LOCUS HSU79666 7744 bp mRNA linear HUM 11-JUL-2017
DEFINITION Homo sapiens alpha1A-voltage-dependent calcium channel mRNA,
complete cds.
ACCESSION U79666
VERSION U79666.2
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 7744)
AUTHORS Zhuchenko,O., Bailey,J., Bonnen,P., Ashizawa,T., Stockton,D.W.,
Amos,C., Dobyns,W.B., Subramony,S.H., Zoghbi,H.Y. and Lee,C.C.
TITLE Autosomal dominant cerebellar ataxia (SCA6) associated with small
polyglutamine expansions in the alpha 1A-voltage-dependent calcium
channel
JOURNAL Nat. Genet. 15 (1), 62-69 (1997)
PUBMED 8988170
REFERENCE 2 (bases 1 to 7744)
AUTHORS Lee,C.C. and Bonnen,P.E.
TITLE Direct Submission
JOURNAL Submitted (26-NOV-1996) Molecular & Human Genetics, Baylor College
of Medicine, One Baylor Plaza, Houston, TX 77030, USA
REFERENCE 3 (bases 1 to 7744)
AUTHORS Lee,C.C. and Bonnen,P.E.
TITLE Direct Submission
JOURNAL Submitted (11-JUL-2017) Molecular & Human Genetics, Baylor College
of Medicine, One Baylor Plaza, Houston, TX 77030, USA
REMARK Sequence update by database staff to remove vector contamination
COMMENT On Jul 11, 2017 this sequence version replaced U79666.1.
FEATURES Location/Qualifiers
source 1..7744
/db_xref="H-InvDB:HIT000221545"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="19"
/map="19p13"
CDS 218..7735
/note="splice form BI-1-V1-GGCAG"
/codon_start=1
/product="alpha1A-voltage-dependent calcium channel"
/protein_id="AAB64179.1"
/translation="MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGA
QRMYKQSMAQRARTMALYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEY
MILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFH
KGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKS
IMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEE
PARTCPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCITMEGWTDLLYNSNDASGNT
WNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGY
MEWISKAEEVILAEDETDGEQRHPFDGALRRTTIKKSKTDLLNPEEAEDQLADIASVG
SPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFYWTVLSLVALNTLCVAIVH
YNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVIIGSIFEV
IWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLRNLVVSLLNSMKSIISLLFLLFLF
IVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQG
GVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLAL
QKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSEMRKQNLLASREALYNEM
DPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRAAEPTVDQRLGQQRAE
DFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRESDHHAREGSLEQP
GFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPED
KAERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARREDKERRHRRR
KENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGH
AGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTPENSLI
VTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEEKKE
EEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIALA
AEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIV
VSGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVF
NILIVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREW
KKYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVY
FVVFPFFFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNK
QSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFS
LECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARL
IKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDS
DEDEFQITEHNNFRTFFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGN
EFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPA
ACGRIHYKDMYSLLRVISPPLGLGKKCPHRVACKRLLRMDLPVADDNTVHFNSTLMAL
IRTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYA
AMMIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGG
ALMAHESGLKESPSWVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRD
GYSDSEHYLPMEGQGRAASMPRLPAENQRRRGRPRGNNLSTISDTSPMKRSASVLGPK
ARRLDDYSLERVPPEENQRHHQRRRDRSHRASERSLGRYTDVDTGLGTDLSMTTQSGD
LPSKERDQERGRPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPDHGRARARDQRWSR
SPSEGREHMAHRQGSSSVSGSPAPSTSGTSTPRRGRRQLPQTPSTPRPHVSYSPVIRK
AGGSGPPQQQQQQQQQQQAVARPGRAATSGPRRYPGPTAEPLAGDRPPTGGHSSGRSP
RMERRVPGPARSESPRACRHGGARWPASGPHVSEGPPGPRHHGYYRGSDYDEADGPGS
GGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGPACASPSRHGRRLPNGYYPAHG
LARPRGPGSRKGLHEPYSESDDDWC"
BASE COUNT 1676 a 2406 c 2237 g 1425 t
ORIGIN
1 ggctcggccc gggcagccgc cttctgagcc cccgacccga ggcgccgagc cgccgccgcc
61 cgatgggctg ggccgtggag cgtctccgca gtcgtagctc cagccgccgc gctcccagcc
121 ccggcagcct cagcatcagc ggcggcggcg gcggcggcgg cggcgtcttc cgcatcgttc
181 gccgcagcgt aacccggagc cctttgctct ttgcagaatg gcccgcttcg gagacgagat
241 gccggcccgc tacgggggag gaggctccgg ggcagccgcc ggggtggtcg tgggcagcgg
301 aggcgggcga ggagccgggg gcagccggca gggcgggcag cccggggcgc aaaggatgta
361 caagcagtca atggcgcaga gagcgcggac catggcactc tacaacccca tccccgtccg
421 acagaactgc ctcacggtta accggtctct cttcctcttc agcgaagaca acgtggtgag
481 aaaatacgcc aaaaagatca ccgaatggcc tccctttgaa tatatgattt tagccaccat
541 catagcgaat tgcatcgtcc tcgcactgga gcagcatctg cctgatgatg acaagacccc
601 gatgtctgaa cggctggatg acacagaacc atacttcatt ggaatttttt gtttcgaggc
661 tggaattaaa atcattgccc ttgggtttgc cttccacaaa ggctcctact tgaggaatgg
721 ctggaatgtc atggactttg tggtggtgct aacgggcatc ttggcgacag ttgggacgga
781 gtttgaccta cggacgctga gggcagttcg agtgctgcgg ccgctcaagc tggtgtctgg
841 aatcccaagt ttacaagtcg tcctgaagtc gatcatgaag gcgatgatcc ctttgctgca
901 gatcggcctc ctcctatttt ttgcaatcct tatttttgca atcatagggt tagaatttta
961 tatgggaaaa tttcatacca cctgctttga agaggggaca gatgacattc agggtgagtc
1021 tccggctcca tgtgggacag aagagcccgc ccgcacctgc cccaatggga ccaaatgtca
1081 gccctactgg gaagggccca acaacgggat cactcagttc gacaacatcc tgtttgcagt
1141 gctgactgtt ttccagtgca taaccatgga agggtggact gatctcctct acaatagcaa
1201 cgatgcctca gggaacactt ggaactggtt gtacttcatc cccctcatca tcatcggctc
1261 cttttttatg ctgaaccttg tgctgggtgt gctgtcaggg gagtttgcca aagaaaggga
1321 acgggtggag aaccggcggg cttttctgaa gctgaggcgg caacaacaga ttgaacgtga
1381 gctcaatggg tacatggaat ggatctcaaa agcagaagag gtgatcctcg ccgaggatga
1441 aactgacggg gagcagaggc atccctttga tggagctctg cggagaacca ccataaagaa
1501 aagcaagaca gatttgctca accccgaaga ggctgaggat cagctggctg atatagcctc
1561 tgtgggttct cccttcgccc gagccagcat taaaagtgcc aagctggaga actcgacctt
1621 ttttcacaaa aaggagagga ggatgcgttt ctacatccgc cgcatggtca aaactcaggc
1681 cttctactgg actgtactca gtttggtagc tctcaacacg ctgtgtgttg ctattgttca
1741 ctacaaccag cccgagtggc tctccgactt cctttactat gcagaattca ttttcttagg
1801 actctttatg tccgaaatgt ttataaaaat gtacgggctt gggacgcggc cttacttcca
1861 ctcttccttc aactgctttg actgtggggt tatcattggg agcatcttcg aggtcatctg
1921 ggctgtcata aaacctggca catcctttgg aatcagcgtg ttacgagccc tcaggttatt
1981 gcgtattttc aaagtcacaa agtactgggc atctctcaga aacctggtcg tctctctcct
2041 caactccatg aagtccatca tcagcctgtt gtttctcctt ttcctgttca ttgtcgtctt
2101 cgcccttttg ggaatgcaac tcttcggcgg ccagtttaat ttcgatgaag ggactcctcc
2161 caccaacttc gatacttttc cagcagcaat aatgacggtg tttcagatcc tgacgggcga
2221 agactggaac gaggtcatgt acgacgggat caagtctcag gggggcgtgc agggcggcat
2281 ggtgttctcc atctatttca ttgtactgac gctctttggg aactacaccc tcctgaatgt
2341 gttcttggcc atcgctgtgg acaatctggc caacgcccag gagctcacca aggacgagca
2401 agaggaagaa gaagcagcga accagaaact tgccctacag aaagccaagg aggtggcaga
2461 agtgagtcct ctgtccgcgg ccaacatgtc tatagctgtg aaagagcaac agaagaatca
2521 aaagccagcc aagtccgtgt gggagcagcg gaccagtgag atgcgaaagc agaacttgct
2581 ggccagccgg gaggccctgt ataacgaaat ggacccggac gagcgctgga aggctgccta
2641 cacgcggcac ctgcggccag acatgaagac gcacttggac cggccgctgg tggtggaccc
2701 gcaggagaac cgcaacaaca acaccaacaa gagccgggcg gccgagccca ccgtggacca
2761 gcgcctcggc cagcagcgcg ccgaggactt cctcaggaaa caggcccgct accacgatcg
2821 ggcccgggac cccagcggct cggcgggcct ggacgcacgg aggccctggg cgggaagcca
2881 ggaggccgag ctgagccggg agggacccta cggccgcgag tcggaccacc acgcccggga
2941 gggcagcctg gagcaacccg ggttctggga gggcgaggcc gagcgaggca aggccgggga
3001 cccccaccgg aggcacgtgc accggcaggg gggcagcagg gagagccgca gcgggtcccc
3061 gcgcacgggc gcggacgggg agcatcgacg tcatcgcgcg caccgcaggc ccggggagga
3121 gggtccggag gacaaggcgg agcggagggc gcggcaccgc gagggcagcc ggccggcccg
3181 gggcggcgag ggcgagggcg agggccccga cgggggcgag cgcaggagaa ggcaccggca
3241 tggcgctcca gccacgtacg agggggacgc gcggagggag gacaaggagc ggaggcatcg
3301 gaggaggaaa gagaaccagg gctccggggt ccctgtgtcg ggccccaacc tgtcaaccac
3361 ccggccaatc cagcaggacc tgggccgcca agacccaccc ctggcagagg atattgacaa
3421 catgaagaac aacaagctgg ccaccgcgga gtcggccgct ccccacggca gccttggcca
3481 cgccggcctg ccccagagcc cagccaagat gggaaacagc accgaccccg gccccatgct
3541 ggccatccct gccatggcca ccaaccccca gaacgccgcc agccgccgga cgcccaacaa
3601 cccggggaac ccatccaatc ccggcccccc caagaccccc gagaatagcc ttatcgtcac
3661 caaccccagc ggcacccaga ccaattcagc taagactgcc aggaaacccg accacaccac
3721 agtggacatc cccccagcct gcccaccccc cctcaaccac accgtcgtac aagtgaacaa
3781 aaacgccaac ccagacccac tgccaaaaaa agaggaagag aagaaggagg aggaggaaga
3841 cgaccgtggg gaagacggcc ctaagccaat gcctccctat agctccatgt tcatcctgtc
3901 cacgaccaac ccccttcgcc gcctgtgcca ttacatcctg aacctgcgct actttgagat
3961 gtgcatcctc atggtcattg ccatgagcag catcgccctg gccgccgagg accctgtgca
4021 gcccaacgca cctcggaaca acgtgctgcg atactttgac tacgttttta caggcgtctt
4081 tacctttgag atggtgatca agatgattga cctggggctc gtcctgcatc agggtgccta
4141 cttccgtgac ctctggaata ttctcgactt catagtggtc agtggggccc tggtagcctt
4201 tgccttcact ggcaatagca aaggaaaaga catcaacacg attaaatccc tccgagtcct
4261 ccgggtgcta cgacctctta aaaccatcaa gcggctgcca aagctcaagg ctgtgtttga
4321 ctgtgtggtg aactcactta aaaacgtctt caacatcctc atcgtctaca tgctattcat
4381 gttcatcttc gccgtggtgg ctgtgcagct cttcaagggg aaattcttcc actgcactga
4441 cgagtccaaa gagtttgaga aagattgtcg aggcaaatac ctcctctacg agaagaatga
4501 ggtgaaggcg cgagaccggg agtggaagaa gtatgaattc cattacgaca atgtgctgtg
4561 ggctctgctg accctcttca ccgtgtccac gggagaaggc tggccacagg tcctcaagca
4621 ttcggtggac gccacctttg agaaccaggg ccccagcccc gggtaccgca tggagatgtc
4681 cattttctac gtcgtctact ttgtggtgtt ccccttcttc tttgtcaata tctttgtggc
4741 cttgatcatc atcaccttcc aggagcaagg ggacaagatg atggaggaat acagcctgga
4801 gaaaaatgag agggcctgca ttgatttcgc catcagcgcc aagccgctga cccgacacat
4861 gccgcagaac aagcagagct tccagtaccg catgtggcag ttcgtggtgt ctccgccttt
4921 cgagtacacg atcatggcca tgatcgccct caacaccatc gtgcttatga tgaagttcta
4981 tggggcttct gttgcttatg aaaatgccct gcgggtgttc aacatcgtct tcacctccct
5041 cttctctctg gaatgtgtgc tgaaagtcat ggcttttggg attctgaatt atttccgcga
5101 tgcctggaac atcttcgact ttgtgactgt tctgggcagc atcaccgata tcctcgtgac
5161 tgagtttggg aataacttca tcaacctgag ctttctccgc ctcttccgag ctgcccggct
5221 catcaaactt ctccgtcagg gttacaccat ccgcattctt ctctggacct ttgtgcagtc
5281 cttcaaggcc ctgccttatg tctgtctgct gatcgccatg ctcttcttca tctatgccat
5341 cattgggatg caggtgtttg gtaacattgg catcgacgtg gaggacgagg acagtgatga
5401 agatgagttc caaatcactg agcacaataa cttccggacc ttcttccagg ccctcatgct
5461 tctcttccgg agtgccaccg gggaagcttg gcacaacatc atgctttcct gcctcagcgg
5521 gaaaccgtgt gataagaact ctggcatcct gactcgagag tgtggcaatg aatttgctta
5581 tttttacttt gtttccttca tcttcctctg ctcgtttctg atgctgaatc tctttgtcgc
5641 cgtcatcatg gacaactttg agtacctcac ccgagactcc tccatcctgg gcccccacca
5701 cctggatgag tacgtgcgtg tctgggccga gtatgacccc gcagcttgcg gtcggattca
5761 ttataaggat atgtacagtt tattacgagt aatatctccc cctctcggct taggcaagaa
5821 atgtcctcat agggttgctt gcaagcggct tctgcggatg gacctgcccg tcgcagatga
5881 caacaccgtc cacttcaatt ccaccctcat ggctctgatc cgcacagccc tggacatcaa
5941 gattgccaag ggaggagccg acaaacagca gatggacgct gagctgcgga aggagatgat
6001 ggcgatttgg cccaatctgt cccagaagac gctagacctg ctggtcacac ctcacaagtc
6061 cacggacctc accgtgggga agatctacgc agccatgatg atcatggagt actaccggca
6121 gagcaaggcc aagaagctgc aggccatgcg cgaggagcag gaccggacac ccctcatgtt
6181 ccagcgcatg gagcccccgt ccccaacgca ggaaggggga cctggccaga acgccctccc
6241 ctccacccag ctggacccag gaggagccct gatggctcac gaaagcggcc tcaaggagag
6301 cccgtcctgg gtgacccagc gtgcccagga gatgttccag aagacgggca catggagtcc
6361 ggaacaaggc ccccctaccg acatgcccaa cagccagcct aactctcagt ccgtggagat
6421 gcgagagatg ggcagagatg gctactccga cagcgagcac tacctcccca tggaaggcca
6481 gggccgggct gcctccatgc cccgcctccc tgcagagaac cagaggagaa ggggccggcc
6541 acgtgggaat aacctcagta ccatctcaga caccagcccc atgaagcgtt cagcctccgt
6601 gctgggcccc aaggcccgac gcctggacga ttactcgctg gagcgggtcc cgcccgagga
6661 gaaccagcgg caccaccagc ggcgccgcga ccgcagccac cgcgcctctg agcgctccct
6721 gggccgctac accgatgtgg acacaggctt ggggacagac ctgagcatga ccacccaatc
6781 cggggacctg ccgtcgaagg agcgggacca ggagcggggc cggcccaagg atcggaagca
6841 tcgacagcac caccaccacc accaccacca ccaccatccc ccgccccccg acaaggaccg
6901 ctatgcccag gaacggccgg accacggccg ggcacgggct cgggaccagc gctggtcccg
6961 ctcgcccagc gagggccgag agcacatggc gcaccggcag ggcagtagtt ccgtaagtgg
7021 aagcccagcc ccctcaacat ctggtaccag cactccgcgg cggggccgcc gccagctccc
7081 ccagaccccc tccacccccc ggccacacgt gtcctattcc cctgtgatcc gtaaggccgg
7141 cggctcgggg cccccgcagc agcagcagca gcagcagcag cagcagcagg cggtggccag
7201 gccgggccgg gcggccacca gcggccctcg gaggtaccca ggccccacgg ccgagcctct
7261 ggccggagat cggccgccca cggggggcca cagcagcggc cgctcgccca ggatggagag
7321 gcgggtccca ggcccggccc ggagcgagtc ccccagggcc tgtcgacacg gcggggcccg
7381 gtggccggca tctggcccgc acgtgtccga ggggcccccg ggtccccggc accatggcta
7441 ctaccggggc tccgactacg acgaggccga tggcccgggc agcgggggcg gcgaggaggc
7501 catggccggg gcctacgacg cgccaccccc cgtacgacac gcgtcctcgg gcgccaccgg
7561 gcgctcgccc aggactcccc gggcctcggg cccggcctgc gcctcgcctt ctcggcacgg
7621 ccggcgactc cccaacggct actacccggc gcacggactg gccaggcccc gcgggccggg
7681 ctccaggaag ggcctgcacg aaccctacag cgagagtgac gatgattggt gctaagcccg
7741 ggcg
//