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8.A.22.1.4
Ca2+ channel, voltage-dependent, β4-subunit, CACNB4

Accession Number:O00305
Protein Name:CACNB4 aka CACNLB4
Length:520
Molecular Weight:58169.00
Species:Homo sapiens (Human) [9606]
Location1 / Topology2 / Orientation3: Cell membrane1 / Peripheral membrane protein2 / Cytoplasmic side3
Substrate NONE

Cross database links:

Genevestigator: O00305 O00305
eggNOG: prNOG10490 prNOG10490
HEGENOM: HBG445475 HBG445475
RefSeq: NP_000717.2    NP_001139270.1   
Entrez Gene ID: 785   
Pfam: PF00625    PF12052   
Drugbank: Drugbank Link   
OMIM: 601949  gene+phenotype
607682  phenotype
KEGG: hsa:785    hsa:785   

Gene Ontology

GO:0005829 C:cytosol
GO:0009898 C:internal side of plasma membrane
GO:0005886 C:plasma membrane
GO:0045202 C:synapse
GO:0005891 C:voltage-gated calcium channel complex
GO:0005515 F:protein binding
GO:0006816 P:calcium ion transport
GO:0051925 P:regulation of calcium ion transport via vol...
GO:0005245 F:voltage-gated calcium channel activity
GO:0007411 P:axon guidance
GO:0051899 P:membrane depolarization
GO:0007268 P:synaptic transmission

References (12)

[1] “Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23.”  Taviaux S.et.al.   9254841
[2] “Alternative splicing of the beta 4 subunit has alpha 1 subunit subtype-specific effects on Ca2+ channel gating.”  Helton T.D.et.al.   11880487
[3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[4] “Calcium channel beta4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic.”  Escayg A.et.al.   9628818
[5] “Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.”  Escayg A.et.al.   10762541
[6] “Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23.”  Taviaux S.et.al.   9254841
[7] “Alternative splicing of the beta 4 subunit has alpha 1 subunit subtype-specific effects on Ca2+ channel gating.”  Helton T.D.et.al.   11880487
[8] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[9] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[10] “Calcium channel beta4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic.”  Escayg A.et.al.   9628818
[11] “Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.”  Escayg A.et.al.   10762541
[12] “Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening.”  Voss M.et.al.   19807924
Structure:
2D46   1VYV   2D46     

External Searches:

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  • BLAST ExPASy (Swiss Institute of Bioinformatics (SIB) BLAST)
  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

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Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MSSSSYAKNG TADGPHSPTS QVARGTTTRR SRLKRSDGST TSTSFILRQG SADSYTSRPS 
61:	DSDVSLEEDR EAIRQEREQQ AAIQLERAKS KPVAFAVKTN VSYCGALDED VPVPSTAISF 
121:	DAKDFLHIKE KYNNDWWIGR LVKEGCEIGF IPSPLRLENI RIQQEQKRGR FHGGKSSGNS 
181:	SSSLGEMVSG TFRATPTSTA KQKQKVTEHI PPYDVVPSMR PVVLVGPSLK GYEVTDMMQK 
241:	ALFDFLKHRF DGRISITRVT ADISLAKRSV LNNPSKRAII ERSNTRSSLA EVQSEIERIF 
301:	ELARSLQLVV LDADTINHPA QLIKTSLAPI IVHVKVSSPK VLQRLIKSRG KSQSKHLNVQ 
361:	LVAADKLAQC PPEMFDVILD ENQLEDACEH LGEYLEAYWR ATHTTSSTPM TPLLGRNLGS 
421:	TALSPYPTAI SGLQSQRMRH SNHSTENSPI ERRSLMTSDE NYHNERARKS RNRLSSSSQH 
481:	SRDHYPLVEE DYPDSYQDTY KPHRNRGSPG GYSHDSRHRL