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 similarity

GO - Molecular functionⁱ

calcium ion binding
Source: UniProtKB
Non-traceable author statementⁱ
- Ref.1
  "Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32."
  Eudy J.D., Ma-Edmonds M., Yao S.F., Talmadge C.B., Kelley P.M., Weston M.D., Kimberling W.J., Sumegi J.
  Genomics 43:104-106(1997) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT PRO-556.
microtubule binding
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- Ref.7
  "Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human."
  Kielar M., Tuy F.P., Bizzotto S., Lebrand C., de Juan Romero C., Poirier K., Oegema R., Mancini G.M., Bahi-Buisson N., Olaso R., Le Moing A.G., Boutourlinsky K., Boucher D., Carpentier W., Berquin P., Deleuze J.F., Belvindrah R., Borrell V.
  , Welker E., Chelly J., Croquelois A., Francis F.
  Nat. Neurosci. 17:923-933(2014) [PubMed] [Europe PMC] [Abstract]
  Cited for: INVOLVEMENT IN BH, VARIANTS BH ARG-225 AND ALA-243, CHARACTERIZATION OF VARIANT BH ALA-243, SUBUNIT, SUBCELLULAR LOCATION.
tubulin binding
Source: UniProtKB
Inferred from direct assayⁱ
- Ref.9
  "Crystal structure of EML1 reveals the basis for Hsp90 dependence of oncogenic EML4-ALK by disruption of an atypical ?-propeller domain."
  Richards M.W., Law E.W., Rennalls L.P., Busacca S., O'Regan L., Fry A.M., Fennell D.A., Bayliss R.
  Proc. Natl. Acad. Sci. U.S.A. 111:5195-5200(2014) [PubMed] [Europe PMC] [Abstract]
  Cited for: X-RAY CRYSTALLOGRAPHY (2.60 ANGSTROMS) OF 167-815, DOMAIN, INTERACTION WITH TUBULIN, MUTAGENESIS OF 59-LEU--ASP-61; ARG-192; ARG-194; TRP-547; ASN-626; GLU-627; HIS-646 AND HIS-786.

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

PathwayCommonsⁱ	O00423
SignaLinkⁱ	O00423

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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:3330, EML1
MIMⁱ	602033, gene
neXtProtⁱ	NX_O00423
VEuPathDBⁱ	HostDB:ENSG00000066629

Keywords - Cellular componentⁱ

Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Band heterotopia (BH)2 Publications

The disease is caused by variants 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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	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	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 retardation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	2009
MalaCards human disease database More...MalaCardsⁱ	EML1
MIMⁱ	600348, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000066629
Orphanetⁱ	99796, Subcortical band heterotopia
PharmGKBⁱ	PA27767

Miscellaneous databases

Pharosⁱ	O00423, Tbio

Pharosⁱ

O00423, Tbio

Genetic variation databases

BioMutaⁱ	EML1

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

Phosphoprotein

Proteomic databases

The CPTAC Assay portal More...CPTACⁱ	CPTAC-1606
EPDⁱ	O00423
jPOSTⁱ	O00423
MassIVEⁱ	O00423
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O00423
PaxDbⁱ	O00423
PeptideAtlas More...PeptideAtlasⁱ	O00423
PRIDEⁱ	O00423
ProteomicsDBⁱ	47880 [O00423-1] 47881 [O00423-3]

PTM databases

iPTMnetⁱ	O00423
PhosphoSitePlusⁱ	O00423

Expressionⁱ

Tissue specificityⁱ

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

Gene expression databases

Bgeeⁱ	ENSG00000066629, Expressed in cortical plate and 230 other tissues
ExpressionAtlasⁱ	O00423, baseline and differential
Genevisibleⁱ	O00423, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000066629, Low tissue specificity

HPAⁱ

ENSG00000066629, Low tissue specificity

Interactionⁱ

Subunit structureⁱ

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

Interacts with TASOR (By similarity).

By similarity2 Publications

Binary interactionsⁱ

Hide details

O00423

With	#Exp.	IntAct
CASP6 [P55212]	3	EBI-751327,EBI-718729
FXR1 [P51114]	2	EBI-751327,EBI-713291
ISG20L2 [Q9H9L3]	3	EBI-751327,EBI-751335
LAMP2 - isoform LAMP-2B [P13473-2]	3	EBI-751327,EBI-21591415
STIP1 [P31948]	3	EBI-751327,EBI-1054052

GO - Molecular functionⁱ

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGRIDⁱ	108324, 25 interactors
IntActⁱ	O00423, 16 interactors
Molecular INTeraction database More...MINTⁱ	O00423
STRINGⁱ	9606.ENSP00000334314

Miscellaneous databases

RNActⁱ	O00423, protein

RNActⁱ

O00423, protein

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	179 – 181	Combined sources	3
Turnⁱ	182 – 185	Combined sources	4
Beta strandⁱ	186 – 199	Combined sources	14
Helixⁱ	202 – 205	Combined sources	4
Beta strandⁱ	220 – 227	Combined sources	8
Beta strandⁱ	238 – 240	Combined sources	3
Beta strandⁱ	246 – 250	Combined sources	5
Beta strandⁱ	253 – 258	Combined sources	6
Turnⁱ	259 – 262	Combined sources	4
Beta strandⁱ	263 – 267	Combined sources	5
Beta strandⁱ	274 – 279	Combined sources	6
Beta strandⁱ	283 – 291	Combined sources	9
Beta strandⁱ	305 – 309	Combined sources	5
Turnⁱ	310 – 312	Combined sources	3
Beta strandⁱ	315 – 319	Combined sources	5
Turnⁱ	321 – 323	Combined sources	3
Beta strandⁱ	326 – 333	Combined sources	8
Beta strandⁱ	335 – 339	Combined sources	5
Beta strandⁱ	342 – 346	Combined sources	5
Beta strandⁱ	348 – 350	Combined sources	3
Beta strandⁱ	352 – 357	Combined sources	6
Helixⁱ	358 – 360	Combined sources	3
Beta strandⁱ	362 – 368	Combined sources	7
Beta strandⁱ	374 – 379	Combined sources	6
Beta strandⁱ	386 – 392	Combined sources	7
Beta strandⁱ	394 – 401	Combined sources	8
Beta strandⁱ	404 – 409	Combined sources	6
Beta strandⁱ	419 – 426	Combined sources	8
Beta strandⁱ	432 – 436	Combined sources	5
Beta strandⁱ	441 – 444	Combined sources	4
Beta strandⁱ	449 – 455	Combined sources	7
Beta strandⁱ	458 – 461	Combined sources	4
Beta strandⁱ	463 – 468	Combined sources	6
Beta strandⁱ	474 – 478	Combined sources	5
Turnⁱ	479 – 481	Combined sources	3
Beta strandⁱ	483 – 487	Combined sources	5
Beta strandⁱ	493 – 498	Combined sources	6
Turnⁱ	501 – 503	Combined sources	3
Beta strandⁱ	505 – 511	Combined sources	7
Beta strandⁱ	517 – 521	Combined sources	5
Beta strandⁱ	526 – 529	Combined sources	4
Beta strandⁱ	536 – 539	Combined sources	4
Beta strandⁱ	546 – 551	Combined sources	6
Beta strandⁱ	553 – 562	Combined sources	10
Beta strandⁱ	565 – 571	Combined sources	7
Turnⁱ	572 – 575	Combined sources	4
Beta strandⁱ	576 – 582	Combined sources	7
Beta strandⁱ	587 – 592	Combined sources	6
Beta strandⁱ	596 – 612	Combined sources	17
Turnⁱ	613 – 615	Combined sources	3
Beta strandⁱ	618 – 623	Combined sources	6
Beta strandⁱ	625 – 627	Combined sources	3
Beta strandⁱ	629 – 634	Combined sources	6
Beta strandⁱ	638 – 645	Combined sources	8
Beta strandⁱ	650 – 656	Combined sources	7
Turnⁱ	657 – 660	Combined sources	4
Beta strandⁱ	661 – 668	Combined sources	8
Beta strandⁱ	675 – 681	Combined sources	7
Beta strandⁱ	687 – 691	Combined sources	5
Beta strandⁱ	697 – 700	Combined sources	4
Helixⁱ	701 – 703	Combined sources	3
Helixⁱ	710 – 713	Combined sources	4
Beta strandⁱ	724 – 726	Combined sources	3
Turnⁱ	727 – 731	Combined sources	5
Beta strandⁱ	741 – 747	Combined sources	7
Beta strandⁱ	749 – 758	Combined sources	10
Beta strandⁱ	763 – 768	Combined sources	6
Beta strandⁱ	772 – 774	Combined sources	3
Beta strandⁱ	778 – 780	Combined sources	3
Beta strandⁱ	789 – 792	Combined sources	4
Beta strandⁱ	796 – 802	Combined sources	7
Beta strandⁱ	809 – 815	Combined sources	7

Show more details

3D structure databases

SMRⁱ	O00423
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	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	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

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

eggNOGⁱ	KOG2106, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000153887
InParanoidⁱ	O00423
OMAⁱ	FTGAINC
Database of Orthologous Groups More...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
Pfam protein domain database More...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

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

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

This entry has 2 described isoforms and 14 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: O00423-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the canonicalⁱ 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]FASTA Add to basket

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

« 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 TAVPATKRLN RSVSLLNACK LNRSTPSNIK 
       160        170        180        190        200
RTSSSERVSP GGRRESNGDS RGNRNRTGST SSSSSGKKNS ESKPKEPVFS 
       210        220        230        240        250
AEEGYVKMFL RGRPVTMYMP KDQVDSYSLE AKVELPTKRL KLEWVYGYRG 
       260        270        280        290        300
RDCRNNLYLL PTGETVYFIA SVVVLYNVEE QLQRHYAGHN DDVKCLAVHP 
       310        320        330        340        350
DRITIATGQV AGTSKDGKQL PPHVRIWDSV TLNTLHVIGI GFFDRAVTCI 
       360        370        380        390        400
AFSKSNGGTN LCAVDDSNDH VLSVWDWQKE EKLADVKCSN EAVFAADFHP 
       410        420        430        440        450
TDTNIIVTCG KSHLYFWTLE GSSLNKKQGL FEKQEKPKFV LCVTFSENGD 
       460        470        480        490        500
TITGDSSGNI LVWGKGTNRI SYAVQGAHEG GIFALCMLRD GTLVSGGGKD 
       510        520        530        540        550
RKLISWSGNY QKLRKTEIPE QFGPIRTVAE GKGDVILIGT TRNFVLQGTL 
       560        570        580        590        600
SGDFTPITQG HTDELWGLAI HASKSQFLTC GHDKHATLWD AVGHRPVWDK 
       610        620        630        640        650
IIEDPAQSSG FHPSGSVVAV GTLTGRWFVF DTETKDLVTV HTDGNEQLSV 
       660        670        680        690        700
MRYSPDGNFL AIGSHDNCIY IYGVSDNGRK YTRVGKCSGH SSFITHLDWS 
       710        720        730        740        750
VNSQFLVSNS GDYEILYWVP SACKQVVSVE TTRDIEWATY TCTLGFHVFG 
       760        770        780        790        800
VWPEGSDGTD INAVCRAHEK KLLSTGDDFG KVHLFSYPCS QFRAPSHIYG 
       810        820        830 
GHSSHVTNVD FLCEDSHLIS TGGKDTSIMQ WRVI

Show »

Length:834

Mass (Da):91,985

Checksum:ⁱ66B7AE5D761B3AA3

GO

Computationally mapped potential isoform sequencesⁱ

There are 14 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name	Protein names	Gene names	Length	Annotation

	F8W717	F8W717_HUMAN	Echinoderm microtubule-associated p... Echinoderm microtubule-associated protein-like 1	EML1	803	Annotation score:
	A0A3B3IU69	A0A3B3IU69_HUMAN	Echinoderm microtubule-associated p... Echinoderm microtubule-associated protein-like 1	EML1	840	Annotation score:
	G3V500	G3V500_HUMAN	Echinoderm microtubule-associated p... Echinoderm microtubule-associated protein-like 1	EML1	285	Annotation score:
	G3V3N9	G3V3N9_HUMAN	Echinoderm microtubule-associated p... Echinoderm microtubule-associated protein-like 1	EML1	379	Annotation score:
	G3V4H6	G3V4H6_HUMAN	Echinoderm microtubule-associated p... Echinoderm microtubule-associated protein-like 1	EML1	128	Annotation score:
	G3V538	G3V538_HUMAN	Echinoderm microtubule-associated p... Echinoderm microtubule-associated protein-like 1	EML1	156	Annotation score:
	G3V497	G3V497_HUMAN	Echinoderm microtubule-associated p... Echinoderm microtubule-associated protein-like 1	EML1	107	Annotation score:
	H0YJS9	H0YJS9_HUMAN	Echinoderm microtubule-associated p... Echinoderm microtubule-associated protein-like 1	EML1	66	Annotation score:
	G3V4U5	G3V4U5_HUMAN	Echinoderm microtubule-associated p... Echinoderm microtubule-associated protein-like 1	EML1	85	Annotation score:
	G3V3J1	G3V3J1_HUMAN	Echinoderm microtubule-associated p... Echinoderm microtubule-associated protein-like 1	EML1	85	Annotation score:
There are more potential isoformsShow all

Sequence cautionⁱ

The sequence AAB57824 differs from that shown. Reason: Frameshift.Curated

The sequence CAD62313 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	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	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 AJ428186 Genomic DNA Translation: CAD12600.2 BC032541 mRNA Translation: AAH32541.1 BC033043 mRNA Translation: AAH33043.1 BX247979 mRNA Translation: CAD62313.1 Different initiation.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS32154.1 [O00423-3] CCDS32155.1 [O00423-1]
NCBI Reference Sequences More...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
UCSC genome browser More...UCSCⁱ	uc001ygr.4, human [O00423-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O00423	Echinoderm microtubule-associated protein-like 1		FUKDA		1009	UniRef90_O00423
EMAP like 1		CYACU		818
EMAP like 1		Buteo japonicus		817
EMAP like 1		SAIBB		817
HELP domain-containing protein		NOMLE		817
+56
O00423-3	EMAP like 1		CANLF		1035	UniRef90_O00423-3
EMAP like 1		PIG		904
echinoderm microtubule-associated protein-like 1 isoform X1		BALMU		882
(raccoon dog) hypothetical protein		NYCPR		878
echinoderm microtubule-associated protein-like 1 isoform X2		HIPAR		875
+342

Protein	Similar proteins		Species	Score	Length	Source
O00423	Echinoderm microtubule-associated protein-like 1		FUKDA		1009	UniRef50_O00423
EMAP like 1		CYACU		818
EMAP like 1		SAIBB		817
EMAP like 1		Buteo japonicus		817
HELP domain-containing protein		NOMLE		817
+223
O00423-3	EMAP like 1		CANLF		1035	UniRef50_O00423-3
EMAP like 1		PIG		904
echinoderm microtubule-associated protein-like 1 isoform X1		BALMU		882
(raccoon dog) hypothetical protein		NYCPR		878
echinoderm microtubule-associated protein-like 1 isoform X2		HIPAR		875
+352

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U97018 mRNA Translation: AAB57824.1 Frameshift. AJ420603 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: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...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

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
The DNASU plasmid repository More...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
GenAtlas: human gene database More...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
Protein Ontology More...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 , Q8N536, Q8N5C4, 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 proteome

Documents

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

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UniProtKB - O00423 (EMAL1_HUMAN)

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Echinoderm microtubule-associated protein-like 1

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Cytoplasm and Cytosol

Cytoskeleton

Other locations

Cytoskeleton

Cytosol

Other locations

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Genetic variation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

O00423

GO - Molecular functioni

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

Compositional bias

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Genetic variation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ