Property Summary

NCBI Gene PubMed Count 30
PubMed Score 79.84
PubTator Score 45.52

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count P-value
lung adenocarcinoma 2714 8.46385890024463E-6
interstitial cystitis 2299 1.55918113409049E-5
osteosarcoma 7933 2.3105286218897E-4
primary pancreatic ductal adenocarcinoma 1271 4.87829491486644E-4
pancreatic cancer 2300 5.99228512636503E-4
Disease Target Count Z-score Confidence
Parkinson's disease 364 3.282 1.6
Disease Target Count Z-score Confidence
3-Methylcrotonyl-CoA carboxylase deficiency 11 6.709 3.4
Disease Target Count Z-score Confidence
Organic acidemia 3 4.672 2.3

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)

PDB

2EJM  

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
C. elegans OMA Inparanoid
Fruitfly EggNOG Inparanoid

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)
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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...