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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
  • Echinoderm Microtubule-Associated Protein-Like 1 3
  • HuEMAP 3
  • EMAPL1 4
  • ELP79 3
  • EMAP1 4
  • EMAP 3
  • BH 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 Band Heterotopia and Subcortical Band Heterotopia. 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.

Gene Wiki entry for EML1 Gene

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

Genomics for EML1 Gene

Regulatory Elements for EML1 Gene

Enhancers for EML1 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
GH14G099766 1.5 FANTOM5 Ensembl ENCODE dbSUPER 23.1 +30.1 30070 2.8 CTCF RFX1 RNF2 BMI1 YY1 ZNF121 JUND ZBTB33 HNF4A PRDM10 EML1 HHIPL1 GC14M099754 GC14M099882
GH14G099808 1.2 Ensembl ENCODE dbSUPER 22.8 +72.0 72030 2.0 CTCF PKNOX1 RNF2 USF2 MNT REST E2F1 RAD51 POLR2A CREB1 EML1 GC14M099754 GC14M099882
GH14G099560 2.5 VISTA FANTOM5 Ensembl ENCODE dbSUPER 10.1 -168.7 -168687 18.0 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 FEZF1 ZNF2 ZBTB7B CCDC85C ENSG00000234648 ENSG00000247970 HHIPL1 RPL3P4 EML1 SETD3 GC14P099584 GC14M099518
GH14G099772 1.3 ENCODE dbSUPER 19 +35.4 35398 1.5 HDGF ATF1 PKNOX1 CREB3L1 ARNT ZNF133 SIN3A GLI4 ZNF48 ZNF2 EML1 HHIPL1 GC14M099754 GC14M099882
GH14G099791 1.1 ENCODE dbSUPER 18.5 +54.9 54931 3.0 RB1 SIN3A THRB ZNF121 SCRT2 ZNF362 CEBPB NR2F2 CBX8 ZNF341 EML1 GC14M099754 GC14M099882
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EML1 on UCSC Golden Path with GeneCards custom track

Promoters for EML1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000073005 207 601 ELF3 PKNOX1 SIN3A DMAP1 THRB ZSCAN9 DNMT3B YY1 SLC30A9 ZNF121

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 (PubMed:24859200). Binds unpolymerized tubulins via its WD repeat region (PubMed:24706829).
    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

Post-translational modifications for EML1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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.
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.
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.

Gene Ontology (GO) - Molecular Function for EML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding NAS 9226380
GO:0005515 protein binding IPI 16189514
GO:0008017 microtubule binding ISS --
GO:0015631 tubulin binding IDA 24706829
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

CRISPR Products

Inhibitory RNA Products

Flow Cytometry 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 (PubMed:24859200). 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 UniProtKB:Q05BC3, ECO:0000269 PubMed:24859200}.

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 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:0005737 cytoplasm IEA --
GO:0005829 cytosol ISS --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0005875 microtubule associated complex TAS 9226380
genes like me logo Genes that share ontologies with EML1: view

Pathways & Interactions for EML1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization ISS --
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0007052 mitotic spindle organization ISS --
GO:0007405 neuroblast proliferation ISS --
GO:0007420 brain development 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

Transcripts for EML1 Gene

Unigene Clusters for EML1 Gene

Echinoderm microtubule associated protein like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for EML1 Gene



Protein tissue co-expression partners for EML1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EML1 Gene:

EML1

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.

Evidence on tissue expression from TISSUES for EML1 Gene

  • Nervous system(4.9)
  • Liver(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EML1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Thorax:
  • chest wall
Abdomen:
  • abdominal wall
Pelvis:
  • penis
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with EML1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia EML1 34 35
  • 99.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EML1 35
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EML1 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EML1 34 35
  • 89.85 (n)
rat
(Rattus norvegicus)
Mammalia Eml1 34
  • 86.68 (n)
mouse
(Mus musculus)
Mammalia Eml1 34 16 35
  • 86.65 (n)
cow
(Bos Taurus)
Mammalia EMAPL 35
  • 82 (a)
OneToOne
EML1 34
  • 81.3 (n)
chicken
(Gallus gallus)
Aves EML1 34 35
  • 83.29 (n)
lizard
(Anolis carolinensis)
Reptilia EML1 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495318 34
  • 77.18 (n)
zebrafish
(Danio rerio)
Actinopterygii eml1 34 35
  • 74.33 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13466 36
  • 37 (a)
DCX-EMAP 35
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea elp-1 36 35
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10048 35
  • 50 (a)
OneToMany
Species where no ortholog for EML1 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)

Evolution for EML1 Gene

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

Paralogs for EML1 Gene

Variants for EML1 Gene

Sequence variations from dbSNP and Humsavar for EML1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_071075 Band heterotopia (BH) [MIM:600348]
VAR_071076 Band heterotopia (BH) [MIM:600348]
rs886037935 Pathogenic 99,878,513(+) CTGAA(C/T)GAGTG reference, stop-gained
rs886037936 Pathogenic 99,897,194(+) TTCCG(A/G)CGGGA reference, missense
rs886037937 Pathogenic 99,894,754(+) TGGAA(C/T)GGGTG reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1332e59 CNV tandem duplication 20981092
dgv3894n54 CNV loss 21841781
esv23688 CNV loss 19812545
esv2435902 CNV insertion 19546169
esv2605680 CNV insertion 19546169
esv2667613 CNV deletion 23128226
esv29292 CNV loss 19812545
esv3327382 CNV duplication 20981092
esv3552049 CNV deletion 23714750
esv3568431 CNV gain 25503493
esv3635490 CNV loss 21293372
nsv1036863 CNV gain 25217958
nsv1071168 CNV deletion 25765185
nsv1118288 CNV deletion 24896259
nsv1142175 CNV tandem duplication 24896259
nsv456426 CNV gain 19166990
nsv513419 CNV insertion 21212237
nsv520997 CNV loss 19592680
nsv524048 CNV loss 19592680
nsv524475 CNV loss 19592680
nsv527865 CNV loss 19592680
nsv565733 CNV gain 21841781
nsv565764 CNV loss 21841781
nsv565765 CNV loss 21841781
nsv565770 CNV loss 21841781
nsv565771 CNV loss 21841781
nsv565772 CNV gain 21841781
nsv832873 CNV gain 17160897

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

Human Gene Mutation Database (HGMD)
EML1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EML1

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

Disorders for EML1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for EML1 Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
band heterotopia
  • band heterotopia of brain
subcortical band heterotopia
  • dc
usher syndrome
  • retinitis pigmentosa-deafness 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
  • Band heterotopia (BH) [MIM:600348]: A brain malformation of the lissencephaly spectrum, resulting from disordered neuronal migration and characterized by bands of gray matter interposed in the central white matter. Disease features include severe developmental delay with intellectual disability, enlarged head circumference, periventricular and ribbon-like subcortical heterotopia, polymicrogyria and agenesis of the corpus callosum. {ECO:0000269 PubMed:24859200}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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 22 64
  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 4 22 64
  3. 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 4 64
  4. Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human. (PMID: 24859200) Kielar M. … Francis F. (Nat. Neurosci. 2014) 3 4 64
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64

Products for EML1 Gene

Sources for EML1 Gene

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