LOCUS X16468 4257 bp mRNA linear HUM 21-OCT-2008
DEFINITION Human mRNA for alpha-1 type II collagen.
ACCESSION X16468
VERSION X16468.1
KEYWORDS collagen alpha; collagen alpha 1 type II.
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 4257)
AUTHORS Ramirez F.
JOURNAL Submitted (08-SEP-1989) to the INSDC. Ramirez F., Mount Sinai
Hospital, Brookdale Centre for Molecular Biology, Box 1128A, New
York NY 10029, U S A.
REFERENCE 2 (bases 1 to 4257)
AUTHORS Su M.W., Lee B., Ramirez F., Machado M., Horton W.
TITLE Nucleotide sequence of the full length cDNA encoding for human type
II procollagen
JOURNAL Nucleic Acids Res. 17(22), 9473-9473(1989).
PUBMED 2587267
REFERENCE 3 (bases 2951 to 2951)
AUTHORS Tiller G.G.
JOURNAL Submitted (13-AUG-1992) to the INSDC. Division of
Genetics,Vanderbilt Uni. Medical center DD-2205, medical center
north 21st at Garland, Nashville, TN, 37232-2578,USA
REFERENCE 4
AUTHORS Bogaert R.R., Tiller G.G., Weis M.M., Gruber H.H., Rimoin D.D.,
Cohn D.D., Eyer D.D.
TITLE An amino acid substitution (Gly853-Glu) in the collagen a1 (II)
chain produces hypochondrogenesis
JOURNAL Unpublished.
FEATURES Location/Qualifiers
source 1..4257
/db_xref="H-InvDB:HIT000321560"
/organism="Homo sapiens"
/chromosome="12q13.1-13.3"
/mol_type="mRNA"
/clone_lib="lambda gt11, pUC18"
/clone="HC21, HC22"
/db_xref="taxon:9606"
CDS 1..4257
/note="prepropeptide (AA 1-1418)"
/db_xref="GOA:P02458"
/db_xref="H-InvDB:HIT000321560.15"
/db_xref="HGNC:HGNC:2200"
/db_xref="InterPro:IPR000885"
/db_xref="InterPro:IPR001007"
/db_xref="InterPro:IPR008160"
/db_xref="PDB:1U5M"
/db_xref="PDB:2FSE"
/db_xref="PDB:2SEB"
/db_xref="PDB:5NIR"
/db_xref="PDB:5OCX"
/db_xref="PDB:5OCY"
/db_xref="PDB:6BIN"
/db_xref="UniProtKB/Swiss-Prot:P02458"
/protein_id="CAA34488.1"
/translation="MIRLGAPQSLVLLTLLVAAVLRCQGQDVRQPGPKGQKGEPGDIK
DIVGPKGPPGPQGPAGEQGPRGDRGDKGEKGAPGPRGRDGEPGTLGNPGPPGPPGPPG
PPGLGGNFAAQMAGGFDEKAGGAQLGVMQGPMGPMGPRGPPGPAGAPGPQGFQGNPGE
PGEPGVSGPMGPRGPPGPPGKPGDDGEAGKPGKAGERGPPGPQGARGFPGTPGLPGVK
GHRGYPGLDGAKGEAGAPGVKGESGSPGENGSPGPMGPRGLPGERGRTGPAGAAGARG
NDGQPGPAGPPGPVGPAGGPGFPGAPGAKGEAGPTGARGPEGAQGPRGEPGTPGSPGP
AGASGNPGTDGIPGAKGSAGAPGIAGAPGFPGPRGPPDPQGATGPLGPKGQTGKPGIA
GFKGEQGPKGEPGPAGPQGAPGPAGEEGKRGARGEPGGVGPIGPPGERGAPGNRGFPG
QDGLAGPKGAPGERGPSGLAGPKGANGDPGRPGEPGLPGARGLTGRPGDAGPQGKVGP
SGAPGEDGRPGPPGPQGARGQPGVMGFPGPKGANGEPGKAGEKGLPGAPGLRGLPGKD
GETGAEGPPGPAGPAGERGEQGAPGPSGFQGLPGPPGPPGEGGKPGDQGVPGEAGAPG
LVGPRGERGFPGERGSPGAQGLQGPRGLPGTPGTDGPKGASGPAGPPGAQGPPGLQGM
PGERGAAGIAGPKGDRGDVGEKGPEGAPGKDGGRGLTGPIGPPGPAGANGEKGEVGPP
GPAGSAGARGAPGERGETGPPGTSGIAGPPGADGQPGAKGEQGEAGQKGDAGAPGPQG
PSGAPGPQGPTGVTGPKGARGAQGPPGATGFPGAAGRVGPPGSNGNPGPPGPPGPSGK
DGPKGARGDSGPPGRAGEPGLQGPAGPPGEKGEPGDDGPSGAEGPPGPQGLAGQRGIV
GLPGQRGERGFPGLPGPSGEPGQQGAPGASGDRGPPGPVGPPGLTGPAGEPGREGSPG
ADGPPGRDGAAGVKGDRGETGAVGAPGAPGPPGSPGPAGPTGKQGDRGEAGAQGPMGP
SGPAGARGIQGPQGPRGDKGEAGEPGERGLKGHRGFTGLQGLPGPPGPSGDQGASGPA
GPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPRGRSGETGPAGPPGNPGPPGPPGPPG
PGIDMSAFAGLGPREKGPDPLQYMRADQAAGGLRQHDAEVDATLKSLNNQIESIRSPE
GSRKNPARTCRDLKLCHPEWKSGDYWIDPNQGCTLDAMKVFCNMETGETCVYPNPANV
PKKNWWSSKSKEKKHIWFGETINGGFHFSYGDDNLAPNTANVQMTFLRLLSTEGSQNI
TYHCKNSIAYLDEAAGNLKKALLIQGSNDVEIRAEGNSRFTYTALKDGCTKHTGKWGK
TVIEYRSQKTSRLPIIDIAPMDIGGPEQEFGVDIGPVCFL"
misc_feature 1..336
/note="N-terminal propeptide (AA 1-112)"
mat_peptide 337..3513
/note="alpha-1 type II collagen (AA 113-1171)"
variation 2951
/replace="a"
/note="the codon for glycine (GGA) at pos. 2950 is changed
to a codon for glutamatate te (GAA) in case of
hypochondrogenesis"
/citation=[3]
misc_feature 3514..4254
/note="C-terminal propeptide (AA 1172-1418)"
BASE COUNT 789 a 1279 c 1426 g 763 t
ORIGIN
1 atgattcgcc tcggtgctcc ccagtcgctg gtactgctga cgctgctcgt cgccgctgtc
61 cttcggtgtc agggccagga tgtccggcaa ccaggaccaa agggacagaa aggagaacct
121 ggagacatca aggatattgt aggacccaaa ggacctcctg ggcctcaggg acctgcaggg
181 gaacaaggac ccagagggga tcgtggtgac aaaggtgaaa aaggtgcccc tggacctcgt
241 ggcagagatg gagaacctgg gacccttgga aatcctggcc cccctggtcc tcccggcccc
301 cctggtcccc ctggtcttgg tggaaacttt gctgcccaga tggctggagg atttgatgaa
361 aaggctggtg gcgcccagtt gggagtaatg caaggaccaa tgggccccat gggacctcga
421 ggacctccag gccctgcagg tgctcctggg cctcaaggat ttcaaggcaa tcctggtgaa
481 cctggtgaac ctggtgtctc tggtcccatg ggtccccgtg gtcctcctgg tccccctgga
541 aagcctggtg atgatggtga agctggaaaa cctggaaaag ctggtgaaag gggtccgcct
601 ggtcctcagg gtgctcgtgg tttcccagga accccaggcc ttcctggtgt caaaggtcac
661 agaggttatc caggcctgga cggtgctaag ggagaggcgg gtgctcctgg tgtgaagggt
721 gagagtggtt ccccgggtga gaacggatct ccgggcccaa tgggtcctcg tggcctgcct
781 ggtgaaagag gacggactgg ccctgctggc gctgcgggtg cccgaggcaa cgatggtcag
841 ccaggccccg cagggcctcc gggtcctgtc ggtcctgctg gtggtcctgg cttccctggt
901 gctcctggag ccaagggtga agccggcccc actggtgccc gtggtcctga aggtgctcaa
961 ggtcctcgcg gtgaacctgg tactcctggg tcccctgggc ctgctggtgc ctccggtaac
1021 cctggaacag atggaattcc tggagccaaa ggatctgctg gtgctcctgg cattgctggt
1081 gctcctggct tccctgggcc acggggccct cctgaccctc aaggtgcaac tggtcctctg
1141 ggcccgaaag gtcagacggg taaacctggt attgctggct tcaaaggtga acaaggcccc
1201 aagggagaac ctggccctgc tggcccccag ggagcccctg gacccgctgg tgaagaaggc
1261 aagagaggtg cccgtggaga gcctggtggc gttgggccca tcggtccccc tggagaaaga
1321 ggtgctcccg gcaaccgcgg tttcccaggt caagatggtc tggcaggtcc caagggagcc
1381 cctggagagc gagggcccag tggtcttgct ggccccaagg gagccaacgg tgaccctggc
1441 cgtcctggag aacctggcct tcctggagcc cggggtctca ctggccgccc tggtgatgct
1501 ggtcctcaag gcaaagttgg cccttctgga gcccctggtg aagatggtcg tcctggacct
1561 ccaggtcctc agggggctcg tgggcagcct ggtgtcatgg gtttccctgg ccccaaaggt
1621 gccaacggtg agcctggcaa agctggtgag aagggactgc ctggtgctcc tggtctgagg
1681 ggtcttcctg gcaaagatgg tgagacaggt gctgaaggcc cccctggccc tgctggacct
1741 gctggtgaac gaggcgagca gggtgctcct gggccatctg ggttccaggg acttcctggc
1801 cctcctggtc ccccaggtga aggtggaaaa ccaggtgacc agggtgttcc cggtgaagct
1861 ggagcccctg gactagtggg tcccaggggt gaacgaggtt tcccaggtga acgtggctct
1921 cccggtgccc agggcctcca gggtccccgt ggcctccccg gcactcctgg cactgatggt
1981 cccaaaggtg catctggccc agcaggcccc cctggggctc agggccctcc aggtcttcag
2041 ggaatgcctg gcgagagggg agcagctggt atcgctgggc ccaaaggcga caggggtgac
2101 gttggtgaga aaggccctga gggagcccct ggaaaggatg gtggacgagg cctgacaggt
2161 cccattggcc cccctggccc agctggtgct aatggcgaga agggagaagt tggacctcct
2221 ggtcctgcag gaagtgctgg tgctcgtggc gctccgggtg aacgtggaga gactgggccc
2281 cccgggacca gcgggattgc tgggcctcct ggtgctgatg gccagcctgg ggccaagggt
2341 gagcaaggag aggccggcca gaaaggcgat gctggtgccc ctggtcctca gggcccctct
2401 ggagcacctg ggcctcaggg tcctactgga gtgactggtc ctaaaggagc ccgaggtgcc
2461 caaggccccc cgggagccac tggattccct ggagctgctg gccgcgttgg acccccaggc
2521 tccaatggca accctggacc ccctggtccc cctggtcctt ctggaaaaga tggtcccaaa
2581 ggtgctcgag gagacagcgg cccccctggc cgagctggtg aacccggcct ccaaggtcct
2641 gctggacccc ctggcgagaa gggagagcct ggagatgacg gtccctctgg tgccgaaggt
2701 ccaccaggtc cccagggtct ggctggtcag agaggcatcg tcggtctgcc tgggcaacgt
2761 ggtgagagag gattccctgg cttgcctggc ccgtcgggtg agcccggcca gcagggtgct
2821 cctggagcat ctggagacag aggtcctcct ggccccgtgg gtcctcctgg cctgacgggt
2881 cctgcaggtg aacctggacg agagggaagc cccggtgctg atggcccccc tggcagagat
2941 ggcgctgctg gagtcaaggg tgatcgtggt gagactggtg ctgtgggagc tcctggagcc
3001 cctgggcccc ctggctcccc tggccccgct ggtccaactg gcaagcaagg agacagagga
3061 gaagctggtg cacaaggccc catgggaccc tcaggaccag ctggagcccg gggaatccag
3121 ggtcctcaag gccccagagg tgacaaagga gaggctggag agcctggcga gagaggcctg
3181 aagggacacc gtggcttcac tggtctgcag ggtctgcccg gccctcctgg tccttctgga
3241 gaccaaggtg cttctggtcc tgctggtcct tctggcccta gaggtcctcc tggccccgtc
3301 ggtccctctg gcaaagatgg tgctaatgga atccctggcc ccattgggcc tcctggtccc
3361 cgtggacgat caggcgaaac cggccctgct ggtcctcctg gaaatcctgg accccctggt
3421 cctccaggtc cccctggccc tggcatcgac atgtccgcct ttgctggctt aggcccgaga
3481 gagaagggcc ccgaccccct gcagtacatg cgggccgacc aggcagccgg tggcctgaga
3541 cagcatgacg ccgaggtgga tgccacactc aagtccctca acaaccagat tgagagcatc
3601 cgcagccccg agggctcccg caagaaccct gctcgcacct gcagagacct gaaactctgc
3661 caccctgagt ggaagagtgg agactactgg attgacccca accaaggctg caccttggac
3721 gccatgaagg ttttctgcaa catggagact ggcgagactt gcgtctaccc caatccagca
3781 aacgttccca agaagaactg gtggagcagc aagagcaagg agaagaaaca catctggttt
3841 ggagaaacca tcaatggtgg cttccatttc agctatggag atgacaatct ggctcccaac
3901 actgccaacg tccagatgac cttcctacgc ctgctgtcca cggaaggctc ccagaacatc
3961 acctaccact gcaagaacag cattgcctat ctggacgaag cagctggcaa cctcaagaag
4021 gccctgctca tccagggctc caatgacgtg gagatccggg cagagggcaa tagcaggttc
4081 acgtacactg ccctgaagga tggctgcacg aaacataccg gtaagtgggg caagactgtt
4141 atcgagtacc ggtcacagaa gacctcacgc ctccccatca ttgacattgc acccatggac
4201 ataggagggc ccgagcagga attcggtgtg gacatagggc cggtctgctt cttgtaa
//