LOCUS HSU80738 1648 bp mRNA linear HUM 24-JUL-2016
DEFINITION Homo sapiens CAGH1a (CAGH1) mRNA, partial cds.
ACCESSION U80738
VERSION U80738.1
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 1648)
AUTHORS Margolis,R.L., Abraham,M.R., Gatchell,S.B., Li,S.H., Kidwai,A.S.,
Breschel,T.S., Stine,O.C., Callahan,C., McInnis,M.G. and Ross,C.A.
TITLE cDNAs with long CAG trinucleotide repeats from human brain
JOURNAL Hum. Genet. 100 (1), 114-122 (1997)
PUBMED 9225980
REFERENCE 2 (bases 1 to 1648)
AUTHORS Margolis,R.L., Abraham,M.R., Gatchell,S.B., Li,S.H., Kidwai,A.S.,
Breschel,T.S., Stine,O.C., Callahan,C., McInnis,M.G. and Ross,C.A.
TITLE Direct Submission
JOURNAL Submitted (02-DEC-1996) Psychiatry, Johns Hopkins Univ. Sch. of
Med., 600 N. Wolfe Street, Meyer 2-181, Baltimore, MD 21205, USA
COMMENT Contains two polymorphic regions.
5' polymorphism: 20% heterozygosity in 30 chromosomes tested
Allele bp frequency:
82: 0.83
85: 0.17
3' polymorphism: 31% heterozygosity in 32 chromosomes tested
Allele bp frequency:
118: 0.84
124: 0.03
127: 0.06
130: 0.03
133: 0.03.
FEATURES Location/Qualifiers
source 1..1648
/db_xref="H-InvDB:HIT000221578"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12p12; between D12S328and D12S89"
/tissue_type="brain"
/dev_stage="fetus"
gene 1..1648
/gene="CAGH1"
CDS <1..551
/gene="CAGH1"
/note="polyglutamine rich"
/codon_start=3
/product="CAGH1a"
/protein_id="AAB91437.1"
/translation="RQHNKDKPFKCHNCHRAYTDAASLEVHLSTHTVKHAKVYTCTIC
SRAYTSETYLMKHMRKHNPPDLQQQVQAAAAAAAVAQAQAQAQAQAQAQAQAQAQAQA
SQASQQQQQQQQQQQQQQQPPPHFQSPGAAPQGGGGGDSNPNPPPQCSFDLTPYKTAE
HHKDICLTVTTSTIQVEHLASS"
repeat_region 321..359
/gene="CAGH1"
/rpt_type=tandem
/rpt_unit_seq="cag"
BASE COUNT 399 a 464 c 384 g 401 t
ORIGIN
1 gacggcaaca caacaaagat aaacccttca agtgccacaa ctgtcatcgg gcgtacacgg
61 atgcagcctc actagaggtg cacctgtcta cgcacacagt gaagcatgcc aaggtgtaca
121 cctgcactat ctgcagtcgg gcatacacat cagaaacata ccttatgaaa catatgcgca
181 aacacaaccc gcctgatctt cagcaacagg tgcaggcagc agcagcagcg gcagcagtgg
241 cccaggccca ggctcaagct caagcccagg ctcaggctca ggctcaagcc caggcccagg
301 cccaggcctc ccaggcatca cagcagcagc agcagcagca gcagcagcag cagcagcagc
361 aacagccacc accacacttc cagtctcctg gggcagcccc ccagggtggg ggtggtgggg
421 acagcaatcc caaccctcca ccccagtgtt cctttgacct gaccccgtat aagacggcgg
481 agcatcataa ggacatctgc ctcactgtca ccaccagcac catccaggtg gagcacctgg
541 ccagctctta gagatccgtg ctgccaccca ctgggaagag gaagaagtag tcctggtgtc
601 ttctttctcc aactcttggt gggaaaagtc cttttcttcc ttgacaggcc ttggctccat
661 ctccttgggc ctctgtcacg gctttccttc acaggatacc atcctttttc tgaactcttc
721 ttcaaaagga acatcagccc tcctgattgc aaaggaatac tgagctgatg gtgtcatcca
781 gcagcctccc ctcccaagca aagcttctaa aactgggggt cggtgctcaa gggaaggatt
841 tgctatgacc tcatagaacc ttgtccagtg tggccactta ccctatcctt accctcctta
901 tcctcaaagt ttgggctgat gtaagactag aggctggccc tcccagataa cagagaaaag
961 ggagccccaa atgcaaccag cctcttgttc tattcttgcc tgcaaaagaa cagaggtttc
1021 tcaaatgcct cagtccctga gagccatttc ttcccctaca tcgtctcact ttgcttccta
1081 ttgactgctg gtagaaggag atttggggta ggggctagac ctccttttat ttgaaggggg
1141 caagggctga gatgtggtcc ccaaggggcc agaaattccc aagttggtca caggtggctt
1201 agaagtgtgt gttatggttt tacggatttc cttgaagcct ctctccttct ctgcctacaa
1261 agacctatac tctcaagtct ccccaaccca cccccaagga gctgtgggag gctttgtgta
1321 atctgtgcaa actccaaaac aggggtgttg cggagaaggg agagttcaag gtaaactcaa
1381 ggactggact tagctcccta ggtgccacag tcagatgccg gacacggatt tatatataaa
1441 tatatatata taaatatatt atacccactc atcacggcca tctttgttgt aaccatttct
1501 gtgtttataa atgcattatc tctgagaatt ttcatatttg atgttttgtt tatttttgtc
1561 ctttttttcc ctctctccac ccctgtcctc tagccacagc atttttcttt ttgtccttgg
1621 ggtgggggag gggggaggga tggaattc
//