Protein detail
EFHC1
EF-hand domain-containing protein 1 (Myoclonin-1)
Entry name EFHC1 | UniProt ID | EVMP score 0.38 |
Frequency 2 | Transmembrane count | Protein classification Disease related genesHuman disease related genesPredicted intracellular proteins |
EVMP score: annotation confidence score.
Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40
Basic Information
Protein Names
EF-hand domain-containing protein 1 (Myoclonin-1)
Protein Class
Disease related genesHuman disease related genesPredicted intracellular proteins
Protein Function
- Human disease related genes:Nervous system diseases:Epilepsy
- Disease related genes
- Predicted intracellular proteins
Ensembl
Entrez Gene Symbol
Gene Synonym
EJMEJM1FLJ10466POC9RIB72
Gene Description
EF-hand domain containing 1
Chromosome
6
Position
52362123-52529886
Frequency
2
EVMP Score
0.38
Fluorescence & Localization
Brain Regional Specificchoroid plexusCell SpecificBreast lactating cellsSingle-Nuclei Brain Specificchoroid plexus epithelial cell
Function & Pathway
Protein Function
- Human disease related genes:Nervous system diseases:Epilepsy
- Disease related genes
- Predicted intracellular proteins
Cellular Component
Molecular Function
Biological Process
Mediation Categories
Other mediation
Relations & Evidence
Enzyme-Mediated Modification
0 records.
Ligand-Receptor Signaling
4 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| intracellular | intracellular | ComPPI | No | No | No | No | No |
| intracellular | intracellular | GO_Intercell | No | No | No | No | No |
| intracellular | intracellular | UniProt_location | No | No | No | No | No |
| intracellular | intracellular | OmniPath | No | No | No | No | No |
Regulatory Interaction Network
0 records.
Protein Complex Composition
0 records.
Sequence, Structure & Domains
Sequences
Length
640
Mass
73,990
Sequence
MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQAELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDKQVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGRDPFPLLMNRQRVPKVLVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFGITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVLRYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVDNPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREAPAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFFKICESLNVPVDDSLVKELIRMCSHGEGKINYYNFVRAFSN
Alternative Products
Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5JVL4-1; Sequence=Displayed; Name=2; IsoId=Q5JVL4-2; Sequence=VSP_015894, VSP_015895; Name=3; IsoId=Q5JVL4-3; Sequence=VSP_046107
Alternative Sequence
1..21; MVSNPVHGLPFLPGTSFKDST -> ML (in isoform 3); 243..278; LRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREV -> SDIGTTIGLLISKCDLHLLAKGLGSCIGNYFETLQL (in isoform 2); 279..640; Missing (in isoform 2)
3D Structural Models
3D Structure
Electron microscopy (2)
Domain & Motif Annotations
Compositional Bias
538..554; Basic and acidic residues
Domain (FT)
93..198; DM10 1; 239..359; DM10 2; 416..520; DM10 3; 574..609; EF-hand
Region
1..45; Required for its localization in the mitotic spindle and interaction with alpha-tubulin; 535..554; Disordered
Clinical Relevance
Disease Involvement
Disease variantEpilepsy
Antibody
Interaction Protein
ENSG00000089234
Interaction Count
1
Interaction Dataset
intact_biogrid