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Aliases for ELMO1 Gene

Aliases for ELMO1 Gene

  • Engulfment And Cell Motility 1 2 3 5
  • Engulfment And Cell Motility 1 (Ced-12 Homolog, C. Elegans) 2
  • Engulfment And Cell Motility Protein 1 3
  • Protein Ced-12 Homolog 4
  • Ced-12 Homolog 1 3
  • KIAA0281 4
  • CED-12 3
  • ELMO-1 3
  • CED12 3

External Ids for ELMO1 Gene

Previous GeneCards Identifiers for ELMO1 Gene

  • GC07M036540
  • GC07M036635
  • GC07M036667

Summaries for ELMO1 Gene

Entrez Gene Summary for ELMO1 Gene

  • This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for ELMO1 Gene

ELMO1 (Engulfment And Cell Motility 1) is a Protein Coding gene. Diseases associated with ELMO1 include Diaphanospondylodysostosis. Among its related pathways are Cytoskeletal Signaling and Signaling events mediated by focal adhesion kinase. Gene Ontology (GO) annotations related to this gene include binding and SH3 domain binding. An important paralog of this gene is ELMO2.

UniProtKB/Swiss-Prot for ELMO1 Gene

  • Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1.

Gene Wiki entry for ELMO1 Gene

Additional gene information for ELMO1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELMO1 Gene

Genomics for ELMO1 Gene

GeneHancer (GH) Regulatory Elements for ELMO1 Gene

Promoters and enhancers for ELMO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J037443 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 656.5 +2.5 2506 6.2 HDGF SIN3A FEZF1 ZNF2 IRF4 ZNF48 YY1 GLIS2 ATF7 RUNX3 ELMO1 GPR141 RNU6-565P EPDR1 TRGV3 ENSG00000201566
GH07J036986 Promoter 0.8 EPDnew 650 +464.3 464311 0.1 NFIC SMAD1 NFIB EBF1 ELF1 PRDM4 ELMO1 MIR1200 PIR46806 ELMO1-AS1
GH07J037351 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 37.6 +95.7 95660 4.8 PKNOX1 ATF1 FOXA2 YY1 TCF12 ZNF143 ATF7 RXRA JUNB ATF4 ELMO1 GPR141 RNU6-565P RPS10P14
GH07J036985 Enhancer 0.8 FANTOM5 44.2 +465.0 465013 0.2 ELF3 ARID4B RAD21 RARA ZNF614 RXRA CEBPB SP1 CEBPA KDM1A ELMO1 MIR1200 AOAH PIR46806 ELMO1-AS1
GH07J037390 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 22 +57.7 57696 3.4 RXRA MAX ZIC2 YY1 ZNF366 POLR2A GLIS1 HNF4A MYC ELMO1 ENSG00000200113 ENSG00000201566 RNU6-565P GPR141 RPS10P14 GC07P037419
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELMO1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ELMO1 gene promoter:
  • Max1
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2

Genomic Locations for ELMO1 Gene

Genomic Locations for ELMO1 Gene
chr7:36,852,906-37,449,409
(GRCh38/hg38)
Size:
596,504 bases
Orientation:
Minus strand
chr7:36,892,511-37,488,895
(GRCh37/hg19)
Size:
596,385 bases
Orientation:
Minus strand

Genomic View for ELMO1 Gene

Genes around ELMO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELMO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELMO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELMO1 Gene

Proteins for ELMO1 Gene

  • Protein details for ELMO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92556-ELMO1_HUMAN
    Recommended name:
    Engulfment and cell motility protein 1
    Protein Accession:
    Q92556
    Secondary Accessions:
    • A4D1X6
    • Q29R79
    • Q6ZTJ0
    • Q96PB0
    • Q9H0I1

    Protein attributes for ELMO1 Gene

    Size:
    727 amino acids
    Molecular mass:
    83829 Da
    Quaternary structure:
    • Interacts with ADGRB1 (By similarity). Interacts directly with the SH3-domain of DOCK1 via its SH3-binding site. Part of a complex with DOCK1 and RAC1. Part of a complex with DOCK1 and CRK isoform CRK-II. Interacts with PLEKHG6. Interacts with HCK (via SH3 domain). Interacts with ADGRB3 (PubMed:24567399).
    SequenceCaution:
    • Sequence=BAA13397.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ELMO1 Gene

    Alternative splice isoforms for ELMO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELMO1 Gene

Post-translational modifications for ELMO1 Gene

No data available for DME Specific Peptides for ELMO1 Gene

Domains & Families for ELMO1 Gene

Gene Families for ELMO1 Gene

Protein Domains for ELMO1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ELMO1: view

No data available for UniProtKB/Swiss-Prot for ELMO1 Gene

Function for ELMO1 Gene

Molecular function for ELMO1 Gene

UniProtKB/Swiss-Prot Function:
Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1.

Phenotypes From GWAS Catalog for ELMO1 Gene

Gene Ontology (GO) - Molecular Function for ELMO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 contributes_to guanyl-nucleotide exchange factor activity IDA 12134158
GO:0005488 binding IEA --
GO:0005515 protein binding IPI 12029088
GO:0017124 SH3 domain binding IPI 12029088
genes like me logo Genes that share ontologies with ELMO1: view
genes like me logo Genes that share phenotypes with ELMO1: view

Animal Models for ELMO1 Gene

MGI Knock Outs for ELMO1:
  • Elmo1 Elmo1<tm1a(EUCOMM)Wtsi>
  • Elmo1 Elmo1<tm1.2Ravi>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ELMO1 Gene

Localization for ELMO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELMO1 Gene

Cytoplasm. Cell membrane. Note=Translocation to plasma membrane seems to be mediated by DOCK1 and CRK.

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 ELMO1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 3
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ELMO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 11595183
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA,IEA 11595183
GO:0016020 membrane HDA,IEA 19946888
GO:0032045 guanyl-nucleotide exchange factor complex IDA 12134158
genes like me logo Genes that share ontologies with ELMO1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ELMO1 Gene

Pathways & Interactions for ELMO1 Gene

genes like me logo Genes that share pathways with ELMO1: view

SIGNOR curated interactions for ELMO1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ELMO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006909 phagocytosis IEA --
GO:0006911 phagocytosis, engulfment IGI 11595183
GO:0006915 apoptotic process NAS 11595183
GO:0016477 cell migration IEA --
GO:0016601 Rac protein signal transduction IGI 11595183
genes like me logo Genes that share ontologies with ELMO1: view

Drugs & Compounds for ELMO1 Gene

(3) Drugs for ELMO1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with ELMO1: view

Transcripts for ELMO1 Gene

Unigene Clusters for ELMO1 Gene

Engulfment and cell motility 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ELMO1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: - - - - -
SP2: - -
SP3: -
SP4:
SP5: - -
SP6:
SP7:

ExUns: 25 ^ 26 ^ 27
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for ELMO1 Gene

GeneLoc Exon Structure for
ELMO1
ECgene alternative splicing isoforms for
ELMO1

Expression for ELMO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ELMO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ELMO1 Gene

This gene is overexpressed in Lymph node (26.3) and Peripheral blood mononuclear cells (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ELMO1 Gene



Protein tissue co-expression partners for ELMO1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ELMO1 Gene:

ELMO1

SOURCE GeneReport for Unigene cluster for ELMO1 Gene:

Hs.434989

mRNA Expression by UniProt/SwissProt for ELMO1 Gene:

Q92556-ELMO1_HUMAN
Tissue specificity: Widely expressed, with a higher expression in the spleen and placenta.

Evidence on tissue expression from TISSUES for ELMO1 Gene

  • Nervous system(5)
  • Lung(4.3)
  • Liver(4.2)
  • Pancreas(4.2)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with ELMO1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ELMO1 Gene

Orthologs for ELMO1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ELMO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELMO1 34 33
  • 99.72 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 94 (a)
OneToMany
-- 34
  • 93 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ELMO1 34 33
  • 93.03 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ELMO1 34 33
  • 92.8 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Elmo1 33
  • 91.1 (n)
mouse
(Mus musculus)
Mammalia Elmo1 16 34 33
  • 90.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ELMO1 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELMO1 34 33
  • 83.13 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELMO1 34
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elmo2 33
  • 78.5 (n)
zebrafish
(Danio rerio)
Actinopterygii elmo1 34 33
  • 78.65 (n)
OneToMany
ELMO1 (2 of 2) 34
  • 68 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12252 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009236 33
  • 56.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ced-12 34 33
  • 54.83 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ced-12 34 33
  • 40.64 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 59 (a)
ManyToMany
-- 34
  • 46 (a)
ManyToMany
Species where no ortholog for ELMO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)

Evolution for ELMO1 Gene

ENSEMBL:
Gene Tree for ELMO1 (if available)
TreeFam:
Gene Tree for ELMO1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ELMO1: view image

Paralogs for ELMO1 Gene

Paralogs for ELMO1 Gene

(2) SIMAP similar genes for ELMO1 Gene using alignment to 9 proteins:

  • ELMO1_HUMAN
  • A4D1X5_HUMAN
  • C9IZR8_HUMAN
  • C9J5X3_HUMAN
  • C9JB20_HUMAN
  • C9JIW2_HUMAN
  • H7C0N5_HUMAN
  • H7C0S6_HUMAN
  • H7C3P3_HUMAN
genes like me logo Genes that share paralogs with ELMO1: view

Variants for ELMO1 Gene

Sequence variations from dbSNP and Humsavar for ELMO1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000008447 -- 37,127,895(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000010386 -- 37,374,781(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000010874 -- 37,055,459(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000014685 -- 37,179,221(-) A/T genic_upstream_transcript_variant, intron_variant
rs1000015939 -- 37,120,099(-) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ELMO1 Gene

Variant ID Type Subtype PubMed ID
dgv420n21 CNV loss 19592680
dgv810n27 CNV loss 19166990
esv1343363 CNV insertion 17803354
esv1547828 CNV deletion 17803354
esv2665995 CNV deletion 23128226
esv2671397 CNV deletion 23128226
esv2674526 CNV deletion 23128226
esv2734261 CNV deletion 23290073
esv2734263 CNV deletion 23290073
esv2734264 CNV deletion 23290073
esv2734265 CNV deletion 23290073
esv2734266 CNV deletion 23290073
esv2734267 CNV deletion 23290073
esv3344008 CNV insertion 20981092
esv3366840 CNV insertion 20981092
esv3541495 CNV deletion 23714750
esv3541497 CNV deletion 23714750
esv3612844 CNV loss 21293372
esv3612845 CNV loss 21293372
esv3612846 CNV loss 21293372
esv3612847 CNV loss 21293372
esv3612849 CNV loss 21293372
esv3612850 CNV loss 21293372
esv6168 CNV gain 19470904
esv7418 CNV gain 19470904
esv8354 CNV loss 19470904
nsv1017097 CNV gain 25217958
nsv1069110 OTHER inversion 25765185
nsv1074496 CNV deletion 25765185
nsv1122155 CNV deletion 24896259
nsv1137211 CNV deletion 24896259
nsv1137212 CNV deletion 24896259
nsv1140765 CNV deletion 24896259
nsv1145129 CNV deletion 24896259
nsv1146965 CNV deletion 26484159
nsv366178 CNV deletion 16902084
nsv437544 CNV loss 16327808
nsv442039 CNV loss 18776908
nsv507384 OTHER sequence alteration 20534489
nsv507385 OTHER sequence alteration 20534489
nsv523218 CNV loss 19592680
nsv5701 CNV deletion 18451855
nsv5702 CNV insertion 18451855
nsv5703 CNV deletion 18451855
nsv606621 CNV loss 21841781
nsv818496 CNV loss 17921354
nsv824066 CNV loss 20364138
nsv830961 CNV gain 17160897
nsv830962 CNV gain 17160897
nsv951631 CNV deletion 24416366
nsv957621 CNV deletion 24416366
nsv981452 CNV duplication 23825009

Variation tolerance for ELMO1 Gene

Residual Variation Intolerance Score: 11.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.24; 24.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ELMO1 Gene

Human Gene Mutation Database (HGMD)
ELMO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELMO1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELMO1 Gene

Disorders for ELMO1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ELMO1 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
diaphanospondylodysostosis
  • vertebral ossification, defect in, with nephrogenic rests
- elite association - COSMIC cancer census association via MalaCards
Search ELMO1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ELMO1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ELMO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ELMO1 Gene

Publications for ELMO1 Gene

  1. CED-12/ELMO, a novel member of the CrkII/Dock180/Rac pathway, is required for phagocytosis and cell migration. (PMID: 11595183) Gumienny TL … Ravichandran KS (Cell 2001) 2 3 4 58
  2. G-protein coupled receptor BAI3 promotes myoblast fusion in vertebrates. (PMID: 24567399) Hamoud N … Côté JF (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 58
  3. Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. (PMID: 21383967) Zhernakova A … Plenge RM (PLoS genetics 2011) 3 44 58
  4. Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. (PMID: 21399635) Mells GF … Anderson CA (Nature genetics 2011) 3 44 58
  5. A genome-wide association study of the Protein C anticoagulant pathway. (PMID: 22216198) Athanasiadis G … Soria JM (PloS one 2011) 3 44 58

Products for ELMO1 Gene

Sources for ELMO1 Gene

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