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| 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 | |
Cross database links:
| RefSeq: | NP_000717.2 NP_001139270.1 |
|---|---|
| Entrez Gene ID: | 785 |
| Pfam: | PF00625 PF12052 |
| 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
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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
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| Structure: | |
External Searches:
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Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
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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