UniProtKB - O00423 (EMAL1_HUMAN)
Echinoderm microtubule-associated protein-like 1
EML1
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 similarityGO - Molecular functioni
- calcium ion binding Source: UniProtKB
- microtubule binding Source: UniProtKB
- tubulin binding Source: UniProtKB
GO - Biological processi
- brain development Source: UniProtKB
- hematopoietic progenitor cell differentiation Source: Ensembl
- microtubule cytoskeleton organization Source: UniProtKB
- mitotic spindle organization Source: UniProtKB
- neuroblast proliferation Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | O00423 |
SignaLinki | O00423 |
Names & Taxonomyi
Protein namesi | Recommended name: Echinoderm microtubule-associated protein-like 1Short name: EMAP-1 Short name: HuEMAP-1 |
Gene namesi | Name:EML1 Synonyms:EMAP1, EMAPL, EMAPL1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3330, EML1 |
MIMi | 602033, gene |
neXtProti | NX_O00423 |
VEuPathDBi | HostDB:ENSG00000066629 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm By similarity
Cytoskeleton
- cytoskeleton 1 Publication
Other locations
- perinuclear region By similarity
Note: Detected in cytoplasmic punctae. Co-localizes with microtubules (PubMed:24859200). 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 (By similarity).By similarity1 Publication
Cytoskeleton
- microtubule Source: UniProtKB-KW
- microtubule associated complex Source: ProtInc
- mitotic spindle midzone Source: Ensembl
- mitotic spindle pole Source: Ensembl
Cytosol
- cytosol Source: UniProtKB
Other locations
- perinuclear region of cytoplasm Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cytoplasm, Cytoskeleton, MicrotubulePathology & Biotechi
Involvement in diseasei
Band heterotopia (BH)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071075 | 225 | W → R in BH. 1 PublicationCorresponds to variant dbSNP:rs886037937EnsemblClinVar. | 1 | |
Natural variantiVAR_071076 | 243 | T → A in BH; decreased microtubule-binding. 1 PublicationCorresponds to variant dbSNP:rs886037936EnsemblClinVar. | 1 | |
Natural variantiVAR_081119 | 523 – 815 | Missing in BH. 1 PublicationAdd BLAST | 293 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 59 – 61 | LAD → AAA: No effect on tubulin binding. 1 Publication | 3 | |
Mutagenesisi | 192 | R → S: Abolishes tubulin binding; when associated with S-194; A-547; T-626; S-627; A-646 and A-786. 1 Publication | 1 | |
Mutagenesisi | 194 | R → S: Abolishes tubulin binding; when associated with S-192; A-547; T-626; S-627; A-646 and A-786. 1 Publication | 1 | |
Mutagenesisi | 547 | W → A: Abolishes tubulin binding; when associated with S-192; S-194; T-626; S-627; A-646 and A-786. 1 Publication | 1 | |
Mutagenesisi | 626 | N → T: Abolishes tubulin binding; when associated with S-192; S-194; A-547; S-627; A-646 and A-786. 1 Publication | 1 | |
Mutagenesisi | 627 | E → S: Abolishes tubulin binding; when associated with S-192; S-194; A-547; T-626; A-646 and A-786. 1 Publication | 1 | |
Mutagenesisi | 646 | H → A: Abolishes tubulin binding; when associated with S-192; S-194; A-547; T-626; S-627 and A-786. 1 Publication | 1 | |
Mutagenesisi | 786 | H → A: Abolishes tubulin binding; when associated with S-192; S-194; A-547; T-626; S-627 and A-646. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Epilepsy, Lissencephaly, Mental retardationOrganism-specific databases
DisGeNETi | 2009 |
MalaCardsi | EML1 |
MIMi | 600348, phenotype |
OpenTargetsi | ENSG00000066629 |
Orphaneti | 99796, Subcortical band heterotopia |
PharmGKBi | PA27767 |
Miscellaneous databases
Pharosi | O00423, Tbio |
Genetic variation databases
BioMutai | EML1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000050961 | 1 – 815 | Echinoderm microtubule-associated protein-like 1Add BLAST | 815 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 113 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
CPTACi | CPTAC-1606 |
EPDi | O00423 |
jPOSTi | O00423 |
MassIVEi | O00423 |
MaxQBi | O00423 |
PaxDbi | O00423 |
PeptideAtlasi | O00423 |
PRIDEi | O00423 |
ProteomicsDBi | 47880 [O00423-1] 47881 [O00423-3] |
PTM databases
iPTMneti | O00423 |
PhosphoSitePlusi | O00423 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000066629, Expressed in cortical plate and 230 other tissues |
ExpressionAtlasi | O00423, baseline and differential |
Genevisiblei | O00423, HS |
Organism-specific databases
HPAi | ENSG00000066629, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
O00423
GO - Molecular functioni
- microtubule binding Source: UniProtKB
- tubulin binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 108324, 25 interactors |
IntActi | O00423, 16 interactors |
MINTi | O00423 |
STRINGi | 9606.ENSP00000334314 |
Miscellaneous databases
RNActi | O00423, protein |
Structurei
Secondary structure
3D structure databases
SMRi | O00423 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 261 – 310 | WD 1Add BLAST | 50 | |
Repeati | 315 – 358 | WD 2Add BLAST | 44 | |
Repeati | 363 – 400 | WD 3Add BLAST | 38 | |
Repeati | 409 – 446 | WD 4Add BLAST | 38 | |
Repeati | 450 – 489 | WD 5Add BLAST | 40 | |
Repeati | 493 – 530 | WD 6Add BLAST | 38 | |
Repeati | 535 – 572 | WD 7Add BLAST | 38 | |
Repeati | 578 – 613 | WD 8Add BLAST | 36 | |
Repeati | 617 – 655 | WD 9Add BLAST | 39 | |
Repeati | 664 – 701 | WD 10Add BLAST | 38 | |
Repeati | 709 – 768 | WD 11Add BLAST | 60 | |
Repeati | 775 – 814 | WD 12Add BLAST | 40 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 77 – 179 | DisorderedSequence analysisAdd BLAST | 103 | |
Regioni | 176 – 815 | Tandem atypical propeller in EMLsAdd BLAST | 640 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 89 – 108 | Polar residuesSequence analysisAdd BLAST | 20 | |
Compositional biasi | 126 – 142 | Polar residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 153 – 169 | Polar residuesSequence analysisAdd BLAST | 17 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Repeat, WD repeatPhylogenomic databases
eggNOGi | KOG2106, Eukaryota |
GeneTreei | ENSGT00940000153887 |
InParanoidi | O00423 |
OMAi | FTGAINC |
OrthoDBi | 271572at2759 |
PhylomeDBi | O00423 |
TreeFami | TF317832 |
Family and domain databases
Gene3Di | 2.130.10.10, 2 hits |
InterProi | View protein in InterPro IPR005108, HELP IPR011047, Quinoprotein_ADH-like_supfam IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR036322, WD40_repeat_dom_sf |
Pfami | View protein in Pfam PF03451, HELP, 1 hit PF00400, WD40, 4 hits |
SMARTi | View protein in SMART SM00320, WD40, 10 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit SSF50998, SSF50998, 1 hit |
PROSITEi | View protein in PROSITE PS50082, WD_REPEATS_2, 3 hits PS50294, WD_REPEATS_REGION, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 14 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8W717 | F8W717_HUMAN | Echinoderm microtubule-associated p... | EML1 | 803 | Annotation score: | ||
A0A3B3IU69 | A0A3B3IU69_HUMAN | Echinoderm microtubule-associated p... | EML1 | 840 | Annotation score: | ||
G3V500 | G3V500_HUMAN | Echinoderm microtubule-associated p... | EML1 | 285 | Annotation score: | ||
G3V3N9 | G3V3N9_HUMAN | Echinoderm microtubule-associated p... | EML1 | 379 | Annotation score: | ||
G3V4H6 | G3V4H6_HUMAN | Echinoderm microtubule-associated p... | EML1 | 128 | Annotation score: | ||
G3V538 | G3V538_HUMAN | Echinoderm microtubule-associated p... | EML1 | 156 | Annotation score: | ||
G3V497 | G3V497_HUMAN | Echinoderm microtubule-associated p... | EML1 | 107 | Annotation score: | ||
H0YJS9 | H0YJS9_HUMAN | Echinoderm microtubule-associated p... | EML1 | 66 | Annotation score: | ||
G3V4U5 | G3V4U5_HUMAN | Echinoderm microtubule-associated p... | EML1 | 85 | Annotation score: | ||
G3V3J1 | G3V3J1_HUMAN | Echinoderm microtubule-associated p... | EML1 | 85 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 93 – 95 | LRT → FRS in AAB57824 (PubMed:9226380).Curated | 3 | |
Sequence conflicti | 106 | K → I in AAB57824 (PubMed:9226380).Curated | 1 | |
Sequence conflicti | 117 | V → F in AAB57824 (PubMed:9226380).Curated | 1 | |
Sequence conflicti | 120 | E → D in AAB57824 (PubMed:9226380).Curated | 1 | |
Sequence conflicti | 189 | M → L in AAB57824 (PubMed:9226380).Curated | 1 | |
Sequence conflicti | 464 – 465 | FA → SP in AAB57824 (PubMed:9226380).Curated | 2 | |
Sequence conflicti | 464 – 465 | FA → SP in CAD12600 (Ref. 2) Curated | 2 | |
Sequence conflicti | 499 – 500 | IP → VS in CAD62313 (Ref. 4) Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071075 | 225 | W → R in BH. 1 PublicationCorresponds to variant dbSNP:rs886037937EnsemblClinVar. | 1 | |
Natural variantiVAR_071076 | 243 | T → A in BH; decreased microtubule-binding. 1 PublicationCorresponds to variant dbSNP:rs886037936EnsemblClinVar. | 1 | |
Natural variantiVAR_031720 | 377 | A → V. Corresponds to variant dbSNP:rs34198557Ensembl. | 1 | |
Natural variantiVAR_081119 | 523 – 815 | Missing in BH. 1 PublicationAdd BLAST | 293 | |
Natural variantiVAR_031721 | 552 | H → N1 PublicationCorresponds to variant dbSNP:rs17853154Ensembl. | 1 | |
Natural variantiVAR_031722 | 556 | S → P3 PublicationsCorresponds to variant dbSNP:rs2250718Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_024476 | 127 | K → KRLNRSVSLLNACKLNRSTP in isoform 3. 1 Publication | 1 |
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. |
CCDSi | CCDS32154.1 [O00423-3] CCDS32155.1 [O00423-1] |
RefSeqi | NP_001008707.1, NM_001008707.1 [O00423-3] NP_004425.2, NM_004434.2 [O00423-1] |
Genome annotation databases
Ensembli | ENST00000262233; ENSP00000262233; ENSG00000066629 ENST00000334192; ENSP00000334314; ENSG00000066629 [O00423-3] |
GeneIDi | 2009 |
KEGGi | hsa:2009 |
MANE-Selecti | ENST00000262233.11; ENSP00000262233.7; NM_004434.3; NP_004425.2 |
UCSCi | uc001ygr.4, human [O00423-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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. |
CCDSi | CCDS32154.1 [O00423-3] CCDS32155.1 [O00423-1] |
RefSeqi | NP_001008707.1, NM_001008707.1 [O00423-3] NP_004425.2, NM_004434.2 [O00423-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4CI8 | X-ray | 2.60 | A/B | 167-815 | [»] | |
SMRi | O00423 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108324, 25 interactors |
IntActi | O00423, 16 interactors |
MINTi | O00423 |
STRINGi | 9606.ENSP00000334314 |
PTM databases
iPTMneti | O00423 |
PhosphoSitePlusi | O00423 |
Genetic variation databases
BioMutai | EML1 |
Proteomic databases
CPTACi | CPTAC-1606 |
EPDi | O00423 |
jPOSTi | O00423 |
MassIVEi | O00423 |
MaxQBi | O00423 |
PaxDbi | O00423 |
PeptideAtlasi | O00423 |
PRIDEi | O00423 |
ProteomicsDBi | 47880 [O00423-1] 47881 [O00423-3] |
Protocols and materials databases
Antibodypediai | 27460, 85 antibodies from 25 providers |
DNASUi | 2009 |
Genome annotation databases
Ensembli | ENST00000262233; ENSP00000262233; ENSG00000066629 ENST00000334192; ENSP00000334314; ENSG00000066629 [O00423-3] |
GeneIDi | 2009 |
KEGGi | hsa:2009 |
MANE-Selecti | ENST00000262233.11; ENSP00000262233.7; NM_004434.3; NP_004425.2 |
UCSCi | uc001ygr.4, human [O00423-1] |
Organism-specific databases
CTDi | 2009 |
DisGeNETi | 2009 |
GeneCardsi | EML1 |
HGNCi | HGNC:3330, EML1 |
HPAi | ENSG00000066629, Low tissue specificity |
MalaCardsi | EML1 |
MIMi | 600348, phenotype 602033, gene |
neXtProti | NX_O00423 |
OpenTargetsi | ENSG00000066629 |
Orphaneti | 99796, Subcortical band heterotopia |
PharmGKBi | PA27767 |
VEuPathDBi | HostDB:ENSG00000066629 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2106, Eukaryota |
GeneTreei | ENSGT00940000153887 |
InParanoidi | O00423 |
OMAi | FTGAINC |
OrthoDBi | 271572at2759 |
PhylomeDBi | O00423 |
TreeFami | TF317832 |
Enzyme and pathway databases
PathwayCommonsi | O00423 |
SignaLinki | O00423 |
Miscellaneous databases
BioGRID-ORCSi | 2009, 2 hits in 1033 CRISPR screens |
ChiTaRSi | EML1, human |
GeneWikii | EML1 |
GenomeRNAii | 2009 |
Pharosi | O00423, Tbio |
PROi | PR:O00423 |
RNActi | O00423, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000066629, Expressed in cortical plate and 230 other tissues |
ExpressionAtlasi | O00423, baseline and differential |
Genevisiblei | O00423, HS |
Family and domain databases
Gene3Di | 2.130.10.10, 2 hits |
InterProi | View protein in InterPro IPR005108, HELP IPR011047, Quinoprotein_ADH-like_supfam IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR036322, WD40_repeat_dom_sf |
Pfami | View protein in Pfam PF03451, HELP, 1 hit PF00400, WD40, 4 hits |
SMARTi | View protein in SMART SM00320, WD40, 10 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit SSF50998, SSF50998, 1 hit |
PROSITEi | View protein in PROSITE PS50082, WD_REPEATS_2, 3 hits PS50294, WD_REPEATS_REGION, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | EMAL1_HUMAN | |
Accessioni | O00423Primary (citable) accession number: O00423 Secondary accession number(s): Q86U15 Q8WWL6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 18, 2001 |
Last sequence update: | July 28, 2009 | |
Last modified: | February 23, 2022 | |
This is version 186 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families