Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial

NameMethylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
Synonyms3-methylcrotonyl-CoA carboxylase 1 3-methylcrotonyl-CoA carboxylase biotin-containing subunit 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha 6.4.1.4 MCCA MCCase subunit alpha
Gene NameMCCC1
OrganismHuman
Amino acid sequence
>lcl|BSEQ0000887|Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
MAAASAVSVLLVAAERNRWHRLPSLLLPPRTWVWRQRTMKYTTATGRNITKVLIANRGEI
ACRVMRTAKKLGVQTVAVYSEADRNSMHVDMADEAYSIGPAPSQQSYLSMEKIIQVAKTS
AAQAIHPGCGFLSENMEFAELCKQEGIIFIGPPPSAIRDMGIKSTSKSIMAAAGVPVVEG
YHGEDQSDQCLKEHARRIGYPVMIKAVRGGGGKGMRIVRSEQEFQEQLESARREAKKSFN
DDAMLIEKFVDTPRHVEVQVFGDHHGNAVYLFERDCSVQRRHQKIIEEAPAPGIKSEVRK
KLGEAAVRAAKAVNYVGAGTVEFIMDSKHNFCFMEMNTRLQVEHPVTEMITGTDLVEWQL
RIAAGEKIPLSQEEITLQGHAFEARIYAEDPSNNFMPVAGPLVHLSTPRADPSTRIETGV
RQGDEVSVHYDPMIAKLVVWAADRQAALTKLRYSLRQYNIVGLHTNIDFLLNLSGHPEFE
AGNVHTDFIPQHHKQLLLSRKAAAKESLCQAALGLILKEKAMTDTFTLQAHDQFSPFSSS
SGRRLNISYTRNMTLKDGKNNVAIAVTYNHDGSYSMQIEDKTFQVLGNLYSEGDCTYLKC
SVNGVASKAKLIILENTIYLFSKEGSIEIDIPVPKYLSSVSSQETQGGPLAPMTGTIEKV
FVKAGDKVKAGDSLMVMIAMKMEHTIKSPKDGTVKKVFYREGAQANRHTPLVEFEEEESD
KRESE
Number of residues725
Molecular Weight80472.45
Theoretical pI7.86
GO Classification
Functions
    methylcrotonoyl-CoA carboxylase activity
ATP binding
biotin binding
biotin carboxylase activity
metal ion binding
Processes
    biotin metabolic process
branched-chain amino acid catabolic process
leucine catabolic process
vitamin metabolic process
water-soluble vitamin metabolic process
cellular nitrogen compound metabolic process
small molecule metabolic process
Components
    cytosol
mitochondrion
mitochondrial inner membrane
mitochondrial matrix
General FunctionMethylcrotonoyl-coa carboxylase activity
Specific FunctionBiotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism.
Transmembrane Regions
GenBank Protein ID12382296
UniProtKB IDQ96RQ3
UniProtKB Entry NameMCCA_HUMAN
Cellular LocationMitochondrion matrix
Gene sequence
>lcl|BSEQ0010310|Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (MCCC1)
ATGGGTGTGGAGGCAAAGAACCATGAAGTACACAACAGCCACAGGCAGATGAAGCATATT
CCATCGGCCCCGCTCCCTCCCAGCAGAGCTACCTATCTATGGAGAAAATCATTCAAGTGG
CCAAGACCTCTGCTGCACAGCACATCCAAATCCATAATGGCTGCTGCTGGAGTACCTGTT
GTGGAGGGTTATCATGGTGAGGACCAATCAGACCAGTGCCTGAAGGAACACGCCAGGAGA
ATTGGCTATCCTGTCATGATTAAAGCCGTCCGGGGTGGAGGAGGAAAAGGAATGAGGATT
GTTAGATCAGAACAAGAATTTCAAGAACAGTTAGAGTCAGCACGGAGAGAAGCTAAGAAG
TCTTTCAATGATGATGCTATGCTGATCGAGAAGTTTGTAGACACACCGAGGCATGTAGAA
GTCCAGGTGTTTGGTGATCACCATGGCAATGCTGTGTACTTGTTTGAAAGAGACTGTAGT
GTGCAGAGGCGACATCAGAAGATCATTGAGGAGGCCCCAGCGCCTGGTATTAAATCTGAA
GTAAGAAAAAAGCTGGGAGAAGCTGCAGTCAGAGCTGCTAAAGCTGTAAATTATGTTGGA
GCAGGGACTGTGGAGTTTATTATGGACTCAAAACATAATTTCTGTTTCATGGAGATGAAT
ACAAGGCTGCAAGTGGAACATCCTGTTACTGAGATGATCACAGGAACTGACTTGGTGGAG
TGGCAGCTTAGAATTGCAGCAGGAGAGAAGATTCCTTTGAGCCAGGAAGAAATAACTCTG
CAGGGCCATGCCTTCGAAGCTAGAATATATGCAGAAGATCCTAGCAATAACTTCATGCCT
GTGGCAGGCCCATTAGTGCACCTCTCTACTCCTCGAGCAGACCCTTCCACCAGGATTGAA
ACTGGAGTACGGCAAGGAGACGAAGTTTCCGTGCATTATGACCCCATGATTGCGAAGCTG
GTCGTGTGGGCAGCAGATCGCCAGGCGGCATTGACAAAACTGAGGTACAGCCTTCGTCAG
TACAATATTGTTGGACTGCACACCAACATTGACTTCTTACTCAACCTGTCTGGCCACCCA
GAGTTTGAAGCTGGGAACGTGCACACTGATTTCATCCCTCAACACCACAAACAGTTGTTG
CTCAGTCGGAAGGCTGCAGCCAAAGAGTCTTTATGCCAGGCAGCCCTGGGTCTCATCCTC
AAGGAGAAAGCCATGACCGACACTTTCACTCTTCAGGCACATGATCAATTCTCTCCATTT
TCGTCTAGCAGTGGAAGAAGACTGAATATCTCGTATACCAGAAACATGACTCTTAAAGAT
GGTAAAAACAATGTAGCCATAGCTGTAACGTATAACCATGATGGGTCTTATAGCATGCAG
ATTGAAGATAAAACTTTCCAAGTCCTTGGTAATCTTTACAGCGAGGGAGACTGCACTTAC
CTGAAATGTTCTGTTAATGGAGTTGCTAGTAAAGCGAAGCTGATTATCCTGGAAAACACT
ATTTACCTATTTTCCAAGGAAGGAAGTATTGAGATTGACATTCCAGTCCCCAAATACTTA
TCTTCTGTGAGCTCACAAGAAACTCAGGGCGGCCCCTTAGCTCCTATGACTGGAACCATT
GAAAAGGTGTTTGTCAAAGCTGGAGACAAAGTGAAAGCGGGAGATTCCCTCATGGTTATG
ATCGCCATGAAGATGGAGCATACCATAAAGTCTCCAAAGGATGGCACAGTAAAGAAAGTG
TTCTACAGAGAAGGTGCTCAGGCCAACAGACACACTCCTTTAGTCGAGTTTGAGGAGGAA
GAATCAGACAAAAGGGAATCGGAATAA
GenBank Gene IDAF310972
GeneCard IDNone
GenAtlas IDMCCC1
HGNC IDHGNC:6936
Chromosome Location3
Locus3q27
References
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  2. Obata K, Fukuda T, Morishita R, Abe S, Asakawa S, Yamaguchi S, Yoshino M, Ihara K, Murayama K, Shigemoto K, Shimizu N, Kondo I: Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression. Genomics. 2001 Mar 1;72(2):145-52.[11401427 ]
  3. Holzinger A, Roschinger W, Lagler F, Mayerhofer PU, Lichtner P, Kattenfeld T, Thuy LP, Nyhan WL, Koch HG, Muntau AC, Roscher AA: Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. Hum Mol Genet. 2001 Jun 1;10(12):1299-306.[11406611 ]
  4. Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D: The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest. 2001 Feb;107(4):495-504.[11181649 ]
  5. Stadler SC, Polanetz R, Meier S, Mayerhofer PU, Herrmann JM, Anslinger K, Roscher AA, Roschinger W, Holzinger A: Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase. Biochem Biophys Res Commun. 2005 Sep 2;334(3):939-46.[16023992 ]
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  9. Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8.[25944712 ]
  10. Dantas MF, Suormala T, Randolph A, Coelho D, Fowler B, Valle D, Baumgartner MR: 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. Hum Mutat. 2005 Aug;26(2):164.[16010683 ]
  11. Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, Hasegawa Y, Kobayashi H, Ihara K, Yoshino M, Watanabe Y, Inokuchi T, Yokoyama T, Kiwaki K, Nakamura K, Endo F, Tsuchiya S, Ohura T: Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. J Hum Genet. 2007;52(12):1040-3. Epub 2007 Oct 30.[17968484 ]
  12. Nguyen KV, Naviaux RK, Patra S, Barshop BA, Nyhan WL: Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. Mol Genet Metab. 2011 Feb;102(2):218-21. doi: 10.1016/j.ymgme.2010.10.008. Epub 2010 Oct 20.[21071250 ]
  13. Cho SY, Park HD, Lee YW, Ki CS, Lee SY, Sohn YB, Park SW, Kim SH, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Paik KH, Lee DH, Jin DK: Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. Clin Genet. 2012 Jan;81(1):96-8. doi: 10.1111/j.1399-0004.2011.01704.x.[22150417 ]
  14. Morscher RJ, Grunert SC, Burer C, Burda P, Suormala T, Fowler B, Baumgartner MR: A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. Mol Genet Metab. 2012 Apr;105(4):602-6. doi: 10.1016/j.ymgme.2011.12.018. Epub 2011 Dec 31.[22264772 ]
  15. Grunert SC, Stucki M, Morscher RJ, Suormala T, Burer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kolker S, Moslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet J Rare Dis. 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31.[22642865 ]
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Related FRC

FRCD ID Name Exact Mass Structure




F04729



Biotin


244.309