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PCCA (propionyl-CoA carboxylase alpha subunit)

Identity

Alias_namespropionyl Coenzyme A carboxylase
Other alias-
HGNC (Hugo) PCCA
LocusID (NCBI) 5095
Atlas_Id 46978
Location 13q32.3  [Link to chromosome band 13q32]
Location_base_pair Starts at 100089015 and ends at 100530437 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DZIP1 (13q32.1) / PCCA (13q32.3)GGACT (13q32.3) / PCCA (13q32.3)MALAT1 (11q13.1) / PCCA (13q32.3)
PCCA (13q32.3) / CLYBL (13q32.3)PCCA (13q32.3) / DIAPH3 (13q21.2)PCCA (13q32.3) / FSIP2 (2q32.1)
PCCA (13q32.3) / HS6ST3 (13q32.1)PCCA (13q32.3) / MBNL2 (13q32.1)PCCA (13q32.3) / PCCA (13q32.3)
PCCA (13q32.3) / PIBF1 (13q22.1)PCCA (13q32.3) / SERPINE1 (7q22.1)PCNP (3q12.3) / PCCA (13q32.3)
SNX16 (8q21.13) / PCCA (13q32.3)SORL1 (11q24.1) / PCCA (13q32.3)GGACT 13q32.3 PCCA
DZIP1 13q32.1 / PCCA 13q32.3PCCA 13q32.3 / CLYBL 13q32.3PCCA 13q32.3 / DIAPH3 13q21.2
PCCA 13q32.3 / FSIP2 2q32.1PCCA 13q32.3 / MBNL2 13q32.1SNX16 8q21.13 / PCCA 13q32.3

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)PCCA   8653
Cards
Entrez_Gene (NCBI)PCCA  5095  propionyl-CoA carboxylase alpha subunit
Aliases
GeneCards (Weizmann)PCCA
Ensembl hg19 (Hinxton)ENSG00000175198 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000175198 [Gene_View]  chr13:100089015-100530437 [Contig_View]  PCCA [Vega]
ICGC DataPortalENSG00000175198
TCGA cBioPortalPCCA
AceView (NCBI)PCCA
Genatlas (Paris)PCCA
WikiGenes5095
SOURCE (Princeton)PCCA
Genetics Home Reference (NIH)PCCA
Genomic and cartography
GoldenPath hg38 (UCSC)PCCA  -     chr13:100089015-100530437 +  13q32.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCCA  -     13q32.3   [Description]    (hg19-Feb_2009)
EnsemblPCCA - 13q32.3 [CytoView hg19]  PCCA - 13q32.3 [CytoView hg38]
Mapping of homologs : NCBIPCCA [Mapview hg19]  PCCA [Mapview hg38]
OMIM232000   606054   
Gene and transcription
Genbank (Entrez)AF339804 AF385926 AK027256 AK055982 AK225288
RefSeq transcript (Entrez)NM_000282 NM_001127692 NM_001178004
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PCCA
Cluster EST : UnigeneHs.733632 [ NCBI ]
CGAP (NCI)Hs.733632
Alternative Splicing GalleryENSG00000175198
Gene ExpressionPCCA [ NCBI-GEO ]   PCCA [ EBI - ARRAY_EXPRESS ]   PCCA [ SEEK ]   PCCA [ MEM ]
Gene Expression Viewer (FireBrowse)PCCA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5095
GTEX Portal (Tissue expression)PCCA
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05165   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP05165  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP05165
Splice isoforms : SwissVarP05165
Catalytic activity : Enzyme6.4.1.3 [ Enzyme-Expasy ]   6.4.1.36.4.1.3 [ IntEnz-EBI ]   6.4.1.3 [ BRENDA ]   6.4.1.3 [ KEGG ]   
PhosPhoSitePlusP05165
Domaine pattern : Prosite (Expaxy)ATP_GRASP (PS50975)    BC (PS50979)    BIOTIN (PS00188)    BIOTINYL_LIPOYL (PS50968)    CPSASE_1 (PS00866)    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)PCCA
DMDM Disease mutations5095
Blocks (Seattle)PCCA
PDB (SRS)2CQY    2JKU   
PDB (PDBSum)2CQY    2JKU   
PDB (IMB)2CQY    2JKU   
PDB (RSDB)2CQY    2JKU   
Structural Biology KnowledgeBase2CQY    2JKU   
SCOP (Structural Classification of Proteins)2CQY    2JKU   
CATH (Classification of proteins structures)2CQY    2JKU   
SuperfamilyP05165
Human Protein AtlasENSG00000175198
Peptide AtlasP05165
HPRD01981
IPIIPI00744115   IPI00895869   IPI00553241   IPI00383473   IPI00552419   IPI00553145   IPI00552081   IPI00647500   
Protein Interaction databases
DIP (DOE-UCLA)P05165
IntAct (EBI)P05165
FunCoupENSG00000175198
BioGRIDPCCA
STRING (EMBL)PCCA
ZODIACPCCA
Ontologies - Pathways
QuickGOP05165
Ontology : AmiGObiotin carboxylase activity  propionyl-CoA carboxylase activity  ATP binding  mitochondrial matrix  cytosol  biotin metabolic process  biotin binding  short-chain fatty acid catabolic process  enzyme binding  metal ion binding  
Ontology : EGO-EBIbiotin carboxylase activity  propionyl-CoA carboxylase activity  ATP binding  mitochondrial matrix  cytosol  biotin metabolic process  biotin binding  short-chain fatty acid catabolic process  enzyme binding  metal ion binding  
Pathways : KEGGValine, leucine and isoleucine degradation    Glyoxylate and dicarboxylate metabolism    Propanoate metabolism   
NDEx NetworkPCCA
Atlas of Cancer Signalling NetworkPCCA
Wikipedia pathwaysPCCA
Orthology - Evolution
OrthoDB5095
GeneTree (enSembl)ENSG00000175198
Phylogenetic Trees/Animal Genes : TreeFamPCCA
HOVERGENP05165
HOGENOMP05165
Homologs : HomoloGenePCCA
Homology/Alignments : Family Browser (UCSC)PCCA
Gene fusions - Rearrangements
Fusion : MitelmanDZIP1/PCCA [13q32.1/13q32.3]  [t(13;13)(q32;q32)]  
Fusion : MitelmanGGACT/PCCA [13q32.3/13q32.3]  [t(13;13)(q32;q32)]  
Fusion : MitelmanPCCA/CLYBL [13q32.3/13q32.3]  [t(13;13)(q32;q32)]  
Fusion : MitelmanPCCA/DIAPH3 [13q32.3/13q21.2]  [t(13;13)(q21;q32)]  
Fusion : MitelmanPCCA/FSIP2 [13q32.3/2q32.1]  [t(2;13)(q32;q32)]  
Fusion : MitelmanPCCA/MBNL2 [13q32.3/13q32.1]  [t(13;13)(q32;q32)]  
Fusion : MitelmanSNX16/PCCA [8q21.13/13q32.3]  [t(8;13)(q21;q32)]  
Fusion: TCGAGGACT 13q32.3 PCCA 13q32.3 BLCA
Fusion: TCGADZIP1 13q32.1 PCCA 13q32.3 BRCA
Fusion: TCGAPCCA 13q32.3 CLYBL 13q32.3 BLCA BRCA
Fusion: TCGAPCCA 13q32.3 DIAPH3 13q21.2 KIRC
Fusion: TCGAPCCA 13q32.3 FSIP2 2q32.1 HNSC
Fusion: TCGAPCCA 13q32.3 MBNL2 13q32.1 OV
Fusion: TCGASNX16 8q21.13 PCCA 13q32.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCCA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCCA
dbVarPCCA
ClinVarPCCA
1000_GenomesPCCA 
Exome Variant ServerPCCA
ExAC (Exome Aggregation Consortium)PCCA (select the gene name)
Genetic variants : HAPMAP5095
Genomic Variants (DGV)PCCA [DGVbeta]
DECIPHERPCCA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPCCA 
Mutations
ICGC Data PortalPCCA 
TCGA Data PortalPCCA 
Broad Tumor PortalPCCA
OASIS PortalPCCA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCCA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCCA
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)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PCCA
DgiDB (Drug Gene Interaction Database)PCCA
DoCM (Curated mutations)PCCA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCCA (select a term)
intoGenPCCA
Cancer3DPCCA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM232000    606054   
Orphanet3557   
MedgenPCCA
Genetic Testing Registry PCCA
NextProtP05165 [Medical]
TSGene5095
GENETestsPCCA
Target ValidationPCCA
Huge Navigator PCCA [HugePedia]
snp3D : Map Gene to Disease5095
BioCentury BCIQPCCA
ClinGenPCCA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5095
Chemical/Pharm GKB GenePA32992
Clinical trialPCCA
Miscellaneous
canSAR (ICR)PCCA (select the gene name)
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCCA
EVEXPCCA
GoPubMedPCCA
iHOPPCCA
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 Jun 7 12:48:42 CEST 2017

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