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MCCC1 (methylcrotonoyl-CoA carboxylase 1)

Identity

Alias_namesmethylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
Alias_symbol (synonym)MCCA
Other aliasMCC-B
HGNC (Hugo) MCCC1
LocusID (NCBI) 56922
Atlas_Id 68839
Location 3q27.1  [Link to chromosome band 3q27]
Location_base_pair Starts at 183015218 and ends at 183099587 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CAMSAP2 (1q32.1) / MCCC1 (3q27.1)MCCC1 (3q27.1) / ADAMTSL3 (15q25.2)MCCC1 (3q27.1) / MED10 (5p15.31)
MCCC1 (3q27.1) / PTPN14 (1q41)MED10 (5p15.31) / MCCC1 (3q27.1)MCCC1 MED10
MCCC1 ADAMTSL3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MCCC1   6936
Cards
Entrez_Gene (NCBI)MCCC1  56922  methylcrotonoyl-CoA carboxylase 1
AliasesMCC-B; MCCA
GeneCards (Weizmann)MCCC1
Ensembl hg19 (Hinxton)ENSG00000078070 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000078070 [Gene_View]  chr3:183015218-183099587 [Contig_View]  MCCC1 [Vega]
ICGC DataPortalENSG00000078070
TCGA cBioPortalMCCC1
AceView (NCBI)MCCC1
Genatlas (Paris)MCCC1
WikiGenes56922
SOURCE (Princeton)MCCC1
Genetics Home Reference (NIH)MCCC1
Genomic and cartography
GoldenPath hg38 (UCSC)MCCC1  -     chr3:183015218-183099587 -  3q27.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MCCC1  -     3q27.1   [Description]    (hg19-Feb_2009)
EnsemblMCCC1 - 3q27.1 [CytoView hg19]  MCCC1 - 3q27.1 [CytoView hg38]
Mapping of homologs : NCBIMCCC1 [Mapview hg19]  MCCC1 [Mapview hg38]
OMIM210200   609010   
Gene and transcription
Genbank (Entrez)AB029826 AB209737 AF297332 AF310339 AF310972
RefSeq transcript (Entrez)NM_001293273 NM_020166
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MCCC1
Cluster EST : UnigeneHs.47649 [ NCBI ]
CGAP (NCI)Hs.47649
Alternative Splicing GalleryENSG00000078070
Gene ExpressionMCCC1 [ NCBI-GEO ]   MCCC1 [ EBI - ARRAY_EXPRESS ]   MCCC1 [ SEEK ]   MCCC1 [ MEM ]
Gene Expression Viewer (FireBrowse)MCCC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56922
GTEX Portal (Tissue expression)MCCC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96RQ3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96RQ3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96RQ3
Splice isoforms : SwissVarQ96RQ3
Catalytic activity : Enzyme6.4.1.4 [ Enzyme-Expasy ]   6.4.1.46.4.1.4 [ IntEnz-EBI ]   6.4.1.4 [ BRENDA ]   6.4.1.4 [ KEGG ]   
PhosPhoSitePlusQ96RQ3
Domaine pattern : Prosite (Expaxy)ATP_GRASP (PS50975)    BC (PS50979)    BIOTIN (PS00188)    BIOTINYL_LIPOYL (PS50968)    CPSASE_2 (PS00867)   
Domains : Interpro (EBI)ATP-grasp    ATP_grasp_subdomain_1    ATP_grasp_subdomain_2    BC-like_N    Biotin_BS    Biotin_carboxylation_dom    Biotin_COase_C    Biotin_lipoyl    CbamoylP_synth_lsu-like_ATP-bd    PreATP-grasp_dom    Rudment_hybrid_motif    Single_hybrid_motif   
Domain families : Pfam (Sanger)Biotin_carb_C (PF02785)    Biotin_carb_N (PF00289)    Biotin_lipoyl (PF00364)    CPSase_L_D2 (PF02786)   
Domain families : Pfam (NCBI)pfam02785    pfam00289    pfam00364    pfam02786   
Domain families : Smart (EMBL)Biotin_carb_C (SM00878)  
Conserved Domain (NCBI)MCCC1
DMDM Disease mutations56922
Blocks (Seattle)MCCC1
PDB (SRS)2EJM   
PDB (PDBSum)2EJM   
PDB (IMB)2EJM   
PDB (RSDB)2EJM   
Structural Biology KnowledgeBase2EJM   
SCOP (Structural Classification of Proteins)2EJM   
CATH (Classification of proteins structures)2EJM   
SuperfamilyQ96RQ3
Human Protein AtlasENSG00000078070
Peptide AtlasQ96RQ3
HPRD01951
IPIIPI00024580   IPI00789136   IPI00792499   IPI00945529   IPI00944948   IPI00945900   IPI00985037   IPI00945106   IPI00945717   
Protein Interaction databases
DIP (DOE-UCLA)Q96RQ3
IntAct (EBI)Q96RQ3
FunCoupENSG00000078070
BioGRIDMCCC1
STRING (EMBL)MCCC1
ZODIACMCCC1
Ontologies - Pathways
QuickGOQ96RQ3
Ontology : AmiGO3-methylcrotonyl-CoA carboxylase complex, mitochondrial  3-methylcrotonyl-CoA carboxylase complex, mitochondrial  biotin carboxylase activity  methylcrotonoyl-CoA carboxylase activity  methylcrotonoyl-CoA carboxylase activity  methylcrotonoyl-CoA carboxylase activity  protein binding  ATP binding  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  mitochondrial matrix  mitochondrial matrix  cytosol  leucine catabolic process  leucine catabolic process  leucine catabolic process  biotin metabolic process  biotin metabolic process  branched-chain amino acid catabolic process  biotin binding  metal ion binding  protein heterooligomerization  methylcrotonoyl-CoA carboxylase complex  
Ontology : EGO-EBI3-methylcrotonyl-CoA carboxylase complex, mitochondrial  3-methylcrotonyl-CoA carboxylase complex, mitochondrial  biotin carboxylase activity  methylcrotonoyl-CoA carboxylase activity  methylcrotonoyl-CoA carboxylase activity  methylcrotonoyl-CoA carboxylase activity  protein binding  ATP binding  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  mitochondrial matrix  mitochondrial matrix  cytosol  leucine catabolic process  leucine catabolic process  leucine catabolic process  biotin metabolic process  biotin metabolic process  branched-chain amino acid catabolic process  biotin binding  metal ion binding  protein heterooligomerization  methylcrotonoyl-CoA carboxylase complex  
Pathways : KEGGValine, leucine and isoleucine degradation   
NDEx NetworkMCCC1
Atlas of Cancer Signalling NetworkMCCC1
Wikipedia pathwaysMCCC1
Orthology - Evolution
OrthoDB56922
GeneTree (enSembl)ENSG00000078070
Phylogenetic Trees/Animal Genes : TreeFamMCCC1
HOVERGENQ96RQ3
HOGENOMQ96RQ3
Homologs : HomoloGeneMCCC1
Homology/Alignments : Family Browser (UCSC)MCCC1
Gene fusions - Rearrangements
Fusion: TCGAMCCC1 MED10
Fusion: TCGAMCCC1 ADAMTSL3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMCCC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MCCC1
dbVarMCCC1
ClinVarMCCC1
1000_GenomesMCCC1 
Exome Variant ServerMCCC1
ExAC (Exome Aggregation Consortium)MCCC1 (select the gene name)
Genetic variants : HAPMAP56922
Genomic Variants (DGV)MCCC1 [DGVbeta]
DECIPHERMCCC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMCCC1 
Mutations
ICGC Data PortalMCCC1 
TCGA Data PortalMCCC1 
Broad Tumor PortalMCCC1
OASIS PortalMCCC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMCCC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMCCC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MCCC1
DgiDB (Drug Gene Interaction Database)MCCC1
DoCM (Curated mutations)MCCC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MCCC1 (select a term)
intoGenMCCC1
Cancer3DMCCC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM210200    609010   
Orphanet3297   
MedgenMCCC1
Genetic Testing Registry MCCC1
NextProtQ96RQ3 [Medical]
TSGene56922
GENETestsMCCC1
Target ValidationMCCC1
Huge Navigator MCCC1 [HugePedia]
snp3D : Map Gene to Disease56922
BioCentury BCIQMCCC1
ClinGenMCCC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56922
Chemical/Pharm GKB GenePA30680
Clinical trialMCCC1
Miscellaneous
canSAR (ICR)MCCC1 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMCCC1
EVEXMCCC1
GoPubMedMCCC1
iHOPMCCC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 31 15:25:39 CEST 2017

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