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Protein

Echinoderm microtubule-associated protein-like 1

Gene

Eml1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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

  • microtubule binding Source: UniProtKB
  • tubulin binding Source: UniProtKB

GO - Biological processi

  • brain development Source: UniProtKB
  • hematopoietic progenitor cell differentiation Source: MGI
  • microtubule cytoskeleton organization Source: UniProtKB
  • mitotic spindle organization Source: UniProtKB
  • 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 12

Organism-specific databases

MGIiMGI:1915769 Eml1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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)DescriptionActionsGraphical viewLength
Mutagenesisi242T → A: Impairs tubulin binding. 1 Publication1

Keywords - Diseasei

Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002843861 – 814Echinoderm microtubule-associated protein-like 1Add BLAST814

Proteomic databases

MaxQBiQ05BC3
PaxDbiQ05BC3
PRIDEiQ05BC3

PTM databases

iPTMnetiQ05BC3
PhosphoSitePlusiQ05BC3

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

BgeeiENSMUSG00000058070 Expressed in 187 organ(s), highest expression level in dorsal root ganglion
CleanExiMM_EML1
ExpressionAtlasiQ05BC3 baseline and differential
GenevisibleiQ05BC3 MM

Interactioni

Subunit structurei

Binds unpolymerized tubulins via its WD repeat region (By similarity). Binds repolymerizing microtubules (PubMed:24859200).By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi212902, 1 interactor
IntActiQ05BC3, 1 interactor
STRINGi10090.ENSMUSP00000105486

Structurei

3D structure databases

ProteinModelPortaliQ05BC3
SMRiQ05BC3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati260 – 309WD 1Add BLAST50
Repeati314 – 357WD 2Add BLAST44
Repeati362 – 399WD 3Add BLAST38
Repeati408 – 445WD 4Add BLAST38
Repeati449 – 488WD 5Add BLAST40
Repeati492 – 529WD 6Add BLAST38
Repeati534 – 571WD 7Add BLAST38
Repeati577 – 612WD 8Add BLAST36
Repeati616 – 654WD 9Add BLAST39
Repeati663 – 700WD 10Add BLAST38
Repeati708 – 767WD 11Add BLAST60
Repeati774 – 813WD 12Add BLAST40

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni175 – 814Tandem atypical propeller in EMLsBy similarityAdd BLAST640

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi159 – 165Poly-Ser7

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.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410ISA0 Eukaryota
COG2319 LUCA
GeneTreeiENSGT00550000074369
HOGENOMiHOG000294061
HOVERGENiHBG051470
InParanoidiQ05BC3
KOiK18595
OMAiRKYTRVG
OrthoDBiEOG091G04Z4
PhylomeDBiQ05BC3
TreeFamiTF317832

Family and domain databases

Gene3Di2.130.10.10, 3 hits
InterProiView protein in InterPro
IPR005108 HELP
IPR011047 Quinoprotein_ADH-like_supfam
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
PfamiView protein in Pfam
PF03451 HELP, 1 hit
PF00400 WD40, 5 hits
SMARTiView protein in SMART
SM00320 WD40, 10 hits
SUPFAMiSSF50998 SSF50998, 1 hit
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 3 hits
PS50294 WD_REPEATS_REGION, 2 hits

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D3Z4J9D3Z4J9_MOUSE
Echinoderm microtubule-associated p...
Eml1
800Annotation score:
D6RII3D6RII3_MOUSE
Echinoderm microtubule-associated p...
Eml1
699Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti113A → S in AAI25290 (PubMed:15489334).Curated1
Sequence conflicti669G → C in AAH59839 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0244771 – 31Missing in isoform 2. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_024478181P → PALQSPKPQGKRRVTHCK in isoform 3. 1 Publication1

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
XP_017170659.1, XM_017315170.1 [Q05BC3-3]
XP_017170661.1, XM_017315172.1 [Q05BC3-2]
UniGeneiMm.236645

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

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
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
XP_017170659.1, XM_017315170.1 [Q05BC3-3]
XP_017170661.1, XM_017315172.1 [Q05BC3-2]
UniGeneiMm.236645

3D structure databases

ProteinModelPortaliQ05BC3
SMRiQ05BC3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi212902, 1 interactor
IntActiQ05BC3, 1 interactor
STRINGi10090.ENSMUSP00000105486

PTM databases

iPTMnetiQ05BC3
PhosphoSitePlusiQ05BC3

Proteomic databases

MaxQBiQ05BC3
PaxDbiQ05BC3
PRIDEiQ05BC3

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2009
MGIiMGI:1915769 Eml1

Phylogenomic databases

eggNOGiENOG410ISA0 Eukaryota
COG2319 LUCA
GeneTreeiENSGT00550000074369
HOGENOMiHOG000294061
HOVERGENiHBG051470
InParanoidiQ05BC3
KOiK18595
OMAiRKYTRVG
OrthoDBiEOG091G04Z4
PhylomeDBiQ05BC3
TreeFamiTF317832

Miscellaneous databases

PROiPR:Q05BC3
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000058070 Expressed in 187 organ(s), highest expression level in dorsal root ganglion
CleanExiMM_EML1
ExpressionAtlasiQ05BC3 baseline and differential
GenevisibleiQ05BC3 MM

Family and domain databases

Gene3Di2.130.10.10, 3 hits
InterProiView protein in InterPro
IPR005108 HELP
IPR011047 Quinoprotein_ADH-like_supfam
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
PfamiView protein in Pfam
PF03451 HELP, 1 hit
PF00400 WD40, 5 hits
SMARTiView protein in SMART
SM00320 WD40, 10 hits
SUPFAMiSSF50998 SSF50998, 1 hit
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 3 hits
PS50294 WD_REPEATS_REGION, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiEMAL1_MOUSE
AccessioniPrimary (citable) accession number: Q05BC3
Secondary accession number(s): Q05AF8, Q0P5V3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: November 14, 2006
Last modified: September 12, 2018
This is version 86 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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