LOCUS AY608690 2194 bp mRNA linear HUM 26-MAR-2009
DEFINITION Homo sapiens EFHC1 isoform (EFHC1) mRNA, complete cds.
ACCESSION AY608690
VERSION AY608690.1
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 2194)
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 2194)
AUTHORS Suzuki,T., Mazaki,E. and Yamakawa,K.
TITLE Direct Submission
JOURNAL Submitted (27-APR-2004) Neurogenetics, RIKEN Brain Science
Institute, 2-1, Hirosawa, Wako-shi, Saitama 351-0198, Japan
FEATURES Location/Qualifiers
source 1..2194
/db_xref="H-InvDB:HIT000255738"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6p12.3"
gene 1..2194
/gene="EFHC1"
CDS 670..1506
/gene="EFHC1"
/codon_start=1
/product="EFHC1 isoform"
/protein_id="AAT67419.1"
/translation="MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPT
VGIGGDRLQFNQLSQAELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAY
FQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRG
DHYHWKDLNRGINITIYGKTFHVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQ
PLRKYVTPSDFDQLKQFLTFDKQVSDIGTTIGLLISKCDLHLLAKGLGSCIGNYFETL
QL"
BASE COUNT 608 a 527 c 495 g 564 t
ORIGIN
1 gacaatgtgg cagtgggaga attaaggatg agatgattgc attagttcat tgaccatccc
61 tgagcaacag aaacacaatc atgggtaatc ctcggcccct gcctacaaga agcatgggtc
121 tagtttagta gcactgccaa ctggaccgac catttacact tctgtgtgaa atggggcaga
181 ggggggagaa aagagtgcct gagctcacag cgttggcggg gcgcagtgag gtccgccagg
241 actaggtgga aggagagaag gaacgtccct ctctgcaact catctaaggg cctgctcgga
301 ccccggatct cacagcgaga actaccgcct cgctacaccc gcctttcccc gcgccaccca
361 acagctccca cgtctcatcc tccgggagcg gggcggggcg aagcggaaga ggaggggccg
421 acacaaccac gcccactagc cgcgctccaa ggccgcggcc cacttaccgc gagaacgcgg
481 agtcctgcgg atggcgcacg cgcaaacctc ctgtgatgcc tgcgcctcct ggccccgcct
541 tccgctcgtg ggagttccgg atgtttagcg ttaccatgga tcctggaggt gcccgcgaac
601 actgcttgtc gcctgggcaa ccggagagga cgaagcagga cctaggtggc ggcggtggta
661 ccggctgcaa tggtgtccaa tcccgtgcat ggcttgccct ttcttccggg cacgtccttt
721 aaggactcta cgaaaacagc cttccacaga agtcagacgc tgagctacag gaacggctat
781 gcaattgttc gacgtccaac agttgggata ggcggagacc ggctccagtt caaccagctg
841 tcccaggctg agctggatga gttggccagt aaggcaccag tcttaactta tggccaacct
901 aaacaagccc cacctgcgga ttttattcct gcgcatgtgg cctttgacaa aaaggtactg
961 aaatttgatg cctatttcca agaagatgtt cctatgtcaa ctgaggaaca gtataggatc
1021 cgtcaggtga acatttacta ttatctagaa gatgacagca tgtctgtcat agagcctgtt
1081 gtagaaaatt ctggaatcct tcaaggcaag ttaataaaac gccagcggct agccaagaat
1141 gaccggggtg accattacca ttggaaagac ctaaatcgag gaataaacat cacaatttat
1201 ggcaaaactt tccacgttgt tgactgtgac caattcacac aggtattttt agaaagccaa
1261 ggaattgagt taaatccacc agagaagatg gctcttgatc cttacactga actccgaaaa
1321 cagcctcttc gtaagtatgt caccccatca gactttgatc aactcaagca atttctcacc
1381 tttgacaaac aggtaagtga cataggaacc acaataggct tacttatttc caaatgtgac
1441 ctacatttat tggcaaaagg tttgggtagc tgtattggta actattttga aacattacag
1501 ctataattga actgtttgga cacagtactg tctttctgct ttcatcaagg gttacaggta
1561 caggaatgcc tacatttcat atggagatcc aaagaagatc gtggagttgc ggagttgttt
1621 tgtgaacctc accaaacatt taaatctcaa agcaattcct gagctacatc tgcttcccac
1681 cttacgtttc caattgacaa tttctttccc ttaaaatgag ctaatttcat agactccttt
1741 gtgaaaccat aaatcgatta ttaggaaatt tcacaaatat gcatacatgt aggttgtaat
1801 gttaaaatgt ttaatttcac agaagcccca ctacagatgc ttccttgtta aatgttatat
1861 taatattgga gtccagaatg ttctgagcat tttccaactc tgttccaacc ttcctaatcc
1921 tctcccttgt gagctgatgt gtataagcag atttaaatcc ttccctttct gtactaaagg
1981 gagaaagaaa aggaagagat caccctcagt gcttctttgc tgctcctttt ctttagacat
2041 ttaacccctt ttagttcaga aaatgtaaac tagcactagc atggtctttt aaggattttg
2101 ttcatatcag tcatatatct gttattattt tgtatttaaa gattgtgtta ttcccacgat
2161 ttgaagaagc ctagccaaaa aaaaaaaaaa aaaa
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