Property Summary

NCBI Gene PubMed Count 22
Grant Count 19
Funding $10,401,646.5
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 0.000
osteosarcoma 1.929 0.000
ependymoma 1.200 0.000
astrocytoma 1.500 0.001
atypical teratoid / rhabdoid tumor 1.400 0.000
glioblastoma 1.100 0.001
medulloblastoma, large-cell 1.400 0.000
pancreatic ductal adenocarcinoma liver m... -1.464 0.004
non-small cell lung cancer 1.013 0.000
intraductal papillary-mucinous neoplasm ... 1.500 0.001
lung cancer 1.800 0.000
Breast cancer 4.000 0.026
interstitial cystitis -1.100 0.001
breast carcinoma 1.100 0.000
invasive ductal carcinoma 1.400 0.003

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.
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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.
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