LOCUS       BC060813                3053 bp    mRNA    linear   HUM 18-MAR-2009
DEFINITION  Homo sapiens Alport syndrome, mental retardation, midface
            hypoplasia and elliptocytosis chromosomal region gene 1, mRNA (cDNA
            clone MGC:71655 IMAGE:30344824), complete cds.
ACCESSION   BC060813
VERSION     BC060813.1
KEYWORDS    MGC.
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 3053)
  AUTHORS   Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G.,
            Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D.,
            Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K.,
            Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F.,
            Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L.,
            Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L.,
            Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S.,
            Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J.,
            Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J.,
            McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S.,
            Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W.,
            Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A.,
            Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S.,
            Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y.,
            Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D.,
            Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M.,
            Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E.,
            Schnerch,A., Schein,J.E., Jones,S.J. and Marra,M.A.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 99 (26), 16899-16903 (2002)
   PUBMED   12477932
REFERENCE   2  (bases 1 to 3053)
  CONSRTM   NIH MGC Project
  TITLE     Direct Submission
  JOURNAL   Submitted (03-NOV-2003) National Institutes of Health, Mammalian
            Gene Collection (MGC), Bethesda, MD 20892-2590, USA
  REMARK    NIH-MGC Project URL: http://mgc.nci.nih.gov
COMMENT     Contact: MGC help desk
            Email: cgapbs-r@mail.nih.gov
            Tissue Procurement: Dr. Stefan Hansson
            cDNA Library Preparation: Michael Brownstein /  Ted Usdin
            Laboratory
            cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL)
            DNA Sequencing by: Sequencing Group at the Stanford Human Genome
            Center, Stanford University School of Medicine, Stanford, CA  94305
            Web site:       http://www-shgc.stanford.edu
            Contact:  (Dickson, Mark) mcd@paxil.stanford.edu
            Dickson, M., Schmutz, J., Grimwood, J., Rodriquez, A., and Myers,
            R. M.
            
            Clone distribution: MGC clone distribution information can be found
            through the I.M.A.G.E. Consortium/LLNL at: http://image.llnl.gov
            Series: IRAK Plate: 133 Row: h Column: 21
            This clone was selected for full length sequencing because it
            passed the following selection criteria: matched mRNA gi: 70995167.
FEATURES             Location/Qualifiers
     source          1..3053
                     /db_xref="H-InvDB:HIT000260115"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /clone="MGC:71655 IMAGE:30344824"
                     /tissue_type="Placenta, normal"
                     /clone_lib="NIH_MGC_147"
                     /lab_host="DH10B"
                     /note="Vector: pBluescriptR"
     gene            1..3053
                     /gene="AMMECR1"
                     /gene_synonym="AMMERC1"
                     /db_xref="GeneID:9949"
                     /db_xref="HGNC:HGNC:467"
                     /db_xref="MIM:300195"
     CDS             15..905
                     /gene="AMMECR1"
                     /gene_synonym="AMMERC1"
                     /codon_start=1
                     /product="Alport syndrome, mental retardation, midface
                     hypoplasia and elliptocytosis chromosomal region gene 1"
                     /protein_id="AAH60813.1"
                     /db_xref="GeneID:9949"
                     /db_xref="HGNC:HGNC:467"
                     /db_xref="MIM:300195"
                     /translation="MAAGCCGVKKQKLSSSPPSGSGGGGGASSSSHCSGESQCRAGEL
                     GLGGAGTRLNGLGGLTGGGSGSGCTLSPPQGCGGGGGGIALSPPPSCGVGTLLSTPAA
                     ATSSSPSSSSAASSSSPGSRKMVVSAEMCCFCFDVLYCHLYGYQQPRTPRFTNEPYAL
                     KDSRFPPMTRDELPRLFCSVSLLTNFEDVCDYLDWEVGVHGIRIEFINEKGSKRTATY
                     LPEVAKEQGWDHIQTIDSLLRKGGYKAPITNEFRKTIKLTRYRSEKMTLSYAEYLAHR
                     QHHHFQNGIGHPLPPYNHYS"
BASE COUNT          864 a          620 c          639 g          930 t
ORIGIN      
        1 aagactgttc caagatggcg gcgggttgct gcggggtgaa gaagcagaaa ctgtccagtt
       61 cgcccccctc tggctcgggt ggcggtggtg gcgcctcctc ctcctcccac tgcagcggag
      121 agagccagtg ccgagctggg gagctgggac taggaggcgc cggtacgcgg ctcaacgggc
      181 tgggaggtct aaccggagga ggtagcggca gcggctgtac cctctctccc ccccagggct
      241 gcggcggcgg cggcgggggg atcgccctgt cgccacctcc gagctgcgga gtggggaccc
      301 tactttctac cccggccgcc gccacctctt cctcaccctc ctcatcgtcc gccgcctcgt
      361 cctcatcgcc gggctcccgg aagatggtgg tgtcagcaga gatgtgctgc ttttgcttcg
      421 atgtgctcta ctgtcacctg tatggatacc agcagccccg gaccccccga ttcaccaacg
      481 agccctatgc ccttaaagat agccgttttc ccccaatgac aagggatgag ctgccacggc
      541 ttttctgctc agtgtctctg ctcactaact ttgaagatgt ctgtgattat ttggactggg
      601 aggtgggtgt acatggcatt agaatagaat tcatcaatga aaaaggatca aaacgcaccg
      661 ccacctacct accggaggtt gcaaaggagc aaggatggga ccatatacag accatagact
      721 ccttattgag gaaaggagga tacaaagctc cgattactaa tgaattcagg aaaaccataa
      781 aactgaccag gtatcgtagt gaaaagatga ccctgagcta tgctgaatac cttgctcatc
      841 gccagcatca tcatttccaa aatggcattg ggcatcccct tccgccatac aaccattatt
      901 cctgacactg agccgcacaa ccagtcactg ggcctctctg cagacctctt cccaggagac
      961 cctacacctt cttggtctag ctatctcttt tactgtacca ttttatgatg atagtttccg
     1021 ttgccatggt gaagcttcga catcgtcaac taagatcatc atggtaacgg gtagaaaaat
     1081 ggcatttgtt aagatcctgt tttattattt tagatcgttg attttttttt tgcagcatat
     1141 ataattttgg gttttttttt ccttataata ttatgtagaa ttttgctttg ctgtctcagt
     1201 caggtttctg tttttctgtc ctccttgcct ttcttcccgt tttgcttcct gttttccttc
     1261 ttccttcccg ttttccttct tccttccctg cctcccttcc tttgactgtg gatggaagaa
     1321 agtgtgcagt ttttagggat tttacttagg ttcgtcttta gttttcctca gtaagatagt
     1381 tgttttttga tacctgagtt tgggattaat tcatatcaaa ttcaggtatt tgtatattac
     1441 tcttgatttt tgtctgaaat tcactttgct atgacagcct agtagttggg tcttcactcc
     1501 ttaagtatat gtttttccca tggtgaaaat acatgaactt tagttctagt agtgagcatt
     1561 caaaggtccg tgatagggct tgtcacagag agagagaaat catttatccc tattgtgctg
     1621 gttatcatag aagagactgc ctcaccactt tatagaacca atttgcaaac taaaacactg
     1681 tttggagaag gtacaaacta cctttcaaaa aggctacagg aaacatttta tgagcagcaa
     1741 atattaggaa gagagcagat acagaattta gtgcctttga gaagaatata attaagtgga
     1801 attaagaggg gttagaaaaa aggcaattta gaaaaatatt cttgtaaaac tttattgttt
     1861 ctatatgtga aacagaagat tagacaaatt ccttactctt aagtattttt ttaagctgaa
     1921 aaaaaattat tttgagcaaa taaccaataa gagacatttg tctattttat attaatttaa
     1981 atttgttagc tctaggtttc aataagtcat gattggctag aatccatttt agctaccatc
     2041 taaagatatg gtaaagataa tttagtaaaa caaaagttca tatttgccat gatttcagat
     2101 atgtttgtca tggggacaat attagagttt tagagatact ataaaatagc ttgaatttct
     2161 ttctgcacta catacttttg atagaaacac atttactaca ttgataagat gttatgtcac
     2221 acctgtgaaa atggagttgg cattcagata tgctatagtt agagcccagc tcatctgcaa
     2281 gtatagtctt cccatgatgc atacaaagat aacttactga tgtcgatagg aggtccatac
     2341 atatatcccc aggaaaaatg acagattatt ctggaggaag atgaccttca ttttatggtt
     2401 atgtgtgtgt gtctgtgtgt ctttggaaaa atatatataa ttttttcaaa taggaagcca
     2461 acatatcaag tgatgaatta aagtatgctg cagaatatat attctaaaac tacaaaaaag
     2521 tcactgaata tcaaaatgat acagcttata catatagtta ctgtgacaag tgacagactg
     2581 ctagttcaga attcaaaaat cctttcctag tttgtgagat aatgggctaa attccttctg
     2641 cctgccactg gggcaaagca aattgcttta gtttttgatg agagttctta gaagtttgtt
     2701 ggtattcctt catccacagc atccattgtt gaaataacca ttttcagttg tgatgcctta
     2761 actaagaagc caattgttag cctgaaatgc aatcttggta gccagtttca atgaagctag
     2821 agattagtca gaaaaagtta gctgttgggc tttagaaagg gattttgagt cctgtcattt
     2881 ctacttgggg gcattttgga gcagattagt ctttcagtat aaaaacaagt ggctacctga
     2941 tggaaacttt tcttaccctt atagggaaac tgagcacaag ctgaatgata ttgtctgctg
     3001 caaaaaaaaa caaacaaaca aaaaacaaaa caaaaaacaa aaaaaaaaaa aaa
//