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 //