Property Summary

NCBI Gene PubMed Count 30
Grant Count 2
Funding $279,817.5
PubMed Score 79.84
PubTator Score 45.52

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma -1.397 0.000
primary pancreatic ductal adenocarcinoma -1.798 0.000
interstitial cystitis -1.900 0.000
lung adenocarcinoma -1.100 0.000
pancreatic cancer -1.200 0.001

Synonym

Accession Q96RQ3 Q59ES4 Q9H959 Q9NS97 MCCase subunit alpha
Symbols MCCA
MCC-B

Gene

PANTHER Protein Class (1)

 Grant Application (2)

PDB

2EJM  

Gene RIF (15)

PMID Text
26362536 HIV-1 Gag interacts with MCCC1 as demonstrated by proximity dependent biotinylation proteomics
25382614 Novel mutations in MCCC1 gene were identified in Chinese population. The expression profiles of two splice mutations (c.639+2T>A and c.639+5G>T) were also characterized.
24078573 Four new point mutations were detected in the MCCC1 gene in patients with maternal 3-methylcrotonyl coenzyme deficiency.
23496138 This study demonistrated that Mainland China demonstrates that MCCC1/LAMP3 (rs11711441) is associated with a lower risk of Parkinson's disease.
22264772 Mutation in 3-methylcrotonyl CoA carboxylase 1 gene is associated with 3-methylcrotonyl-CoA carboxylase deficiency.
22189597 3-methylcrotonyl-CoA carboxylase inhibition has a role in increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients
22150417 study reports eight different mutant alleles of MCCC1 or MCCC2 including six novel mutations in Korean patients with 3-methylcrotonyl-CoA carboxylase (MCC) deficiency
21071250 identified two novel MCCA and four novel MCCB mutant alleles from five MCC-deficient patients
20877624 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
More...

AA Sequence

MAAASAVSVLLVAAERNRWHRLPSLLLPPRTWVWRQRTMKYTTATGRNITKVLIANRGEIACRVMRTAKK      1 - 70
LGVQTVAVYSEADRNSMHVDMADEAYSIGPAPSQQSYLSMEKIIQVAKTSAAQAIHPGCGFLSENMEFAE     71 - 140
LCKQEGIIFIGPPPSAIRDMGIKSTSKSIMAAAGVPVVEGYHGEDQSDQCLKEHARRIGYPVMIKAVRGG    141 - 210
GGKGMRIVRSEQEFQEQLESARREAKKSFNDDAMLIEKFVDTPRHVEVQVFGDHHGNAVYLFERDCSVQR    211 - 280
RHQKIIEEAPAPGIKSEVRKKLGEAAVRAAKAVNYVGAGTVEFIMDSKHNFCFMEMNTRLQVEHPVTEMI    281 - 350
TGTDLVEWQLRIAAGEKIPLSQEEITLQGHAFEARIYAEDPSNNFMPVAGPLVHLSTPRADPSTRIETGV    351 - 420
RQGDEVSVHYDPMIAKLVVWAADRQAALTKLRYSLRQYNIVGLHTNIDFLLNLSGHPEFEAGNVHTDFIP    421 - 490
QHHKQLLLSRKAAAKESLCQAALGLILKEKAMTDTFTLQAHDQFSPFSSSSGRRLNISYTRNMTLKDGKN    491 - 560
NVAIAVTYNHDGSYSMQIEDKTFQVLGNLYSEGDCTYLKCSVNGVASKAKLIILENTIYLFSKEGSIEID    561 - 630
IPVPKYLSSVSSQETQGGPLAPMTGTIEKVFVKAGDKVKAGDSLMVMIAMKMEHTIKSPKDGTVKKVFYR    631 - 700
EGAQANRHTPLVEFEEEESDKRESE                                                 701 - 725
//

Text Mined References (34)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25382614 2015 Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.
25064009 2014 Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24078573 2013 [Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency].
23496138 2013 MCCC1/LAMP3 reduces risk of sporadic Parkinson's disease in Han Chinese.
22869039 2013 Structure and function of biotin-dependent carboxylases.
22642865 2012 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
More...