LOCUS AF297332 2580 bp mRNA linear HUM 28-JUN-2001
DEFINITION Homo sapiens 3-methylcrotonyl-CoA carboxylase biotin-containing
subunit (MCCA) mRNA, complete cds.
ACCESSION AF297332
VERSION AF297332.1
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 2580)
AUTHORS Holzinger,A., Roschinger,W., Lagler,F., Mayerhofer,P.U.,
Lichtner,P., Kattenfeld,T., Thuy,L.P., Nyhan,W.L., Koch,H.G.,
Muntau,A.C. and Roscher,A.A.
TITLE Cloning of the human MCCA and MCCB genes and mutations therein
reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase
deficiency
JOURNAL Hum. Mol. Genet. 10 (12), 1299-1306 (2001)
PUBMED 11406611
REFERENCE 2 (bases 1 to 2580)
AUTHORS Holzinger,A.
TITLE Direct Submission
JOURNAL Submitted (18-AUG-2000) Department of Clinical Chemistry and
Metabolism, Dr. v. Hauner Childrens Hospital, Lindwurmstrasse 4,
Munich 80337, Germany
FEATURES Location/Qualifiers
source 1..2580
/db_xref="H-InvDB:HIT000076604"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
gene 1..2580
/gene="MCCA"
CDS 167..2344
/gene="MCCA"
/note="MCCA; subunit A"
/codon_start=1
/product="3-methylcrotonyl-CoA carboxylase
biotin-containing subunit"
/protein_id="AAK67986.1"
/translation="MAAASAVSVLLVAAERNRWHRLPSLLLPPRTWVWRQRTMKYTTA
TGRNITKVLIANRGEIACRVMRTAKKLGVQTVAVYSEADRNSMHVDMADEAYSIGPAP
SQQSYLSMEKIIQVAKTSAAQAIHPGCGFLSENMEFAELCKQEGIIFIGPPPSAIRDM
GIKSTSKSIMAAAGVPVVEGYHGEDQSDQCLKEHARRIGYPVMIKAVRGGGGKGMRIV
RSEQEFQEQLESARREAKKSFNDDAMLIEKFVDTPRHVEVQVFGDHHGNAVYLFERDC
SVQRRHQKIIEEAPAPGIKSEVRKKLGEAAVRAAKAVNYVGAGTVEFIMDSKHNFCFM
EMNTRLQVEHPVTEMITGTDLVEWQLRIAAGEKIPLSQEEITLQGHAFEARIYAEDPS
NNFMPVAGPLVHLSTPRADPSTRIETGVRQGDEVSVHYDPMIAKLVVWAADRQAALTK
LRYSLRQYNIVGLPTNIDLLLNLSGHPEFEAGNVHTDFIPQHHKQLLLSRKAAAKESL
CQAALGLILKEKAMTDTFTLQAHDQFSPFSSSSGRRLNISYTRNMTLKDGKNNVAIAV
TYNHDGSYSMQIEDKTFQVLGNLYSEGDCTYLKCSVNGVASKAKLIILENTIYLFSKE
GSIEIDIPVPKYLSSVSSQETQGGPLAPMTGTIEKVFVKAGDKVKAGDSLMVMIAMKM
EHTIKSPKDGTVKKVFYREGAQANRHTPLVEFEEEESDKRESE"
BASE COUNT 756 a 544 c 673 g 607 t
ORIGIN
1 gtagcgaggc ttgggtggcg aactcggcac gaggcccaaa ggtaggctca ggctccgacg
61 gtggccggcg ggggtcacga ggcttcgtag tggaggaacg ggtttggcgt gtgggacgca
121 gctgcctctg tactggggag tcacggagtg gccgggctcc agggacatgg cggcggcctc
181 tgcggtgtcg gtgctgctgg tggcggcgga gaggaaccgg tggcatcgtc tcccgagcct
241 gctcctgccg ccgaggacat gggtgtggag gcaaagaacc atgaagtaca caacagccac
301 aggaagaaac attaccaagg tcctcattgc aaacagagga gaaattgcct gcagggtgat
361 gcgcacagcc aaaaaactgg gtgtacagac tgtggcggtt tatagtgagg ctgacagaaa
421 ttccatgcat gtagatatgg cagatgaagc atattccatc ggccccgctc cctcccagca
481 gagctaccta tctatggaga aaatcattca agtggccaag acctctgctg cacaggctat
541 ccatccagga tgcggttttc tttcagaaaa catggaattt gctgaacttt gtaagcaaga
601 aggaattatt tttataggcc ctcctccatc tgcaattaga gacatgggta taaagagcac
661 atccaaatcc ataatggctg ctgctggagt acctgttgtg gagggttatc atggtgagga
721 ccaatcagac cagtgcctga aggaacacgc caggagaatt ggctatcctg tcatgattaa
781 agccgtccgg ggtggaggag gaaaaggaat gaggattgtt agatcagaac aagaatttca
841 agaacagtta gagtcagcac ggagagaagc taagaagtct ttcaatgatg atgctatgct
901 gatcgagaag tttgtagaca caccgaggca tgtagaagtc caggtgtttg gtgatcacca
961 tggcaatgct gtgtacttgt ttgaaagaga ctgtagtgtg cagaggcgac atcagaagat
1021 cattgaggag gccccagcgc ctggtattaa atctgaagta agaaaaaagc tgggagaagc
1081 tgcagtcaga gctgctaaag ctgtaaatta tgttggagca gggactgtgg agtttattat
1141 ggactcaaaa cataatttct gtttcatgga gatgaataca aggctgcaag tggaacatcc
1201 tgttactgag atgatcacag gaactgactt ggtggagtgg cagcttagaa ttgcagcagg
1261 agagaagatt cctttgagcc aggaagaaat aactctgcag ggccatgcct tcgaagctag
1321 aatatatgca gaagatccta gcaataactt catgcctgtg gcaggcccat tagtgcacct
1381 ctctactcct cgagcagacc cttccaccag gattgaaact ggagtacggc aaggagacga
1441 agtttccgtg cattatgacc ccatgattgc gaagctggtc gtgtgggcag cagatcgcca
1501 ggcggcattg acaaaactga ggtacagcct tcgtcagtac aatattgttg gactgcccac
1561 caacattgat ctcttactca acctgtctgg ccacccagag tttgaagctg ggaacgtgca
1621 cactgatttc atccctcaac accacaaaca gttgttgctc agtcggaagg ctgcagccaa
1681 agagtcttta tgccaggcag ccctgggtct catcctcaag gagaaagcca tgaccgacac
1741 tttcactctt caggcacatg atcaattctc tccattttcg tctagcagtg gaagaagact
1801 gaatatctcg tataccagaa acatgactct taaagatggt aaaaacaatg tagccatagc
1861 tgtaacgtat aaccatgatg ggtcttatag catgcagatt gaagataaaa ctttccaagt
1921 ccttggtaat ctttacagcg agggagactg cacttacctg aaatgttctg ttaatggagt
1981 tgctagtaaa gcgaagctga ttatcctgga aaacactatt tacctatttt ccaaggaagg
2041 aagtattgag attgacattc cagtccccaa atacttatct tctgtgagct cacaagaaac
2101 tcagggcggc cccttagctc ctatgactgg aaccattgaa aaggtgtttg tcaaagctgg
2161 agacaaagtg aaagcgggag attccctcat ggttatgatc gccatgaaga tggagcatac
2221 cataaagtct ccaaaggatg gcacagtaaa gaaagtgttc tacagagaag gtgctcaggc
2281 caacagacac actcctttag tcgagtttga ggaggaagaa tcagacaaaa gggaatcgga
2341 ataaactcca gcaaggaaat ggccagttaa gtagtgtctt ctctctccac caaaaagagg
2401 aagtgcctcc agcttttctg ggggtctcat aaagagcagt tttactaaat gattgtatgc
2461 ttatgctgaa cacctttcat attggagaat catgcatttg ggtcactaat tatctcaaaa
2521 tatttcatac taataaagtt gaattatttt ttattggaag ccaaaaaaaa aaaaaaaaaa
//