LOCUS AF261884 2304 bp mRNA linear HUM 22-JUN-2001
DEFINITION Homo sapiens 3-methylcrotonyl-CoA carboxylase subunit MCCB (MCCB)
mRNA, complete cds.
ACCESSION AF261884
VERSION AF261884.1
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 2304)
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 2304)
AUTHORS Holzinger,A.
TITLE Direct Submission
JOURNAL Submitted (28-APR-2000) Department of Clinical Chemistry and
Metabolism, Dr. V. Hauner Children's Hospital, Lindwurmstrasse 4,
Munich 80337, Germany
FEATURES Location/Qualifiers
source 1..2304
/db_xref="H-InvDB:HIT000075304_03"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="5"
gene 1..2304
/gene="MCCB"
CDS 74..1765
/gene="MCCB"
/note="non-biotin-containing subunit"
/codon_start=1
/product="3-methylcrotonyl-CoA carboxylase subunit MCCB"
/protein_id="AAK49409.1"
/translation="MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQE
NYKQMKALVNQLHERVEHIKLGGGEKARALHISRGKLLPRERIDNLIDPGSPFLELSQ
FAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIA
MQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGRTFYNQAIMSSKNIAQIAVVMGSCTA
GGAYVPAMADENIIVRKQGTIFLAGPPLVKAATGEEVSAEDLGGADLHCRKSGVSDHW
ALDDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGIVGANLKRSFDVREV
IARIVDGSRFTEFKAFYGDTLVTGFARIFGYPVGIVGNNGVLFSESAKKGTHFVQLCC
QRNIPLLFLQNITGFMVGREYEAEGIAKDGAKMVAAVACAQVPKITLIIGGSYGAGNY
GMCGRAYSPRFLYIWPNARISVMGGEQAANVLATITKDQRAREGKQFSSADEAALKEP
IIKKFEEEGNPYYSSARVWDDGIIDPADTRLVLGLSFSAALNAPIEKTDFGIFRM"
BASE COUNT 634 a 495 c 562 g 613 t
ORIGIN
1 gccagggaag cggcagggga aagcaccggc tccaggccag cgtgggccgc tctctcgctc
61 ggtgcccgcc gccatgtggg ccgtcctgag gttagccctg cggccgtgtg cccgcgcctc
121 tcccgccggg ccgcgcgcct atcacgggga ctcggtggcc tcgctgggca cccagccgga
181 cttgggctct gccctctacc aggagaacta caagcagatg aaagcactag taaatcagct
241 ccatgaacga gtggagcata taaaactagg aggtggtgag aaagcccgag cacttcacat
301 atcaagagga aaactattgc ccagagaaag aattgacaat ctcatagacc cagggtctcc
361 atttctggaa ttatcccagt ttgcaggtta ccagttatat gacaatgagg aggtgccagg
421 aggtggcatt attacaggca ttggaagagt atcaggagta gaatgcatga ttattgccaa
481 tgatgccacc gtcaaaggag gtgcctacta cccagtgact gtgaaaaaac aattacgggc
541 ccaagaaatt gccatgcaaa acaggctccc ctgcatctac ttagttgatt cgggaggagc
601 atacttacct cgacaagcag atgtgtttcc agatcgagac cactttggcc gtacattcta
661 taatcaggca attatgtctt ctaaaaatat tgcacagatc gcagtggtca tgggctcctg
721 caccgcagga ggagcctatg tgcctgccat ggctgatgaa aacatcattg tacgcaagca
781 gggtaccatt ttcttggcag gacccccctt ggttaaagcg gcaactgggg aagaagtatc
841 tgctgaggat cttggaggtg ctgatcttca ttgcagaaag tctggagtaa gtgaccactg
901 ggctttggat gatcatcatg cccttcactt aactaggaag gttgtgagga atctaaatta
961 tcagaagaaa ttggatgtca ccattgaacc ttctgaagag cctttatttc ctgctgatga
1021 attgtatgga atagttggtg ctaaccttaa gaggagcttt gatgtccgag aggtcattgc
1081 tagaatcgtg gatggaagca gattcactga gttcaaagcc ttttatggag acacattagt
1141 tacaggattt gctcgaatat ttgggtaccc agtaggtatc gttggaaaca acggagttct
1201 cttttctgaa tctgcaaaaa agggtactca ctttgtccag ttatgctgcc aaagaaatat
1261 tcctctgctg ttccttcaaa acattactgg atttatggtt ggtagagagt atgaagctga
1321 aggaattgcc aaggatggtg ccaagatggt ggccgctgtg gcctgtgccc aagtgcctaa
1381 gataaccctc atcattgggg gctcctatgg agccggaaac tatgggatgt gtggcagagc
1441 gtatagccca agatttctct acatttggcc aaatgctcgt atctcagtga tgggaggaga
1501 gcaggcagcc aatgtgttgg ccacgataac aaaggaccaa agagcccggg aaggaaagca
1561 gttctccagt gctgatgaag cggctttaaa agagcccatc attaagaagt ttgaagagga
1621 aggaaaccct tactattcca gcgcaagggt atgggatgat gggatcattg atccagcaga
1681 caccagactg gtcttgggtc tcagttttag tgcagccctc aacgcaccaa tagagaagac
1741 tgacttcggt atcttcagga tgtaactgga ataaaggatg ttttctgttg gacatgtact
1801 gaaaattaac acatgtagta gccttaaaat ttagacttct cgaacatgag gctgttacag
1861 taaatttttt aaacactgtg cattgtactt ttctacctta aaaaaatcag tgaggatatt
1921 tatttaatga acatcaattc cttttaaatt ttcttagaga aatttctctg tggctcagtt
1981 ttaccaccca taaagcggag acagtaattt atggttatcc tttctgaccc cacaaagtat
2041 gaaaagttct gtaatctgta aactcagttc tgtaatctgt attattgaga tgattaatat
2101 aaagttgtat tttcactgaa atgattgttt tgctggttat gcttggtgat attttagcgg
2161 gcttattttt gaaaggcatc tgttacttca gttgcataaa gtgccctcac actgctgtgc
2221 agccattacc accattcatc tccagaattt gttctcagtc ccaaactgaa actataccat
2281 tcaaacaaca gcgctcccca tttc
//