LOCUS AF118838 3150 bp mRNA linear HUM 14-JUN-1999 DEFINITION Homo sapiens citrin (SLC25A13) mRNA, complete cds. ACCESSION AF118838 VERSION AF118838.1 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 3150) AUTHORS Kobayashi,K., Sinasac,D.S., Iijima,M., Boright,A.P., Begum,L., Lee,J.R., Yasuda,T., Ikeda,S., Hirano,R., Terazono,H., Crackower,M.A., Kondo,I., Tsui,L.C., Scherer,S.W. and Saheki,T. TITLE The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein JOURNAL Nat. Genet. 22 (2), 159-163 (1999) PUBMED 10369257 REFERENCE 2 (bases 1 to 3150) AUTHORS Sinasac,D.S., Tsui,L.-C. and Scherer,S.W. TITLE Direct Submission JOURNAL Submitted (08-JAN-1999) Department of Genetics and Genomic Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont. M5G 1X8, Canada FEATURES Location/Qualifiers source 1..3150 /db_xref="H-InvDB:HIT000070188" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="7" /map="7q21.3" gene 1..3150 /gene="SLC25A13" CDS 138..2165 /gene="SLC25A13" /note="putative calcium-dependent mitochondrial carrier protein; adult-onset type II citrullinemia protein" /codon_start=1 /product="citrin" /protein_id="AAD38501.1" /translation="MAAAKVALTKRADPAELRTIFLKYASIEKNGEFFMSPNDFVTRY LNIFGESQPNPKTVELLSGVVDQTKDGLISFQEFVAFESVLCAPDALFMVAFQLFDKA GKGEVTFEDVKQVFGQTTIHQHIPFNWDSEFVQLHFGKERKRHLTYAEFTQFLLEIQL EHAKQAFVQRDNARTGRVTAIDFRDIMVTIRPHVLTPFVEECLVAAAGGTTSHQVSFS YFNGFNSLLNNMELIRKIYSTLAGTRKDVEVTKEEFVLAAQKFGQVTPMEVDILFQLA DLYEPRGRMTLADIERIAPLEEGTLPFNLAEAQRQKASGDSARPVLLQVAESAYRFGL GSVAGAVGATAVYPIDLVKTRMQNQRSTGSFVGELMYKNSFDCFKKVLRYEGFFGLYR GLLPQLLGVAPEKAIKLTVNDFVRDKFMHKDGSVPLAAEILAGGCAGGSQVIFTNPLE IVKIRLQVAGEITTGPRVSALSVVRDLGFFGIYKGAKACFLRDIPFSAIYFPCYAHVK ASFANEDGQVSPGSLLLAGAIAGMPAASLVTPADVIKTRLQVAARAGQTTYSGVIDCF RKILREEGPKALWKGAGARVFRSSPQFGVTLLTYELLQRWFYIDFGGVKPMGSEPVPK SRINLPAPNPDHVGGYKLAVATFAGIENKFGLYLPLFKPSVSTSKAIGGGP" BASE COUNT 862 a 660 c 729 g 899 t ORIGIN 1 ggccaggaac gcacgctgcc tggccgtatc gccgccccca ccgacgccgc cgccgggact 61 agaagtgagc cgcccgggtc ccaaacgcca gccagccagt cagtgggtcc cgcagtcgcc 121 cgcaaccggg gcgaatcatg gcggccgcca aggtggcttt aaccaagaga gcagatccag 181 ctgagcttag aacaatattt ttgaagtatg caagcattga gaaaaacggt gaatttttca 241 tgtcccccaa tgactttgtc actcgatact tgaacatttt tggagaaagc cagcctaatc 301 caaagactgt ggaactttta agtggagtgg tggatcagac caaagatgga ttaatatctt 361 ttcaagaatt tgttgccttt gaatctgtcc tgtgtgcccc tgatgctttg tttatggtag 421 cctttcagct gtttgacaaa gctggcaaag gagaagtaac ttttgaggat gttaagcaag 481 tttttggaca gaccacaatt catcaacata ttccatttaa ctgggattca gaatttgtgc 541 aactacattt tggaaaagaa agaaaaagac acctgacata tgcggaattt actcagtttt 601 tattggaaat acaactggag cacgcaaagc aagcctttgt gcaacgggac aatgctagga 661 ctgggagagt cacagccatc gacttccgag acatcatggt caccatccgc ccccatgtct 721 tgactccttt tgtagaagaa tgtctagtag ctgctgctgg aggtaccaca tcccatcaag 781 ttagtttctc ctattttaat ggatttaatt cgctccttaa caacatggaa ctcattagaa 841 agatctatag cactctggct ggcaccagga aagatgttga agtgactaag gaggagtttg 901 ttctggcagc tcagaaattt ggtcaggtta cacccatgga agttgacatc ttgtttcagt 961 tagcagattt atatgagcca aggggacgta tgaccttagc agacattgaa cggattgctc 1021 ctctggaaga gggaactctg ccctttaact tggctgaggc ccagaggcag aaggcctcag 1081 gtgattcagc tcgaccagtt cttctacaag ttgcagagtc ggcctacagg tttggtctgg 1141 gttctgttgc tggagctgtt ggagccactg ctgtgtatcc tatcgatctt gtaaaaactc 1201 gaatgcagaa ccaacgatca actggctctt ttgtgggaga actcatgtat aaaaacagct 1261 ttgactgttt taagaaagtg ctacgctatg aaggcttctt tggactgtat agaggtctgt 1321 tgccacagtt attgggagtt gccccagaga aggccataaa acttacagtg aacgattttg 1381 tgagggataa atttatgcac aaagatggtt cggtcccact tgcagcagaa attcttgctg 1441 gaggctgcgc tggaggctcc caggtgattt tcacaaatcc tttagaaatc gtcaagatcc 1501 gtttgcaagt ggcaggagaa atcaccactg gtcctcgagt cagtgctctg tctgtcgtgc 1561 gggacctggg gttttttggg atctacaagg gtgccaaagc atgctttctg cgggacattc 1621 ctttctcggc catctacttt ccgtgctatg ctcatgtgaa ggcttccttt gcaaatgaag 1681 atgggcaggt tagcccagga agcctgctct tagctggtgc catagctggt atgcctgcag 1741 catctttagt gacccctgct gatgttatca agacgagatt acaggtggct gcccgggctg 1801 gccaaaccac ttacagcgga gtgatagact gctttagaaa gatactgcgt gaagaaggac 1861 caaaagctct gtggaaggga gctggtgctc gtgtatttcg atcctcaccc cagtttggtg 1921 taactttgct gacttacgaa ttgctacagc gatggttcta cattgatttt ggaggagtaa 1981 aacccatggg atcagagcca gttcctaaat ccaggatcaa cctgcctgcc ccgaatcctg 2041 atcacgttgg gggctacaaa ctggcagttg ctacatttgc agggattgaa aacaaatttg 2101 gactttacct acctctcttc aagccatcag tatctacctc aaaggctatt ggtggaggcc 2161 cataggaaga tcagccctgg gatagtgctg tctttttgtg ggtactgcag taaagaacat 2221 ccctcctggg aatgaagcaa tgcttcatcc cttttacgtc catctcttgt ttaaattcaa 2281 gtccaggctt ttttatcatg tgaaatcatt cattttctgg gtgttttctt aaccagatca 2341 ttgtgaaatt attcataatt attatttggc cctctgccca gaaacctttg tttgcatctg 2401 aaaattgatg ggatttggtc aacactaaca tgatttgggg aaaggagcaa gtcagaatag 2461 aaattagtac tcccctcctt gaactaggat tgtagtccca aagaggctac tgtaaggcaa 2521 tcatggtgct cagagcagtg tttcgtgtgt gttttaaact ggtaggaaac taggtgcata 2581 tttataaaaa taaaaaacac tgggagaaat gaaaaaatat atatcaaata tattcagcct 2641 ggcttcaaat tgtaagcatg cacaaattct gtctctggat tatattatga agcttttatg 2701 tgaaacatgt ttctttgtaa tgaaaaccac attggagatg tttagtaatc atattgttac 2761 tggtaccaag actactaggg aaatgccttt gtactttagg gaagtacttt tggcatttta 2821 ctgtacagac agaaaaaact gagatgtagc ccctctcctg gaagtgctaa ttttgaaaaa 2881 ctgctcatat gatgtacatg tactgattac tgcctatttt aataaacact cttgaaaaat 2941 gcatgttgcc ctgttgctgc ctgccctatt ctcctcatct ccccatcatt ggtacccact 3001 tgcttttaaa atccacttta tcttgaataa tgtaagacaa atatgttctg acataagtat 3061 ttaattcatg ttgccttgca taatggtcag aggcgcatga atttgtgaag gtggaaataa 3121 actatttgta aagtgaaaaa aaaaaaaaaa //