LOCUS AF310339 2528 bp mRNA linear HUM 01-MAR-2001
DEFINITION Homo sapiens 3-methylcrotonyl-CoA carboxylase alpha subunit (MCCA)
mRNA, complete cds.
ACCESSION AF310339
VERSION AF310339.1
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 2528)
AUTHORS Baumgartner,M.R., Almashanu,S., Suormala,T., Obie,C., Cole,R.N.,
Packman,S., Baumgartner,E.R. and Valle,D.
TITLE The molecular basis of human 3-methylcrotonyl-CoA carboxylase
deficiency
JOURNAL J. Clin. Invest. 107 (4), 495-504 (2001)
PUBMED 11181649
REFERENCE 2 (bases 1 to 2528)
AUTHORS Baumgartner,M.R., Almashanu,S. and Valle,D.
TITLE Direct Submission
JOURNAL Submitted (03-OCT-2000) Pediatrics, Johns Hopkins University PCTB
803, 725 N. Wolfe St., Baltimore, MD 21205, USA
FEATURES Location/Qualifiers
source 1..2528
/db_xref="H-InvDB:HIT000076988"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3q25-q27"
gene 1..2528
/gene="MCCA"
CDS 133..2310
/gene="MCCA"
/note="biotin-dependent carboxylase; biotin-binding"
/codon_start=1
/product="3-methylcrotonyl-CoA carboxylase alpha subunit"
/protein_id="AAG50245.1"
/translation="MAAASAVSVLLVAAERNRWHRLPSLLLPPRTWVWRQRTMKYTTA
TGRNITKVLIANRGEIACRVMRTAKKLGVQTVAVYSEADRNSMHVDMADEAYSIGPAP
SQQSYLSMEKIIQVAKTSAAQAIHPGCGFLSENMEFAELCKQEGIIFIGPPPSAIRDM
GIKSTSKSIMAAAGVPVVEGYHGEDQSDQCLKEHARRIGYPVMIKAVRGGGGKGMRIV
RSEQEFQEQLESARREAKKSFNDDAMLIEKFVDTPRHVEVQVFGDHHGNAVYLFERDC
SVQRRHQKIIEEAPAPGIKSEVRKKLGEAAVRAAKAVNYVGAGTVEFIMDSKHNFCFM
EMNTRLQVEHPVTEMITGTDLVEWQLRIAAGEKIPLSQEEITLQGHAFEARIYAEDPS
NNFMPVAGPLVHLSTPRADPSTRIETGVRQGDEVSVHYDPMIAKLVVWAADRQAALTK
LRYSLRQYNIVGLPTNIDFLLNLSGHPEFEAGNVHTDFIPQHHKQLLLSRKAAAKESL
CQAALGLILKEKAMTDTFTLQAHDQFSPFSSSSGRRLNISYTRNMTLKDGKNNVAIAV
TYNHDGSYSMQIEDKTFQVLGNLYSEGDCTYLKCSVNGVASKAKLIILENTIYLFSKE
GSIEIDIPVPKYLSSVSSQETQGGPLAPMTGTIEKVFVKAGDKVKAGDSLMVMIAMKM
EHTIKSPKDGTVKKVFYREGAQANRHTPLVEFEEEESDKRESE"
BASE COUNT 731 a 539 c 656 g 602 t
ORIGIN
1 cccaaaggta ggctcaggct ccgacggtgg cccgcggggg tcacgaggct tcgtagtgga
61 ggaacgggtt tggcgtgtgg gacgcagctg cctctgtact ggggagtcac ggagtggccg
121 ggctccaggg acatggcggc ggcctctgcg gtgtcggtgc tgctggtggc ggcggagagg
181 aaccggtggc atcgtctccc gagcctgctc ctgccgccga ggacatgggt gtggaggcaa
241 agaaccatga agtacacaac agccacagga agaaacatta ccaaggtcct cattgcaaac
301 agaggagaaa ttgcctgcag ggtgatgcgc acagccaaaa aactgggtgt acagactgtg
361 gcggtttata gtgaggctga cagaaattcc atgcatgtag atatggcaga tgaagcatat
421 tccatcggcc ccgctccctc ccagcagagc tacctatcta tggagaaaat cattcaagtg
481 gccaagacct ctgctgcaca ggctatccat ccaggatgcg gttttctttc agaaaacatg
541 gaatttgctg aactttgtaa gcaagaagga attattttta taggccctcc tccatctgca
601 attagagaca tgggtataaa gagcacatcc aaatccataa tggctgctgc tggagtacct
661 gttgtggagg gttatcatgg tgaggaccaa tcagaccagt gcctgaagga acacgccagg
721 agaattggct atcctgtcat gattaaagcc gtccggggtg gaggaggaaa aggaatgagg
781 attgttagat cagaacaaga atttcaagaa cagttagagt cagcacggag agaagctaag
841 aagtctttca atgatgatgc tatgctgatc gagaagtttg tagacacacc gaggcatgta
901 gaagtccagg tgtttggtga tcaccatggc aatgctgtgt acttgtttga aagagactgt
961 agtgtgcaga ggcgacatca gaagatcatt gaggaggccc cagcgcctgg tattaaatct
1021 gaagtaagaa aaaagctggg agaagctgca gtcagagctg ctaaagctgt aaattatgtt
1081 ggagcaggga ctgtggagtt tattatggac tcaaaacata atttctgttt catggagatg
1141 aatacaaggc tgcaagtgga acatcctgtt actgagatga tcacaggaac tgacttggtg
1201 gagtggcagc ttagaattgc agcaggagag aagattcctt tgagccagga agaaataact
1261 ctgcagggcc atgccttcga agctagaata tatgcagaag atcctagcaa taacttcatg
1321 cctgtggcag gcccattagt gcacctctct actcctcgag cagacccttc caccaggatt
1381 gaaactggag tacggcaagg agacgaagtt tccgtgcatt atgaccccat gattgcgaag
1441 ctggtcgtgt gggcagcaga tcgccaggcg gcattgacaa aactgaggta cagccttcgt
1501 cagtacaata ttgttggact gcccaccaac attgacttct tactcaacct gtctggccac
1561 ccagagtttg aagctgggaa cgtgcacact gatttcatcc ctcaacacca caaacagttg
1621 ttgctcagtc ggaaggctgc agccaaagag tctttatgcc aggcagccct gggtctcatc
1681 ctcaaggaga aagccatgac cgacactttc actcttcagg cacatgatca attctctcca
1741 ttttcgtcta gcagtggaag aagactgaat atctcgtata ccagaaacat gactcttaaa
1801 gatggtaaaa acaatgtagc catagctgta acgtataacc atgatgggtc ttatagcatg
1861 cagattgaag ataaaacttt ccaagtcctt ggtaatcttt acagcgaggg agactgcact
1921 tacctgaaat gttctgttaa tggagttgct agtaaagcga agctgattat cctggaaaac
1981 actatttacc tattttccaa ggaaggaagt attgagattg acattccagt ccccaaatac
2041 ttatcttctg tgagctcaca agaaactcag ggcggcccct tagctcctat gactggaacc
2101 attgaaaagg tgtttgtcaa agctggagac aaagtgaaag cgggagattc cctcatggtt
2161 atgatcgcca tgaagatgga gcataccata aagtctccaa aggatggcac agtaaagaaa
2221 gtgttctaca gagaaggtgc tcaggccaac agacacactc ctttagtcga gtttgaggag
2281 gaagaatcag acaaaaggga atcggaataa actccagcaa ggaaatggcc agttaagtag
2341 tgtcttctct ctccaccaaa aagaggaagt gcctccagct tttctggggg tctcataaag
2401 agcagtttta ctaaatgatt gtatgcttat gctgaacccc tttcatattg gagaatcatg
2461 catttgggtc actaattatc tcaaaatatt tcatactaat aaagttgaat tattttttat
2521 tggaagcc
//