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
//