LOCUS BC093048 1572 bp mRNA linear HUM 17-JUL-2006
DEFINITION Homo sapiens Bernardinelli-Seip congenital lipodystrophy 2
(seipin), mRNA (cDNA clone MGC:111115 IMAGE:30384952), complete
cds.
ACCESSION BC093048
VERSION BC093048.1
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 1572)
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 1572)
CONSRTM NIH MGC Project
TITLE Direct Submission
JOURNAL Submitted (04-APR-2005) 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. Michael Brownstein
cDNA Library Preparation: Invitrogen Corp
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: 196 Row: g Column: 15
This clone was selected for full length sequencing because it
passed the following selection criteria: matched mRNA gi: 40068504.
FEATURES Location/Qualifiers
source 1..1572
/db_xref="H-InvDB:HIT000334539"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/clone="MGC:111115 IMAGE:30384952"
/tissue_type="Pituitary"
/clone_lib="NIH_MGC_179"
/lab_host="DH10B"
/note="Vector: pCMV-SPORT6.1"
gene 1..1572
/gene="BSCL2"
/gene_synonym="MGC4694"
/db_xref="GeneID:26580"
/db_xref="HGNC:HGNC:15832"
/db_xref="MIM:606158"
CDS 254..1450
/gene="BSCL2"
/gene_synonym="MGC4694"
/codon_start=1
/product="Bernardinelli-Seip congenital lipodystrophy 2
(seipin)"
/protein_id="AAH93048.1"
/db_xref="GeneID:26580"
/db_xref="HGNC:HGNC:15832"
/db_xref="MIM:606158"
/translation="MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWV
SVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMY
GQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLD
TLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHA
HFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRK
RDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQP
LSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQR
PTCSSS"
BASE COUNT 367 a 451 c 409 g 345 t
ORIGIN
1 cacgttttag ccacaagtga ctcagtggaa gatccagagt caacagaggc tcgtcaggaa
61 gatgtctaca gaaaaggtag accaaaagga ggaagctggg gaaaaagagg tgtgcggaga
121 ccagatcaaa ggaccggaca aagaggagga accaccagct gctgcatccc atggccaggg
181 gtggcgtcca ggtggcagag cagctaggaa cgcaaggcct gaacctgggg ccagacaccc
241 tgctctcccg gccatggtca acgaccctcc agtacctgcc ttactgtggg cccaggaggt
301 gggccaagtc ttggcaggcc gtgcccgcag gctgctgctg cagtttgggg tgctcttctg
361 caccatcctc cttttgctct gggtgtctgt cttcctctat ggctccttct actattccta
421 tatgccgaca gtcagccacc tcagccctgt gcatttctac tacaggaccg actgtgattc
481 ctccaccacc tcactctgct ccttccctgt tgccaatgtc tcgctgacta agggtggacg
541 tgatcgggtg ctgatgtatg gacagccgta tcgtgttacc ttagagcttg agctgccaga
601 gtcccctgtg aatcaagatt tgggcatgtt cttggtcacc atttcctgct acaccagagg
661 tggccgaatc atctccactt cttcgcgttc ggtgatgctg cattaccgct cagacctgct
721 ccagatgctg gacacactgg tcttctctag cctcctgcta tttggctttg cagagcagaa
781 gcagctgctg gaggtggaac tctacgcaga ctatagagag aactcgtacg tgccgaccac
841 tggagcgatc attgagatcc acagcaagcg catccagctg tatggagcct acctccgcat
901 ccacgcgcac ttcactgggc tcagatacct gctatacaac ttcccgatga cctgcgcctt
961 cataggtgtt gccagcaact tcaccttcct cagcgtcatc gtgctcttca gctacatgca
1021 gtgggtgtgg gggggcatct ggccccgaca ccgcttctct ttgcaggtta acatccgaaa
1081 aagagacaat tcccggaagg aagtccaacg aaggatctct gctcatcagc cagggcctga
1141 aggccaggag gagtcaactc cgcaatcaga tgttacagag gatggtgaga gccctgaaga
1201 tccctcaggg acagagggtc agctgtccga ggaggagaaa ccagatcagc agcccctgag
1261 cggagaagag gagctagagc ctgaggccag tgatggttca ggctcctggg aagatgcagc
1321 tttgctgacg gaggccaacc tgcctgctcc tgctcctgct tctgcttctg cccctgtcct
1381 agagactctg ggcagctctg aacctgctgg gggtgctctc cgacagcgcc ccacctgctc
1441 tagttcctga agaaaagggg cagactcctc acattccagc actttcccac ctgactcctc
1501 tcccctcgtt tttccttcaa taaactattt tgtgtcaaaa aaaaaaaaaa aaaaaaaaaa
1561 aaaaaaaaaa aa
//