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Protein

Echinoderm microtubule-associated protein-like 1

Gene

EML1

Organism
Homo sapiens (Human)
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.By similarity

GO - Molecular functioni

  • calcium ion binding Source: UniProtKB
  • microtubule binding Source: UniProtKB
  • tubulin binding Source: UniProtKB

GO - Biological processi

Enzyme and pathway databases

SignaLinkiO00423

Names & Taxonomyi

Protein namesi
Recommended name:
Echinoderm microtubule-associated protein-like 1
Short name:
EMAP-1
Short name:
HuEMAP-1
Gene namesi
Name:EML1
Synonyms:EMAP1, EMAPL, EMAPL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000066629.16
HGNCiHGNC:3330 EML1
MIMi602033 gene
neXtProtiNX_O00423

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

Band heterotopia (BH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA brain malformation of the lissencephaly spectrum, resulting from disordered neuronal migration and characterized by bands of gray matter interposed in the central white matter. Disease features include severe developmental delay with intellectual disability, enlarged head circumference, periventricular and ribbon-like subcortical heterotopia, polymicrogyria and agenesis of the corpus callosum.
See also OMIM:600348
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071075225W → R in BH. 1 PublicationCorresponds to variant dbSNP:rs886037937EnsemblClinVar.1
Natural variantiVAR_071076243T → A in BH; decreased microtubule-binding. 1 PublicationCorresponds to variant dbSNP:rs886037936EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi59 – 61LAD → AAA: No effect on tubulin binding. 1 Publication3
Mutagenesisi192R → S: Abolishes tubulin binding; when associated with S-194; A-547; T-626; S-627; A-646 and A-786. 1 Publication1
Mutagenesisi194R → S: Abolishes tubulin binding; when associated with S-192; A-547; T-626; S-627; A-646 and A-786. 1 Publication1
Mutagenesisi547W → A: Abolishes tubulin binding; when associated with S-192; S-194; T-626; S-627; A-646 and A-786. 1 Publication1
Mutagenesisi626N → T: Abolishes tubulin binding; when associated with S-192; S-194; A-547; S-627; A-646 and A-786. 1 Publication1
Mutagenesisi627E → S: Abolishes tubulin binding; when associated with S-192; S-194; A-547; T-626; A-646 and A-786. 1 Publication1
Mutagenesisi646H → A: Abolishes tubulin binding; when associated with S-192; S-194; A-547; T-626; S-627 and A-786. 1 Publication1
Mutagenesisi786H → A: Abolishes tubulin binding; when associated with S-192; S-194; A-547; T-626; S-627 and A-646. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Lissencephaly, Mental retardation

Organism-specific databases

DisGeNETi2009
MalaCardsiEML1
MIMi600348 phenotype
OpenTargetsiENSG00000066629
Orphaneti99796 Subcortical band heterotopia
PharmGKBiPA27767

Polymorphism and mutation databases

BioMutaiEML1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000509611 – 815Echinoderm microtubule-associated protein-like 1Add BLAST815

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei113PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO00423
MaxQBiO00423
PaxDbiO00423
PeptideAtlasiO00423
PRIDEiO00423
ProteomicsDBi47880
47881 [O00423-3]

PTM databases

iPTMnetiO00423
PhosphoSitePlusiO00423

Expressioni

Tissue specificityi

Ubiquitous; expressed in most tissues with the exception of thymus and peripheral blood lymphocytes.1 Publication

Gene expression databases

BgeeiENSG00000066629 Expressed in 217 organ(s), highest expression level in corpus callosum
CleanExiHS_EML1
ExpressionAtlasiO00423 baseline and differential
GenevisibleiO00423 HS

Organism-specific databases

HPAiCAB033137
HPA049105

Interactioni

Subunit structurei

Binds repolymerizing microtubules (PubMed:24859200). Binds unpolymerized tubulins via its WD repeat region (PubMed:24706829).2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ISG20L2Q9H9L33EBI-751327,EBI-751335

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108324, 13 interactors
IntActiO00423, 3 interactors
STRINGi9606.ENSP00000334314

Structurei

Secondary structure

1815
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO00423
SMRiO00423
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati261 – 310WD 1Add BLAST50
Repeati315 – 358WD 2Add BLAST44
Repeati363 – 400WD 3Add BLAST38
Repeati409 – 446WD 4Add BLAST38
Repeati450 – 489WD 5Add BLAST40
Repeati493 – 530WD 6Add BLAST38
Repeati535 – 572WD 7Add BLAST38
Repeati578 – 613WD 8Add BLAST36
Repeati617 – 655WD 9Add BLAST39
Repeati664 – 701WD 10Add BLAST38
Repeati709 – 768WD 11Add BLAST60
Repeati775 – 814WD 12Add BLAST40

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni176 – 815Tandem atypical propeller in EMLsAdd BLAST640

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi160 – 166Poly-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.1 Publication

Sequence similaritiesi

Belongs to the WD repeat EMAP family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG2106 Eukaryota
ENOG410XNTQ LUCA
GeneTreeiENSGT00550000074369
HOGENOMiHOG000294061
HOVERGENiHBG051470
InParanoidiO00423
KOiK18595
OMAiWIPSACK
OrthoDBiEOG091G04Z4
PhylomeDBiO00423
TreeFamiTF317832

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR005108 HELP
IPR011047 Quinoprotein_ADH-like_supfam
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF03451 HELP, 1 hit
PF00400 WD40, 4 hits
SMARTiView protein in SMART
SM00320 WD40, 10 hits
SUPFAMiSSF50978 SSF50978, 1 hit
SSF50998 SSF50998, 1 hit
PROSITEiView protein in PROSITE
PS50082 WD_REPEATS_2, 3 hits
PS50294 WD_REPEATS_REGION, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O00423-1) [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 SMEVTDRIAS LEQRVQMQED
60 70 80 90 100
DIQLLKSALA DVVRRLNITE EQQAVLNRKG PTKARPLMQT LPLRTTVNNG
110 120 130 140 150
TVLPKKPTGS LPSPSGVRKE TAVPATKSNI KRTSSSERVS PGGRRESNGD
160 170 180 190 200
SRGNRNRTGS TSSSSSGKKN SESKPKEPVF SAEEGYVKMF LRGRPVTMYM
210 220 230 240 250
PKDQVDSYSL EAKVELPTKR LKLEWVYGYR GRDCRNNLYL LPTGETVYFI
260 270 280 290 300
ASVVVLYNVE EQLQRHYAGH NDDVKCLAVH PDRITIATGQ VAGTSKDGKQ
310 320 330 340 350
LPPHVRIWDS VTLNTLHVIG IGFFDRAVTC IAFSKSNGGT NLCAVDDSND
360 370 380 390 400
HVLSVWDWQK EEKLADVKCS NEAVFAADFH PTDTNIIVTC GKSHLYFWTL
410 420 430 440 450
EGSSLNKKQG LFEKQEKPKF VLCVTFSENG DTITGDSSGN ILVWGKGTNR
460 470 480 490 500
ISYAVQGAHE GGIFALCMLR DGTLVSGGGK DRKLISWSGN YQKLRKTEIP
510 520 530 540 550
EQFGPIRTVA EGKGDVILIG TTRNFVLQGT LSGDFTPITQ GHTDELWGLA
560 570 580 590 600
IHASKSQFLT CGHDKHATLW DAVGHRPVWD KIIEDPAQSS GFHPSGSVVA
610 620 630 640 650
VGTLTGRWFV FDTETKDLVT VHTDGNEQLS VMRYSPDGNF LAIGSHDNCI
660 670 680 690 700
YIYGVSDNGR KYTRVGKCSG HSSFITHLDW SVNSQFLVSN SGDYEILYWV
710 720 730 740 750
PSACKQVVSV ETTRDIEWAT YTCTLGFHVF GVWPEGSDGT DINAVCRAHE
760 770 780 790 800
KKLLSTGDDF GKVHLFSYPC SQFRAPSHIY GGHSSHVTNV DFLCEDSHLI
810
STGGKDTSIM QWRVI
Length:815
Mass (Da):89,861
Last modified:July 28, 2009 - v3
Checksum:iA1476F75F3537205
GO
Isoform 3 (identifier: O00423-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     127-127: K → KRLNRSVSLLNACKLNRSTP

Note: No experimental confirmation available.
Show »
Length:834
Mass (Da):91,985
Checksum:i66B7AE5D761B3AA3
GO

Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W717F8W717_HUMAN
Echinoderm microtubule-associated p...
EML1
803Annotation score:
G3V3N9G3V3N9_HUMAN
Echinoderm microtubule-associated p...
EML1
379Annotation score:
G3V500G3V500_HUMAN
Echinoderm microtubule-associated p...
EML1
285Annotation score:
G3V4H6G3V4H6_HUMAN
Echinoderm microtubule-associated p...
EML1
128Annotation score:
G3V4U5G3V4U5_HUMAN
Echinoderm microtubule-associated p...
EML1
85Annotation score:
G3V5C8G3V5C8_HUMAN
Echinoderm microtubule-associated p...
EML1
92Annotation score:
G3V538G3V538_HUMAN
Echinoderm microtubule-associated p...
EML1
156Annotation score:
G3V3J1G3V3J1_HUMAN
Echinoderm microtubule-associated p...
EML1
85Annotation score:
G3V497G3V497_HUMAN
Echinoderm microtubule-associated p...
EML1
107Annotation score:
H0YJY3H0YJY3_HUMAN
Echinoderm microtubule-associated p...
EML1
182Annotation score:
There are more potential isoformsShow all

Sequence cautioni

The sequence AAB57824 differs from that shown. Reason: Frameshift at positions 168, 392, 405, 414 and 420.Curated
The sequence CAD62313 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti93 – 95LRT → FRS in AAB57824 (PubMed:9226380).Curated3
Sequence conflicti106K → I in AAB57824 (PubMed:9226380).Curated1
Sequence conflicti117V → F in AAB57824 (PubMed:9226380).Curated1
Sequence conflicti120E → D in AAB57824 (PubMed:9226380).Curated1
Sequence conflicti189M → L in AAB57824 (PubMed:9226380).Curated1
Sequence conflicti464 – 465FA → SP in AAB57824 (PubMed:9226380).Curated2
Sequence conflicti464 – 465FA → SP in CAD12600 (Ref. 2) Curated2
Sequence conflicti499 – 500IP → VS in CAD62313 (Ref. 4) Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071075225W → R in BH. 1 PublicationCorresponds to variant dbSNP:rs886037937EnsemblClinVar.1
Natural variantiVAR_071076243T → A in BH; decreased microtubule-binding. 1 PublicationCorresponds to variant dbSNP:rs886037936EnsemblClinVar.1
Natural variantiVAR_031720377A → V. Corresponds to variant dbSNP:rs34198557Ensembl.1
Natural variantiVAR_031721552H → N1 PublicationCorresponds to variant dbSNP:rs17853154Ensembl.1
Natural variantiVAR_031722556S → P3 PublicationsCorresponds to variant dbSNP:rs2250718Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_024476127K → KRLNRSVSLLNACKLNRSTP in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U97018 mRNA Translation: AAB57824.1 Frameshift.
AJ420603
, AJ428183, AJ428184, AJ428185, AJ428189, AJ428191, AJ428193, AJ428195, AJ428197, AJ496645, AJ496644, AJ428200, AJ428199, AJ428198, AJ428196, AJ428194, AJ428192, AJ428190, AJ428188, AJ428187, AJ428186 Genomic DNA Translation: CAD12600.2
BC032541 mRNA Translation: AAH32541.1
BC033043 mRNA Translation: AAH33043.1
BX247979 mRNA Translation: CAD62313.1 Different initiation.
CCDSiCCDS32154.1 [O00423-3]
CCDS32155.1 [O00423-1]
RefSeqiNP_001008707.1, NM_001008707.1 [O00423-3]
NP_004425.2, NM_004434.2 [O00423-1]
UniGeneiHs.12451

Genome annotation databases

EnsembliENST00000262233; ENSP00000262233; ENSG00000066629 [O00423-1]
ENST00000334192; ENSP00000334314; ENSG00000066629 [O00423-3]
GeneIDi2009
KEGGihsa:2009
UCSCiuc001ygr.4 human [O00423-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U97018 mRNA Translation: AAB57824.1 Frameshift.
AJ420603
, AJ428183, AJ428184, AJ428185, AJ428189, AJ428191, AJ428193, AJ428195, AJ428197, AJ496645, AJ496644, AJ428200, AJ428199, AJ428198, AJ428196, AJ428194, AJ428192, AJ428190, AJ428188, AJ428187, AJ428186 Genomic DNA Translation: CAD12600.2
BC032541 mRNA Translation: AAH32541.1
BC033043 mRNA Translation: AAH33043.1
BX247979 mRNA Translation: CAD62313.1 Different initiation.
CCDSiCCDS32154.1 [O00423-3]
CCDS32155.1 [O00423-1]
RefSeqiNP_001008707.1, NM_001008707.1 [O00423-3]
NP_004425.2, NM_004434.2 [O00423-1]
UniGeneiHs.12451

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4CI8X-ray2.60A/B167-815[»]
ProteinModelPortaliO00423
SMRiO00423
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108324, 13 interactors
IntActiO00423, 3 interactors
STRINGi9606.ENSP00000334314

PTM databases

iPTMnetiO00423
PhosphoSitePlusiO00423

Polymorphism and mutation databases

BioMutaiEML1

Proteomic databases

EPDiO00423
MaxQBiO00423
PaxDbiO00423
PeptideAtlasiO00423
PRIDEiO00423
ProteomicsDBi47880
47881 [O00423-3]

Protocols and materials databases

DNASUi2009
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262233; ENSP00000262233; ENSG00000066629 [O00423-1]
ENST00000334192; ENSP00000334314; ENSG00000066629 [O00423-3]
GeneIDi2009
KEGGihsa:2009
UCSCiuc001ygr.4 human [O00423-1]

Organism-specific databases

CTDi2009
DisGeNETi2009
EuPathDBiHostDB:ENSG00000066629.16
GeneCardsiEML1
H-InvDBiHIX0011963
HGNCiHGNC:3330 EML1
HPAiCAB033137
HPA049105
MalaCardsiEML1
MIMi600348 phenotype
602033 gene
neXtProtiNX_O00423
OpenTargetsiENSG00000066629
Orphaneti99796 Subcortical band heterotopia
PharmGKBiPA27767
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2106 Eukaryota
ENOG410XNTQ LUCA
GeneTreeiENSGT00550000074369
HOGENOMiHOG000294061
HOVERGENiHBG051470
InParanoidiO00423
KOiK18595
OMAiWIPSACK
OrthoDBiEOG091G04Z4
PhylomeDBiO00423
TreeFamiTF317832

Enzyme and pathway databases

SignaLinkiO00423

Miscellaneous databases

ChiTaRSiEML1 human
GeneWikiiEML1
GenomeRNAii2009
PROiPR:O00423
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000066629 Expressed in 217 organ(s), highest expression level in corpus callosum
CleanExiHS_EML1
ExpressionAtlasiO00423 baseline and differential
GenevisibleiO00423 HS

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR005108 HELP
IPR011047 Quinoprotein_ADH-like_supfam
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF03451 HELP, 1 hit
PF00400 WD40, 4 hits
SMARTiView protein in SMART
SM00320 WD40, 10 hits
SUPFAMiSSF50978 SSF50978, 1 hit
SSF50998 SSF50998, 1 hit
PROSITEiView protein in PROSITE
PS50082 WD_REPEATS_2, 3 hits
PS50294 WD_REPEATS_REGION, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiEMAL1_HUMAN
AccessioniPrimary (citable) accession number: O00423
Secondary accession number(s): Q86U15
, Q8N536, Q8N5C4, Q8WWL6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: July 28, 2009
Last modified: November 7, 2018
This is version 166 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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