LOCUS AF467440 3206 bp mRNA linear HUM 02-FEB-2004
DEFINITION Homo sapiens Smith-Magenis syndrome chromosome region candidate 8
protein (SMCR8) mRNA, complete cds.
ACCESSION AF467440
VERSION AF467440.1
KEYWORDS .
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 3206)
AUTHORS Bi,W., Yan,J., Stankiewicz,P., Park,S.S., Walz,K., Boerkoel,C.F.,
Potocki,L., Shaffer,L.G., Devriendt,K., Nowaczyk,M.J., Inoue,K. and
Lupski,J.R.
TITLE Genes in a refined Smith-Magenis syndrome critical deletion
interval on chromosome 17p11.2 and the syntenic region of the mouse
JOURNAL Genome Res. 12 (5), 713-728 (2002)
PUBMED 11997338
REFERENCE 2 (bases 1 to 3206)
AUTHORS Bi,W., Yan,J., Stankiewicz,P., Park,S.-S., Inoue,K. and Lupski,J.R.
TITLE Direct Submission
JOURNAL Submitted (08-JAN-2002) Molecular and Human Genetics, Baylor
College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
FEATURES Location/Qualifiers
source 1..3206
/db_xref="H-InvDB:HIT000080355"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17p11.2; SMS chromosome region"
gene 1..3206
/gene="SMCR8"
CDS 389..2752
/gene="SMCR8"
/codon_start=1
/product="Smith-Magenis syndrome chromosome region
candidate 8 protein"
/protein_id="AAL78337.1"
/translation="MISAPDVVAFTKEEEYEEEPYNEPALPEEYSVPLFPFASQGANP
WSKLSGAKFSRDFILISEFSEQVGPQPLLTIPNDTKVFGTFDLNYFSLRIMSVDYQAS
FVGHPPGSAYPKLNFVEDSKVVLGDSKEGAFAYVHHLTLYDLEARGFVRPFCMAYISA
DQHKIMQQFQELSAEFSRASECLKTGNRKAFAGELEKKLKDLDYTRTVLHTETEIQKK
ANDKGFYSSQAIEKANELASVEKSIIEHQDLLKQIRSYPHRKLKGHDLCPGEMEHIQD
QASQASTTSNPDESADTDLYTCRPAYTPKLIKAKSTKCFDKKLKTLEELCDTEYFTQT
LAQLSHIEHMFRGDLCYLLTSQIDRALLKQQHITNFLFEDFVEVDDRMVEKQESIPSK
PSQDRPPSSSLEECPIPKVLISVGSYKSSVESVLIKMEQELGDEEYKEVEVTELSSFD
PQENLDYLDMDMKGSISSGESIEVLGTEKSTSVLSKSDSQASLTVPLSPQVVRSKAVS
HRTISEDSIEVLSTCPSEALIPDDFKASYPSAINEEESYPDGNEGAIRFQASISPPEL
GETEEGSIENTPSQIDSSCCIGKESDGQLVLPSTPAHTHSDEDGVVSSPPQRHRQKDQ
GFRVDFSVENANPSSRDNSCEGFPAYELDPSHLLASRDISKTSLDNYSDTTSYVSSVA
STSSDRIPSAYPAGLSSDRHKKRAGQNALKFIRQYPFAHPAIYSLLSGRTLVVLGEDE
AIVRKLVTALAIFVPSYGCYAKPVKHWASSPLHIMDFQKWKLIGLQR"
BASE COUNT 787 a 893 c 822 g 704 t
ORIGIN
1 cccctgcggc gtcccgtagc ctcgcgttaa gccttgttca gagcgggggc ttttgctgtc
61 gcagtgggtt ccggagagtg caggtgattt cgcagcaggt ttcttgtgct ggccgcgctc
121 gccggacgaa gaagagaagg gcagttgggc ctgcggcctt ggcgttcatg aggcctcaga
181 gagctccgga ggagctacaa ctgtgagggg gctgctagag ttcttctcct cgggtgtgtg
241 agaagcagcc taggaccccg ggttcgggga gtcgcaaaga aggccgtaag ggcttcactt
301 ccttctccgg aggcctgcct tctgcgcgtc gattaacacc gcattctttc ccacttcctc
361 tcaatgtttt cttcatatat ctggaaatat gatcagcgcc cctgacgtag tggccttcac
421 caaagaggaa gagtatgaag aagagcctta caatgagccg gccctgcctg aggagtactc
481 ggtgccgctc ttccccttcg ccagtcaggg tgctaacccc tggtcaaaac tgtccggggc
541 caagttttcg agggacttca ttcttatttc cgagttctct gagcaggtgg gaccccaacc
601 cttactgacc atccccaatg acaccaaagt ttttggcact tttgatctca attacttctc
661 cctgcgtatc atgtctgtgg attaccaggc ttccttcgtg ggccatcctc ctggatctgc
721 ctaccccaag ctgaacttcg tggaggactc caaggtggtg ctgggagatt ctaaggaggg
781 cgcctttgca tacgtgcacc accttaccct atacgacctg gaggcccgtg gcttcgtgag
841 gccgttttgc atggcttata tctctgcaga ccagcataaa atcatgcagc agttccagga
901 gctttcagcc gaattttcca gagcttctga gtgcttgaag actggcaaca ggaaggcatt
961 tgctggggaa cttgaaaaaa agctgaaaga cttggattac accaggacag tgctacacac
1021 agaaacggag atccagaaga aagccaacga caaaggcttt tactcatctc aggcaattga
1081 gaaagccaat gaactggcca gtgtggagaa gtccatcatt gaacatcaag acctgctgaa
1141 gcagatccgc tcataccctc atcggaagtt gaaggggcat gatttgtgtc ctggtgagat
1201 ggagcacatc caggatcagg ccagccaggc atccactacc tctaaccctg atgagtctgc
1261 cgacacagac ctttacacct gcagaccagc ctacacccca aaacttatca aagcaaagtc
1321 caccaagtgt tttgacaaga agttgaagac cttggaggag ctctgtgaca ctgaatattt
1381 cacccagacc ctggctcagc tcagccacat tgaacacatg ttcagaggag acctgtgtta
1441 cctcctgacc agtcagattg atagagcact tctaaaacaa cagcatataa caaactttct
1501 ctttgaagac tttgtggagg tcgatgacag gatggtggag aaacaagaaa gcataccctc
1561 taagcccagt caagacaggc cgccttccag ttctctagaa gaatgcccaa ttcctaaagt
1621 gttaattagt gttggttctt acaagtccag tgtggagtct gtgttgatca agatggagca
1681 ggaactggga gatgaggagt acaaggaagt ggaagtgact gagttgagca gtttcgaccc
1741 ccaggaaaac ttggactacc tggatatgga tatgaaaggg agtatcagca gtggtgaaag
1801 tattgaagtt ttgggcacgg agaaatccac ctccgtgctt tctaaatctg acagccaggc
1861 aagcctcaca gtaccattga gcccccaggt ggtccggagc aaagcagtca gccacaggac
1921 catcagcgag gacagtattg aagtcctcag tacctgcccc tctgaggccc tcatccctga
1981 tgactttaag gccagctacc caagtgccat taatgaagaa gaatcatatc cagatggcaa
2041 tgaaggagcc atccgcttcc aggcaagcat cagtcctcca gaactgggtg agacagagga
2101 aggcagcata gaaaacaccc catcacaaat agactcctcc tgctgtattg ggaaggagag
2161 cgatggtcag ttggtgctgc cctccactcc agcccacaca cactctgacg aggatggggt
2221 ggtgagcagc cccccacagc gccacaggca gaaggaccag gggttccgtg tagacttttc
2281 agtggaaaat gccaaccctt cttcccgaga caacagttgt gaagggtttc ccgcttatga
2341 gctggacccg agccacctgc tggctagccg ggacatcagt aagaccagcc tggacaacta
2401 ctcagacacc accagctacg tgagcagtgt agcgtccacc agctcagaca ggatcccctc
2461 tgcttatcct gctggcctgt cttccgatag gcataaaaag agggctggcc agaacgcctt
2521 aaaattcatc cgccagtacc cctttgccca cccagccatc tactccctgc tcagtgggag
2581 gacacttgtg gtcctggggg aagatgaggc catagtcagg aaactcgtga ctgcactggc
2641 tatctttgtc cccagctatg gctgctacgc taagcccgtg aaacattggg cctcctcccc
2701 tttgcacatt atggattttc agaagtggaa gcttattggc ttgcagaggt aaagtggcct
2761 cccctgccgg tgccggtacc ctccatgccc tgagccgcta cagccgctac acgagcatcc
2821 tggaccttga caacaaaacc ctgcgctgcc ccctttacag aggcaccctg gtgccccgcc
2881 tggcagacca ccgcacacag atcaagcggg gcagcaccta ctacctgcat gtccagagca
2941 tgctcaccca gctctgctcc aaggccttcc tctacacctt ctgccaccac ctgcacctgc
3001 ctacccacga caaggagaca gaggagctgg tagccagccg ccagatgagc ttcctaaagc
3061 tgaccctggg tctggtgaat gaggatgtta gggtggtcca gtacctggct gagctgctga
3121 agctgcacta catgcaggaa tctccaggga ccagccaccc catgctcagg tttgactatg
3181 tccccagctt tttgtataaa atctga
//