Aliases for EML3 Gene

Aliases for EML3 Gene

  • EMAP Like 3 2 3 5
  • Echinoderm Microtubule-Associated Protein-Like 3 3 4
  • Echinoderm Microtubule Associated Protein Like 3 2 3
  • EMAP-3 3 4
  • EMAP95 3
  • ELP95 3
  • EMAP3 3

External Ids for EML3 Gene

Previous GeneCards Identifiers for EML3 Gene

  • GC11M062127
  • GC11M062370
  • GC11M058698

Summaries for EML3 Gene

GeneCards Summary for EML3 Gene

EML3 (EMAP Like 3) is a Protein Coding gene. Diseases associated with EML3 include Retinitis Pigmentosa 7 and Retinitis Pigmentosa. An important paralog of this gene is EML4.

UniProtKB/Swiss-Prot Summary for EML3 Gene

  • May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic.

Additional gene information for EML3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EML3 Gene

Genomics for EML3 Gene

GeneHancer (GH) Regulatory Elements for EML3 Gene

Promoters and enhancers for EML3 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 EML3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EML3 gene promoter:
  • C/EBPalpha
  • CREB
  • deltaCREB
  • Max1
  • SEF-1 (1)
  • Sp1
  • YY1

Genomic Locations for EML3 Gene

Genomic Locations for EML3 Gene
chr11:62,602,218-62,612,765
(GRCh38/hg38)
Size:
10,548 bases
Orientation:
Minus strand
chr11:62,369,690-62,380,237
(GRCh37/hg19)
Size:
10,548 bases
Orientation:
Minus strand

Genomic View for EML3 Gene

Genes around EML3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EML3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EML3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EML3 Gene

Proteins for EML3 Gene

  • Protein details for EML3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q32P44-EMAL3_HUMAN
    Recommended name:
    Echinoderm microtubule-associated protein-like 3
    Protein Accession:
    Q32P44
    Secondary Accessions:
    • Q6ZQW7
    • Q8NA55

    Protein attributes for EML3 Gene

    Size:
    896 amino acids
    Molecular mass:
    95197 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04073.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC87566.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for EML3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EML3 Gene

Post-translational modifications for EML3 Gene

  • Ubiquitination at Lys34 and Lys577
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EML3 Gene

Domains & Families for EML3 Gene

Gene Families for EML3 Gene

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

Suggested Antigen Peptide Sequences for EML3 Gene

GenScript: Design optimal peptide antigens:
  • Echinoderm microtubule-associated protein-like 3 (EMAL3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q32P44

UniProtKB/Swiss-Prot:

EMAL3_HUMAN :
  • Belongs to the WD repeat EMAP family.
Family:
  • Belongs to the WD repeat EMAP family.
genes like me logo Genes that share domains with EML3: view

Function for EML3 Gene

Molecular function for EML3 Gene

UniProtKB/Swiss-Prot Function:
May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic.

Phenotypes From GWAS Catalog for EML3 Gene

Gene Ontology (GO) - Molecular Function for EML3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0008017 microtubule binding IBA 21873635
genes like me logo Genes that share ontologies with EML3: view
genes like me logo Genes that share phenotypes with EML3: view

Animal Model Products

CRISPR Products

miRNA for EML3 Gene

miRTarBase miRNAs that target EML3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EML3 Gene

Localization for EML3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EML3 Gene

Cytoplasm, cytoskeleton.

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 EML3 gene
Compartment Confidence
cytoskeleton 3
nucleus 3
plasma membrane 1
cytosol 1
extracellular 0
mitochondrion 0
peroxisome 0
endoplasmic reticulum 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for EML3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0072686 colocalizes_with mitotic spindle IBA 21873635
genes like me logo Genes that share ontologies with EML3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EML3 Gene

Pathways & Interactions for EML3 Gene

PathCards logo

SuperPathways for EML3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EML3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IBA 21873635
genes like me logo Genes that share ontologies with EML3: view

No data available for Pathways by source and SIGNOR curated interactions for EML3 Gene

Drugs & Compounds for EML3 Gene

No Compound Related Data Available

Transcripts for EML3 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EML3 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ^
SP1: - - - -
SP2: - - - - -
SP3: - -
SP4: -
SP5: - -
SP6: -
SP7:
SP8:
SP9:

ExUns: 21a · 21b · 21c ^ 22a · 22b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for EML3 Gene

GeneLoc Exon Structure for
EML3
ECgene alternative splicing isoforms for
EML3

Expression for EML3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EML3 Gene

Protein differential expression in normal tissues from HIPED for EML3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.1), Lymph node (17.5), and Tlymphocyte (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EML3 Gene



Protein tissue co-expression partners for EML3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EML3 Gene:

EML3

SOURCE GeneReport for Unigene cluster for EML3 Gene:

Hs.379785

Evidence on tissue expression from TISSUES for EML3 Gene

  • Liver(4.2)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with EML3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EML3 Gene

Orthologs for EML3 Gene

This gene was present in the common ancestor of animals.

Orthologs for EML3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EML3 33 32
  • 99.59 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EML3 33
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EML3 33 32
  • 91.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EML3 33 32
  • 89.83 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Eml3 17 33 32
  • 87.95 (n)
rat
(Rattus norvegicus)
Mammalia LOC102551660 32
  • 87.83 (n)
oppossum
(Monodelphis domestica)
Mammalia EML3 33
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EML3 33
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eml3 32
  • 64.93 (n)
zebrafish
(Danio rerio)
Actinopterygii eml3 33 32
  • 67.45 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta DCX-EMAP 33
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea elp-1 33
  • 23 (a)
OneToMany
Species where no ortholog for EML3 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)
  • chicken (Gallus gallus)
  • 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 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)

Evolution for EML3 Gene

ENSEMBL:
Gene Tree for EML3 (if available)
TreeFam:
Gene Tree for EML3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EML3: view image

Paralogs for EML3 Gene

Paralogs for EML3 Gene

(7) SIMAP similar genes for EML3 Gene using alignment to 9 proteins:

  • EMAL3_HUMAN
  • B7WPE2_HUMAN
  • C9J6V3_HUMAN
  • E9PJV5_HUMAN
  • E9PSB4_HUMAN
  • G3V195_HUMAN
  • G3V1D0_HUMAN
  • H0Y3M3_HUMAN
  • H7C355_HUMAN
genes like me logo Genes that share paralogs with EML3: view

Variants for EML3 Gene

Sequence variations from dbSNP and Humsavar for EML3 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs137950927 benign, likely-benign, not specified, Retinitis Pigmentosa, Dominant 62,614,479(-) T/A/C upstream_transcript_variant
rs1387102485 pathogenic, Retinitis pigmentosa 7, digenic 62,613,518(-) GGG/GGGG upstream_transcript_variant
rs139971812 uncertain-significance, Retinitis Pigmentosa, Dominant 62,614,769(-) C/T upstream_transcript_variant
rs141629524 uncertain-significance, Retinitis Pigmentosa, Dominant, not provided 62,614,260(-) G/A/C upstream_transcript_variant
rs148196509 uncertain-significance, not provided, Retinitis Pigmentosa, Dominant 62,613,362(-) G/A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for EML3 Gene

Variant ID Type Subtype PubMed ID
esv3579735 CNV loss 25503493
esv3584599 CNV gain 24956385
nsv476119 CNV novel sequence insertion 20440878
nsv555174 CNV gain 21841781
nsv825939 CNV gain 20364138
nsv832182 CNV gain+loss 17160897

Variation tolerance for EML3 Gene

Residual Variation Intolerance Score: 5.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.46; 71.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EML3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EML3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EML3 Gene

Disorders for EML3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EML3 Gene - From: GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 7
  • rp7
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search EML3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EML3

genes like me logo Genes that share disorders with EML3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EML3 Gene

Publications for EML3 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  2. 14-3-3-affinity purification of over 200 human phosphoproteins reveals new links to regulation of cellular metabolism, proliferation and trafficking. (PMID: 14744259) Pozuelo Rubio M … Mackintosh C (The Biochemical journal 2004) 2 3 56
  3. Eml5, a novel WD40 domain protein expressed in rat brain. (PMID: 15225882) O'Connor V … French PJ (Gene 2004) 2 3 56
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 56

Products for EML3 Gene

  • Biorbyt antibodies for EML3

Sources for EML3 Gene