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Q05BC3

- EMAL1_MOUSE

UniProt

Q05BC3 - EMAL1_MOUSE

Protein

Echinoderm microtubule-associated protein-like 1

Gene

Eml1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 64 (01 Oct 2014)
      Sequence version 1 (14 Nov 2006)
      Previous versions | rss
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    Functioni

    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.1 Publication

    GO - Molecular functioni

    1. microtubule binding Source: UniProtKB
    2. tubulin binding Source: UniProtKB

    GO - Biological processi

    1. brain development Source: UniProtKB
    2. hematopoietic progenitor cell differentiation Source: MGI
    3. microtubule cytoskeleton organization Source: UniProtKB
    4. mitotic spindle organization Source: UniProtKB
    5. neuroblast proliferation Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Echinoderm microtubule-associated protein-like 1
    Short name:
    EMAP-1
    Gene namesi
    Name:Eml1
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 12

    Organism-specific databases

    MGIiMGI:1915769. Eml1.

    Subcellular locationi

    Cytoplasm 1 Publication. Cytoplasmperinuclear region 1 Publication. Cytoplasmcytoskeleton 1 Publication
    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.

    GO - Cellular componenti

    1. cytosol Source: UniProtKB
    2. microtubule Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton, Microtubule

    Pathology & Biotechi

    Involvement in diseasei

    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.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi242 – 2421T → A: Impairs tubulin binding. 1 Publication

    Keywords - Diseasei

    Disease mutation

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 814814Echinoderm microtubule-associated protein-like 1PRO_0000284386Add
    BLAST

    Proteomic databases

    MaxQBiQ05BC3.
    PaxDbiQ05BC3.
    PRIDEiQ05BC3.

    PTM databases

    PhosphoSiteiQ05BC3.

    Expressioni

    Tissue specificityi

    Detected in adult brain cortex, hippocampus and thalamus.1 Publication

    Developmental stagei

    Detected from 13.5 dpc to the first day after birth in cortical neuron progenitor cells in the ventricular zone and in postmitotic neurons in the cortical plate.1 Publication

    Gene expression databases

    ArrayExpressiQ05BC3.
    BgeeiQ05BC3.
    CleanExiMM_EML1.
    GenevestigatoriQ05BC3.

    Interactioni

    Subunit structurei

    Binds unpolymerized tubulins via its WD repeat region By similarity. Binds repolymerizing microtubules.By similarity1 Publication

    Structurei

    3D structure databases

    ProteinModelPortaliQ05BC3.
    SMRiQ05BC3. Positions 209-791.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati268 – 31750WD 1Add
    BLAST
    Repeati322 – 36544WD 2Add
    BLAST
    Repeati368 – 40740WD 3Add
    BLAST
    Repeati415 – 45339WD 4Add
    BLAST
    Repeati457 – 49640WD 5Add
    BLAST
    Repeati540 – 57940WD 6Add
    BLAST
    Repeati581 – 62040WD 7Add
    BLAST
    Repeati623 – 66240WD 8Add
    BLAST
    Repeati669 – 70840WD 9Add
    BLAST
    Repeati736 – 77540WD 10Add
    BLAST
    Repeati781 – 81434WD 11Add
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni175 – 814640Tandem atypical propeller in EMLsBy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi159 – 1657Poly-Ser

    Domaini

    Contains a tandem atypical propeller in EMLs (TAPE) domain. The N-terminal beta-propeller is formed by canonical WD repeats; in contrast, the second beta-propeller contains one blade that is formed by discontinuous parts of the polypeptide chain (By similarity).By similarity

    Sequence similaritiesi

    Belongs to the WD repeat EMAP family.Curated
    Contains 11 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiCOG2319.
    GeneTreeiENSGT00550000074369.
    HOGENOMiHOG000294061.
    HOVERGENiHBG051470.
    OMAiFRAPSHV.
    OrthoDBiEOG7XWPMW.
    PhylomeDBiQ05BC3.
    TreeFamiTF317832.

    Family and domain databases

    Gene3Di2.130.10.10. 3 hits.
    InterProiIPR005108. HELP.
    IPR011047. Quinonprotein_ADH-like_supfam.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF03451. HELP. 1 hit.
    PF00400. WD40. 5 hits.
    [Graphical view]
    SMARTiSM00320. WD40. 10 hits.
    [Graphical view]
    SUPFAMiSSF50998. SSF50998. 1 hit.
    PROSITEiPS00678. WD_REPEATS_1. 1 hit.
    PS50082. WD_REPEATS_2. 3 hits.
    PS50294. WD_REPEATS_REGION. 2 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q05BC3-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MEDGFSSYSS LYDTSSLLQF CNDDSASAAS SMEVSDRIAS LEQRVQMQED    50
    DIQLLKSALA DVVRRLNITE EQQAVLNRKG PTKARPLGQT LPLRTTVNNG 100
    TVLPKKPSAS LPAPSGARKE VVVPVTKSIN RTSSSERVSP GGRRESSGDS 150
    KGSRNRTGST SSSSSGKKNS ESKPKEPAFS PEEGYVKMFL RGRPVTMYMP 200
    KDQVDSYSLE AKAELPTKRL KLEWVYGYRG RDCRNNLYLL PTGETVYFIA 250
    SVVVLYNVEE QLQRHYAGHN DDVKCLAVHP DRITIATGQV AGTSKDGKQL 300
    PPHVRIWDSV TLNTLHVIGI GFFDRAVTCI AFSKSNGGGH LCAVDDSNDH 350
    VLSVWDWQKE ERLADVKCSN EAVFAADFHP TDTNIIVTCG KSHLYFWTLE 400
    GNSLNKKQGL FEKQEKPKFV LCVTFSENGD TITGDSSGNI LVWGKGTNRI 450
    SYAVQGAHEG GIFALCMLRD GTLVSGGGKD RRLISWNGNY QKLHKAEIPE 500
    QFGPIRTVAE GKGNVILIGT TRNFVLQGTL SGDFTPITQG HTDELWGLAI 550
    HASKPQFLTC GHDKHATLWD AVGHRPVWDK IIEDPAQSSG FHPSGSVVAV 600
    GTLTGRWFVF DTETKDLVTV HTDGNEQLSV MRYSPDGNFL AIGSHDNCIY 650
    IYGVTDNGRK YTRVGKCSGH SSFITHLDWS VNSQFLVSNS GDYEILYWVP 700
    SACKQVVSVE TTRDIEWATY TCTLGFHVFG VWPEGSDGTD INAVCRAHER 750
    KLLCTGDDFG KVHLFSYPCS QFRAPSHIYS GHSSHVTNVD FLCEDSHLIS 800
    TGGKDTSIMQ WRVI 814
    Length:814
    Mass (Da):89,680
    Last modified:November 14, 2006 - v1
    Checksum:i9881D29F4C2899D5
    GO
    Isoform 2 (identifier: Q05BC3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-31: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:783
    Mass (Da):86,411
    Checksum:i47F0B22EA6BE7E2E
    GO
    Isoform 3 (identifier: Q05BC3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         181-181: P → PALQSPKPQGKRRVTHCK

    Note: No experimental confirmation available.

    Show »
    Length:831
    Mass (Da):91,596
    Checksum:i8DA3147067A18828
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti113 – 1131A → S in AAI25290. (PubMed:15489334)Curated
    Sequence conflicti669 – 6691G → C in AAH59839. (PubMed:15489334)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3131Missing in isoform 2. 1 PublicationVSP_024477Add
    BLAST
    Alternative sequencei181 – 1811P → PALQSPKPQGKRRVTHCK in isoform 3. 1 PublicationVSP_024478

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC053094 mRNA. Translation: AAH53094.2.
    BC059839 mRNA. Translation: AAH59839.1.
    BC079582 mRNA. Translation: AAH79582.1.
    BC125289 mRNA. Translation: AAI25290.1.
    CCDSiCCDS36555.1. [Q05BC3-1]
    CCDS36556.1. [Q05BC3-2]
    RefSeqiNP_001036800.1. NM_001043335.1. [Q05BC3-1]
    NP_001036801.1. NM_001043336.2. [Q05BC3-2]
    NP_001273275.1. NM_001286346.1.
    NP_001273276.1. NM_001286347.1.
    UniGeneiMm.236645.

    Genome annotation databases

    EnsembliENSMUST00000054955; ENSMUSP00000057209; ENSMUSG00000058070. [Q05BC3-2]
    ENSMUST00000109860; ENSMUSP00000105486; ENSMUSG00000058070. [Q05BC3-1]
    GeneIDi68519.
    KEGGimmu:68519.
    UCSCiuc007ozq.1. mouse. [Q05BC3-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC053094 mRNA. Translation: AAH53094.2 .
    BC059839 mRNA. Translation: AAH59839.1 .
    BC079582 mRNA. Translation: AAH79582.1 .
    BC125289 mRNA. Translation: AAI25290.1 .
    CCDSi CCDS36555.1. [Q05BC3-1 ]
    CCDS36556.1. [Q05BC3-2 ]
    RefSeqi NP_001036800.1. NM_001043335.1. [Q05BC3-1 ]
    NP_001036801.1. NM_001043336.2. [Q05BC3-2 ]
    NP_001273275.1. NM_001286346.1.
    NP_001273276.1. NM_001286347.1.
    UniGenei Mm.236645.

    3D structure databases

    ProteinModelPortali Q05BC3.
    SMRi Q05BC3. Positions 209-791.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q05BC3.

    Proteomic databases

    MaxQBi Q05BC3.
    PaxDbi Q05BC3.
    PRIDEi Q05BC3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000054955 ; ENSMUSP00000057209 ; ENSMUSG00000058070 . [Q05BC3-2 ]
    ENSMUST00000109860 ; ENSMUSP00000105486 ; ENSMUSG00000058070 . [Q05BC3-1 ]
    GeneIDi 68519.
    KEGGi mmu:68519.
    UCSCi uc007ozq.1. mouse. [Q05BC3-1 ]

    Organism-specific databases

    CTDi 2009.
    MGIi MGI:1915769. Eml1.

    Phylogenomic databases

    eggNOGi COG2319.
    GeneTreei ENSGT00550000074369.
    HOGENOMi HOG000294061.
    HOVERGENi HBG051470.
    OMAi FRAPSHV.
    OrthoDBi EOG7XWPMW.
    PhylomeDBi Q05BC3.
    TreeFami TF317832.

    Miscellaneous databases

    NextBioi 327362.
    PROi Q05BC3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q05BC3.
    Bgeei Q05BC3.
    CleanExi MM_EML1.
    Genevestigatori Q05BC3.

    Family and domain databases

    Gene3Di 2.130.10.10. 3 hits.
    InterProi IPR005108. HELP.
    IPR011047. Quinonprotein_ADH-like_supfam.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF03451. HELP. 1 hit.
    PF00400. WD40. 5 hits.
    [Graphical view ]
    SMARTi SM00320. WD40. 10 hits.
    [Graphical view ]
    SUPFAMi SSF50998. SSF50998. 1 hit.
    PROSITEi PS00678. WD_REPEATS_1. 1 hit.
    PS50082. WD_REPEATS_2. 3 hits.
    PS50294. WD_REPEATS_REGION. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
      Strain: C57BL/6.
      Tissue: Brain.
    2. Cited for: FUNCTION, ROLE IN DISEASE, DEVELOPMENTAL STAGE, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, MUTAGENESIS OF THR-242, SUBUNIT.

    Entry informationi

    Entry nameiEMAL1_MOUSE
    AccessioniPrimary (citable) accession number: Q05BC3
    Secondary accession number(s): Q05AF8, Q0P5V3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 17, 2007
    Last sequence update: November 14, 2006
    Last modified: October 1, 2014
    This is version 64 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3