GenBank-Updates@genbank.bio.net (05/08/91)
LOCUS HUMCOLAP1A 678 bp ss-mRNA PRI 08-MAY-1991
DEFINITION Human mRNA alpha-1 collagen type I mRNA, 3' end.
ACCESSION X06269
KEYWORDS collagen.
SOURCE Human calvarial bone, cDNA to mRNA.
ORGANISM Homo sapiens
Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE 1 (bases 1 to 678)
AUTHORS Vuorio,E.
JOURNAL Unpublished (1987) Univ of Turku,SF-20520 Turku,Finland
STANDARD simple automatic
REFERENCE 2 (bases 1 to 678)
AUTHORS Maekelae,J.K., Raassina,M., Virta,A. and Vuorio,E.
TITLE Human pro-alpha-1(I) collagen: cDNA sequence for the C-propeptide
domain
JOURNAL Nucleic Acids Res. 16, 349-349 (1988)
STANDARD simple automatic
REFERENCE 3 (bases 281 to 290)
AUTHORS Bateman,J.F., Lamande,S.R., Dahl,H.-H.M., Chan,D., Mascara,T. and
Cole,W.G.
TITLE A frameshift mutation results in a truncated nonfunctional
carboxyl-terminal pro-alpha-1(I) propeptide of type I collagen in
osteogenesis imperfecta
JOURNAL J. Biol. Chem. 264, 10960-10964 (1989)
STANDARD full staff_entry
COMMENT The mutation at position 284-285 (insertion of an extra 't') causes
premature transcription termination at position 597-599.
FEATURES Location/Qualifiers
CDS <1..>678
/note="alpha-1 collagen type I (AA at 1) /nomgen='COL1A1'
/map='17q21.3-q22' /hgml_locus_uid='LG0047H'"
/codon_start=1
mutation 284..285
/note="at in wt; att in osteogenesis imperfecta [J. Biol.
Chem. 264, 10960-10964 (1989)]"
misc_feature 409..417
/note="carbohydrate attachment site"
BASE COUNT 169 a 221 c 182 g 106 t
ORIGIN 1 bp upstream of XpaI site.
1 ctcgaggtgg acaccaccct caagagcctg agccagcaga tcgagaacat ccggagccca
61 gagggaagcc gcaagaaccc cgcccgcacc tgccgtgacc tcaagatgtg ccactctgac
121 tggaagagtg gagagtactg gattgacccc aaccaaggct gcaacctgga tgccatcaaa
181 gtcttctgca acatggagac tggtgagacc tgcgtgtacc ccactcagcc cagtgtggcc
241 cagaagaact ggtacatcag caagaacccc aaggacaaga ggcatgtctg gttcggcgag
301 agcatgaccg atggattcca gttcgagtat ggcggccagg gctccgaccc tgccgatgtg
361 gccatccagc tgaccttcct gcgcctgatg tccaccgagg cctcccagaa catcacctac
421 cactgcaaga acagcgtggc ctacatggac cagcagactg gcaacctcaa gaaggccctg
481 ctcctcaagg gctccaacga gatcgagatc cgcgccgagg gcaacagccg cttcacctac
541 agcgtcactg tcgatggctg cacgagtcac accggagcct ggggcaagac agtgattgaa
601 tacaaaacca ccaagacctc ccgcctgccc atcatcgatg tggccccctt ggacgttggt
661 gccccagacc aggaattc
//