Property Summary

NCBI Gene PubMed Count 30
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 2.3e-04
primary pancreatic ductal adenocarcinoma -1.798 4.9e-04
interstitial cystitis -1.900 1.6e-05
lung adenocarcinoma -1.100 8.5e-06
pancreatic cancer -1.200 6.0e-04

Protein-protein Interaction (4)

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)
19706617 analysis of a novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency
19339287 A family with 3-methylcrotonyl-CoA carboxylase deficiency with different clinical features is described.
17968484 Molecular analyses revealed novel mutations in one of the causative genes, MCCA or MCCB, in all five of the MCC deficiency patients
16023992 The amino-termini containing 39 (MCCalpha) or 20 amino acids (MCCbeta) were both necessary and sufficient for targeting. Structural requirements for mitochondrial import were defined by site-directed mutagenesis.
16010683 factors other than the genotype at the MCCA and MCCB loci have a major influence on the phenotype of MCC deficiency

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.
22264772 2012 A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
22189597 2012 Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients.
22150417 2012 Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.
21738487 2011 Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
21292315 2011 Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
21269460 2011 Initial characterization of the human central proteome.
21071250 2011 Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19706617 2009 Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency.
19339287 2009 3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17968484 2007 Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
17360195 2007 Expression, purification, characterization of human 3-methylcrotonyl-CoA carboxylase (MCCC).
16023992 2005 Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase.
16010683 2005 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11406611 2001 Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.
11401427 2001 Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression.
11181649 2001 The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
11170888 2001 The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.
1517917 1992 Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency.