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Q05BC3

- EMAL1_MOUSE

UniProt

Q05BC3 - EMAL1_MOUSE

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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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ05BC3.
CleanExiMM_EML1.
ExpressionAtlasiQ05BC3. baseline and differential.
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 175-814.
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.
InParanoidiQ05BC3.
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

        10         20         30         40         50
MEDGFSSYSS LYDTSSLLQF CNDDSASAAS SMEVSDRIAS LEQRVQMQED
60 70 80 90 100
DIQLLKSALA DVVRRLNITE EQQAVLNRKG PTKARPLGQT LPLRTTVNNG
110 120 130 140 150
TVLPKKPSAS LPAPSGARKE VVVPVTKSIN RTSSSERVSP GGRRESSGDS
160 170 180 190 200
KGSRNRTGST SSSSSGKKNS ESKPKEPAFS PEEGYVKMFL RGRPVTMYMP
210 220 230 240 250
KDQVDSYSLE AKAELPTKRL KLEWVYGYRG RDCRNNLYLL PTGETVYFIA
260 270 280 290 300
SVVVLYNVEE QLQRHYAGHN DDVKCLAVHP DRITIATGQV AGTSKDGKQL
310 320 330 340 350
PPHVRIWDSV TLNTLHVIGI GFFDRAVTCI AFSKSNGGGH LCAVDDSNDH
360 370 380 390 400
VLSVWDWQKE ERLADVKCSN EAVFAADFHP TDTNIIVTCG KSHLYFWTLE
410 420 430 440 450
GNSLNKKQGL FEKQEKPKFV LCVTFSENGD TITGDSSGNI LVWGKGTNRI
460 470 480 490 500
SYAVQGAHEG GIFALCMLRD GTLVSGGGKD RRLISWNGNY QKLHKAEIPE
510 520 530 540 550
QFGPIRTVAE GKGNVILIGT TRNFVLQGTL SGDFTPITQG HTDELWGLAI
560 570 580 590 600
HASKPQFLTC GHDKHATLWD AVGHRPVWDK IIEDPAQSSG FHPSGSVVAV
610 620 630 640 650
GTLTGRWFVF DTETKDLVTV HTDGNEQLSV MRYSPDGNFL AIGSHDNCIY
660 670 680 690 700
IYGVTDNGRK YTRVGKCSGH SSFITHLDWS VNSQFLVSNS GDYEILYWVP
710 720 730 740 750
SACKQVVSVE TTRDIEWATY TCTLGFHVFG VWPEGSDGTD INAVCRAHER
760 770 780 790 800
KLLCTGDDFG KVHLFSYPCS QFRAPSHIYS GHSSHVTNVD FLCEDSHLIS
810
TGGKDTSIMQ WRVI
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 175-814.
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.
InParanoidi Q05BC3.
OMAi FRAPSHV.
OrthoDBi EOG7XWPMW.
PhylomeDBi Q05BC3.
TreeFami TF317832.

Miscellaneous databases

NextBioi 327362.
PROi Q05BC3.
SOURCEi Search...

Gene expression databases

Bgeei Q05BC3.
CleanExi MM_EML1.
ExpressionAtlasi Q05BC3. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 65 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