LOCUS       X56352                  1882 bp    mRNA    linear   HUM 18-APR-2005
DEFINITION  Human ALAS2 (ALASE) mRNA for delta-aminolevulinate synthase
            (erythroid) (EC 2.3.1.37).
ACCESSION   X56352
VERSION     X56352.1
KEYWORDS    5-aminolevulinic acid synthase; delta-aminolevulinate synthase.
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 1882)
  AUTHORS   Bishop D.F.
  JOURNAL   Submitted (01-SEP-1990) to the INSDC. Bishop D.F., Mount Sinai
            School of Medicine, Division of Medical & Molecular Genetics, Box
            1203, Fifth Avenue at 100th St, New York, NY 10029, U S A.
REFERENCE   2
  AUTHORS   Bishop D.F.
  TITLE     Two different genes encode delta-aminolevulinate synthase in
            humans: nucleotide sequences of cDNAs for the housekeeping and
            erythroid genes
  JOURNAL   Nucleic Acids Res. 18(23), 7187-7188(1990).
   PUBMED   2263504
FEATURES             Location/Qualifiers
     source          1..1882
                     /db_xref="H-InvDB:HIT000322021"
                     /organism="Homo sapiens"
                     /chromosome="X"
                     /map="Xp11.2"
                     /mol_type="mRNA"
                     /dev_stage="fetus"
                     /clone_lib="lambda gt11"
                     /clone="lambda AE2, pAE214"
                     /tissue_type="liver"
                     /db_xref="taxon:9606"
     mRNA            <1..1882
                     /gene="ALAS2 (ALASE)"
     CDS             13..1761
                     /gene="ALAS2, ALASE"
                     /product="delta-aminolevulinate synthase (erythroid)"
                     /db_xref="GOA:P22557"
                     /db_xref="H-InvDB:HIT000322021.12"
                     /db_xref="HGNC:HGNC:397"
                     /db_xref="InterPro:IPR001917"
                     /db_xref="InterPro:IPR004839"
                     /db_xref="InterPro:IPR010961"
                     /db_xref="InterPro:IPR015118"
                     /db_xref="InterPro:IPR015421"
                     /db_xref="InterPro:IPR015422"
                     /db_xref="InterPro:IPR015424"
                     /db_xref="PDB:6HRH"
                     /db_xref="UniProtKB/Swiss-Prot:P22557"
                     /protein_id="CAA39795.1"
                     /translation="MLLQCCPVLARGPTSLLGKVVKTHQFLFGIGRCPILATQGPNCS
                     QIHLKATKAGGDSPSWAKGHCPFMLSELQDGKSKIVQKAAPEVQEDVKAFKTDLPSSL
                     VSVSLRKPFSGPQEQEQISGKVTHLIQNNMPGNYVFSYDQFFRDKIMEKKQDHTYRVF
                     KTVNRWADAYPFAQHFFEASVASKDVSVWCSNDYLGMSRHPQVLQATQETLQRHGAGA
                     GGTRNISGTSKFHVELEQELAELHQKDSALLFSSCFVANDSTLFTLAKILPGCEIYSD
                     AGNHASMIQGIRNSGAAKFVFRHNDPDHLKKLLEKSNPKIPKIVAFETVHSMDGAICP
                     LEELCDVSHQYGALTFVDEVHAVGLYGSRGAGIGERDGIMHKIDIISGTLGKAFGCVG
                     GYIASTRDLVDMVRSYAAGFIFTTSLPPMVLSGALESVRLLKGEEGQALRRAHQRNVK
                     HMRQLLMDRGLPVIPCPSHIIPIRVGNAALNSKLCDLLLSKHGIYVQAINYPTVPRGE
                     ELLRLAPSPHHSPQMMEDFVEKLLLAWTAVGLPLQDVSVAACNFCRRPVHFELMSEWE
                     RSYFGNMGPQYVTTYA"
     mat_peptide     13..1758
                     /gene="ALAS2 (ALASE)"
                     /product="delta-aminolevulinate synthase (erythroid)"
     regulatory      1865..1871
                     /regulatory_class="polyA_signal_sequence"
     polyA_site      1882
BASE COUNT          410 a          539 c          494 g          439 t
ORIGIN      
        1 gtgactgcag ccatgctgct acagtgctgc ccagtgcttg cccggggccc cacaagcctc
       61 ctaggcaagg tggttaagac tcaccagttc ctgtttggta ttggacgctg tcccatcctg
      121 gctacccaag gaccaaactg ttctcaaatc caccttaagg caacaaaggc tggaggagat
      181 tctccatctt gggcgaaggg ccactgtccc ttcatgctgt cggaactcca ggatgggaag
      241 agcaagattg tgcagaaggc agccccagaa gtccaggaag atgtgaaggc tttcaagaca
      301 gatctgccta gctccctggt ctcagtcagc ctaaggaagc cattttccgg tccccaggag
      361 caggagcaga tctctgggaa ggtcacacac ctgattcaga acaatatgcc tggaaactat
      421 gtcttcagtt atgaccagtt tttcagggac aagatcatgg agaagaaaca ggatcacacc
      481 taccgtgtgt tcaagactgt gaaccgctgg gctgatgcat atccctttgc ccaacatttc
      541 tttgaggcat ctgtggcctc aaaggatgtg tccgtctggt gtagtaatga ttacctgggc
      601 atgagccgac accctcaggt cttgcaagcc acacaggaga ccctgcagcg tcatggtgct
      661 ggagctggtg gcacccgcaa catctcaggc accagtaagt ttcatgtgga gcttgagcag
      721 gagctggctg agctgcacca gaaggactca gccctgctct tctcctcctg ctttgttgcc
      781 aatgactcta ctctcttcac cttggccaag atcctgccag ggtgcgagat ttactcagac
      841 gcaggcaacc atgcttccat gatccaaggt atccgtaaca gtggagcagc caagtttgtc
      901 ttcaggcaca atgaccctga ccacctaaag aaacttctag agaagtctaa ccctaagata
      961 cccaaaattg tggcctttga gactgtccac tccatggatg gtgccatctg tcccctcgag
     1021 gagttgtgtg atgtgtccca ccagtatggg gccctgacct tcgtggatga ggtccatgct
     1081 gtaggactgt atgggtcccg gggcgctggg attggggagc gtgatggaat tatgcataag
     1141 attgacatca tctctggaac tcttggcaag gcctttggct gtgtgggcgg ctacattgcc
     1201 agcacccgtg acttggtgga catggtgcgc tcctatgctg caggcttcat ctttaccact
     1261 tctctgcccc ccatggtgct ctctggagct ctagaatctg tgcggctgct caagggagag
     1321 gagggccaag ccctgaggcg agcccaccag cgcaatgtca agcacatgcg ccagctactc
     1381 atggacaggg gccttcctgt catcccctgc cccagccaca tcatccccat ccgggtgggc
     1441 aatgcagcac tcaacagcaa gctctgtgat ctcctgctct ccaagcatgg catctatgtg
     1501 caggccatca actacccaac tgtcccccgg ggtgaagagc tcctgcgctt ggcaccctcc
     1561 ccccaccaca gccctcagat gatggaagat tttgtggaga agctgctgct ggcttggact
     1621 gcggtggggc tgcccctcca ggatgtgtct gtggctgcct gcaatttctg tcgccgtcct
     1681 gtacactttg agctcatgag tgagtgggaa cgttcctact tcgggaacat ggggccccag
     1741 tatgtcacca cctatgcctg agaagccagc tgcctaggat tcacacccca cctgcgcttc
     1801 acttgggtcc aggcctactc ctgtcttctg ctttgttgtg tgcctctagc tgaattgagc
     1861 ctaaaaataa agcacaaacc ac
//