ID  Q05BC3;
PN  Echinoderm microtubule-associated protein-like 1;
GN  Eml1;
OS  10090;
SL  Nucleus Position: SL-0198;
SL  Comments: Cytoplasm {ECO:0000269|PubMed:24859200}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:24859200}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed: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. {ECO:0000269|PubMed:24859200}.
DR  UNIPROT: Q05BC3;
DR  UNIPROT: Q05AF8;
DR  UNIPROT: Q0P5V3;
DR  Pfam: PF03451;
DR  Pfam: PF00400;
DR  PROSITE: PS00678;
DR  PROSITE: PS50082;
DR  PROSITE: PS50294;
DE  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:0000269|PubMed:24859200}.
DE  Disease: 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.
DE  Reference Proteome: Yes;
DE  Interaction: P35922; IntAct: EBI-16728828; Score: 0.35
GO  GO:0005829;
GO  GO:0005874;
GO  GO:0015630;
GO  GO:0048471;
GO  GO:0008017;
GO  GO:0015631;
GO  GO:0007420;
GO  GO:0002244;
GO  GO:0000226;
GO  GO:0007052;
GO  GO:0007405;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  MEDGFSSYSSLYDTSSLLQFCNDDSASAASSMEVSDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKG
SQ  PTKARPLGQTLPLRTTVNNGTVLPKKPSASLPAPSGARKEVVVPVTKSINRTSSSERVSPGGRRESSGDSKGSRNRTGST
SQ  SSSSSGKKNSESKPKEPAFSPEEGYVKMFLRGRPVTMYMPKDQVDSYSLEAKAELPTKRLKLEWVYGYRGRDCRNNLYLL
SQ  PTGETVYFIASVVVLYNVEEQLQRHYAGHNDDVKCLAVHPDRITIATGQVAGTSKDGKQLPPHVRIWDSVTLNTLHVIGI
SQ  GFFDRAVTCIAFSKSNGGGHLCAVDDSNDHVLSVWDWQKEERLADVKCSNEAVFAADFHPTDTNIIVTCGKSHLYFWTLE
SQ  GNSLNKKQGLFEKQEKPKFVLCVTFSENGDTITGDSSGNILVWGKGTNRISYAVQGAHEGGIFALCMLRDGTLVSGGGKD
SQ  RRLISWNGNYQKLHKAEIPEQFGPIRTVAEGKGNVILIGTTRNFVLQGTLSGDFTPITQGHTDELWGLAIHASKPQFLTC
SQ  GHDKHATLWDAVGHRPVWDKIIEDPAQSSGFHPSGSVVAVGTLTGRWFVFDTETKDLVTVHTDGNEQLSVMRYSPDGNFL
SQ  AIGSHDNCIYIYGVTDNGRKYTRVGKCSGHSSFITHLDWSVNSQFLVSNSGDYEILYWVPSACKQVVSVETTRDIEWATY
SQ  TCTLGFHVFGVWPEGSDGTDINAVCRAHERKLLCTGDDFGKVHLFSYPCSQFRAPSHIYSGHSSHVTNVDFLCEDSHLIS
SQ  TGGKDTSIMQWRVI
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