LOCUS L29394 1411 bp mRNA linear HUM 04-AUG-2004 DEFINITION Homo sapiens haptoglobin alpha(2FS)-beta precursor (HP) mRNA, complete cds. ACCESSION L29394 M12387 N00026 X00442 VERSION L29394.1 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 1411) AUTHORS van der Straten,A., Herzog,A., Cabezon,T. and Bollen,A. TITLE Characterization of human haptoglobin cDNAs coding for alpha 2FS beta and alpha 1S beta variants JOURNAL FEBS Lett. 168 (1), 103-107 (1984) PUBMED 6546723 COMMENT On Aug 4, 2004 this sequence version replaced X00442.1. Data kindly reviewed (23-MAY-1984) by A. van der Straten. Hp mRNA codes for both alpha and beta polypeptides in tandem. The two chains are linked on the alpha-beta precursor by a single Arg residue (507-509), which is released during the proteolytic maturation generating the alpha and beta subunits. This cleavage mechanism gives further support to the hypothesis of a common ancestor for Hp and the serine protease family. Inherited variations in the smaller subunit, the alpha chain, are responsible for Hp polymorphism in human populations, the alpha chain having two major allelic forms, alpha-1 with 83 residues and alpha-2 with 142 residues. These alleles determine the 3 major phenotypes Hp1-1, Hp2-2 and Hp2-1. An Hp-alpha(1S)-beta variant was also presented in [1]; the DNA sequences are identical except for the Ala 11 to Glu 69 (111-287) duplicated portion of alpha-2. FEATURES Location/Qualifiers source 1..1411 /db_xref="H-InvDB:HIT000192823" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16q22.1" /clone="pULB1148" /haplotype="heterozygous Hp2-1" /tissue_type="liver" gene 1..1411 /gene="HP" CDS 27..1247 /gene="HP" /note="preprohaptoglobin" /codon_start=1 /product="haptoglobin alpha(2FS)-beta precursor" /protein_id="AAA52685.1" /db_xref="GDB:G00-119-314" /translation="MSALGAVIALLLWGQLFAVDSGNDVTDIADDGCPKPPEIAHGYV EHSVRYQCKNYYKLRTEGDGVYTLNDKKQWINKAVGDKLPECEADDGCPKPPEIAHGY VEHSVRYQCKNYYKLRTEGDGVYTLNNEKQWINKAVGDKLPECEAVCGKPKNPANPVQ RILGGHLDAKGSFPWQAKMVSHHNLTTGATLINEQWLLTTAKNLFLNHSENATAKDIA PTLTLYVGKKQLVEIEKVVLHPNYSQVDIGLIKLKQKVSVNERVMPICLPSKDYAEVG RVGYVSGWGRNANFKFTDHLKYVMLPVADQDQCIRHYEGSTVPEKKTPKSPVGVQPIL NEHTFCAGMSKYQEDTCYGDAGSAFAVHDLEEDTWYATGILSFDKSCAVAEYGVYVKV TSIQDWVQKTIAEN" sig_peptide 27..80 /gene="HP" misc_feature 81..1244 /gene="HP" /note="encodes haptoglobin alpha(2FS)-beta proprotein" mat_peptide 81..506 /gene="HP" /product="haptoglobin alpha-2FS chain" mat_peptide 510..1244 /gene="HP" /product="haptoglobin beta chain" misc_feature 111..287 /gene="HP" /note="duplicated portion of alpha-chain" misc_feature 507..509 /gene="HP" /note="cleavage site alpha-beta chain" BASE COUNT 397 a 319 c 384 g 311 t ORIGIN 1 ctcttccaga ggcaagacca accaagatga gtgccttggg agctgtcatt gccctcctgc 61 tctggggaca gctttttgca gtggactcag gcaatgatgt cacggatatc gcagatgacg 121 gctgcccgaa gccccccgag attgcacatg gctatgtgga gcactcggtt cgctaccagt 181 gtaagaacta ctacaaactg cgcacagaag gagatggagt atacacctta aatgataaga 241 agcagtggat aaataaggct gttggagata aacttcctga atgtgaagca gatgacggct 301 gcccgaagcc ccccgagatt gcacatggct atgtggagca ctcggttcgc taccagtgta 361 agaactacta caaactgcgc acagaaggag atggagtgta caccttaaac aatgagaagc 421 agtggataaa taaggctgtt ggagataaac ttcctgaatg tgaagcagta tgtgggaagc 481 ccaagaatcc ggcaaaccca gtgcagcgga tcctgggtgg acacctggat gccaaaggca 541 gctttccctg gcaggctaag atggtttccc accataatct caccacaggt gccacgctga 601 tcaatgaaca atggctgctg accacggcta aaaatctctt cctgaaccat tcagaaaatg 661 caacagcgaa agacattgcc cccactttaa cactctatgt ggggaaaaag cagcttgtag 721 agattgagaa ggttgttcta caccctaact actcccaagt agatattggg ctcatcaaac 781 tcaaacagaa ggtgtctgtt aatgagagag tgatgcccat ctgcctacca tccaaggatt 841 atgcagaagt agggcgtgtg ggttatgttt ctggctgggg gcgaaatgcc aattttaaat 901 ttactgacca tctgaagtat gtcatgctgc ctgtggctga ccaagaccaa tgcataaggc 961 attatgaagg cagcacagtc cccgaaaaga agacaccgaa gagccctgta ggggtgcagc 1021 ccatactgaa tgaacacacc ttctgtgctg gcatgtctaa gtaccaagaa gacacctgct 1081 atggcgatgc gggcagtgcc tttgccgttc acgacctgga ggaggacacc tggtatgcga 1141 ctgggatctt aagctttgat aagagctgtg ctgtggctga gtatggtgtg tatgtgaagg 1201 tgacttccat ccaggactgg gttcagaaga ccatagctga gaactaatgc aaggctggcc 1261 ggaagccctt gcctgaaagc aagatttcag cctggaagag ggcaaagtgg acgggagtgg 1321 acaggagtgg atgcgataag atgtggtttg aagctgatgg gtgccagccc tgcattgctg 1381 agtcaatcaa taaagagctt tcttttgacc c //