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Tbio
EFHC1
EF-hand domain-containing protein 1

Protein Classes
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
Gene Name
Ensembl ID
  • ENST00000371068
  • ENSP00000360107
  • ENSG00000096093
  • ENST00000538167
  • ENSP00000444521
  • ENST00000636489
  • ENSP00000489998
  • ENST00000636954
  • ENSP00000489966

Symbol
  • EJM1
  • dJ304B14.2
Illumination Graph
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


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
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.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 58.82   (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: 58.82   (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
GWAS Traits (11)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean platelet volume
3
3
3
86.2
neutrophil count
2
2
2
68.1
sex hormone-binding globulin measurement
1
1
1
51.9
myeloid white cell count
1
1
1
48.3
1
1
0
1.3
37.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean platelet volume
3
86.2
neutrophil count
2
68.1
sex hormone-binding globulin measurement
1
51.9
myeloid white cell count
1
48.3
0
1.3
37.3
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
MGI:1919127
71877
Rat
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
Rat
Dog
EF-hand domain containing 1
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q5JVL4-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Gene Ontology Terms (12)
Items per page:
10
1 – 3 of 3
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (70)
1 – 10 of 70
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
Publication Statistics
PubMed Score  58.82

PubMed score by year
PubTator Score  42.51

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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