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Aliases for PCCA Gene

Aliases for PCCA Gene

  • Propionyl-CoA Carboxylase Alpha Subunit 2 3 5
  • EC 6.4.1.3 4 63
  • Propionyl Coenzyme A Carboxylase, Alpha Polypeptide 2
  • Propanoyl-CoA:Carbon Dioxide Ligase Subunit Alpha 4
  • PCCase Subunit Alpha 4
  • EC 6.4.1 63

External Ids for PCCA Gene

Previous GeneCards Identifiers for PCCA Gene

  • GC13P099101
  • GC13P095128
  • GC13P099577
  • GC13P098439
  • GC13P099539
  • GC13P100741
  • GC13P081336

Summaries for PCCA Gene

Entrez Gene Summary for PCCA Gene

  • The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

GeneCards Summary for PCCA Gene

PCCA (Propionyl-CoA Carboxylase Alpha Subunit) is a Protein Coding gene. Diseases associated with PCCA include Propionicacidemia and Pcca-Related Propionic Acidemia. Among its related pathways are Diseases of metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include enzyme binding and biotin carboxylase activity. An important paralog of this gene is MCCC1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCCA Gene

Genomics for PCCA Gene

Regulatory Elements for PCCA Gene

Enhancers for PCCA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PCCA on UCSC Golden Path with GeneCards custom track

Promoters for PCCA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PCCA on UCSC Golden Path with GeneCards custom track

Genomic Location for PCCA Gene

Chromosome:
13
Start:
100,089,015 bp from pter
End:
100,530,437 bp from pter
Size:
441,423 bases
Orientation:
Plus strand

Genomic View for PCCA Gene

Genes around PCCA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCCA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCCA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCCA Gene

Proteins for PCCA Gene

  • Protein details for PCCA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05165-PCCA_HUMAN
    Recommended name:
    Propionyl-CoA carboxylase alpha chain, mitochondrial
    Protein Accession:
    P05165
    Secondary Accessions:
    • B4DKY8
    • B4DPF9
    • C9JPQ8
    • Q15979
    • Q8WXQ7

    Protein attributes for PCCA Gene

    Size:
    728 amino acids
    Molecular mass:
    80059 Da
    Cofactor:
    Name=biotin; Xref=ChEBI:CHEBI:57586;
    Quaternary structure:
    • Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits.
    SequenceCaution:
    • Sequence=AAA60035.1; Type=Frameshift; Positions=374, 378, 380, 395; Evidence={ECO:0000305}; Sequence=AAH00140.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAK61392.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA32763.1; Type=Frameshift; Positions=23; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PCCA Gene

    Alternative splice isoforms for PCCA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCCA Gene

Proteomics data for PCCA Gene at MOPED

Selected DME Specific Peptides for PCCA Gene

Post-translational modifications for PCCA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PCCA Gene

Gene Families for PCCA Gene

Graphical View of Domain Structure for InterPro Entry

P05165

UniProtKB/Swiss-Prot:

PCCA_HUMAN :
  • Contains 1 ATP-grasp domain.
Domain:
  • Contains 1 ATP-grasp domain.
  • Contains 1 biotin carboxylation domain.
  • Contains 1 biotinyl-binding domain.
genes like me logo Genes that share domains with PCCA: view

Function for PCCA Gene

Molecular function for PCCA Gene

GENATLAS Biochemistry:
propionyl-CoA carboxylase,alpha polypeptide,biotin-dependent,mitochondrial conversion of propionyl CoA to methylmalonyl CoA,branched chain valine,isoleucine catabolism,energy pathway
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + propanoyl-CoA + HCO(3)(-) = ADP + phosphate + (S)-methylmalonyl-CoA.

Enzyme Numbers (IUBMB) for PCCA Gene

Gene Ontology (GO) - Molecular Function for PCCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004075 biotin carboxylase activity IEA --
GO:0009374 biotin binding TAS 3460076
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PCCA: view
genes like me logo Genes that share phenotypes with PCCA: view

Human Phenotype Ontology for PCCA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PCCA Gene

MGI Knock Outs for PCCA:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for PCCA Gene

Localization for PCCA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCCA Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCCA Gene COMPARTMENTS Subcellular localization image for PCCA gene
Compartment Confidence
cytosol 5
mitochondrion 5
nucleus 2

Gene Ontology (GO) - Cellular Components for PCCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PCCA: view

Pathways & Interactions for PCCA Gene

genes like me logo Genes that share pathways with PCCA: view

UniProtKB/Swiss-Prot P05165-PCCA_HUMAN

  • Pathway: Metabolic intermediate metabolism; propanoyl-CoA degradation; succinyl-CoA from propanoyl-CoA: step 1/3.

Gene Ontology (GO) - Biological Process for PCCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006768 biotin metabolic process TAS --
GO:0019836 hemolysis by symbiont of host erythrocytes IEA --
GO:0044255 cellular lipid metabolic process TAS --
genes like me logo Genes that share ontologies with PCCA: view

No data available for SIGNOR curated interactions for PCCA Gene

Drugs & Compounds for PCCA Gene

(6) Drugs for PCCA Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved Nutra Target 40
Adenosine triphosphate Approved Nutra 0
Propionyl-CoA Experimental Pharma 0
spermidine Experimental Pharma Antagonist, Pore Blocker 0

(9) Additional Compounds for PCCA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Carbonic acid
  • Acid of air
  • Aerial acid
  • Bisodium carbonate
  • Calcined
  • Carbonic acid sodium salt
463-79-6
Methylmalonyl-CoA
  • (R)-methylmalonyl-CoA
  • (R)-methylmalonyl-Coenzyme A
  • (S)-2-Methyl-3-Oxopropanoyl-Coa
  • (S)-methyl-malonyl-CoA
  • (S)-methyl-malonyl-Coenzyme A
104809-02-1
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with PCCA: view

Transcripts for PCCA Gene

Unigene Clusters for PCCA Gene

Propionyl CoA carboxylase, alpha polypeptide:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PCCA Gene

No ASD Table

Relevant External Links for PCCA Gene

GeneLoc Exon Structure for
PCCA
ECgene alternative splicing isoforms for
PCCA

Expression for PCCA Gene

mRNA expression in normal human tissues for PCCA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCCA Gene

This gene is overexpressed in Liver (x4.4).

Protein differential expression in normal tissues from HIPED for PCCA Gene

This gene is overexpressed in Kidney (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PCCA Gene



SOURCE GeneReport for Unigene cluster for PCCA Gene Hs.80741

genes like me logo Genes that share expression patterns with PCCA: view

Protein tissue co-expression partners for PCCA Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PCCA Gene

Orthologs for PCCA Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PCCA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PCCA 35
  • 89.19 (n)
  • 89.15 (a)
PCCA 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCCA 35
  • 92.4 (n)
  • 91.21 (a)
PCCA 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcca 35
  • 86.74 (n)
  • 89.64 (a)
Pcca 16
Pcca 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PCCA 35
  • 99.5 (n)
  • 99.59 (a)
PCCA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcca 35
  • 86.58 (n)
  • 88.93 (a)
oppossum
(Monodelphis domestica)
Mammalia PCCA 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCCA 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCCA 35
  • 81.93 (n)
  • 84.01 (a)
PCCA 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCCA 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcca 35
  • 76.57 (n)
  • 79.14 (a)
Str.11243 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.25798 35
zebrafish
(Danio rerio)
Actinopterygii Dr.23782 35
pcca 35
  • 69.59 (n)
  • 77.01 (a)
pcca 36
  • 74 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F27D9.5 37
  • 58 (a)
pcca-1 35
  • 59.29 (n)
  • 60.62 (a)
pcca-1 36
  • 55 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DUR1,2 36
  • 12 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4365 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToOne
Species with no ortholog for PCCA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PCCA Gene

ENSEMBL:
Gene Tree for PCCA (if available)
TreeFam:
Gene Tree for PCCA (if available)

Paralogs for PCCA Gene

Paralogs for PCCA Gene

(4) SIMAP similar genes for PCCA Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PCCA: view

Variants for PCCA Gene

Sequence variations from dbSNP and Humsavar for PCCA Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
VAR_009087 Propionic acidemia type I (PA-1)
VAR_009088 Propionic acidemia type I (PA-1)
VAR_009089 Propionic acidemia type I (PA-1)
VAR_009090 Propionic acidemia type I (PA-1)
VAR_009091 Propionic acidemia type I (PA-1)

Structural Variations from Database of Genomic Variants (DGV) for PCCA Gene

Variant ID Type Subtype PubMed ID
nsv832697 CNV Loss 17160897
nsv509512 CNV Insertion 20534489
nsv832698 CNV Loss 17160897
esv2747877 CNV Deletion 23290073
nsv900956 CNV Loss 21882294
nsv526668 CNV Gain 19592680
esv272983 CNV Insertion 20981092
esv2671626 CNV Deletion 23128226
esv2668656 CNV Deletion 23128226
esv2634464 CNV Deletion 19546169
esv2747878 CNV Deletion 23290073
nsv7247 OTHER Inversion 18451855
dgv1786n71 CNV Loss 21882294
esv2490241 CNV Deletion 19546169
esv2747879 CNV Deletion 23290073
nsv523329 CNV Loss 19592680
nsv518301 CNV Loss 19592680
esv2669958 CNV Deletion 23128226
esv2747880 CNV Deletion 23290073
nsv507728 CNV Insertion 20534489
esv260016 OTHER Complex 20981092
nsv507729 CNV Insertion 20534489

Variation tolerance for PCCA Gene

Residual Variation Intolerance Score: 11.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.79; 58.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCCA Gene

Human Gene Mutation Database (HGMD)
PCCA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCCA Gene

Disorders for PCCA Gene

MalaCards: The human disease database

(6) MalaCards diseases for PCCA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
propionicacidemia
  • propionic acidemia
pcca-related propionic acidemia
  • pcca-related propionicacidemia
gastroesophageal junction adenocarcinoma
  • adenocarcinoma of cardioesophageal junction
methylmalonic acidemia
  • methylmalonic acidemia, cbla type
biotin deficiency
  • b7 deficiency
- elite association - COSMIC cancer census association via MalaCards
Search PCCA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PCCA_HUMAN
  • Propionic acidemia type I (PA-1) [MIM:606054]: Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. {ECO:0000269 PubMed:10101253, ECO:0000269 PubMed:10329019, ECO:0000269 PubMed:12559849, ECO:0000269 PubMed:15059621}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for PCCA Gene

hyperglycinemia,ketotic,propionic acidemia A

Relevant External Links for PCCA

Genetic Association Database (GAD)
PCCA
Human Genome Epidemiology (HuGE) Navigator
PCCA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCCA
genes like me logo Genes that share disorders with PCCA: view

Publications for PCCA Gene

  1. Functional characterization of PCCA mutations causing propionic acidemia. (PMID: 12385775) Clavero S. … Desviat L.R. (Biochim. Biophys. Acta 2002) 3 23 25 26
  2. Cloning of functional alpha propionyl CoA carboxylase and correction of enzyme deficiency in pccA fibroblasts. (PMID: 8434582) Stankovics J. … Ledley F.D. (Am. J. Hum. Genet. 1993) 3 4 23 67
  3. Biotin deficiency reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood. (PMID: 15623830) Vlasova T.I. … Mock D.M. (J. Nutr. 2005) 23 25 26
  4. Strong decrease in biotin content may correlate with metabolic alterations in colorectal adenocarcinoma. (PMID: 9311592) Cherbonnel-Lasserre C.L. … Dutrillaux B. (Int. J. Cancer 1997) 23 25 26
  5. Assignment of the human gene propionyl coenzyme A carboxylase, alpha-chain, (PCCA) to chromosome 13q32 by in situ hybridization. (PMID: 1427880) Kennerknecht I. … Hameister H. (Genomics 1992) 2 3 23

Products for PCCA Gene

Sources for PCCA Gene

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