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
//