Homo sapiens Protein: CACNB4 | |||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-386572.5 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | CACNB4 | ||||||||||||||||||||||
Protein Name | calcium channel, voltage-dependent, beta 4 subunit | ||||||||||||||||||||||
Synonyms | CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000410978 | ||||||||||||||||||||||
InnateDB Gene | IDBG-72371 (CACNB4) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. | ||||||||||||||||||||||
Subcellular Localization | |||||||||||||||||||||||
Disease Associations | Epilepsy, idiopathic generalized 9 (EIG9) [MIM:607682]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. {ECO:0000269PubMed:10762541}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Juvenile myoclonic epilepsy 6 (EJM6) [MIM:607682]: 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Episodic ataxia 5 (EA5) [MIM:613855]: A disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia. {ECO:0000269PubMed:10762541}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Expressed predominantly in the cerebellum and kidney. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
|
||||||||||||||||||||||
Gene Ontology | |||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||
Biological Process |
|
||||||||||||||||||||||
Cellular Component |
|
||||||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000584
Voltage-dependent calcium channel, L-type, beta subunit IPR001452 SH3 domain IPR008145 Guanylate kinase/L-type calcium channel beta subunit IPR027417 P-loop containing nucleoside triphosphate hydrolase |
||||||||||||||||||||||
PFAM |
PF12052
PF00018 PF14604 PF00625 |
||||||||||||||||||||||
PRINTS |
PR01626
PR00452 |
||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00326
SM00072 |
||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | O00305 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-O00305 | ||||||||||||||||||||||
TrEMBL | Q580I4 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 785 | ||||||||||||||||||||||
UniGene | Hs.641772 | ||||||||||||||||||||||
RefSeq | NP_001005746 | ||||||||||||||||||||||
HUGO | HGNC:1404 | ||||||||||||||||||||||
OMIM | 601949 | ||||||||||||||||||||||
CCDS | CCDS46427 | ||||||||||||||||||||||
HPRD | 09057 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB302276 AC068547 AC079790 AC097448 AF038852 AK290049 AK294398 AK316045 AY054985 BC075049 CH471058 U95020 | ||||||||||||||||||||||
GenPept | AAB53333 AAC24206 AAH75049 AAL14351 AAX82014 AAY14759 BAF73808 BAF82738 BAG57651 BAH14416 EAX11494 | ||||||||||||||||||||||