EFHC1
entrez
114327
canonical
uniprot
Q5JVL4
canonical
ensembl
ENSG00000096093
resolver
ensp
ENSP00000360107
resolver
ensp
ENSP00000489966
resolver
genesymbol
EFHC1
resolver
hgnc
HGNC:16406
resolver
uniprot
B2CKC5
resolver
uniprot
B4DMU3
resolver
uniprot
F5GZD8
resolver
uniprot
Q5XKM4
resolver
uniprot
Q6E1U7
resolver
uniprot
Q6E1U8
resolver
uniprot
Q8WUL2
resolver
uniprot
Q9NVW6
resolver
uniprot_entry
B2CKC5_HUMAN
resolver
uniprot_entry
EFHC1_HUMAN
resolver
uniprot_sec
B4DMU3
resolver
uniprot_sec
F5GZD8
resolver
uniprot_sec
Q5XKM4
resolver
uniprot_sec
Q6E1U7
resolver
uniprot_sec
Q6E1U8
resolver
uniprot_sec
Q8WUL2
resolver
uniprot_sec
Q9NVW6
resolver
amino_acid_sequence
MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQAELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDKQVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGRDPFPLLMNRQRVPKVLVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFGITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVLRYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVDNPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREAPAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFFKICESLNVPVDDSLVKELIRMCSHGEGKINYYNFVRAFSN
uniprot
proteins
disease_involvement
DISEASE: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. {ECO:0000269|PubMed:15258581, ECO:0000269|PubMed:17634063, ECO:0000269|PubMed:22690745, ECO:0000269|PubMed:22727576, ECO:0000269|PubMed:22926142, ECO:0000269|PubMed:28370826}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Juvenile absence epilepsy 1 (JAE1) [MIM:607631]: A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures. {ECO:0000269|PubMed:17159113, ECO:0000305|PubMed:17159113}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Note=Mutation Leu-229 may be a cause of intractable epilepsy of infancy. Affected individuals have seizures of multiple type, manifested as tonic, clonic, and myoclonic seizures in the neonatal period, and as tonic seizures activated frequently by sleep, and repeated frequent myoclonic seizures in later infancy. The seizures are unresponsive to numerous antiepileptic drugs, and infants die in the first years of life. Although heterozygosity for Leu-229 has been associated with relatively benign forms of epilepsy in adolescence, homozygosity for the same mutation has much more severe consequences. {ECO:0000269|PubMed:22690745}.
uniprot
proteins
function
FUNCTION: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Microtubule-associated protein which regulates cell division and neuronal migration during cortical development (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, PubMed:19734894, PubMed:22926142, PubMed:28370826). {ECO:0000269|PubMed:15258581, ECO:0000269|PubMed:19734894, ECO:0000269|PubMed:22926142, ECO:0000269|PubMed:28370826, ECO:0000269|PubMed:36191189}.
uniprot
proteins
mass_dalton
73990
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15258581
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17159113
uniprot
proteins
pubmed
17634063
uniprot
proteins
pubmed
19734894
uniprot
proteins
pubmed
22690745
uniprot
proteins
pubmed
22727576
uniprot
proteins
pubmed
22926142
uniprot
proteins
pubmed
28370826
uniprot
proteins
pubmed
36191189
uniprot
proteins
sequence_length
640
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:36191189}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:Q9D9T8}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:22926142}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:19734894, ECO:0000269|PubMed:22926142}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:28370826}.
uniprot
proteins