Version 5.4
| Homo sapiens Protein: EML1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Protein | IDBP-19847.5 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | EML1 | ||||||||||||||||||
| Protein Name | echinoderm microtubule associated protein like 1 | ||||||||||||||||||
| Synonyms | ELP79; EMAP; EMAPL; HuEMAP; | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Protein | ENSP00000262233 | ||||||||||||||||||
| InnateDB Gene | IDBG-19843 (EML1) | ||||||||||||||||||
| Protein Structure |
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| 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 (By similarity). {ECO:0000250}. | ||||||||||||||||||
| Subcellular Localization | Cytoplasm {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. 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 (By similarity). {ECO:0000250}. | ||||||||||||||||||
| Disease Associations | Note=Mutations in this gene are associated with atypical heterotopia, epilepsy and mental retardation. Patients present giant bilateral periventricular and ribbon-like subcortical heterotopia with polymicrogyria and agenesis of the corpus callosum. | ||||||||||||||||||
| Tissue Specificity | Ubiquitous; expressed in most tissues with the exception of thymus and peripheral blood lymphocytes. {ECO:0000269PubMed:10521658}. | ||||||||||||||||||
| Comments | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||||||||||||
| PDB ID | |||||||||||||||||||
| InterPro |
IPR001680
WD40 repeat IPR005108 HELP IPR011047 Quinonprotein alcohol dehydrogenase-like superfamily IPR017986 WD40-repeat-containing domain |
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| PFAM |
PF00400
PF03451 |
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| PRINTS | |||||||||||||||||||
| PIRSF | |||||||||||||||||||
| SMART |
SM00320
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| TIGRFAMs | |||||||||||||||||||
| Post-translational Modifications | |||||||||||||||||||
| Modification | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | O00423 | ||||||||||||||||||
| PhosphoSite | PhosphoSite-O00423 | ||||||||||||||||||
| TrEMBL | G3V500 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 2009 | ||||||||||||||||||
| UniGene | Hs.608227 | ||||||||||||||||||
| RefSeq | NP_004425 | ||||||||||||||||||
| HUGO | HGNC:3330 | ||||||||||||||||||
| OMIM | 602033 | ||||||||||||||||||
| CCDS | CCDS32155 | ||||||||||||||||||
| HPRD | 03613 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AJ420603 AJ428183 AJ428184 AJ428185 AJ428186 AJ428187 AJ428188 AJ428189 AJ428190 AJ428191 AJ428192 AJ428193 AJ428194 AJ428195 AJ428196 AJ428197 AJ428198 AJ428199 AJ428200 AJ496644 AJ496645 AL133368 AL136000 BC032541 BC033043 BX247979 U97018 | ||||||||||||||||||
| GenPept | AAB57824 AAH32541 AAH33043 CAD12600 CAD62313 | ||||||||||||||||||