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Aliases for EML1 Gene

Aliases for EML1 Gene

  • Echinoderm Microtubule Associated Protein Like 1 2 3 5
  • HuEMAP-1 3 4
  • EMAP-1 3 4
  • EMAPL 3 4
  • HuEMAP 3
  • EMAPL1 4
  • ELP79 3
  • EMAP1 4
  • EMAP 3

External Ids for EML1 Gene

Previous HGNC Symbols for EML1 Gene

  • EMAPL

Previous GeneCards Identifiers for EML1 Gene

  • GC14P097771
  • GC14P094075
  • GC14P098249
  • GC14P098231
  • GC14P099329
  • GC14P100259
  • GC14P080500

Summaries for EML1 Gene

Entrez Gene Summary for EML1 Gene

  • Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for EML1 Gene

EML1 (Echinoderm Microtubule Associated Protein Like 1) is a Protein Coding gene. Diseases associated with EML1 include subcortical band heterotopia and usher syndrome. GO annotations related to this gene include calcium ion binding and tubulin binding. An important paralog of this gene is EML2.

UniProtKB/Swiss-Prot for EML1 Gene

  • Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuronal progenitor cells in the developing brain and for normal brain development. Does not affect neuron migration per se (By similarity).

Gene Wiki entry for EML1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EML1 Gene

Genomics for EML1 Gene

Regulatory Elements for EML1 Gene

Promoters for EML1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EML1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EML1 Gene

Chromosome:
14
Start:
99,737,693 bp from pter
End:
99,942,060 bp from pter
Size:
204,368 bases
Orientation:
Plus strand

Genomic View for EML1 Gene

Genes around EML1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EML1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EML1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EML1 Gene

Proteins for EML1 Gene

  • Protein details for EML1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00423-EMAL1_HUMAN
    Recommended name:
    Echinoderm microtubule-associated protein-like 1
    Protein Accession:
    O00423
    Secondary Accessions:
    • Q86U15
    • Q8N536
    • Q8N5C4
    • Q8WWL6

    Protein attributes for EML1 Gene

    Size:
    815 amino acids
    Molecular mass:
    89861 Da
    Quaternary structure:
    • Binds repolymerizing microtubules (By similarity). Binds unpolymerized tubulins via its WD repeat region.
    SequenceCaution:
    • Sequence=AAB57824.1; Type=Frameshift; Positions=168, 392, 405, 414, 420; Evidence={ECO:0000305}; Sequence=CAD62313.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EML1 Gene

    Alternative splice isoforms for EML1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EML1 Gene

Proteomics data for EML1 Gene at MOPED

Post-translational modifications for EML1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for EML1 Gene

Domains & Families for EML1 Gene

Gene Families for EML1 Gene

Suggested Antigen Peptide Sequences for EML1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00423

UniProtKB/Swiss-Prot:

EMAL1_HUMAN :
  • Contains a tandem atypical propeller in EMLs (TAPE) domain. The N-terminal beta-propeller is formed by canonical WD repeats; in contrast, the second beta-propeller contains one blade that is formed by discontinuous parts of the polypeptide chain.
  • Belongs to the WD repeat EMAP family.
  • Contains 11 WD repeats.
Domain:
  • Contains a tandem atypical propeller in EMLs (TAPE) domain. The N-terminal beta-propeller is formed by canonical WD repeats; in contrast, the second beta-propeller contains one blade that is formed by discontinuous parts of the polypeptide chain.
Family:
  • Belongs to the WD repeat EMAP family.
Similarity:
  • Contains 11 WD repeats.
genes like me logo Genes that share domains with EML1: view

Function for EML1 Gene

Molecular function for EML1 Gene

UniProtKB/Swiss-Prot Function:
Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuronal progenitor cells in the developing brain and for normal brain development. Does not affect neuron migration per se (By similarity).

Gene Ontology (GO) - Molecular Function for EML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 16189514
genes like me logo Genes that share ontologies with EML1: view
genes like me logo Genes that share phenotypes with EML1: view

Human Phenotype Ontology for EML1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EML1 Gene

Localization for EML1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EML1 Gene

Cytoplasm. Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton. Note=Detected in cytoplasmic punctae. Co-localizes with microtubules. Enriched in perinuclear regions during interphase and in the region of spindle microtubules during metaphase. Enriched at the midzone during telophase and cytokinesis. Detected at growth cones in neurons (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EML1 Gene COMPARTMENTS Subcellular localization image for EML1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 4

Gene Ontology (GO) - Cellular Components for EML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1990023 colocalizes_with mitotic spindle midzone IEA,ISS --
genes like me logo Genes that share ontologies with EML1: view

Pathways & Interactions for EML1 Gene

SuperPathways for EML1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007420 brain development IEA,ISS --
genes like me logo Genes that share ontologies with EML1: view

No data available for Pathways by source and SIGNOR curated interactions for EML1 Gene

Drugs & Compounds for EML1 Gene

No Compound Related Data Available

Transcripts for EML1 Gene

Unigene Clusters for EML1 Gene

Echinoderm microtubule associated protein like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EML1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - - - - -
SP2: - - - - - -
SP3:
SP4:
SP5: - - - -
SP6: -
SP7: -
SP8:
SP9: - -

ExUns: 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b · 29c
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for EML1 Gene

GeneLoc Exon Structure for
EML1
ECgene alternative splicing isoforms for
EML1

Expression for EML1 Gene

mRNA expression in normal human tissues for EML1 Gene

Protein differential expression in normal tissues from HIPED for EML1 Gene

This gene is overexpressed in Colon muscle (13.0), Rectum (9.8), Urinary Bladder (9.7), and Colon (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for EML1 Gene



SOURCE GeneReport for Unigene cluster for EML1 Gene Hs.12451

mRNA Expression by UniProt/SwissProt for EML1 Gene

O00423-EMAL1_HUMAN
Tissue specificity: Ubiquitous; expressed in most tissues with the exception of thymus and peripheral blood lymphocytes.
genes like me logo Genes that share expression patterns with EML1: view

Protein tissue co-expression partners for EML1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for EML1 Gene

Orthologs for EML1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EML1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EML1 35
  • 81.3 (n)
  • 84.81 (a)
EMAPL 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EML1 35
  • 89.85 (n)
  • 96.56 (a)
EML1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eml1 35
  • 86.65 (n)
  • 96.19 (a)
Eml1 16
Eml1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EML1 35
  • 99.64 (n)
  • 99.76 (a)
EML1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eml1 35
  • 86.68 (n)
  • 96.17 (a)
oppossum
(Monodelphis domestica)
Mammalia EML1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EML1 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves EML1 35
  • 83.29 (n)
  • 92.19 (a)
EML1 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EML1 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495318 35
  • 77.18 (n)
  • 84.96 (a)
zebrafish
(Danio rerio)
Actinopterygii eml1 35
  • 74.33 (n)
  • 79.34 (a)
eml1 36
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13466 37
  • 37 (a)
DCX-EMAP 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea elp-1 37
  • 27 (a)
elp-1 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10048 36
  • 50 (a)
OneToMany
Species with no ortholog for EML1:
  • 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)

Evolution for EML1 Gene

ENSEMBL:
Gene Tree for EML1 (if available)
TreeFam:
Gene Tree for EML1 (if available)

Paralogs for EML1 Gene

Paralogs for EML1 Gene

genes like me logo Genes that share paralogs with EML1: view

Variants for EML1 Gene

Sequence variations from dbSNP and Humsavar for EML1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs34198557 - 99,909,370(+) TGCTG(C/T)GGATT reference, missense
rs17853154 - 99,914,599(+) CCATC(A/C)ATGCC intron-variant, reference, missense
rs2250718 - 99,914,611(-) CTGAG(A/G)TTTTG intron-variant, reference, missense
VAR_071075 -
VAR_071076 -

Structural Variations from Database of Genomic Variants (DGV) for EML1 Gene

Variant ID Type Subtype PubMed ID
esv23688 CNV Loss 19812545
esv2667613 CNV Deletion 23128226
esv29292 CNV Loss 19812545
nsv832873 CNV Gain 17160897
nsv520997 CNV Loss 19592680
nsv456426 CNV Gain 19166990
nsv527865 CNV Loss 19592680
nsv524048 CNV Loss 19592680
nsv524475 CNV Loss 19592680
esv259507 OTHER Complex 20981092
esv2605680 CNV Insertion 19546169
esv259967 OTHER Complex 20981092
esv2435902 CNV Insertion 19546169
nsv513419 CNV Insertion 21212237

Variation tolerance for EML1 Gene

Residual Variation Intolerance Score: 5.81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.55; 86.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EML1 Gene

HapMap Linkage Disequilibrium report
EML1
Human Gene Mutation Database (HGMD)
EML1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EML1 Gene

Disorders for EML1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EML1 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
subcortical band heterotopia
  • subcortical laminar heterotopia
usher syndrome
  • deafness-retinitis pigmentosa syndrome
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search EML1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EMAL1_HUMAN
  • Note=Mutations in this gene are associated with atypical heterotopia, epilepsy and mental retardation. Patients present giant bilateral periventricular and ribbon-like subcortical heterotopia with polymicrogyria and agenesis of the corpus callosum.

Relevant External Links for EML1

Genetic Association Database (GAD)
EML1
Human Genome Epidemiology (HuGE) Navigator
EML1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EML1
genes like me logo Genes that share disorders with EML1: view

No data available for Genatlas for EML1 Gene

Publications for EML1 Gene

  1. Sequence and expression patterns of a human EMAP-related protein-2 (HuEMAP-2). (PMID: 10521658) Lepley D.M. … Suprenant K.A. (Gene 1999) 2 3 4 23 67
  2. Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32. (PMID: 9226380) Eudy J.D. … Sumegi J. (Genomics 1997) 2 3 23
  3. Microtubule association of EML proteins and the EML4-ALK variant 3 oncoprotein require an N-terminal trimerization domain. (PMID: 25740311) Richards M.W. … Bayliss R. (Biochem. J. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Crystal structure of EML1 reveals the basis for Hsp90 dependence of oncogenic EML4-ALK by disruption of an atypical ?-propeller domain. (PMID: 24706829) Richards M.W. … Bayliss R. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3

Products for EML1 Gene

Sources for EML1 Gene

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