EML1
entrez
2009
canonical
uniprot
O00423
canonical
ensembl
ENSG00000066629
resolver
ensp
ENSP00000262233
resolver
ensp
ENSP00000334314
resolver
ensp
ENSP00000498100
resolver
ensp
ENSP00000579137
resolver
ensp
ENSP00000579141
resolver
genesymbol
EML1
resolver
genesymbol_syn
EMAP1
resolver
genesymbol_syn
EMAPL
resolver
genesymbol_syn
EMAPL1
resolver
hgnc
HGNC:3330
resolver
uniprot
Q86U15
resolver
uniprot
Q8N536
resolver
uniprot
Q8N5C4
resolver
uniprot
Q8WWL6
resolver
uniprot_entry
EMAL1_HUMAN
resolver
uniprot_sec
Q86U15
resolver
uniprot_sec
Q8N536
resolver
uniprot_sec
Q8N5C4
resolver
uniprot_sec
Q8WWL6
resolver
amino_acid_sequence
MEDGFSSYSSLYDTSSLLQFCNDDSASAASSMEVTDRIASLEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKGPTKARPLMQTLPLRTTVNNGTVLPKKPTGSLPSPSGVRKETAVPATKSNIKRTSSSERVSPGGRRESNGDSRGNRNRTGSTSSSSSGKKNSESKPKEPVFSAEEGYVKMFLRGRPVTMYMPKDQVDSYSLEAKVELPTKRLKLEWVYGYRGRDCRNNLYLLPTGETVYFIASVVVLYNVEEQLQRHYAGHNDDVKCLAVHPDRITIATGQVAGTSKDGKQLPPHVRIWDSVTLNTLHVIGIGFFDRAVTCIAFSKSNGGTNLCAVDDSNDHVLSVWDWQKEEKLADVKCSNEAVFAADFHPTDTNIIVTCGKSHLYFWTLEGSSLNKKQGLFEKQEKPKFVLCVTFSENGDTITGDSSGNILVWGKGTNRISYAVQGAHEGGIFALCMLRDGTLVSGGGKDRKLISWSGNYQKLRKTEIPEQFGPIRTVAEGKGDVILIGTTRNFVLQGTLSGDFTPITQGHTDELWGLAIHASKSQFLTCGHDKHATLWDAVGHRPVWDKIIEDPAQSSGFHPSGSVVAVGTLTGRWFVFDTETKDLVTVHTDGNEQLSVMRYSPDGNFLAIGSHDNCIYIYGVSDNGRKYTRVGKCSGHSSFITHLDWSVNSQFLVSNSGDYEILYWVPSACKQVVSVETTRDIEWATYTCTLGFHVFGVWPEGSDGTDINAVCRAHEKKLLSTGDDFGKVHLFSYPCSQFRAPSHIYGGHSSHVTNVDFLCEDSHLISTGGKDTSIMQWRVI
uniprot
proteins
disease_involvement
DISEASE: 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, ECO:0000269|PubMed:28556411}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:0000250|UniProtKB:Q05BC3}.
uniprot
proteins
mass_dalton
89861
uniprot
proteins
mutagenesis
MUTAGEN 59..61; /note="LAD->AAA: No effect on tubulin binding. Does not disrupt self-association. Decreased association with microtubules."; /evidence="ECO:0000269|PubMed:24706829, ECO:0000269|PubMed:25740311"; MUTAGEN 192; /note="R->S: Abolishes tubulin binding; when associated with S-194; A-547; T-626; S-627; A-646 and A-786."; /evidence="ECO:0000269|PubMed:24706829"; MUTAGEN 194; /note="R->S: Abolishes tubulin binding; when associated with S-192; A-547; T-626; S-627; A-646 and A-786."; /evidence="ECO:0000269|PubMed:24706829"; MUTAGEN 547; /note="W->A: Abolishes tubulin binding; when associated with S-192; S-194; T-626; S-627; A-646 and A-786."; /evidence="ECO:0000269|PubMed:24706829"; MUTAGEN 626; /note="N->T: Abolishes tubulin binding; when associated with S-192; S-194; A-547; S-627; A-646 and A-786."; /evidence="ECO:0000269|PubMed:24706829"; MUTAGEN 627; /note="E->S: Abolishes tubulin binding; when associated with S-192; S-194; A-547; T-626; A-646 and A-786."; /evidence="ECO:0000269|PubMed:24706829"; MUTAGEN 646; /note="H->A: Abolishes tubulin binding; when associated with S-192; S-194; A-547; T-626; S-627 and A-786."; /evidence="ECO:0000269|PubMed:24706829"; MUTAGEN 786; /note="H->A: Abolishes tubulin binding; when associated with S-192; S-194; A-547; T-626; S-627 and A-646."; /evidence="ECO:0000269|PubMed:24706829
uniprot
proteins
protein_family
WD repeat EMAP family
uniprot
proteins
pubmed
10521658
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24706829
uniprot
proteins
pubmed
24859200
uniprot
proteins
pubmed
25740311
uniprot
proteins
pubmed
28556411
uniprot
proteins
pubmed
9226380
uniprot
proteins
sequence_length
815
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q05BC3}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q05BC3}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:24859200, ECO:0000269|PubMed:25740311}. Note=Detected in cytoplasmic punctae. Co-localizes with microtubules (PubMed:24859200, PubMed:25740311). 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, ECO:0000269|PubMed:25740311}.
uniprot
proteins