Tbio EML1 Echinoderm microtubule-associated protein-like 1

Protein Summary

Description

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. Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• O00423
• Q86U15
• Q8N536
• Q8N5C4
• Q8WWL6
• EMAP-1

Gene Name

• EML1

Ensembl ID

• ENST00000262233
• ENSP00000262233
• ENSG00000066629
• ENST00000334192
• ENSP00000334314

Symbol

• EMAP1
• EMAPL
• EMAPL1
• BH
• EMAP
• ELP79
• EMAPL
• HuEMAP

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
virus perturbation	0.76
protein domain	0.73
microRNA	0.71
PubMedID	0.68
transcription factor	0.62

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 49.7   (req: < 5)

Gene RIFs: 5   (req: <= 3)

Antibodies: 78   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 49.7   (req: >= 5)

Gene RIFs: 5   (req: > 3)

Antibodies: 78   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

Related Tools

Target Illumination GWAS Analytics (TIGA)

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (45)

Explore Interacting Targets

1 – 10 of 45

• See Interactions on String-DB

FBXO28

Tbio

Novelty:  0.10548865

p_int:  1

Score:  0.263

Data Source:  BioPlex,STRINGDB

TUBB2A

Tclin

Novelty:  0.00902924

p_int:  0.999998922

p_ni:  0.000001078

Score:  0.836

Data Source:  BioPlex,STRINGDB

EML4

Tbio

Novelty:  0.00217772

p_int:  0.999993669

p_ni:  0.000006331

Score:  0.935

Data Source:  BioPlex,STRINGDB

TUBB2B

Tclin

Novelty:  0.02905844

p_int:  0.999949733

p_ni:  0.000050267

Score:  0.704

Data Source:  BioPlex,STRINGDB

TUBB3

Tclin

Novelty:  0.00195963

p_int:  0.998123451

p_ni:  0.00176902

p_wrong:  0.000107529

Score:  0.552

Data Source:  BioPlex,STRINGDB

TUBB

Tclin

Novelty:  0.0038007

p_int:  0.986882784

p_ni:  0.013117216

Score:  0.827

Data Source:  BioPlex,STRINGDB

ALK

Tclin

Family:  Kinase

Novelty:  0.00022375

Score:  0.669

Data Source:  STRINGDB

ISG20L2

Tdark

Family:  Enzyme

Novelty:  0.31037114

Score:  0.652

Data Source:  STRINGDB

AIMP1

Tbio

Family:  Enzyme

Novelty:  0.00743447

Score:  0.63

Data Source:  STRINGDB

KIF5A

Tbio

Novelty:  0.01277095

Score:  0.57

Data Source:  STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (0)

No pathways found

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (15)

Functions (3)

Components (7)

Processes (5)

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1 – 3 of 3

GO Term	Evidence	Assigned by
tubulin binding	Inferred from Direct Assay (IDA)	UniProtKB
microtubule binding	Inferred from Mutant Phenotype (IMP)	UniProtKB
calcium ion binding	Non-traceable Author Statement (NAS)	UniProtKB

Disease Associations ()

No disease associations found

GWAS Traits (2)

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5

1 – 2 of 2

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
coronary artery disease	EFO_0001645	8	6	5	1.1	92
myocardial infarction	EFO_0000612	1	1	0	1.1	31.4

• Explore on Target Illumination GWAS Analytics (TIGA)

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1 – 2 of 2

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
coronary artery disease	EFO_0001645	5	1.1	92
myocardial infarction	EFO_0000612	0	1.1	31.4

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
Complete proteome
Cytoplasm
Cytoskeleton
Disease mutation
Epilepsy
Lissencephaly
Mental retardation
Microtubule

GWAS Trait Find Similar Targets

No Header	No Header
coronary artery disease
myocardial infarction

MGI Phenotype Find Similar Targets

No Header	No Header
adipose tissue phenotype
behavior/neurological phenotype
cellular phenotype
craniofacial phenotype
growth/size/body region phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype
integument phenotype
muscle phenotype
nervous system phenotype

IDG Resources

No IDG generated resources found

Orthologs (9)

1 – 5 of 9

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	echinoderm microtubule associated protein like 1	VGNC:3435	453155
Macaque	echinoderm microtubule associated protein like 1		705977
Mouse	echinoderm microtubule associated protein like 1	MGI:1915769	68519
Rat	echinoderm microtubule associated protein like 1	RGD:1306374	362783
Dog	echinoderm microtubule associated protein like 1	VGNC:40346	490853

Species	Name	OMA	EggNOG	Inparanoid
Chimp	echinoderm microtubule associated protein like 1
Macaque	echinoderm microtubule associated protein like 1
Mouse	echinoderm microtubule associated protein like 1
Rat	echinoderm microtubule associated protein like 1
Dog	echinoderm microtubule associated protein like 1

Publication Statistics

PubMed Score 49.70

PubMed score by year

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PubTator Score 44.15

PubTator score by year

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Related Publications

Text Mined References (17)

GeneRif Annotations (5)

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10

0 of 0

PMID	Year	Title