Entity Details

Primary name EFHC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ5JVL4
EntryNameEFHC1_HUMAN
FullNameEF-hand domain-containing protein 1
TaxID9606
Evidenceevidence at protein level
Length640
SequenceStatuscomplete
DateCreated2005-10-25
DateModified2021-06-02

Ontological Relatives

GenesEFHC1

GO terms

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GOName
GO:0000281 mitotic cytokinesis
GO:0000922 spindle pole
GO:0005509 calcium ion binding
GO:0005813 centrosome
GO:0005930 axoneme
GO:0007052 mitotic spindle organization
GO:0008022 protein C-terminus binding
GO:0021795 cerebral cortex cell migration
GO:0043014 alpha-tubulin binding
GO:0043025 neuronal cell body
GO:0051302 regulation of cell division
GO:0060285 cilium-dependent cell motility
GO:0072686 mitotic spindle

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR002048 EF-hand domainDomainDomain
IPR006602 DM10 domainDomainDomain
IPR011992 EF-hand domain pairFamilyHomologous superfamily
IPR040193 EF-hand domain-containing protein EFHC1/EFHC2/EFHBFamilyFamily

Diseases

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Disease IDSourceNameDescription
254770 OMIMJuvenile myoclonic epilepsy 1 (EJM1)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. Disease susceptibility is associated with variants affecting the gene represented in this entry.
607631 OMIMJuvenile absence epilepsy 1 (JAE1)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. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Interactions

73 interactions

InteractorPartnerSourcesPublicationsLink
EFHC1_HUMANTEX11_HUMANBioGRID, HPRD, IntAct16189514 25910212 32296183 details
EFHC1_HUMANDOK7_HUMANBioGRID, IntAct25814554 details
EFHC1_HUMANITF2_HUMANBioGRID, IntAct25416956 25910212 31515488 32296183 details
EFHC1_HUMAN4ET_HUMANBioGRID, IntAct25416956 25910212 details
EFHC1_HUMANREL_HUMANBioGRID, IntAct25416956 25910212 31515488 32296183 details
EFHC1_HUMANIKZF3_HUMANBioGRID, IntAct25416956 25910212 31515488 32296183 details
EFHC1_HUMANBRAP_HUMANBioGRID, IntAct25820252 28514442 details
EFHC1_HUMANPBX2_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANK1C18_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANCACO2_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANTLE5_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANKCTD4_HUMANBioGRID, IntAct25910212 32296183 details
EFHC1_HUMANZBED1_HUMANBioGRID, IntAct25910212 32296183 details
EFHC1_HUMANSELV_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANMET27_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANLRC61_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANCC130_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANCF161_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANIMP3_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANMB3L1_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANGA2L2_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANWHRN_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANSLAI1_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANMS18B_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANSAPC1_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANSNAI1_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANPFD3_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANCT085_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANGA45B_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANNRIP3_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANPRR5L_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANMRNIP_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANPMF1_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANPAX6_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANEFHC2_HUMANBioGRID, IntAct25910212 32296183 details
EFHC1_HUMANTRAF2_HUMANBioGRID, IntAct25910212 32296183 details
EFHC1_HUMANPBX1_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANNQO2_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANVINEX_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANK2C75_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANTEKT1_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANTT23L_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANCK045_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANNUP54_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANWASF1_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANSYGP1_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANRBTN2_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANMAMC2_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANRCN1_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANT10IP_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANMIC19_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANCENPR_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANUBAP2_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANMIIP_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANMFR1L_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANSPAT2_HUMANBioGRID, IntAct32296183 details
EFHC1_HUMANRIM3A_HUMANBioGRID, IntAct25910212 details
EFHC1_HUMANIHO1_HUMANBioGRID, IntAct25910212 details
EFHC1_HUMANTRIP6_HUMANBioGRID, IntAct25910212 details
EFHC1_HUMANK1C15_HUMANBioGRID, IntAct25910212 details
EFHC1_HUMANSHLB2_HUMANBioGRID, IntAct25910212 details
EFHC1_HUMANHOME3_HUMANBioGRID, IntAct25910212 details
EFHC1_HUMANGOGA2_HUMANBioGRID, IntAct25910212 details
EFHC1_HUMANKLF11_HUMANIntAct32814053 details
EFHC1_HUMANRN125_HUMANBioGRID32296183 details
EFHC1_HUMANFMR1_HUMANBioGRID32296183 details
EFHC1_HUMANASPP2_HUMANBioGRID32296183 details
EFHC1_HUMANTRPM2_HUMANBioGRID22226147 details
EFHC1_HUMANCOA7_HUMANBioGRID, IntAct27173435 unassigned1312 details
EFHC1_HUMANCC150_HUMANBioGRID, IntAct27173435 unassigned1312 details
EFHC1_HUMANSPEE_HUMANBioGRID, IntAct27173435 unassigned1312 details
EFHC1_HUMANDISC1_HUMANIntAct31413325 details
EFHC1_HUMANCAC1E_HUMANBioGRID, HPRD15258581 details