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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. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for EML1 Gene

Promoters and enhancers for EML1 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
GH14I099791 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 568.5 +55.0 54972 3.1 RB1 SIN3A THRB RFX5 ZNF335 SCRT2 ZNF362 RXRA ZBTB11 CEBPB EML1 GC14M099754 GC14M099882
GH14I099736 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 558.8 +1.1 1063 4.4 NCOA3 CLOCK ZNF449 NFIB ZSCAN4 SIN3A ZIC2 ZNF507 HIC1 GATA3 EML1 EVL GC14P099742
GH14I099766 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 23.1 +30.1 30069 2.8 RFX1 RNF2 BMI1 YY1 ZNF121 JUND FOS HNF4A EML1 HHIPL1 GC14M099754 GC14M099882
GH14I099808 Enhancer 1 Ensembl ENCODE dbSUPER 22.8 +72.0 72030 2 CTCF PKNOX1 RNF2 USF2 MNT ELF1 MITF E2F1 GATA3 POLR2A EML1 GC14M099754 GC14M099882
GH14I099560 Enhancer 2.1 VISTA FANTOM5 Ensembl ENCODE dbSUPER 10.1 -168.7 -168687 18 HDGF FOXA2 PKNOX1 CLOCK MLX ARNT ARID4B SIN3A FEZF1 DMAP1 CCDC85C CCNK ENSG00000234648 ENSG00000247970 HHIPL1 RPL3P4 EML1 SETD3 GC14P099584 GC14M099518
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EML1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EML1 gene promoter:

Genomic Locations for EML1 Gene

Genomic Locations for EML1 Gene
chr14:99,737,693-99,942,060
(GRCh38/hg38)
Size:
204,368 bases
Orientation:
Plus strand
chr14:100,204,030-100,408,397
(GRCh37/hg19)

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

No Post-translational modifications

No data available for DME Specific Peptides for EML1 Gene

Domains & Families for EML1 Gene

Gene Families for EML1 Gene

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

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.

Phenotypes From GWAS Catalog for EML1 Gene

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,IEA --
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

Clone 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,IEA --
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EML1 Gene

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,IEA --
GO:0007405 neuroblast proliferation ISS,IEA --
GO:0007420 brain development ISS,IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone 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
Regions:
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 33 34
  • 99.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EML1 34
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EML1 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EML1 33 34
  • 89.85 (n)
rat
(Rattus norvegicus)
Mammalia Eml1 33
  • 86.68 (n)
mouse
(Mus musculus)
Mammalia Eml1 33 16 34
  • 86.65 (n)
cow
(Bos Taurus)
Mammalia EMAPL 34
  • 82 (a)
OneToOne
EML1 33
  • 81.3 (n)
chicken
(Gallus gallus)
Aves EML1 33 34
  • 83.29 (n)
lizard
(Anolis carolinensis)
Reptilia EML1 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495318 33
  • 77.18 (n)
zebrafish
(Danio rerio)
Actinopterygii eml1 33 34
  • 74.33 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13466 35
  • 37 (a)
DCX-EMAP 34
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea elp-1 35 34
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10048 34
  • 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 Variation AA Info Type
rs886037935 pathogenic, Band heterotopia 99,878,513(+) C/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs886037936 pathogenic, Band heterotopia, Band heterotopia (BH) [MIM:600348] 99,897,194(+) A/G coding_sequence_variant, missense_variant
rs886037937 pathogenic, Band heterotopia, Band heterotopia (BH) [MIM:600348] 99,894,754(+) T/C coding_sequence_variant, missense_variant
rs1000008963 -- 99,813,975(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000027117 -- 99,809,326(+) G/T genic_upstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
band heterotopia
  • bh
subcortical band heterotopia
  • dc
usher syndrome
  • retinitis pigmentosa-deafness syndrome
usher syndrome, type i
  • ush1
retinitis pigmentosa
  • rp
- 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.

Additional Disease Information for EML1

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 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 DM … Suprenant KA (Gene 1999) 2 3 4 22 58
  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 JD … Sumegi J (Genomics 1997) 2 3 4 22 58
  3. Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human. (PMID: 24859200) Kielar M … Francis F (Nature neuroscience 2014) 3 4 58
  4. Crystal structure of EML1 reveals the basis for Hsp90 dependence of oncogenic EML4-ALK by disruption of an atypical β-propeller domain. (PMID: 24706829) Richards MW … Bayliss R (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 58
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 44 58

Products for EML1 Gene

Sources for EML1 Gene

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