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Aliases for ELMOD1 Gene

Aliases for ELMOD1 Gene

  • ELMO Domain Containing 1 2 3 5
  • ELMO/CED-12 Domain Containing 1 2

External Ids for ELMOD1 Gene

Previous GeneCards Identifiers for ELMOD1 Gene

  • GC11P106968
  • GC11P107463
  • GC11P103387
  • GC11P107464

Summaries for ELMOD1 Gene

GeneCards Summary for ELMOD1 Gene

ELMOD1 (ELMO Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is ELMOD2.

UniProtKB/Swiss-Prot for ELMOD1 Gene

  • Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELMOD1 Gene

Genomics for ELMOD1 Gene

Regulatory Elements for ELMOD1 Gene

Enhancers for ELMOD1 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
GH11F107561 1.1 Ensembl ENCODE 15.3 -28.3 -28283 3.4 HDAC1 CTCF JUN ZMYM3 MAX FEZF1 RAD21 YY1 ZNF664 ZNF316 ELMOD1 ALKBH8 CWF19L2
GH11F107695 1.2 Ensembl ENCODE 10.8 +105.3 105274 2.1 ATF1 ZBTB40 RFX5 ZNF335 ZNF366 ZNF143 FOS ZNF263 ZBTB11 ZEB2 SLN ALKBH8 ELMOD1 SLC35F2 ENSG00000254758
GH11F107689 0.9 Ensembl ENCODE 11.2 +98.7 98689 0.4 CTCF ZNF654 TRIM22 REST RAD21 ZGPAT SMC3 PRDM1 MIXL1 ALKBH8 ELMOD1 SLN ENSG00000254758
GH11F107544 0.9 Ensembl ENCODE 11 -46.0 -45957 2.2 SCRT1 PKNOX1 MTA2 JUN EP300 IKZF1 SCRT2 FOS ALKBH8 ELMOD1 LOC105369477 CWF19L2
GH11F107708 0.9 Ensembl ENCODE 10.3 +120.1 120076 4.5 MTA2 OVOL3 EBF1 ZFHX2 GATA2 ZNF239 IKZF1 HMBOX1 SP7 EGR2 ELMOD1 SLN ENSG00000254758
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ELMOD1 on UCSC Golden Path with GeneCards custom track

Promoters for ELMOD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001573180 109 2001 PKNOX1 GLIS2 ZNF391 EGR2 REST ZEB2 ZNF341 GLIS1 ZBTB26 CTCF

Genomic Location for ELMOD1 Gene

Chromosome:
11
Start:
107,591,091 bp from pter
End:
107,666,779 bp from pter
Size:
75,689 bases
Orientation:
Plus strand

Genomic View for ELMOD1 Gene

Genes around ELMOD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELMOD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELMOD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELMOD1 Gene

Proteins for ELMOD1 Gene

  • Protein details for ELMOD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N336-ELMD1_HUMAN
    Recommended name:
    ELMO domain-containing protein 1
    Protein Accession:
    Q8N336
    Secondary Accessions:
    • B4E167
    • G5E9S5
    • Q9NPW3

    Protein attributes for ELMOD1 Gene

    Size:
    334 amino acids
    Molecular mass:
    39052 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ELMOD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELMOD1 Gene

Post-translational modifications for ELMOD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ELMOD1 Gene

No data available for DME Specific Peptides for ELMOD1 Gene

Domains & Families for ELMOD1 Gene

Protein Domains for ELMOD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ELMOD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N336

UniProtKB/Swiss-Prot:

ELMD1_HUMAN :
  • Contains 1 ELMO domain.
Domain:
  • Contains 1 ELMO domain.
genes like me logo Genes that share domains with ELMOD1: view

No data available for Gene Families for ELMOD1 Gene

Function for ELMOD1 Gene

Molecular function for ELMOD1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family.

Gene Ontology (GO) - Molecular Function for ELMOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA 17452337
genes like me logo Genes that share ontologies with ELMOD1: view
genes like me logo Genes that share phenotypes with ELMOD1: view

Animal Models for ELMOD1 Gene

MGI Knock Outs for ELMOD1:

Animal Model Products

miRNA for ELMOD1 Gene

miRTarBase miRNAs that target ELMOD1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ELMOD1 Gene

Localization for ELMOD1 Gene

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 ELMOD1 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for ELMOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with ELMOD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ELMOD1 Gene

Pathways & Interactions for ELMOD1 Gene

SuperPathways for ELMOD1 Gene

No Data Available

Interacting Proteins for ELMOD1 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000265840%0d%0a9606.ENSP00000231198%0d%0a9606.ENSP00000363970%0d%0a9606.ENSP00000394008%0d%0a
Selected Interacting proteins: Q8N336-ELMD1_HUMAN ENSP00000265840 for ELMOD1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for ELMOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031647 regulation of protein stability IMP 24270810
GO:0043547 positive regulation of GTPase activity IEA --
GO:1903955 positive regulation of protein targeting to mitochondrion IMP 24270810
genes like me logo Genes that share ontologies with ELMOD1: view

No data available for Pathways by source and SIGNOR curated interactions for ELMOD1 Gene

Transcripts for ELMOD1 Gene

mRNA/cDNA for ELMOD1 Gene

(5) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ELMOD1 Gene

ELMO/CED-12 domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ELMOD1 Gene

No ASD Table

Relevant External Links for ELMOD1 Gene

GeneLoc Exon Structure for
ELMOD1
ECgene alternative splicing isoforms for
ELMOD1

Expression for ELMOD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ELMOD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ELMOD1 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x6.5), Brain - Frontal Cortex (BA9) (x5.2), Brain - Anterior cingulate cortex (BA24) (x4.9), Brain - Putamen (basal ganglia) (x4.9), and Brain - Caudate (basal ganglia) (x4.6).

Protein differential expression in normal tissues from HIPED for ELMOD1 Gene

This gene is overexpressed in Platelet (50.2) and Retina (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ELMOD1 Gene



Protein tissue co-expression partners for ELMOD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ELMOD1 Gene:

ELMOD1

SOURCE GeneReport for Unigene cluster for ELMOD1 Gene:

Hs.495779
genes like me logo Genes that share expression patterns with ELMOD1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ELMOD1 Gene

Orthologs for ELMOD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ELMOD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELMOD1 34 35
  • 99.39 (n)
cow
(Bos Taurus)
Mammalia ELMOD1 34 35
  • 92.13 (n)
dog
(Canis familiaris)
Mammalia ELMOD1 34 35
  • 92.02 (n)
oppossum
(Monodelphis domestica)
Mammalia ELMOD1 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELMOD1 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Elmod1 34
  • 88.52 (n)
mouse
(Mus musculus)
Mammalia Elmod1 34 16 35
  • 87.73 (n)
chicken
(Gallus gallus)
Aves ELMOD1 34 35
  • 82.83 (n)
lizard
(Anolis carolinensis)
Reptilia ELMOD1 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elmod1 34
  • 75.35 (n)
zebrafish
(Danio rerio)
Actinopterygii elmod1 34 35
  • 67.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10068 35
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
ManyToMany
-- 35
  • 37 (a)
ManyToMany
Species where no ortholog for ELMOD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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 ELMOD1 Gene

ENSEMBL:
Gene Tree for ELMOD1 (if available)
TreeFam:
Gene Tree for ELMOD1 (if available)

Paralogs for ELMOD1 Gene

Paralogs for ELMOD1 Gene

(1) SIMAP similar genes for ELMOD1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ELMOD1: view

Variants for ELMOD1 Gene

Sequence variations from dbSNP and Humsavar for ELMOD1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs10160641 -- 107,656,421(+) tatat(A/T)atata intron-variant
rs10160814 -- 107,656,422(+) atatt(A/T)tatat intron-variant
rs10431058 -- 107,610,792(+) ATGGC(C/T)GCCTC intron-variant
rs10536920 -- 107,646,944(+) ATCTA(-/ATCT)ATCTA intron-variant
rs10539761 -- 107,631,406(+) CACTA(-/CCCC)CCCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ELMOD1 Gene

Variant ID Type Subtype PubMed ID
nsv556377 CNV gain 21841781
nsv556376 CNV gain 21841781
nsv476 CNV insertion 18451855
nsv1052198 CNV gain 25217958
esv3427153 CNV insertion 20981092
esv2422201 CNV duplication 17116639
dgv1274n100 CNV gain 25217958

Variation tolerance for ELMOD1 Gene

Residual Variation Intolerance Score: 64.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.00; 20.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ELMOD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELMOD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELMOD1 Gene

Disorders for ELMOD1 Gene

Relevant External Links for ELMOD1

Genetic Association Database (GAD)
ELMOD1
Human Genome Epidemiology (HuGE) Navigator
ELMOD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELMOD1

No disorders were found for ELMOD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ELMOD1 Gene

Publications for ELMOD1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. Web-based, participant-driven studies yield novel genetic associations for common traits. (PMID: 20585627) Eriksson N. … Mountain J. (PLoS Genet. 2010) 3 46 64
  3. 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M. … Tokunaga K. (Hum. Genet. 2010) 3 46 64
  5. ELMOD2 is an Arl2 GTPase-activating protein that also acts on Arfs. (PMID: 17452337) Bowzard J.B. … Kahn R.A. (J. Biol. Chem. 2007) 3 4 64

Products for ELMOD1 Gene

Sources for ELMOD1 Gene

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