InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Eml1

Summary

InnateDB Protein

IDBP-170667.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Eml1

Protein Name

echinoderm microtubule associated protein like 1

Synonyms

1110008N23Rik; A930030P13Rik; AA171013; AI847476; AI853955; ELP79; EMAP; EMAPL;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000057209

InnateDB Gene

IDBG-170665 (Eml1)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:24859200}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:24859200}. Cytoplasm, perinuclear region {ECO:0000269PubMed:24859200}. Cytoplasm, cytoskeleton {ECO:0000269PubMed:24859200}. 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.

Disease Associations

Note=Defects in Eml1 are the cause of the neuronal heterotopia observed in HeCo mice. These mice display heterotopic neurons in the rostro-medial part of the neocortex, together with epilepsy and subtle learning deficits in adults. At 17 dpc both Tbr1(+) and Cux1(+) neurons contribute to the heterotopia. Three days after birth, most Tbr1(+) have reached their final destination, but many Cux1(+) neurons remain in the heterotopia and fail to reach cortical layers II to IV, contrary to the situation in wild-type. Besides, progenitor cells continue to proliferate, resulting in large numbers of abnormally positioned actively proliferating cells during both early and late stages of corticogenesis. In HeCo mice, insertion of a retrotransposon into Eml1 leads to the absence of full-length Eml1 transcripts.

Tissue Specificity

Detected in adult brain cortex, hippocampus and thalamus. {ECO:0000269PubMed:24859200}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0005515	protein binding

Biological Process

GO:0002244

hematopoietic progenitor cell differentiation

Cellular Component

GO:0005575	cellular_component
GO:0005737	cytoplasm
GO:0005874	microtubule

Protein Structure and Domains

PDB ID

MGI:1915769

InterPro

IPR001680 WD40 repeat
IPR005108 HELP
IPR011047 Quinonprotein alcohol dehydrogenase-like superfamily
IPR017986 WD40-repeat-containing domain

PFAM

PF00400
PF03451

PRINTS

PIRSF

SMART

SM00320

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q05BC3

PhosphoSite

PhosphoSite-Q05BC3

TrEMBL

UniProt Splice Variant

Entrez Gene

68519

UniGene

Mm.409166

RefSeq

NP_001273275

MGI ID

MGI Symbol

Eml1

OMIM

CCDS

CCDS36556

HPRD

IMGT

EMBL

BC053094 BC059839 BC079582 BC125289

GenPept

AAH53094 AAH59839 AAH79582 AAI25290