Entity Details

Primary name EMAL1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO00423
EntryNameEMAL1_HUMAN
FullNameEchinoderm microtubule-associated protein-like 1
TaxID9606
Evidenceevidence at protein level
Length815
SequenceStatuscomplete
DateCreated2001-10-18
DateModified2021-06-02

Ontological Relatives

GenesEML1

GO terms

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GOName
GO:0000226 microtubule cytoskeleton organization
GO:0005509 calcium ion binding
GO:0005829 cytosol
GO:0005874 microtubule
GO:0005875 microtubule associated complex
GO:0007052 mitotic spindle organization
GO:0007405 neuroblast proliferation
GO:0007420 brain development
GO:0008017 microtubule binding
GO:0015631 tubulin binding
GO:0048471 perinuclear region of cytoplasm

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR001680 WD40 repeatRepeatRepeat
IPR005108 HELPDomainDomain
IPR011047 Quinoprotein alcohol dehydrogenase-like superfamilyFamilyHomologous superfamily
IPR015943 WD40/YVTN repeat-like-containing domain superfamilyFamilyHomologous superfamily
IPR036322 WD40-repeat-containing domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
600348 OMIMBand heterotopia (BH)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. The disease is caused by variants affecting the gene represented in this entry.