Details of Protein

General Information of Protein (ID: PRT00450)
Name Methylcrotonoyl-CoA carboxylase alpha (MCCC1)
Synonyms   Click to Show/Hide Synonyms of This Protein
MCCase subunit alpha; 3-methylcrotonyl-CoA carboxylase 1; 3-methylcrotonyl-CoA carboxylase biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha; MCCC1; MCCA
Gene Name MCCC1 Gene ID
56922
UniProt ID
Q96RQ3
Family Ligases (EC 6)
EC Number   EC: 6.4.1.4  (Click to Show/Hide the Complete EC Tree)
Ligase
Carbon-carbon ligase
Carbon-carbon ligase
EC: 6.4.1.4
  Click to Show/Hide the Molecular/Functional Data (Sequence/Structure/Function) of This Protein
Sequence
MAAASAVSVLLVAAERNRWHRLPSLLLPPRTWVWRQRTMKYTTATGRNITKVLIANRGEI
ACRVMRTAKKLGVQTVAVYSEADRNSMHVDMADEAYSIGPAPSQQSYLSMEKIIQVAKTS
AAQAIHPGCGFLSENMEFAELCKQEGIIFIGPPPSAIRDMGIKSTSKSIMAAAGVPVVEG
YHGEDQSDQCLKEHARRIGYPVMIKAVRGGGGKGMRIVRSEQEFQEQLESARREAKKSFN
DDAMLIEKFVDTPRHVEVQVFGDHHGNAVYLFERDCSVQRRHQKIIEEAPAPGIKSEVRK
KLGEAAVRAAKAVNYVGAGTVEFIMDSKHNFCFMEMNTRLQVEHPVTEMITGTDLVEWQL
RIAAGEKIPLSQEEITLQGHAFEARIYAEDPSNNFMPVAGPLVHLSTPRADPSTRIETGV
RQGDEVSVHYDPMIAKLVVWAADRQAALTKLRYSLRQYNIVGLHTNIDFLLNLSGHPEFE
AGNVHTDFIPQHHKQLLLSRKAAAKESLCQAALGLILKEKAMTDTFTLQAHDQFSPFSSS
SGRRLNISYTRNMTLKDGKNNVAIAVTYNHDGSYSMQIEDKTFQVLGNLYSEGDCTYLKC
SVNGVASKAKLIILENTIYLFSKEGSIEIDIPVPKYLSSVSSQETQGGPLAPMTGTIEKV
FVKAGDKVKAGDSLMVMIAMKMEHTIKSPKDGTVKKVFYREGAQANRHTPLVEFEEEESD
KRESE
Structure
2EJM
Function Biotin-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.
Regulatory Network
Full List of Metabolite(s) Regulated by This Protein
      Nucleosides, nucleotides, and analogues
            ATP Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation ( c.1263dupG, p.Q421AfsX10; c.1263dupG/c.1682-3A>G, p.Q421AfsX10/p.N561KfsX10) of MCCC1
                      Induced Change ATP concentration: decrease
                      Summary Introduced Variation         Induced Change 
                      Disease Status Lipid metabolism disorders [ICD-11: 5C52]
                      Details It is reported that mutation ( c.1263dupG, p.Q421AfsX10; c.1263dupG/c.1682-3A>G, p.Q421AfsX10/p.N561KfsX10) of MCCC1 leads to the decrease of ATP levels compared with control group.
References
1 A 3-methylcrotonyl-CoA carboxylase deficient human skin fibroblast transcriptome reveals underlying mitochondrial dysfunction and oxidative stress. Int J Biochem Cell Biol. 2016 Sep;78:116-129.

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