Property Summary

NCBI Gene PubMed Count 22
PubMed Score 15.54
PubTator Score 65.06

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
psoriasis -1.300 2.8e-04
osteosarcoma 1.929 8.9e-06
ependymoma 1.200 8.7e-08
astrocytoma 1.500 9.2e-04
atypical teratoid / rhabdoid tumor 1.400 1.3e-05
glioblastoma 1.100 5.7e-04
medulloblastoma, large-cell 1.400 4.0e-04
pancreatic ductal adenocarcinoma liver m... -1.464 3.8e-03
non-small cell lung cancer 1.013 1.1e-14
intraductal papillary-mucinous neoplasm ... 1.500 1.3e-03
lung cancer 1.800 4.8e-04
Breast cancer 4.000 2.6e-02
interstitial cystitis -1.100 5.4e-04
breast carcinoma 1.100 2.2e-12
invasive ductal carcinoma 1.400 2.6e-03

Protein-protein Interaction (3)

Gene RIF (11)

PMID Text
25382614 Novel mutation in MCCC2 gene was identified in Chinese population.
22264772 Mutation in 3-methylcrotonyl CoA carboxylase 2 gene is associated with 3-methylcrotonyl-CoA carboxylase deficiency.
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)
20198315 Observational study of gene-disease association. (HuGE Navigator)
19851296 Observational study of gene-disease association. (HuGE Navigator)
17968484 Molecular analyses revealed novel mutations in one of the causative genes, MCCA or MCCB, in all five of the MCC deficiency patients
17876819 The Kd value of soraphen A for the BC domains of human ACC1 and ACC2 is 1 nM. This high binding affinity is mainly due to the extensive interactions between soraphen A and the human biotin carboxylase domain
16023992 The amino-termini containing 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

MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEK      1 - 70
ARALHISRGKLLPRERIDNLIDPGSPFLELSQFAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATV     71 - 140
KGGAYYPVTVKKQLRAQEIAMQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGRTFYNQAIMSSKNIAQIA    141 - 210
VVMGSCTAGGAYVPAMADENIIVRKQGTIFLAGPPLVKAATGEEVSAEDLGGADLHCRKSGVSDHWALDD    211 - 280
HHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGIVGANLKRSFDVREVIARIVDGSRFTEFKAF    281 - 350
YGDTLVTGFARIFGYPVGIVGNNGVLFSESAKKGTHFVQLCCQRNIPLLFLQNITGFMVGREYEAEGIAK    351 - 420
DGAKMVAAVACAQVPKITLIIGGSYGAGNYGMCGRAYSPRFLYIWPNARISVMGGEQAANVLATITKDQR    421 - 490
AREGKQFSSADEAALKEPIIKKFEEEGNPYYSSARVWDDGIIDPADTRLVLGLSFSAALNAPIEKTDFGI    491 - 560
FRM                                                                       561 - 563
//

Text Mined References (27)

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.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
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.
22150417 2012 Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.
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.
20198315 2010 Association of genetic variants with hemorrhagic stroke in Japanese individuals.
19851296 2010 Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
17968484 2007 Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
17876819 2008 Crystal structure of the biotin carboxylase domain of human acetyl-CoA carboxylase 2.
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).
15372022 2004 The DNA sequence and comparative analysis of human chromosome 5.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
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.