SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q05BC3

- EMAL1_MOUSE

UniProt

Q05BC3 - EMAL1_MOUSE

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

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.

GO - Biological processi

  1. hematopoietic progenitor cell differentiation Source: MGI
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. Cytoplasmperinuclear region. Cytoplasmcytoskeleton
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. cytoplasm Source: UniProtKB-KW
  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.

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.

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.

Gene expression databases

ArrayExpressiQ05BC3.
BgeeiQ05BC3.
CleanExiMM_EML1.
GenevestigatoriQ05BC3.

Interactioni

Subunit structurei

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

Structurei

3D structure databases

ProteinModelPortaliQ05BC3.
SMRiQ05BC3. Positions 209-791.

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 EMLs By 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).

Sequence similaritiesi

Belongs to the WD repeat EMAP family.
Contains 11 WD repeats.

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3131Missing in isoform 2. VSP_024477Add
BLAST
Alternative sequencei181 – 1811P → PALQSPKPQGKRRVTHCK in isoform 3. VSP_024478

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti113 – 1131A → S in AAI25290. 1 Publication
Sequence conflicti669 – 6691G → C in AAH59839. 1 Publication

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

« 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: September 3, 2014
This is version 63 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

Similar proteinsi