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Database: UniProt
Entry: B5TYJ1_HUMAN
LinkDB: B5TYJ1_HUMAN
Original site: B5TYJ1_HUMAN 
ID   B5TYJ1_HUMAN            Unreviewed;      2263 AA.
AC   B5TYJ1;
DT   04-NOV-2008, integrated into UniProtKB/TrEMBL.
DT   04-NOV-2008, sequence version 1.
DT   27-SEP-2017, entry version 72.
DE   RecName: Full=Voltage-dependent P/Q-type calcium channel subunit alpha {ECO:0000256|RuleBase:RU003808};
GN   Name=CACNA1A {ECO:0000313|EMBL:ACH89974.1,
GN   ECO:0000313|Ensembl:ENSP00000490578};
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606 {ECO:0000313|EMBL:ACH89974.1};
RN   [1] {ECO:0000313|EMBL:ACH89974.1}
RP   NUCLEOTIDE SEQUENCE.
RC   TISSUE=Cerebellum {ECO:0000313|EMBL:ACH89974.1};
RX   PubMed=11742003; DOI=10.1074/jbc.M110948200;
RA   Wappl E., Koschak A., Poteser M., Sinnegger M.J., Walter D.,
RA   Eberhart A., Groschner K., Glossmann H., Kraus R.L., Grabner M.,
RA   Striessnig J.;
RT   "Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense
RT   mutations associated with episodic ataxia type 2 and progressive
RT   ataxia.";
RL   J. Biol. Chem. 277:6960-6966(2002).
RN   [2] {ECO:0000313|Ensembl:ENSP00000490578, ECO:0000313|Proteomes:UP000005640}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15057824; DOI=10.1038/nature02399;
RA   Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
RA   Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
RA   Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
RA   Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
RA   Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
RA   Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
RA   Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
RA   Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
RA   Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
RA   Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
RA   Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
RA   Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
RA   Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
RA   Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
RA   Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
RA   Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA   Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA   Rubin E.M., Lucas S.M.;
RT   "The DNA sequence and biology of human chromosome 19.";
RL   Nature 428:529-535(2004).
RN   [3] {ECO:0000313|EMBL:ACH89974.1}
RP   NUCLEOTIDE SEQUENCE.
RC   TISSUE=Cerebellum {ECO:0000313|EMBL:ACH89974.1};
RA   Gebhart M., Sinnegger-Brauns M.J., Grabner M.;
RL   Submitted (AUG-2008) to the EMBL/GenBank/DDBJ databases.
RN   [4] {ECO:0000313|Ensembl:ENSP00000490578}
RP   IDENTIFICATION.
RG   Ensembl;
RL   Submitted (JUL-2016) to UniProtKB.
CC   -!- FUNCTION: Voltage-sensitive calcium channels (VSCC) mediate the
CC       entry of calcium ions into excitable cells and are also involved
CC       in a variety of calcium-dependent processes, including muscle
CC       contraction, hormone or neurotransmitter release, gene expression,
CC       cell motility, cell division and cell death. The isoform alpha-1A
CC       gives rise to P and/or Q-type calcium currents. P/Q-type calcium
CC       channels belong to the 'high-voltage activated' (HVA) group and
CC       are blocked by the funnel toxin (Ftx) and by the omega-agatoxin-
CC       IVA (omega-Aga-IVA). They are however insensitive to
CC       dihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA).
CC       {ECO:0000256|RuleBase:RU003808}.
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000256|RuleBase:RU003808};
CC       Multi-pass membrane protein {ECO:0000256|RuleBase:RU003808}.
CC   -!- SIMILARITY: Belongs to the calcium channel alpha-1 subunit
CC       (TC 1.A.1.11) family. {ECO:0000256|RuleBase:RU003808}.
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DR   EMBL; AC005305; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC005513; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC011446; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC022436; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC026805; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC093062; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC098781; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC124224; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; KF456505; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; FJ040507; ACH89974.1; -; mRNA.
DR   RefSeq; NP_001167551.1; NM_001174080.1.
DR   UniGene; Hs.501632; -.
DR   MaxQB; B5TYJ1; -.
DR   PaxDb; B5TYJ1; -.
DR   PRIDE; B5TYJ1; -.
DR   DNASU; 773; -.
DR   Ensembl; ENST00000636549; ENSP00000490578; ENSG00000141837.
DR   GeneID; 773; -.
DR   CTD; 773; -.
DR   HGNC; HGNC:1388; CACNA1A.
DR   OpenTargets; ENSG00000141837; -.
DR   PharmGKB; PA26007; -.
DR   eggNOG; KOG2301; Eukaryota.
DR   eggNOG; ENOG410XNP6; LUCA.
DR   GeneTree; ENSGT00830000128247; -.
DR   HOVERGEN; HBG050763; -.
DR   ChiTaRS; CACNA1A; human.
DR   GenomeRNAi; 773; -.
DR   Proteomes; UP000005640; Chromosome 19.
DR   ExpressionAtlas; B5TYJ1; baseline and differential.
DR   Genevisible; B5TYJ1; HS.
DR   GO; GO:0005891; C:voltage-gated calcium channel complex; IEA:InterPro.
DR   GO; GO:0005245; F:voltage-gated calcium channel activity; IEA:InterPro.
DR   InterPro; IPR005448; CACNA1A.
DR   InterPro; IPR031649; GPHH_dom.
DR   InterPro; IPR005821; Ion_trans_dom.
DR   InterPro; IPR014873; VDCC_a1su_IQ.
DR   InterPro; IPR002077; VDCCAlpha1.
DR   PANTHER; PTHR10037:SF249; PTHR10037:SF249; 1.
DR   Pfam; PF08763; Ca_chan_IQ; 1.
DR   Pfam; PF16905; GPHH; 1.
DR   Pfam; PF00520; Ion_trans; 4.
DR   PRINTS; PR00167; CACHANNEL.
DR   PRINTS; PR01632; PQVDCCALPHA1.
DR   SMART; SM01062; Ca_chan_IQ; 1.
PE   1: Evidence at protein level;
KW   Calcium {ECO:0000256|RuleBase:RU003808};
KW   Calcium channel {ECO:0000256|RuleBase:RU003808};
KW   Calcium transport {ECO:0000256|RuleBase:RU003808};
KW   Coiled coil {ECO:0000256|SAM:Coils};
KW   Complete proteome {ECO:0000313|Proteomes:UP000005640};
KW   Ion channel {ECO:0000256|RuleBase:RU003808};
KW   Ion transport {ECO:0000256|RuleBase:RU003808};
KW   Membrane {ECO:0000256|SAM:Phobius};
KW   Proteomics identification {ECO:0000213|PeptideAtlas:B5TYJ1};
KW   Reference proteome {ECO:0000313|Proteomes:UP000005640};
KW   Transmembrane {ECO:0000256|SAM:Phobius};
KW   Transmembrane helix {ECO:0000256|SAM:Phobius};
KW   Transport {ECO:0000256|RuleBase:RU003808};
KW   Voltage-gated channel {ECO:0000256|RuleBase:RU003808}.
FT   TRANSMEM    102    119       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM    139    159       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM    222    245       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM    337    359       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM    488    507       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM    519    539       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM    614    636       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM    690    714       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM   1243   1262       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM   1282   1303       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM   1315   1332       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM   1377   1399       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM   1489   1514       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM   1570   1588       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM   1600   1623       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM   1693   1711       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM   1789   1813       Helical. {ECO:0000256|SAM:Phobius}.
FT   DOMAIN     1950   1984       Ca_chan_IQ. {ECO:0000259|SMART:SM01062}.
FT   COILED      710    746       {ECO:0000256|SAM:Coils}.
SQ   SEQUENCE   2263 AA;  257143 MW;  C331009AE19A1959 CRC64;
     MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA
     LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH
     LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG
     ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF
     AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ
     FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS
     GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA
     LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI
     RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG
     LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL
     RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT
     VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA
     QELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS
     EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR
     AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR
     ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR
     AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR
     EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA
     APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT
     PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE
     EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA
     LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV
     VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI
     LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE
     FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF
     FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW
     QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF
     GILNYFRDAW NIFDFVTVLG SITDILVTEF GNPNNFINLS FLRLFRAARL IKLLRQGYTI
     RILLWTFVQS FKALPYVCLL IAMLFFIYAI IGMQVFGNIG IDVEDEDSDE DEFQITEHNN
     FRTFFQALML LFRSATGEAW HNIMLSCLSG KPCDKNSGIL TRECGNEFAY FYFVSFIFLC
     SFLMLNLFVA VIMDNFEYLT RDSSILGPHH LDEYVRVWAE YDPAAWGRMP YLDMYQMLRH
     MSPPLGLGKK CPARVAYKRL LRMDLPVADD NTVHFNSTLM ALIRTALDIK IAKGGADKQQ
     MDAELRKEMM AIWPNLSQKT LDLLVTPHKS TDLTVGKIYA AMMIMEYYRQ SKAKKLQAMR
     EEQDRTPLMF QRMEPPSPTQ EGGPGQNALP STQLDPGGAL MAHESGLKES PSWVTQRAQE
     MFQKTGTWSP EQGPPTDMPN SQPNSQSVEM REMGRDGYSD SEHYLPMEGQ GRAASMPRLP
     AENQRRRGRP RGNNLSTISD TSPMKRSASV LGPKARRLDD YSLERVPPEE NQRHHQRRRD
     RSHRASERSL GRYTDVDTGL GTDLSMTTQS GDLPSKERDQ ERGRPKDRKH RQHHHHHHHH
     HHPPPPDKDR YAQERPDHGR ARARDQRWSR SPSEGREHMA HRQ
//
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