LOCUS BC023995 1372 bp mRNA linear HUM 18-MAR-2009
DEFINITION Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblD
type, with homocystinuria, mRNA (cDNA clone MGC:24534
IMAGE:4103877), complete cds.
ACCESSION BC023995
VERSION BC023995.1
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 1372)
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 1372)
CONSRTM NIH MGC Project
TITLE Direct Submission
JOURNAL Submitted (07-FEB-2002) 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: ATCC
cDNA Library Preparation: CLONTECH Laboratories, Inc.
cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL)
DNA Sequencing by: Institute for Systems Biology
http://www.systemsbiology.org
contact: amadan@systemsbiology.org
Anup Madan, Jessica Fahey, Erin Helton, Mark Ketteman, Anuradha
Madan, Stephanie Rodrigues, Amy Sanchez and Michelle Whiting
Clone distribution: MGC clone distribution information can be found
through the I.M.A.G.E. Consortium/LLNL at: http://image.llnl.gov
Series: IRAL Plate: 32 Row: e Column: 18.
FEATURES Location/Qualifiers
source 1..1372
/db_xref="H-InvDB:HIT000039712"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/clone="MGC:24534 IMAGE:4103877"
/tissue_type="Brain, glioblastoma"
/clone_lib="NIH_MGC_57"
/lab_host="DH10B"
/note="Vector: pDNR-LIB"
gene 1..1372
/gene="MMADHC"
/gene_synonym="cblD"
/gene_synonym="CL25022"
/db_xref="GeneID:27249"
/db_xref="HGNC:HGNC:25221"
/db_xref="MIM:611935"
CDS 120..1010
/gene="MMADHC"
/gene_synonym="cblD"
/gene_synonym="CL25022"
/codon_start=1
/product="methylmalonic aciduria (cobalamin deficiency)
cblD type, with homocystinuria"
/protein_id="AAH23995.1"
/db_xref="GeneID:27249"
/db_xref="HGNC:HGNC:25221"
/db_xref="MIM:611935"
/translation="MANVLCNRARLVSYLPGFCSLVKRVVNPKAFSTAGSSGSDESHV
AAAPPDICSRTVWPDETMGPFGPQDQRFQLPGNIGFDCHLNGTASQKKSLVHKTLPDV
LAEPLSSERHEFVMAQYVNEFQGNDAPVEQEINSAETYFESARVECAIQTCPELLRKD
FESLFPEVANGKLMILTVTQKTKNDMTVWSEEVEIEREVLLEKFINGAKEICYALRAE
GYWADFIDPSSGLAFFGPYTNNTLFETDERYRHLGFSVDDLGCCKVIRHSLWGTHVVV
GSIFTNATPDSHIMKKLSGN"
BASE COUNT 427 a 234 c 288 g 423 t
ORIGIN
1 gggggccgcc attttgatgg caggaagagt ccggttctgg gacagctgga gacagtggtg
61 gtgactgaaa taactttacc aaaggaaagc tattttgcga actatcttct ccagcggaga
121 tggccaatgt gctttgtaac agagccagac tggtttccta tctcccagga ttttgctctt
181 tagttaaaag ggttgtcaat cccaaagcct tttcgactgc aggatcatca ggttcggatg
241 agtctcatgt ggctgctgca cctccagata tatgctctcg aacagtgtgg cctgatgaaa
301 ctatgggacc ctttggacct caagatcaga ggttccagct tcctgggaac ataggttttg
361 attgtcacct caatgggact gcttcacaga agaaaagcct ggttcataaa actttgcctg
421 atgttctagc agaaccttta tcaagtgaaa gacatgagtt tgtgatggca caatatgtga
481 atgaatttca gggtaatgat gcacctgttg aacaagaaat taacagtgca gaaacttact
541 ttgaaagtgc cagagtagag tgtgcaatac aaacatgtcc agaattgctg cgaaaagatt
601 ttgaatcact gtttccagaa gtagctaatg gcaaactaat gattctgact gtaacacaaa
661 aaactaagaa tgatatgact gtttggagtg aagaagtaga aattgaaaga gaagtgctct
721 tagaaaagtt catcaatggt gctaaggaaa tttgctatgc tcttcgagct gagggttatt
781 gggctgactt tattgaccca tcatctggtt tggcattttt tggaccatat acaaacaaca
841 ctctttttga aactgatgaa cgctaccgac atttaggatt ctctgttgat gaccttggat
901 gctgtaaagt gattcgtcat agtctctggg gtacccatgt agttgtaggg agtatcttca
961 ctaatgcaac accagacagc catattatga agaaattaag tggaaattag cagaaatatc
1021 cattcatttg ctgtactatt tgtatgtaat atttgggttg atctataaac actgtcagac
1081 taaagttttt aaaatatact tatttctaag tatttatttc agcatttatg aatttacaac
1141 attggcaagt gatttgggat tttaaaattg caaatgttca tttattcata tcattgaata
1201 cacgttgaac acatccacat tgtataggat gtggtaatta gcttgtaacc agggtatgat
1261 ctgctattgt tatttctcct ctttattgga aaaaggcctc agttttaatt attttcttcc
1321 caaaataaat cacacatttg gtttcaaaaa aaaaaaaaaa aaaaaaaaaa aa
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