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Q02641

- CACB1_HUMAN

UniProt

Q02641 - CACB1_HUMAN

Protein

Voltage-dependent L-type calcium channel subunit beta-1

Gene

CACNB1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 150 (01 Oct 2014)
      Sequence version 3 (02 May 2002)
      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. high voltage-gated calcium channel activity Source: Ensembl
    2. voltage-gated calcium channel activity Source: ProtInc

    GO - Biological processi

    1. axon guidance Source: Reactome
    2. protein targeting to membrane Source: Ensembl
    3. 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.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Voltage-dependent L-type calcium channel subunit beta-1
    Short name:
    CAB1
    Alternative name(s):
    Calcium channel voltage-dependent subunit beta 1
    Gene namesi
    Name:CACNB1
    Synonyms:CACNLB1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:1401. CACNB1.

    Subcellular locationi

    GO - Cellular componenti

    1. sarcoplasmic reticulum Source: Ensembl
    2. T-tubule Source: Ensembl
    3. voltage-gated calcium channel complex Source: ProtInc

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA87.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 598598Voltage-dependent L-type calcium channel subunit beta-1PRO_0000144046Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei499 – 4991PhosphothreonineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ02641.
    PRIDEiQ02641.

    PTM databases

    PhosphoSiteiQ02641.

    Expressioni

    Tissue specificityi

    Isoform 1 and isoform 3 are expressed in brain, heart, spleen, central nervous system and neuroblastoma cells. Isoform 2 is expressed in skeletal muscle.1 Publication

    Gene expression databases

    BgeeiQ02641.
    CleanExiHS_CACNB1.
    GenevestigatoriQ02641.

    Organism-specific databases

    HPAiCAB009779.
    HPA023343.

    Interactioni

    Subunit structurei

    The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with JSRP1. Interacts with RYR1 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi107236. 5 interactions.
    IntActiQ02641. 2 interactions.
    MINTiMINT-2857287.
    STRINGi9606.ENSP00000377840.

    Structurei

    3D structure databases

    ProteinModelPortaliQ02641.
    SMRiQ02641. Positions 58-417.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini100 – 16162SH3PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 SH3 domain.PROSITE-ProRule annotation

    Keywords - Domaini

    SH3 domain

    Phylogenomic databases

    eggNOGiNOG326500.
    HOVERGENiHBG050765.
    KOiK04862.
    OMAiVSNLQVQ.
    OrthoDBiEOG7966G4.
    PhylomeDBiQ02641.
    TreeFamiTF316195.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR008145. GK/Ca_channel_bsu.
    IPR027417. P-loop_NTPase.
    IPR001452. SH3_domain.
    IPR005443. VDCC_L_b1su.
    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.
    PR01627. LCACHANNELB1.
    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 (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q02641-1) [UniParc]FASTAAdd to Basket

    Also known as: Beta-1b2, BetaA, Beta-1B, Beta1-2

    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

    MVQKTSMSRG PYPPSQEIPM EVFDPSPQGK YSKRKGRFKR SDGSTSSDTT    50
    SNSFVRQGSA ESYTSRPSDS DVSLEEDREA LRKEAERQAL AQLEKAKTKP 100
    VAFAVRTNVG YNPSPGDEVP VQGVAITFEP KDFLHIKEKY NNDWWIGRLV 150
    KEGCEVGFIP SPVKLDSLRL LQEQKLRQNR LGSSKSGDNS SSSLGDVVTG 200
    TRRPTPPASA KQKQKSTEHV PPYDVVPSMR PIILVGPSLK GYEVTDMMQK 250
    ALFDFLKHRF DGRISITRVT ADISLAKRSV LNNPSKHIII ERSNTRSSLA 300
    EVQSEIERIF ELARTLQLVA LDADTINHPA QLSKTSLAPI IVYIKITSPK 350
    VLQRLIKSRG KSQSKHLNVQ IAASEKLAQC PPEMFDIILD ENQLEDACEH 400
    LAEYLEAYWK ATHPPSSTPP NPLLNRTMAT AALAASPAPV SNLQGPYLAS 450
    GDQPLERATG EHASMHEYPG ELGQPPGLYP SSHPPGRAGT LRALSRQDTF 500
    DADTPGSRNS AYTELGDSCV DMETDPSEGP GLGDPAGGGT PPARQGSWED 550
    EEEDYEEELT DNRNRGRNKA RYCAEGGGPV LGRNKNELEG WGRGVYIR 598
    Length:598
    Mass (Da):65,714
    Last modified:May 2, 2002 - v3
    Checksum:i44FE4E3BA6F016FD
    GO
    Isoform 2 (identifier: Q02641-2) [UniParc]FASTAAdd to Basket

    Also known as: Beta-1M, BetaC, Beta-1a

    The sequence of this isoform differs from the canonical sequence as follows:
         210-216: AKQKQKS → GNEMTNLAFELDPLELEEEEAELGEQSGSAKTSVSSVTTPPPHGKRIPFFKK
         445-478: GPYLASGDQPLERATGEHASMHEYPGELGQPPGL → VQVLTSLRRNLGFWGGLESSQRGSVVPQEQEHAM
         479-598: Missing.

    Show »
    Length:523
    Mass (Da):57,864
    Checksum:i9F8B7C748A65087C
    GO
    Isoform 3 (identifier: Q02641-3) [UniParc]FASTAAdd to Basket

    Also known as: Beta-1b1, BetaB, Beta-1c, Beta1-3

    The sequence of this isoform differs from the canonical sequence as follows:
         445-478: GPYLASGDQPLERATGEHASMHEYPGELGQPPGL → VQVLTSLRRNLGFWGGLESSQRGSVVPQEQEHAM
         479-598: Missing.

    Show »
    Length:478
    Mass (Da):53,006
    Checksum:i1D0A53AE67443655
    GO

    Sequence cautioni

    The sequence CAA79825.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti5 – 62TS → SG in AAA36167. (PubMed:7916667)Curated
    Sequence conflicti21 – 211E → G in AAA51894. (PubMed:1309651)Curated
    Sequence conflicti28 – 281Missing in AAA36168. (PubMed:7916667)Curated
    Sequence conflicti28 – 281Missing in AAA36169. (PubMed:7916667)Curated
    Sequence conflicti29 – 291G → R in AAA36167. (PubMed:7916667)Curated
    Sequence conflicti29 – 291G → R in AAA36168. (PubMed:7916667)Curated
    Sequence conflicti29 – 291G → R in AAA36169. (PubMed:7916667)Curated
    Sequence conflicti135 – 1351H → D in AAA36167. (PubMed:7916667)Curated
    Sequence conflicti175 – 1762KL → TV in AAA36167. (PubMed:7916667)Curated
    Sequence conflicti182 – 1821G → S in AAA36167. (PubMed:7916667)Curated
    Sequence conflicti217 – 2171T → S in AAA36167. (PubMed:7916667)Curated
    Sequence conflicti264 – 2641I → T in AAH37311. (PubMed:15489334)Curated
    Sequence conflicti293 – 2964SNTR → LQHT in AAA36167. (PubMed:7916667)Curated
    Sequence conflicti344 – 3441I → L in AAA36167. (PubMed:7916667)Curated
    Sequence conflicti381 – 3811P → H in AAH37311. (PubMed:15489334)Curated
    Sequence conflicti428 – 4281M → I in AAA36167. (PubMed:7916667)Curated
    Sequence conflicti434 – 4352AA → RR in AAA35631. (PubMed:1385409)Curated
    Sequence conflicti434 – 4352AA → RR in AAA35632. (PubMed:1385409)Curated
    Sequence conflicti434 – 4352AA → RR in AAA35633. (PubMed:1385409)Curated
    Sequence conflicti434 – 4352AA → RR in AAB58779. (PubMed:10624822)Curated
    Sequence conflicti434 – 4352AA → RR in AAB58780. (PubMed:10624822)Curated
    Sequence conflicti434 – 4352AA → RR in AAB58781. (PubMed:10624822)Curated
    Sequence conflicti456 – 4561E → D in AAA36167. (PubMed:7916667)Curated
    Sequence conflicti465 – 4651M → V in AAA36167. (PubMed:7916667)Curated
    Sequence conflicti482 – 4821S → N in AAA36167. (PubMed:7916667)Curated
    Sequence conflicti492 – 4921R → W in AAA36167. (PubMed:7916667)Curated
    Sequence conflicti515 – 5151L → P in AAA36167. (PubMed:7916667)Curated
    Sequence conflicti532 – 5321L → P in AAA36167. (PubMed:7916667)Curated
    Sequence conflicti539 – 5413GTP → A in AAA35633. (PubMed:1385409)Curated
    Sequence conflicti539 – 5413GTP → A in AAB58781. (PubMed:10624822)Curated
    Sequence conflicti550 – 5501Missing in AAA36167. (PubMed:7916667)Curated
    Sequence conflicti559 – 5591L → M in AAA36167. (PubMed:7916667)Curated
    Sequence conflicti573 – 5742CA → WP in AAA35633. (PubMed:1385409)Curated
    Sequence conflicti573 – 5742CA → WP in AAB58781. (PubMed:10624822)Curated
    Sequence conflicti593 – 5931R → Q in AAA36167. (PubMed:7916667)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti339 – 3391P → L in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036349

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei210 – 2167AKQKQKS → GNEMTNLAFELDPLELEEEE AELGEQSGSAKTSVSSVTTP PPHGKRIPFFKK in isoform 2. 2 PublicationsVSP_000623
    Alternative sequencei445 – 47834GPYLA…QPPGL → VQVLTSLRRNLGFWGGLESS QRGSVVPQEQEHAM in isoform 2 and isoform 3. 4 PublicationsVSP_000624Add
    BLAST
    Alternative sequencei479 – 598120Missing in isoform 2 and isoform 3. 4 PublicationsVSP_000625Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M92303 mRNA. Translation: AAA35633.1.
    M92301 mRNA. Translation: AAA35631.1.
    M92302 mRNA. Translation: AAA35632.1.
    M76560 mRNA. Translation: AAA51894.1.
    L06110 mRNA. Translation: AAA36167.1.
    L06111 mRNA. Translation: AAA36168.1.
    L06112 mRNA. Translation: AAA36169.1.
    AB054985 mRNA. Translation: BAB21444.1.
    U86960
    , U86952, U86953, U86954, U86955, U86956, U86957, U86958, U86959 Genomic DNA. Translation: AAB58779.1.
    U86960
    , U86952, U86953, U86954, U86955, U86956, U86957, U86958, U86959 Genomic DNA. Translation: AAB58780.1.
    U86961
    , U86952, U86953, U86954, U86955, U86956, U86957, U86958, U86959, U86960 Genomic DNA. Translation: AAB58781.1. Sequence problems.
    AK289729 mRNA. Translation: BAF82418.1.
    CH471152 Genomic DNA. Translation: EAW60562.1.
    BC037311 mRNA. Translation: AAH37311.2.
    Z21725 Genomic DNA. Translation: CAA79824.1.
    Z21726 Genomic DNA. Translation: CAA79825.1. Different initiation.
    CCDSiCCDS11334.1. [Q02641-2]
    CCDS42311.1. [Q02641-1]
    CCDS45665.1. [Q02641-3]
    PIRiA44461.
    B44461.
    C44461.
    I38002.
    I52859.
    I65766.
    I65767.
    JH0566.
    RefSeqiNP_000714.3. NM_000723.4. [Q02641-1]
    NP_954855.1. NM_199247.2. [Q02641-2]
    NP_954856.1. NM_199248.2. [Q02641-3]
    UniGeneiHs.635.

    Genome annotation databases

    EnsembliENST00000344140; ENSP00000345461; ENSG00000067191. [Q02641-2]
    ENST00000394303; ENSP00000377840; ENSG00000067191. [Q02641-1]
    ENST00000394310; ENSP00000377847; ENSG00000067191. [Q02641-3]
    GeneIDi782.
    KEGGihsa:782.
    UCSCiuc002hrl.1. human. [Q02641-1]
    uc002hrn.3. human. [Q02641-3]
    uc002hro.3. human. [Q02641-2]

    Polymorphism databases

    DMDMi20455481.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M92303 mRNA. Translation: AAA35633.1 .
    M92301 mRNA. Translation: AAA35631.1 .
    M92302 mRNA. Translation: AAA35632.1 .
    M76560 mRNA. Translation: AAA51894.1 .
    L06110 mRNA. Translation: AAA36167.1 .
    L06111 mRNA. Translation: AAA36168.1 .
    L06112 mRNA. Translation: AAA36169.1 .
    AB054985 mRNA. Translation: BAB21444.1 .
    U86960
    , U86952 , U86953 , U86954 , U86955 , U86956 , U86957 , U86958 , U86959 Genomic DNA. Translation: AAB58779.1 .
    U86960
    , U86952 , U86953 , U86954 , U86955 , U86956 , U86957 , U86958 , U86959 Genomic DNA. Translation: AAB58780.1 .
    U86961
    , U86952 , U86953 , U86954 , U86955 , U86956 , U86957 , U86958 , U86959 , U86960 Genomic DNA. Translation: AAB58781.1 . Sequence problems.
    AK289729 mRNA. Translation: BAF82418.1 .
    CH471152 Genomic DNA. Translation: EAW60562.1 .
    BC037311 mRNA. Translation: AAH37311.2 .
    Z21725 Genomic DNA. Translation: CAA79824.1 .
    Z21726 Genomic DNA. Translation: CAA79825.1 . Different initiation.
    CCDSi CCDS11334.1. [Q02641-2 ]
    CCDS42311.1. [Q02641-1 ]
    CCDS45665.1. [Q02641-3 ]
    PIRi A44461.
    B44461.
    C44461.
    I38002.
    I52859.
    I65766.
    I65767.
    JH0566.
    RefSeqi NP_000714.3. NM_000723.4. [Q02641-1 ]
    NP_954855.1. NM_199247.2. [Q02641-2 ]
    NP_954856.1. NM_199248.2. [Q02641-3 ]
    UniGenei Hs.635.

    3D structure databases

    ProteinModelPortali Q02641.
    SMRi Q02641. Positions 58-417.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107236. 5 interactions.
    IntActi Q02641. 2 interactions.
    MINTi MINT-2857287.
    STRINGi 9606.ENSP00000377840.

    Chemistry

    ChEMBLi CHEMBL2363032.
    DrugBanki DB00308. Ibutilide.
    DB00653. Magnesium Sulfate.
    DB01388. Mibefradil.
    DB00661. Verapamil.

    PTM databases

    PhosphoSitei Q02641.

    Polymorphism databases

    DMDMi 20455481.

    Proteomic databases

    PaxDbi Q02641.
    PRIDEi Q02641.

    Protocols and materials databases

    DNASUi 782.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000344140 ; ENSP00000345461 ; ENSG00000067191 . [Q02641-2 ]
    ENST00000394303 ; ENSP00000377840 ; ENSG00000067191 . [Q02641-1 ]
    ENST00000394310 ; ENSP00000377847 ; ENSG00000067191 . [Q02641-3 ]
    GeneIDi 782.
    KEGGi hsa:782.
    UCSCi uc002hrl.1. human. [Q02641-1 ]
    uc002hrn.3. human. [Q02641-3 ]
    uc002hro.3. human. [Q02641-2 ]

    Organism-specific databases

    CTDi 782.
    GeneCardsi GC17M037329.
    HGNCi HGNC:1401. CACNB1.
    HPAi CAB009779.
    HPA023343.
    MIMi 114207. gene.
    neXtProti NX_Q02641.
    PharmGKBi PA87.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG326500.
    HOVERGENi HBG050765.
    KOi K04862.
    OMAi VSNLQVQ.
    OrthoDBi EOG7966G4.
    PhylomeDBi Q02641.
    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

    GeneWikii CACNB1.
    GenomeRNAii 782.
    NextBioi 3164.
    PROi Q02641.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q02641.
    CleanExi HS_CACNB1.
    Genevestigatori Q02641.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR008145. GK/Ca_channel_bsu.
    IPR027417. P-loop_NTPase.
    IPR001452. SH3_domain.
    IPR005443. VDCC_L_b1su.
    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.
    PR01627. LCACHANNELB1.
    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. "Skeletal muscle and brain isoforms of a beta-subunit of human voltage-dependent calcium channels are encoded by a single gene."
      Powers P.A., Liu S., Hogan K., Gregg R.G.
      J. Biol. Chem. 267:22967-22972(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3).
      Tissue: Hippocampus and Skeletal muscle.
    2. "Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype."
      Williams M.E., Feldman D.H., McCue A.F., Brenner R., Velicelebi G., Ellis S.B., Harpold M.M.
      Neuron 8:71-84(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    3. "Molecular cloning of three isoforms of the L-type voltage-dependent calcium channel beta subunit from normal human heart."
      Collin T., Wang J., Nargeot J., Schwartz A.
      Circ. Res. 72:1337-1344(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3).
      Tissue: Heart.
    4. "Cyclic AMP-dependent modulation of N- and Q-type Ca2+ channels expressed in Xenopus oocytes."
      Fukuda K., Kaneko S., Yada N., Kikuwaka M., Akaike A., Satoh M.
      Neurosci. Lett. 217:13-16(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain cortex.
    5. "Structure and alternative splicing of the gene encoding the human beta1 subunit of voltage dependent calcium channels."
      Hogan K., Greg R.G., Powers P.A.
      Neurosci. Lett. 277:111-114(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 2 AND 3).
    6. "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] (ISOFORM 1).
      Tissue: Brain.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "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: Hippocampus.
    9. "Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility."
      Iles D.E., Segers B., Sengers R.C.A., Monsieurs K., Heytens L., Halsall P.J., Hopkins P.M., Ellis F.R., Hall-Curran J.L., Stewart A.D., Wieringa B.
      Hum. Mol. Genet. 2:863-868(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 146-209.
    10. "Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly."
      Brust P.F., Simerson S., McCue A.F., Deal C.R., Schoonmaker S., Williams M.E., Velicelebi G., Johnson E.C., Harpold M.M., Ellis S.B.
      Neuropharmacology 32:1089-1102(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 445-598 (ISOFORMS 1 AND 3), TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
    11. Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-339.

    Entry informationi

    Entry nameiCACB1_HUMAN
    AccessioniPrimary (citable) accession number: Q02641
    Secondary accession number(s): A8K114
    , O15331, Q02639, Q02640, Q8N3X9, Q9C085, Q9UD79
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: May 2, 2002
    Last modified: October 1, 2014
    This is version 150 of the entry and version 3 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3