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EFHC1 (human)

Overview 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; flagellum; axoneme; cilium 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

Select Structure to View Below EFHC1

STRING  |  Scansite  |  Phospho.ELM  |  Pfam  |  DISEASE 254770 607631 608815  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  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  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	2		Y115-p	PMStEEQyRIRQVNI
0	1		T111-p	QEDVPMStEEQyRIR
0	1		R296	PLLMNRQRVPKVLVE
0	1		T341-p	SLTILGRtFFIyDCD
0	1		Y345-p	LGRtFFIyDCDPFtR
0	1		T351-p	IyDCDPFtRRYYKEK

	mouse
Y115	PISMEEHYRIRHVNI
M111	QEDVPISMEEHYRIR
R296-m1	PLLMNRQrMPKVLVE
T341	PLTILGRTFFIYDCD
Y345	LGRTFFIYDCDPFTR
T351	IYDCDPFTRQFYKDK

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