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 //