LOCUS AF310971 2170 bp mRNA linear HUM 23-FEB-2001 DEFINITION Homo sapiens 3-methylcrotonyl-CoA carboxylase beta subunit (MCCB) mRNA, complete cds. ACCESSION AF310971 VERSION AF310971.1 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 2170) AUTHORS Gallardo,M.E., Desviat,L.R., Rodriguez,J.M., Esparza-Gordillo,J., Perez-Cerda,C., Perez,B., Rodriguez-Pombo,P., Criado,O., Sanz,R., Morton,D.H., Gibson,K.M., Le,T.P., Ribes,A., Rodriguez de Cordoba,S., Ugarte,M. and Penalva,M.A. TITLE The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism JOURNAL Am. J. Hum. Genet. 68 (2), 334-346 (2001) PUBMED 11170888 REFERENCE 2 (bases 1 to 2170) AUTHORS Penalva,M.A., Rodriguez,J.M., Gallardo,M.E., Esparza,J., Ruiz-Desviat,L., Perez-Cerda,C., Perez,B., Rodriguez-Pombo,P., Ugarte,M. and Rodriguez de Cordoba,S. TITLE Direct Submission JOURNAL Submitted (04-OCT-2000) Microbiologia Molecular, Centro de Investigaciones Biologicas CSIC, Velazquez 144, Madrid 28006, Spain FEATURES Location/Qualifiers source 1..2170 /db_xref="H-InvDB:HIT000076995_03" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="5" /map="5q12-q13" gene 1..2170 /gene="MCCB" CDS 121..1812 /gene="MCCB" /EC_number="6.4.1.4" /note="biotin carboxylase" /codon_start=1 /product="3-methylcrotonyl-CoA carboxylase beta subunit" /protein_id="AAG53094.1" /translation="MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQE NYKQMKALVNQLHERVEHIKLGGGEKARALHISRGKLLPRERIDNLIDPGSPFLELSQ FAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIA MQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGRTFYNQAIMSSKNIAQIAVVMGSCTA GGAYVPAMADENIIVRKQGTIFLAGPPLVKAATGEEVSAEDLGGADLHCRKSGVSDHW ALDDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGIVGANLKRSFDVREV IARIVDGSRFTEFKAFYGDTLVTGFARIFGYPVGIVGNNGVLFSESAKKGTHFVQLCC QRNIPLLFLQNITGFMVGREYEAEGIAKDGAKMVAAVACAQVPKITLIIGGSYGAGNY GMCGRAYSPRFLYIWPNARISVMGGEQAANVLATITKDQRAREGKQFSSADEAALKEP IIKKFEEEGNPYYSSARVWDDGIIDPADTRLVLGLSFSAALNAPIEKTDFGIFRM" BASE COUNT 597 a 465 c 545 g 563 t ORIGIN 1 gaagccttct ctggggctgc aaggacctga gctcagcttc cgccccagcc agggaagcgg 61 caggggaaag caccggctcc aggccagcgt gggccgctct ctcgctcggt gcccgccgcc 121 atgtgggccg tcctgaggtt agccctgcgg ccgtgtgccc gcgcctctcc cgccgggccg 181 cgcgcctatc acggggactc ggtggcctcg ctgggcaccc agccggactt gggctctgcc 241 ctctaccagg agaactacaa gcagatgaaa gcactagtaa atcagctcca tgaacgagtg 301 gagcatataa aactaggagg tggtgagaaa gcccgagcac ttcacatatc aagaggaaaa 361 ctattgccca gagaaagaat tgacaatctc atagacccag ggtctccatt tctggaatta 421 tcccagtttg caggttacca gttatatgac aatgaggagg tgccaggagg tggcattatt 481 acaggcattg gaagagtatc aggagtagaa tgcatgatta ttgccaatga tgccaccgtc 541 aaaggaggtg cctactaccc agtgactgtg aaaaaacaat tacgggccca agaaattgcc 601 atgcaaaaca ggctcccctg catctactta gttgattcgg gaggagcata cttacctcga 661 caagcagatg tgtttccaga tcgagaccac tttggccgta cattctataa tcaggcaatt 721 atgtcttcta aaaatattgc acagatcgca gtggtcatgg gctcctgcac cgcaggagga 781 gcctatgtgc ctgccatggc tgatgaaaac atcattgtac gcaagcaggg taccattttc 841 ttggcaggac cccccttggt taaagcggca actggggaag aagtatctgc tgaggatctt 901 ggaggtgctg atcttcattg cagaaagtct ggagtaagtg accactgggc tttggatgat 961 catcatgccc ttcacttaac taggaaggtt gtgaggaatc taaattatca gaagaaattg 1021 gatgtcacca ttgaaccttc tgaagagcct ttatttcctg ctgatgaatt gtatggaata 1081 gttggtgcta accttaagag gagctttgat gtccgagagg tcattgctag aatcgtggat 1141 ggaagcagat tcactgagtt caaagccttt tatggagaca cattagttac aggatttgct 1201 cgaatatttg ggtacccagt aggtatcgtt ggaaacaacg gagttctctt ttctgaatct 1261 gcaaaaaagg gtactcactt tgtccagtta tgctgccaaa gaaatattcc tctgctgttc 1321 cttcaaaaca ttactggatt tatggttggt agagagtatg aagctgaagg aattgccaag 1381 gatggtgcca agatggtggc cgctgtggcc tgtgcccaag tgcctaagat aaccctcatc 1441 attgggggct cctatggagc cggaaactat gggatgtgtg gcagagcgta tagcccaaga 1501 tttctctaca tttggccaaa tgctcgtatc tcagtgatgg gaggagagca ggcagccaat 1561 gtgttggcca cgataacaaa ggaccaaaga gcccgggaag gaaagcagtt ctccagtgct 1621 gatgaagcgg ctttaaaaga gcccatcatt aagaagtttg aagaggaagg aaacccttac 1681 tattccagcg caagggtatg ggatgatggg atcattgatc cagcagacac cagactggtc 1741 ttgggtctca gttttagtgc agccctcaac gcaccaatag agaagactga cttcggtatc 1801 ttcaggatgt aactggaata aaggatgttt tctgttggac atgtactgaa aattaacaca 1861 tgtagtagcc ttaaaatttt agacttctcg aacatgaggc tgttacagta atttttttaa 1921 cactgtgcat tgtacttttc taccttaaaa aaatcagtga ggatatttat ttaatgaaca 1981 tcaattcctt ttaaattttc ttagagaaat ttctctgtgg ctcagtttta ccacccataa 2041 agcggagaca gtaatttatg gttatccttt ctgacccaca aagtatgaaa agttctgtaa 2101 tctgtaaact cagttctgta atctgtatta ttgagatgat taatataaag ttgtattttc 2161 actgaaaatg //