LOCUS EU520261 2188 bp mRNA linear HUM 26-MAR-2009
DEFINITION Homo sapiens EF-hand domain containing 1 (EFHC1) mRNA, complete
cds.
ACCESSION EU520261
VERSION EU520261.1
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 2188)
AUTHORS Suzuki,T., Miyamoto,H., Nakahari,T., Inoue,I., Suemoto,T.,
Jiang,B., Hirota,Y., Itohara,S., Saido,T.C., Tsumoto,T.,
Sawamoto,K., Hensch,T.K., Delgado-Escueta,A.V. and Yamakawa,K.
TITLE Efhc1 deficiency causes spontaneous myoclonus and increased seizure
susceptibility
JOURNAL Hum. Mol. Genet. 18 (6), 1099-1109 (2009)
PUBMED 19147686
REFERENCE 2 (bases 1 to 2188)
AUTHORS Suzuki,T., Mazaki,E. and Yamakawa,K.
TITLE Direct Submission
JOURNAL Submitted (25-FEB-2008) Lab. for Neurogenetics, RIKEN Brain Science
Institute, 2-1, Hirosawa, Wako-Shi, Saitama 351-0198, Japan
FEATURES Location/Qualifiers
source 1..2188
/db_xref="H-InvDB:HIT000485004"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
gene 1..2188
/gene="EFHC1"
CDS 101..2023
/gene="EFHC1"
/note="myoclonin 1"
/codon_start=1
/product="EF-hand domain containing 1"
/protein_id="ACB20691.1"
/translation="MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPT
VGIGGDRLQFNQLSQAELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAY
FQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRG
DHYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQ
PLRKYVTPSDFDQLKQFLTFDKQVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIR
EVHERNDGRDPFPLLMNRQRVPKVLVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKS
LTILGRTFFIYDCDPFTRRYYKEKFGITDLPRIDVSKREPPPVKQELPPYNGFGLVED
SAQNCFALIPKAPKKDVIKMLVNDNKVLRYLAVLESPIPEDKDRRFVFSYFLATDMIS
IFEPPVRNSGIIGGKYLGRTKVVKPYSTVDNPVYYGPSDFFIGAVIEVFGHRFIILDT
DEYVLKYMESNAAQYSPEALASIQNHVRKREAPAPEAESKQTEKDPGVQELEALIDTI
QKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFFKICESLNVPVDDSLVKELIRMCSH
GEGKINYYNFVRAFSN"
BASE COUNT 683 a 470 c 483 g 552 t
ORIGIN
1 ggcacgaggg atcctggagg tgcccgcgaa cactgcttgt cgcctgggca accggagagg
61 acgaagcagg acctaggtgg cggcggtggt accggctgca atggtgtcca atcccgtgca
121 tggcttgccc tttcttccgg gcacgtcctt taaggactct acgaaaacag ccttccacag
181 aagtcagacg ctgagctaca ggaacggcta tgcaattgtt cgacgtccaa cagttgggat
241 aggcggagac cggctccagt tcaaccagct gtcccaggct gagctggatg agttggccag
301 taaggcacca gtcttaactt atggccaacc taaacaagcc ccacctgcgg attttattcc
361 tgcgcatgtg gcctttgaca aaaaggtact gaaatttgat gcctatttcc aagaagatgt
421 tcctatgtca actgaggaac agtataggat ccgtcaggtg aacatttact attatctaga
481 agatgacagc atgtctgtca tagagcctgt tgtagaaaat tctggaatcc ttcaaggcaa
541 gttaataaaa cgccagcggc tagccaagaa tgaccggggt gaccattacc attggaaaga
601 cctaaatcga ggaataaaca tcacaattta tggcaaaact ttccgcgttg ttgactgtga
661 ccaattcaca caggtatttt tagaaagcca aggaattgag ttaaatccac cagagaagat
721 ggctcttgat ccttacactg aactccgaaa acagcctctt cgtaagtatg tcaccccatc
781 agactttgat caactcaagc aatttctcac ctttgacaaa caggtccttc gattctatgc
841 aatctgggat gatacagaca gcatgtatgg tgaatgtcgg acctacatca ttcattacta
901 tcttatggat gatacggtgg aaattcgaga ggtccacgaa cggaatgatg ggagagatcc
961 tttcccactc ctaatgaacc gccagcgtgt gcccaaagtt ttggtggaaa atgcaaagaa
1021 cttccctcag tgtgtgctag aaatctctga ccaagaagtg ttggaatggt atactgctaa
1081 agacttcatt gttgggaagt cactcactat ccttgggaga actttcttca tttatgattg
1141 tgatccattt actcgacggt attacaaaga gaagtttgga atcactgatt taccacgtat
1201 tgatgtgagc aagcgggaac cacctccagt aaaacaggag ttgcctcctt ataacggttt
1261 tggactagtg gaagattctg ctcagaattg ttttgctctc attccaaaag ctccaaaaaa
1321 agacgttatt aaaatgctgg tgaatgataa caaggtgctt cgttatttgg ctgtactgga
1381 atcccccatc ccagaagaca aagaccgcag atttgtcttc tcttactttc tagctaccga
1441 catgatcagt atctttgagc ctcctgttcg caattctggt atcattgggg gcaagtacct
1501 tggcaggact aaagttgtta aaccatactc tacagtggac aaccctgtct actatggccc
1561 cagtgacttc ttcattggtg ctgtgattga agtgtttggt caccggttca tcatccttga
1621 tacagacgag tatgttttga aatacatgga gagcaacgct gcccagtatt caccagaagc
1681 actcgcgtca attcagaacc atgtccgaaa gcgagaagcg cctgctccag aagcagaaag
1741 caagcaaact gaaaaggatc caggcgtgca ggaattggaa gcattaatag acacaattca
1801 gaagcaactg aaagatcact catgcaaaga caacattcgt gaggcatttc aaatttatga
1861 caaggaagct tcaggatatg tggacagaga catgttcttt aaaatctgtg aatcgcttaa
1921 cgtcccagtg gatgactcct tggttaagga gttaatcagg atgtgctctc atggagaagg
1981 caaaattaac tactataact ttgttcgtgc tttctcaaac tgacctgctg atgagaaaat
2041 gcaagacaat ttttgatact ggaactatgc ttgaaataca ccttacactc ttcatagagg
2101 catttacagg gttcctgaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa
2161 aaaaaaaaaa aaaaaaaaaa aaaaaaaa
//