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Protein Page:
EFHC1 (human)

EFHC1 microtubule-associated protein (MAP) that is abundant in sperm flagella and motile cilia but expressed at low levels in the adult brain. It is not present in immotile primary cilia. May enhance calcium influx through CACNA1E and stimulate programmed cell death. Interacts with the C-terminus of CACNA1E. Implicated in neuronal migration and may play a role during brain development. Mutations in EFHC1 gene have been previously reported in patients with epilepsies, including those with juvenile myoclonic epilepsy. Two alternatively spliced human isoforms have been described. Note: This description may include information from UniProtKB.
Cellular Component: cell soma; axoneme
Molecular Function: protein C-terminus binding; calcium ion binding
Reference #:  Q5JVL4 (UniProtKB)
Alt. Names/Synonyms: dJ304B14.2; EF-hand domain (C-terminal) containing 1; EF-hand domain-containing protein 1; EFHC1; FLJ10466; FLJ37290; Myoclonin-1
Gene Symbols: EFHC1
Molecular weight: 73,990 Da
Basal Isoelectric point: 5.82  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  

Show Multiple Sequence Alignment


SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.



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