LOCUS AF229180 3098 bp mRNA linear HUM 14-NOV-2000
DEFINITION Homo sapiens alpha-aminoadipate semialdehyde synthase mRNA,
complete cds.
ACCESSION AF229180
VERSION AF229180.1
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 3098)
AUTHORS Sacksteder,K.A., Biery,B.J., Morrell,J.C., Goodman,B.K.,
Geisbrecht,B.V., Cox,R.P., Gould,S.J. and Geraghty,M.T.
TITLE Identification of the alpha-aminoadipic semialdehyde synthase gene,
which is defective in familial hyperlysinemia
JOURNAL Am. J. Hum. Genet. 66 (6), 1736-1743 (2000)
PUBMED 10775527
REFERENCE 2 (bases 1 to 3098)
AUTHORS Sacksteder,K.A., Biery,B.J., Morrell,J.C., Goodman,B.K.,
Geisbrecht,B.V., Cox,R.P., Gould,S.J. and Geraghty,M.T.
TITLE Direct Submission
JOURNAL Submitted (28-JAN-2000) Biological Chemistry, Johns Hopkins
University School of Medicine, 725 North Wolfe Street, Baltimore,
MD 21205, USA
FEATURES Location/Qualifiers
source 1..3098
/db_xref="H-InvDB:HIT000074523"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="7q31.3"
CDS 70..2850
/function="converts lysine to alpha-aminoadipate
semialdehyde via saccharopine"
/note="bifunctional enzyme; mutated in hyperlysinemia;
AASS"
/codon_start=1
/product="alpha-aminoadipate semialdehyde synthase"
/protein_id="AAF44328.1"
/translation="MLQVHRTGLGRLGVSLSKGLHHKAVLAVRREDVNAWERRAPLAP
KHIKGITNLGYKVLIQPSNRRAIHDKDYVKAGGILQEDISEACLILGVKRPPEEKLMS
RKTYAFFSHTIKAQEANMGLLDEILKQEIRLIDYEKMVDHRGVRVVAFGQWAGVAGMI
NILHGMGLRLLALGHHTPFMHIGMAHNYRNSSQAVQAVRDAGYEISLGLMPKSIGPLT
FVFTGTGNVSKGAQAIFNELPCEYVEPHELKEVSQTGDLRKVYGTVLSRHHHLVRKTD
AVYDPAEYDKHPERYISRFNTDIAPYTTCLINGIYWEQNTPRLLTRQDAQSLLAPGKF
SPAGVEGCPALPHKLVAICDISADTGGSIEFMTECTTIEHPFCMYDADQHIIHDSVEG
SGILMCSIDNLPAQLPIEATECFGDMLYPYVEEMILSDATQPLESQNFSPVVRDAVIT
SNGTLPDKYKYIQTLRESRERAQSLSMGTRRKVLVLGSGYISEPVLEYLSRDGNIEIT
VGSDMKNQIEQLGKKYNINPVSMDICKQEEKLGFLVAKQDLVISLLPYVLHPLVAKAC
ITNKVNMVTASYITPALKELEKSVEDAGITIIGELGLDPGLDHMLAMETIDKAKEVGA
TIESYISYCGGLPAPEHSNNPLRYKFSWSPVGVLMNVMQSATYLLDGKVVNVAGGISF
LDAVTSMDFFPGLNLEGYPNRDSTKYAEIYGISSAHTLLRGTLRYKGYMKALNGFVKL
GLINREALPAFRPEANPLTWKQLLCDLVGISPSSEHDVLKEAVLKKLGGDNTQLEAAE
WLGLLGDEQVPQAESILDALSKHLVMKLSYGPEEKDMIVMRDSFGIRHPSGHLEHKTI
DLVAYGDINGFSAMAKTVGLPTAMAAKMLLDGEIGAKGLMGPFSKEIYGPILERIKAE
GIIYTTQSTIKP"
BASE COUNT 905 a 602 c 746 g 845 t
ORIGIN
1 gactcggaag attcgaggcg gcgggggaca agtcggcgcc ccagagcgga cgagtcacca
61 ggtgtcaaga tgctgcaagt acataggact ggactgggca ggctgggggt cagcctctcc
121 aagggtcttc accacaaagc tgtgttggcc gtccggaggg aggatgtgaa cgcctgggag
181 agaagggccc cgctagctcc caagcacatc aaaggcatca ccaatctggg atacaaggtc
241 ttgatacagc cttcgaatcg gcgggccatt catgataagg actatgtcaa agctggtggc
301 attcttcagg aggatatttc tgaagcttgt ctaattttag gagttaaaag acctccagag
361 gaaaaattaa tgtccaggaa gacttatgca tttttctccc acacaataaa agctcaggag
421 gccaatatgg gcttgttgga tgagattcta aaacaggaaa ttcgccttat tgattatgag
481 aaaatggtgg atcatagagg agtacgggta gtggcatttg gacagtgggc tggtgtggca
541 ggaatgatca acattttaca tggaatgggt ttaaggctcc ttgctttggg acatcacaca
601 ccttttatgc acattggcat ggctcataac tacaggaata gcagtcaggc tgtgcaagct
661 gtccgtgatg ctggctatga aatatctttg ggtttgatgc ctaagtcaat aggaccctta
721 acatttgtgt tcacaggaac tggtaatgtt tctaagggag cccaagcaat ctttaatgag
781 ctaccttgtg aatatgtgga gccccatgaa ttaaaagaag tttcccaaac tggagacctc
841 agaaaagtgt atgggacggt gttaagtcgt catcatcatc ttgtcaggaa aacagatgct
901 gtgtatgatc ctgcagagta tgacaaacat ccggagcgct acataagtcg ttttaatact
961 gatattgcac cctatacaac ttgcttaatt aatggaatct actgggaaca aaacactcct
1021 cgcctcctaa cccgccaaga tgctcagagt ctcctggctc cgggcaagtt ctcacctgct
1081 ggtgtggaag gctgccctgc attaccacac aaactcgtgg caatatgtga catttcagct
1141 gacacaggag ggtctataga gtttatgact gagtgtacaa caatagagca tcccttttgc
1201 atgtatgatg cagaccagca tattattcat gacagtgttg aaggctcggg gatcctgatg
1261 tgttccattg acaatttgcc ggcacagctc ccaattgaag ctacagaatg ctttggagac
1321 atgctttacc cttatgttga agaaatgata ttatcagacg cgacacagcc tcttgaaagt
1381 cagaattttt ctcctgtggt gagagatgca gtgattacat ccaacggtac attacctgat
1441 aaatataaat atatccagac actccgggag agcagggaac gtgctcagtc actttcaatg
1501 ggcaccagga gaaaggtttt ggttcttgga tctggctaca tatctgagcc tgtattagaa
1561 tatttatcaa gagatggcaa tatagaaata acagtaggat ctgacatgaa gaatcaaatt
1621 gaacagttag gcaagaaata taatattaat cctgttagca tggacatttg taaacaagaa
1681 gagaagctgg gcttcttggt ggcaaaacag gatcttgtca tcagcttgtt gccttatgta
1741 ttgcaccctc ttgtggccaa ggcctgcatc acaaacaaag ttaacatggt cactgcaagc
1801 tacatcacac cagcactaaa agaattggaa aagagtgtgg aagatgctgg catcacaatc
1861 attggtgaat tgggattgga ccctggtctg gatcacatgt tagcaatgga aacaatagat
1921 aaagccaagg aagtgggagc cacgattgaa tcatatattt cctactgtgg tgggcttcca
1981 gcccctgaac attcaaacaa tccattgaga tataaattta gctggagtcc agtgggagtt
2041 ttgatgaatg taatgcagtc tgccacctat ctgctcgatg gaaaggttgt gaatgttgca
2101 ggaggcatct cctttcttga tgccgttacg tccatggatt tttttccagg attaaatttg
2161 gaaggctatc ctaacagaga cagtacgaaa tatgctgaga tttatggcat ttcttctgct
2221 cacactttgt tgcgggggac actgagatat aagggatata tgaaagcttt gaatggattt
2281 gtaaaattag gtcttataaa cagagaagcg cttcctgcct ttagacctga ggccaaccct
2341 ctcacctgga aacaactcct ctgtgaccta gttgggattt caccctcctc tgagcatgat
2401 gtgttgaagg aagctgttct taagaaacta ggaggagaca atacccagtt ggaggctgct
2461 gaatggttgg gcttacttgg ggatgaacaa gttcctcagg cagagtccat tctggatgcc
2521 ctctccaagc atttggtcat gaagctttcc tatggtcctg aagaaaaaga tatgattgtg
2581 atgagagaca gctttggaat cagacatcct tctggacatt tagaacataa aacgattgat
2641 cttgtggctt atggggacat caatggcttt tcagccatgg ctaaaaccgt ggggttaccc
2701 accgccatgg cagccaaaat gttgcttgat ggtgaaattg gagccaaagg cctaatgggg
2761 cccttttcaa aggagatcta tggaccaata ttggagcgaa ttaaagcaga aggcattata
2821 tatactacac agagtacaat taaaccataa ttgggaatta tattttgttt ttttcttccc
2881 aggcaataca cctctgaaca tgtgtgtgat aaatgggttt gctaatgtgc tgttttaaag
2941 tataaagcat aatatgtttt ggttaacaca atgtactttt tgaactataa atctttattt
3001 taatatggaa atgtttggaa caggagatgc aagccactaa cagagaactt taataattct
3061 accctgtatt ttataaatac gtatgtgaaa gtgatgaa
//