Tbio EFHC1 EF-hand domain-containing protein 1

Protein Summary

Description

Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581). This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

Uniprot Accession IDs

• Q5JVL4
• B4DMU3
• F5GZD8
• Q5XKM4
• Q6E1U7
• Q6E1U8
• Q8WUL2
• Q9NVW6

Gene Name

• EFHC1

Ensembl ID

• ENST00000371068
• ENSP00000360107
• ENSG00000096093
• ENST00000538167
• ENSP00000444521
• ENST00000636489
• ENSP00000489998
• ENST00000636954
• ENSP00000489966

Symbol

• EJM1
• dJ304B14.2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
virus perturbation	0.94
histone modification site profile	0.84
tissue sample	0.7
protein domain	0.58
transcription factor	0.58

Protein Classes

DTO Classes

Zinc Finger Zz-type And Ef-hand Domain-containing Protein 1

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: 59.78   (req: < 5)

Gene RIFs: 23   (req: <= 3)

Antibodies: 151   (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: 59.78   (req: >= 5)

Gene RIFs: 23   (req: > 3)

Antibodies: 151   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7

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

Expression Data (0 Tissues)

tutorial

No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

Find Targets by Sequence

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Related Tools (4)

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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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 (70)

Explore Interacting Targets

1 – 10 of 70

• See Interactions on String-DB

BRAP

Tbio

Novelty:  0.0285957

p_int:  0.999550949

p_ni:  0.000095115

p_wrong:  0.000353936

Score:  0.393

Data Source:  BioPlex,STRINGDB

HAUS4

Tbio

Novelty:  0.91427982

p_int:  0.996131059

p_ni:  0.003868941

Score:  0.214

Data Source:  BioPlex,STRINGDB

HAUS1

Tbio

Novelty:  0.11356375

p_int:  0.974015266

p_ni:  0.025984733

Score:  0.187

Data Source:  BioPlex,STRINGDB

PAQR8

Tbio

Novelty:  0.05328888

Score:  0.903

Data Source:  STRINGDB

CACNA1E

Tchem

Family:  IC

Novelty:  0.00314898

Score:  0.838

Data Source:  STRINGDB

TEKT1

Tbio

Novelty:  0.04868328

Score:  0.818

Data Source:  STRINGDB

CLCN2

Tclin

Family:  IC

Novelty:  0.00838393

Score:  0.8

Data Source:  STRINGDB

SPAG6

Tbio

Novelty:  0.01327217

Score:  0.718

Data Source:  STRINGDB

CACNB4

Tbio

Family:  IC

Novelty:  0.01564026

Score:  0.648

Data Source:  STRINGDB

CAPSL

Tdark

Novelty:  0.29590686

Score:  0.644

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 (12)

Functions (3)

Components (5)

Processes (4)

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1 – 3 of 3

GO Term	Evidence	Assigned by
alpha-tubulin binding	Inferred from Direct Assay (IDA)	UniProtKB
protein C-terminus binding	Inferred from Sequence or structural Similarity (ISS)	UniProtKB
calcium ion binding	Inferred from Electronic Annotation (IEA)	InterPro

Disease Associations (null)

No disease associations found

GWAS Traits (15)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 15

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
mean platelet volume	EFO_0004584	3	4	4		91.2
low density lipoprotein cholesterol measurement	EFO_0004611	3	2	3		75.4
neutrophil count	EFO_0004833	2	2	2		68
platelet count	EFO_0004309	2	2	2		58.2
myeloid white cell count	EFO_0007988	1	1	1		47.7

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 15

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
mean platelet volume	EFO_0004584	4		91.2
low density lipoprotein cholesterol measurement	EFO_0004611	3		75.4
neutrophil count	EFO_0004833	2		68
platelet count	EFO_0004309	2		58.2
myeloid white cell count	EFO_0007988	1		47.7

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
Alternative splicing
Complete proteome
Cytoplasm
Cytoskeleton
Disease mutation
Epilepsy
Polymorphism
Reference proteome
Repeat

GWAS Trait Find Similar Targets

No Header	No Header
apolipoprotein B measurement
atopic eczema
atopic march
childhood onset asthma
interleukin 7 measurement
intraocular pressure measurement
leukocyte count
low density lipoprotein cholesterol measurement
mean platelet volume
myeloid white cell count

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
cellular phenotype
muscle phenotype
nervous system phenotype

IDG Resources

No IDG generated resources found

Orthologs (14)

1 – 5 of 14

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	EF-hand domain containing 1	VGNC:10025	462765
Macaque	EF-hand domain containing 1		708517
Mouse	EF-hand domain (C-terminal) containing 1	MGI:1919127	71877
Rat	EF-hand domain containing 1	RGD:1587365	301295
Dog	EF-hand domain containing 1	VGNC:40223	474935

Species	Name	OMA	EggNOG	Inparanoid
Chimp	EF-hand domain containing 1
Macaque	EF-hand domain containing 1
Mouse	EF-hand domain (C-terminal) containing 1
Rat	EF-hand domain containing 1
Dog	EF-hand domain containing 1

Publication Statistics

PubMed Score 59.78

PubMed score by year

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PubTator Score 42.51

PubTator score by year

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Related Publications

GeneRif Annotations (23)

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0 of 0

PMID	Text