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O00305

- CACB4_HUMAN

UniProt

O00305 - CACB4_HUMAN

Protein

Voltage-dependent L-type calcium channel subunit beta-4

Gene

CACNB4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 155 (01 Oct 2014)
      Sequence version 2 (06 Feb 2007)
      Previous versions | rss
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    Functioni

    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.

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. voltage-gated calcium channel activity Source: Ensembl

    GO - Biological processi

    1. adult walking behavior Source: Ensembl
    2. axon guidance Source: Reactome
    3. calcium ion transmembrane transport Source: GOC
    4. cAMP metabolic process Source: Ensembl
    5. cellular calcium ion homeostasis Source: Ensembl
    6. detection of light stimulus involved in visual perception Source: Ensembl
    7. gamma-aminobutyric acid secretion Source: Ensembl
    8. gamma-aminobutyric acid signaling pathway Source: Ensembl
    9. membrane depolarization Source: Reactome
    10. muscle fiber development Source: Ensembl
    11. neuromuscular junction development Source: Ensembl
    12. neuronal action potential propagation Source: Ensembl
    13. Peyer's patch development Source: Ensembl
    14. regulation of voltage-gated calcium channel activity Source: UniProtKB
    15. spleen development Source: Ensembl
    16. synaptic transmission Source: Reactome
    17. synaptic transmission, glutamatergic Source: Ensembl
    18. T cell receptor signaling pathway Source: Ensembl
    19. thymus development Source: Ensembl
    20. transport Source: ProtInc

    Keywords - Molecular functioni

    Calcium channel, Ion channel, Voltage-gated channel

    Keywords - Biological processi

    Calcium transport, Ion transport, Transport

    Keywords - Ligandi

    Calcium

    Enzyme and pathway databases

    ReactomeiREACT_13606. Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels.
    REACT_18312. NCAM1 interactions.

    Protein family/group databases

    TCDBi8.A.22.1.4. the ca(2+) channel auxiliary subunit types 1-4 (cca-) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Voltage-dependent L-type calcium channel subunit beta-4
    Short name:
    CAB4
    Alternative name(s):
    Calcium channel voltage-dependent subunit beta 4
    Gene namesi
    Name:CACNB4
    Synonyms:CACNLB4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:1404. CACNB4.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasmic side of plasma membrane Source: UniProtKB
    2. cytosol Source: Reactome
    3. plasma membrane Source: UniProtKB
    4. synapse Source: UniProtKB
    5. voltage-gated calcium channel complex Source: UniProtKB

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti104 – 1041C → F in EA5; associated with susceptibility to EIG9. 1 Publication
    Corresponds to variant rs1805031 [ dbSNP | Ensembl ].
    VAR_013669
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti104 – 1041C → F in EA5; associated with susceptibility to EIG9. 1 Publication
    Corresponds to variant rs1805031 [ dbSNP | Ensembl ].
    VAR_013669

    Keywords - Diseasei

    Disease mutation, Epilepsy

    Organism-specific databases

    MIMi607682. phenotype.
    613855. phenotype.
    Orphaneti211067. Episodic ataxia type 5.
    307. Juvenile myoclonic epilepsy.
    PharmGKBiPA26014.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 520520Voltage-dependent L-type calcium channel subunit beta-4PRO_0000144060Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei411 – 4111PhosphothreonineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiO00305.
    PRIDEiO00305.

    PTM databases

    PhosphoSiteiO00305.

    Expressioni

    Tissue specificityi

    Expressed predominantly in the cerebellum and kidney.

    Gene expression databases

    ArrayExpressiO00305.
    BgeeiO00305.
    CleanExiHS_CACNB4.
    GenevestigatoriO00305.

    Organism-specific databases

    HPAiHPA015601.

    Interactioni

    Subunit structurei

    The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with FASLG.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    SYT1P215792EBI-714855,EBI-524909

    Protein-protein interaction databases

    BioGridi107239. 6 interactions.
    IntActiO00305. 7 interactions.
    MINTiMINT-1418672.
    STRINGi9606.ENSP00000343563.

    Structurei

    Secondary structure

    1
    520
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi51 – 544
    Beta strandi57 – 593
    Helixi66 – 683
    Turni71 – 733
    Helixi74 – 8815

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1VYVX-ray3.00A/B254-408[»]
    2D46NMR-A50-92[»]
    ProteinModelPortaliO00305.
    SMRiO00305. Positions 50-403.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO00305.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini118 – 15336SH3PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 SH3 domain.PROSITE-ProRule annotation

    Keywords - Domaini

    SH3 domain

    Phylogenomic databases

    eggNOGiNOG326500.
    HOGENOMiHOG000230979.
    HOVERGENiHBG050765.
    InParanoidiO00305.
    KOiK04865.
    OMAiSYAKNGT.
    OrthoDBiEOG7966G4.
    PhylomeDBiO00305.
    TreeFamiTF316195.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR008145. GK/Ca_channel_bsu.
    IPR027417. P-loop_NTPase.
    IPR001452. SH3_domain.
    IPR000584. VDCC_L_bsu.
    [Graphical view]
    PANTHERiPTHR11824. PTHR11824. 1 hit.
    PfamiPF00625. Guanylate_kin. 1 hit.
    PF12052. VGCC_beta4Aa_N. 1 hit.
    [Graphical view]
    PRINTSiPR01626. LCACHANNELB.
    SMARTiSM00072. GuKc. 1 hit.
    SM00326. SH3. 1 hit.
    [Graphical view]
    SUPFAMiSSF50044. SSF50044. 1 hit.
    SSF52540. SSF52540. 1 hit.
    PROSITEiPS50002. SH3. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O00305-1) [UniParc]FASTAAdd to Basket

    Also known as: 4b

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSSSSYAKNG TADGPHSPTS QVARGTTTRR SRLKRSDGST TSTSFILRQG    50
    SADSYTSRPS DSDVSLEEDR EAIRQEREQQ AAIQLERAKS KPVAFAVKTN 100
    VSYCGALDED VPVPSTAISF DAKDFLHIKE KYNNDWWIGR LVKEGCEIGF 150
    IPSPLRLENI RIQQEQKRGR FHGGKSSGNS SSSLGEMVSG TFRATPTSTA 200
    KQKQKVTEHI PPYDVVPSMR PVVLVGPSLK GYEVTDMMQK ALFDFLKHRF 250
    DGRISITRVT ADISLAKRSV LNNPSKRAII ERSNTRSSLA EVQSEIERIF 300
    ELARSLQLVV LDADTINHPA QLIKTSLAPI IVHVKVSSPK VLQRLIKSRG 350
    KSQSKHLNVQ LVAADKLAQC PPEMFDVILD ENQLEDACEH LGEYLEAYWR 400
    ATHTTSSTPM TPLLGRNLGS TALSPYPTAI SGLQSQRMRH SNHSTENSPI 450
    ERRSLMTSDE NYHNERARKS RNRLSSSSQH SRDHYPLVEE DYPDSYQDTY 500
    KPHRNRGSPG GYSHDSRHRL 520
    Length:520
    Mass (Da):58,169
    Last modified:February 6, 2007 - v2
    Checksum:i21025FA9782347FA
    GO
    Isoform 2 (identifier: O00305-2) [UniParc]FASTAAdd to Basket

    Also known as: 4a

    The sequence of this isoform differs from the canonical sequence as follows:
         1-49: MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQ → MYDNLYLHGIEDSEA

    Show »
    Length:486
    Mass (Da):54,707
    Checksum:i5E8F03EA98A88597
    GO
    Isoform 3 (identifier: O00305-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-21: MSSSSYAKNGTADGPHSPTSQ → MDV

    Note: No experimental confirmation available.

    Show »
    Length:502
    Mass (Da):56,422
    Checksum:i24BA6BA3A89A46BB
    GO
    Isoform 4 (identifier: O00305-4) [UniParc]FASTAAdd to Basket

    Also known as: 4d

    The sequence of this isoform differs from the canonical sequence as follows:
         373-434: Missing.

    Note: Unable to interact with the alpha-1 subunit.

    Show »
    Length:458
    Mass (Da):51,331
    Checksum:i4AC560044A3BA110
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti245 – 2451F → S in AAB53333. (PubMed:9254841)Curated
    Sequence conflicti245 – 2451F → S in AAL14351. (PubMed:11880487)Curated
    Sequence conflicti311 – 3111L → V in AAL14351. (PubMed:11880487)Curated
    Sequence conflicti441 – 4411S → T in AAL14351. (PubMed:11880487)Curated
    Isoform 2 (identifier: O00305-2)
    Sequence conflicti12 – 121D → N in AAL14351. (PubMed:11880487)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti104 – 1041C → F in EA5; associated with susceptibility to EIG9. 1 Publication
    Corresponds to variant rs1805031 [ dbSNP | Ensembl ].
    VAR_013669

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 4949MSSSS…FILRQ → MYDNLYLHGIEDSEA in isoform 2. 2 PublicationsVSP_000635Add
    BLAST
    Alternative sequencei1 – 2121MSSSS…SPTSQ → MDV in isoform 3. 1 PublicationVSP_043192Add
    BLAST
    Alternative sequencei373 – 43462Missing in isoform 4. 1 PublicationVSP_043193Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U95020 mRNA. Translation: AAB53333.1.
    AY054985 mRNA. Translation: AAL14351.1.
    AB302276 mRNA. Translation: BAF73808.1.
    AK290049 mRNA. Translation: BAF82738.1.
    AK294398 mRNA. Translation: BAG57651.1.
    AK316045 mRNA. Translation: BAH14416.1.
    AC068547 Genomic DNA. No translation available.
    AC079790 Genomic DNA. No translation available.
    AC097448 Genomic DNA. No translation available.
    CH471058 Genomic DNA. Translation: EAX11494.1.
    BC075049 mRNA. Translation: AAH75049.1.
    AF038852 mRNA. Translation: AAC24206.1.
    CCDSiCCDS46426.1. [O00305-1]
    CCDS46427.1. [O00305-3]
    CCDS46428.1. [O00305-2]
    CCDS54409.1. [O00305-4]
    RefSeqiNP_000717.2. NM_000726.3. [O00305-1]
    NP_001005746.1. NM_001005746.2. [O00305-3]
    NP_001005747.1. NM_001005747.2. [O00305-2]
    NP_001139270.1. NM_001145798.1. [O00305-4]
    UniGeneiHs.120725.

    Genome annotation databases

    EnsembliENST00000201943; ENSP00000201943; ENSG00000182389. [O00305-4]
    ENST00000427385; ENSP00000410978; ENSG00000182389. [O00305-3]
    ENST00000534999; ENSP00000443893; ENSG00000182389. [O00305-2]
    ENST00000539935; ENSP00000438949; ENSG00000182389. [O00305-1]
    GeneIDi785.
    KEGGihsa:785.
    UCSCiuc002txy.3. human. [O00305-2]
    uc002txz.3. human. [O00305-3]
    uc002tya.3. human. [O00305-1]
    uc010fnz.3. human. [O00305-4]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U95020 mRNA. Translation: AAB53333.1 .
    AY054985 mRNA. Translation: AAL14351.1 .
    AB302276 mRNA. Translation: BAF73808.1 .
    AK290049 mRNA. Translation: BAF82738.1 .
    AK294398 mRNA. Translation: BAG57651.1 .
    AK316045 mRNA. Translation: BAH14416.1 .
    AC068547 Genomic DNA. No translation available.
    AC079790 Genomic DNA. No translation available.
    AC097448 Genomic DNA. No translation available.
    CH471058 Genomic DNA. Translation: EAX11494.1 .
    BC075049 mRNA. Translation: AAH75049.1 .
    AF038852 mRNA. Translation: AAC24206.1 .
    CCDSi CCDS46426.1. [O00305-1 ]
    CCDS46427.1. [O00305-3 ]
    CCDS46428.1. [O00305-2 ]
    CCDS54409.1. [O00305-4 ]
    RefSeqi NP_000717.2. NM_000726.3. [O00305-1 ]
    NP_001005746.1. NM_001005746.2. [O00305-3 ]
    NP_001005747.1. NM_001005747.2. [O00305-2 ]
    NP_001139270.1. NM_001145798.1. [O00305-4 ]
    UniGenei Hs.120725.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1VYV X-ray 3.00 A/B 254-408 [» ]
    2D46 NMR - A 50-92 [» ]
    ProteinModelPortali O00305.
    SMRi O00305. Positions 50-403.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107239. 6 interactions.
    IntActi O00305. 7 interactions.
    MINTi MINT-1418672.
    STRINGi 9606.ENSP00000343563.

    Chemistry

    ChEMBLi CHEMBL2363032.
    DrugBanki DB00661. Verapamil.

    Protein family/group databases

    TCDBi 8.A.22.1.4. the ca(2+) channel auxiliary subunit types 1-4 (cca-) family.

    PTM databases

    PhosphoSitei O00305.

    Proteomic databases

    PaxDbi O00305.
    PRIDEi O00305.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000201943 ; ENSP00000201943 ; ENSG00000182389 . [O00305-4 ]
    ENST00000427385 ; ENSP00000410978 ; ENSG00000182389 . [O00305-3 ]
    ENST00000534999 ; ENSP00000443893 ; ENSG00000182389 . [O00305-2 ]
    ENST00000539935 ; ENSP00000438949 ; ENSG00000182389 . [O00305-1 ]
    GeneIDi 785.
    KEGGi hsa:785.
    UCSCi uc002txy.3. human. [O00305-2 ]
    uc002txz.3. human. [O00305-3 ]
    uc002tya.3. human. [O00305-1 ]
    uc010fnz.3. human. [O00305-4 ]

    Organism-specific databases

    CTDi 785.
    GeneCardsi GC02M152659.
    HGNCi HGNC:1404. CACNB4.
    HPAi HPA015601.
    MIMi 601949. gene.
    607682. phenotype.
    613855. phenotype.
    neXtProti NX_O00305.
    Orphaneti 211067. Episodic ataxia type 5.
    307. Juvenile myoclonic epilepsy.
    PharmGKBi PA26014.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG326500.
    HOGENOMi HOG000230979.
    HOVERGENi HBG050765.
    InParanoidi O00305.
    KOi K04865.
    OMAi SYAKNGT.
    OrthoDBi EOG7966G4.
    PhylomeDBi O00305.
    TreeFami TF316195.

    Enzyme and pathway databases

    Reactomei REACT_13606. Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels.
    REACT_18312. NCAM1 interactions.

    Miscellaneous databases

    ChiTaRSi CACNB4. human.
    EvolutionaryTracei O00305.
    GeneWikii CACNB4.
    GenomeRNAii 785.
    NextBioi 3194.
    PROi O00305.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00305.
    Bgeei O00305.
    CleanExi HS_CACNB4.
    Genevestigatori O00305.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR008145. GK/Ca_channel_bsu.
    IPR027417. P-loop_NTPase.
    IPR001452. SH3_domain.
    IPR000584. VDCC_L_bsu.
    [Graphical view ]
    PANTHERi PTHR11824. PTHR11824. 1 hit.
    Pfami PF00625. Guanylate_kin. 1 hit.
    PF12052. VGCC_beta4Aa_N. 1 hit.
    [Graphical view ]
    PRINTSi PR01626. LCACHANNELB.
    SMARTi SM00072. GuKc. 1 hit.
    SM00326. SH3. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50044. SSF50044. 1 hit.
    SSF52540. SSF52540. 1 hit.
    PROSITEi PS50002. SH3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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., Williams M.E., Harpold M.M., Nargeot J., Lory P.
      Hum. Genet. 100:151-154(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. "Alternative splicing of the beta 4 subunit has alpha 1 subunit subtype-specific effects on Ca2+ channel gating."
      Helton T.D., Horne W.A.
      J. Neurosci. 22:1573-1582(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING.
      Tissue: Spinal cord.
    3. "The GK domain of the voltage-dependent calcium channel beta subunit is essential for binding to the alpha subunit."
      Kobayashi T., Yamada Y., Fukao M., Shiratori K., Tsutsuura M., Tanimoto K., Tohse N.
      Biochem. Biophys. Res. Commun. 360:679-683(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
      Tissue: Brain.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
      Tissue: Amygdala and Hippocampus.
    5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    8. "Calcium channel beta4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic."
      Escayg A., Jones J.M., Kearney J.A., Hitchcock P.F., Meisler M.H.
      Genomics 50:14-22(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 9-520 (ISOFORM 1).
    9. "Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia."
      Escayg A., De Waard M., Lee D.D., Bichet D., Wolf P., Mayer T., Johnston J., Baloh R., Sander T., Meisler M.H.
      Am. J. Hum. Genet. 66:1531-1539(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN EJM6 AND EIG9, VARIANT EA5 PHE-104.
    10. "Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening."
      Voss M., Lettau M., Janssen O.
      BMC Immunol. 10:53-53(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH FASLG.

    Entry informationi

    Entry nameiCACB4_HUMAN
    AccessioniPrimary (citable) accession number: O00305
    Secondary accession number(s): A7BJ74
    , A8K1Y4, B4DG40, O60515, Q6B000, Q96L40
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: February 6, 2007
    Last modified: October 1, 2014
    This is version 155 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3