 Benign: not provided 29,231,588(+) C/G INTRON_VARIANT
rs743920 - p.Ala107Gly

Additional dbSNP identifiers (rs#s) for EMID1 Gene

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

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

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)

Additional Variant Information for EMID1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for EMID1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EMID1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fanconi anemia, complementation group l
  • fancl
- elite association - COSMIC cancer census association via MalaCards
Search EMID1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EMID1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with EMID1: view

No data available for 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
  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 41
  3. 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
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for EMID1 Gene

Sources for EMID1 Gene