[1]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). TISSUE=Brain; DOI=10.1007/s004390050482; PubMed=9254841 [NCBI, ExPASy, EBI, Israel, Japan] Taviaux S., Williams M.E., Harpold M.M., Nargeot J., Lory P.; "Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23."; Hum. Genet. 100:151-154(1997).
[2]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND ALTERNATIVE SPLICING. TISSUE=Spinal cord; PubMed=11880487 [NCBI, ExPASy, EBI, Israel, Japan] Helton T.D., Horne W.A.; "Alternative splicing of the beta 4 subunit has alpha 1 subunit subtype-specific effects on Ca2+ channel gating."; J. Neurosci. 22:1573-1582(2002).
[3]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). TISSUE=Brain; DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team; "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."; Genome Res. 14:2121-2127(2004).
[4]	NUCLEOTIDE SEQUENCE [MRNA] OF 9-520 (ISOFORM 1). DOI=10.1006/geno.1998.5311; PubMed=9628818 [NCBI, ExPASy, EBI, Israel, Japan] Escayg A., Jones J.M., Kearney J.A., Hitchcock P.F., Meisler M.H.; "Calcium channel beta4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic."; Genomics 50:14-22(1998).
[5]	DISEASE, AND VARIANT IGE PHE-104. DOI=10.1086/302909; PubMed=10762541 [NCBI, ExPASy, EBI, Israel, Japan] Escayg A., De Waard M., Lee D.D., Bichet D., Wolf P., Mayer T., Johnston J., Baloh R., Sander T., Meisler M.H.; "Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia."; Am. J. Hum. Genet. 66:1531-1539(2000).

Comments

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.
SUBUNIT: The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma.
INTERACTION:
P21579:SYT1; NbExp=1; IntAct=EBI-714855, EBI-524909;

ALTERNATIVE PRODUCTS: 2 named isoforms [FASTA] produced by alternative splicing.

Name	1
Synonyms	4b
Isoform ID	O00305-1
This is the isoform sequence displayed in this entry.

Name	2
Synonyms	4a
Isoform ID	O00305-2
Features which should be applied to build the isoform sequence: VSP_000635.

TISSUE SPECIFICITY: Expressed predominantly in the cerebellum and kidney.
DISEASE: Defects in CACNB4 are associated with susceptibility to idiopathic generalized epilepsy (IGE) [MIM:600669]. IGE is 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.
DISEASE: Defects in CACNB4 are a cause of juvenile myoclonic epilepsy (EJM) [MIM:606904]. EJM is 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.
SIMILARITY: Belongs to the calcium channel beta subunit family.
SIMILARITY: Contains 1 SH3 domain.
WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=CACNB4";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

U95020; AAB53333.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AY054985; AAL14351.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC075049; AAH75049.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF038852; AAC24206.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI

IPI00011258; -.
IPI00478791; -.

RefSeq

NP_000717.2; -.

UniGene

Hs.614033

3D structure databases

PDB

2D46; NMR; -; A=50-92.

[ExPASy / RCSB / EBI]

PDBsum

2D46; -.

ModBase

O00305.

Protein-protein interaction databases

IntAct

O00305; 6.

Protein family/group databases

TCDB

8.A.22.4.1; Ca2+ channel auxiliary subunit beta types 1-4 (CCA-beta) family.

PTM databases

PhosphoSite

O00305; -.

Enzyme and pathway databases

Reactome

REACT_13685; Synaptic Transmission.

Organism-specific databases

GC02M152402; -.

HGNC:1404; CACNB4.

HPA015601; -.

600669; phenotype. [NCBI / EBI]
601949; gene+phenotype. [NCBI / EBI]
606904; phenotype. [NCBI / EBI]

Orphanet

307; Juvenile myoclonic epilepsy.

PharmGKB

PA26014; -.

Gene expression databases

O00305; -.

O00305; -.

HS_CACNB4; -.

ENSG00000182389; Homo sapiens.

Ontologies

GO:0005829;	Cellular component: cytosol (inferred from experiment from Reactome).
GO:0009898;	Cellular component: internal side of plasma membrane (traceable author statement from UniProtKB).
GO:0005891;	Cellular component: voltage-gated calcium channel complex (inferred from direct assay from UniProtKB).
GO:0005509;	Molecular function: calcium ion binding (inferred from electronic annotation from UniProtKB-KW).
GO:0005515;	Molecular function: protein binding (inferred from physical interaction from IntAct).
GO:0005245;	Molecular function: voltage-gated calcium channel activity (inferred from electronic annotation from InterPro).
GO:0006816;	Biological process: calcium ion transport (inferred from electronic annotation from UniProtKB-KW).
GO:0051925;	Biological process: regulation of calcium ion transport via voltage-gated calcium channel activity (inferred from direct assay from UniProtKB).
QuickGo view.

Family and domain databases

InterPro

IPR008145; Guanylt/Ca.
IPR001452; SH3_domain.
IPR000584; VDCC_L_bsu.
Graphical view of domain structure.

PANTHER

PTHR11824; Ca_channel_B; 1.

Pfam

PF00774; Ca_channel_B; 1.
Pfam graphical view of domain structure.

PRINTS

PR01626; LCACHANNELB.

SMART

SM00072; GuKc; 1.
SM00326; SH3; 1.
SMART graphical view of domain structure.

PROSITE

PS50002; SH3; 1.
PROSITE graphical view of domain structure (profiles).

Proteomic databases

PRIDE

O00305; -.

Genome annotation databases

Ensembl

ENSG00000182389; Homo sapiens. [Contig view]

GeneID

785; -.

KEGG

hsa:785; -.

Phylogenomic databases

HOGENOM

O00305; -.

HOVERGEN

O00305; -.

Other

DrugBank

DB00661; Verapamil.

NextBio

3194; -.

SOURCE

CACNB4; Homo sapiens.

ProtoNet

O00305.

UniRef

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

3D-structure; Alternative splicing; Calcium; Calcium channel; Calcium transport; Disease mutation; Epilepsy; Ion transport; Ionic channel; Phosphoprotein; SH3 domain; Transport; Voltage-gated channel.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 520`	`520`	`Voltage-dependent L-type calcium channel subunit beta-4.`	`PRO_0000144060`
`DOMAIN`	`118 153`	`36`	`SH3.`
`MOD_RES`	`39 39`		`Phosphoserine (By similarity).`
`MOD_RES`	`405 405`		`Phosphothreonine (By similarity).`
`MOD_RES`	`406 406`		`Phosphoserine (By similarity).`
`MOD_RES`	`411 411`		`Phosphothreonine (By similarity).`
`MOD_RES`	`508 508`		`Phosphoserine (By similarity).`
`VAR_SEQ`	`1 49`		`MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGST` `TSTSFILRQ -> MYDNLYLHGIENSEA (in isoform 2).`	`VSP_000635`
`VARIANT`	`104 104`	`1`	`C -> F (in IGE; dbSNP:rs1805031 [NCBI]).`	`VAR_013669`
`CONFLICT`	`245 245`		`F -> S (in Ref. 1; AAB53333 and 2; AAL14351).`
`CONFLICT`	`311 311`		`L -> V (in Ref. 2; AAL14351).`
`CONFLICT`	`441 441`		`S -> T (in Ref. 2; AAL14351).`
`STRAND`	`51 54`	`4`
`STRAND`	`57 59`	`3`
`HELIX`	`66 68`	`3`
`TURN`	`71 73`	`3`
`HELIX`	`74 88`	`15`

Sequence information

Length: 520 AA [This is the length of the unprocessed precursor]

Molecular weight: 58169 Da [This is the MW of the unprocessed precursor]

CRC64: 21025FA9782347FA [This is a checksum on the sequence]

        10         20         30         40         50         60 
MSSSSYAKNG TADGPHSPTS QVARGTTTRR SRLKRSDGST TSTSFILRQG SADSYTSRPS 

        70         80         90        100        110        120 
DSDVSLEEDR EAIRQEREQQ AAIQLERAKS KPVAFAVKTN VSYCGALDED VPVPSTAISF 

       130        140        150        160        170        180 
DAKDFLHIKE KYNNDWWIGR LVKEGCEIGF IPSPLRLENI RIQQEQKRGR FHGGKSSGNS 

       190        200        210        220        230        240 
SSSLGEMVSG TFRATPTSTA KQKQKVTEHI PPYDVVPSMR PVVLVGPSLK GYEVTDMMQK 

       250        260        270        280        290        300 
ALFDFLKHRF DGRISITRVT ADISLAKRSV LNNPSKRAII ERSNTRSSLA EVQSEIERIF 

       310        320        330        340        350        360 
ELARSLQLVV LDADTINHPA QLIKTSLAPI IVHVKVSSPK VLQRLIKSRG KSQSKHLNVQ 

       370        380        390        400        410        420 
LVAADKLAQC PPEMFDVILD ENQLEDACEH LGEYLEAYWR ATHTTSSTPM TPLLGRNLGS 

       430        440        450        460        470        480 
TALSPYPTAI SGLQSQRMRH SNHSTENSPI ERRSLMTSDE NYHNERARKS RNRLSSSSQH 

       490        500        510        520 
SRDHYPLVEE DYPDSYQDTY KPHRNRGSPG GYSHDSRHRL

O00305 in FASTA format

View entry in raw text format (no links)
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	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools