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 th... See more...

Aliases for PCCA Gene

Aliases for PCCA Gene

  • Propionyl-CoA Carboxylase Subunit Alpha 2 3 5
  • Propionyl-CoA Carboxylase Alpha Chain, Mitochondrial 3 4
  • Propionyl Coenzyme A Carboxylase, Alpha Polypeptide 2 3
  • EC 6.4.1.3 4 51
  • Propanoyl-CoA:Carbon Dioxide Ligase Alpha Subunit 3
  • Propanoyl-CoA:Carbon Dioxide Ligase Subunit Alpha 4
  • Propionyl CoA Carboxylase, Alpha Polypeptide 3
  • Propionyl-CoA Carboxylase Alpha Subunit 3
  • PccA Complementation Group 3
  • PCCase Alpha Subunit 3
  • PCCase Subunit Alpha 4
  • EC 6.4.1 51
  • PCCA 5

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 Subunit Alpha) is a Protein Coding gene. Diseases associated with PCCA include Propionic Acidemia and Multiple Carboxylase Deficiency. Among its related pathways are superpathway of methionine degradation and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include enzyme binding and biotin carboxylase activity. An important paralog of this gene is MCCC1.

UniProtKB/Swiss-Prot Summary for PCCA Gene

  • This is one of the 2 subunits of the biotin-dependent propionyl-CoA carboxylase (PCC), a mitochondrial enzyme involved in the catabolism of odd chain fatty acids, branched-chain amino acids isoleucine, threonine, methionine, and valine and other metabolites (PubMed:8434582, PubMed:6765947). Propionyl-CoA carboxylase catalyzes the carboxylation of propionyl-CoA/propanoyl-CoA to D-methylmalonyl-CoA/(S)-methylmalonyl-CoA (PubMed:8434582, PubMed:6765947, PubMed:10101253). Within the holoenzyme, the alpha subunit catalyzes the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain, while the beta subunit then transfers the carboxyl group from carboxylated biotin to propionyl-CoA (By similarity). Propionyl-CoA carboxylase also significantly acts on butyryl-CoA/butanoyl-CoA, which is converted to ethylmalonyl-CoA/(2S)-ethylmalonyl-CoA at a much lower rate (PubMed:6765947). Other alternative minor substrates include (2E)-butenoyl-CoA/crotonoyl-CoA (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCCA Gene

Genomics for PCCA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PCCA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J100088 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.5 486 3.4 SP1 HNRNPL GATAD2A PRDM10 ZNF629 REST TFE3 SOX13 KDM1A BACH1 PCCA PCCA-DT TM9SF2 ASNSP3 piR-50332 GGACT
GH13J100087 Promoter 0.3 Ensembl 600.7 -1.5 -1514 0.2 PCCA PCCA-DT lnc-PCCA-2 ZIC2
GH13J100129 Enhancer 1 Ensembl ENCODE 6.9 +41.8 41786 5.2 PRDM10 ZNF629 ZNF7 JUND PRDM1 POLR2A SP1 ZNF501 ZNF600 CEBPA PCCA RPS26P47 piR-50332 RPL15P18 GGACT
GH13J100098 Enhancer 1 Ensembl ENCODE 5.8 +11.5 11474 4.2 ATF7 PRDM10 REST ZNF629 TFE3 IKZF1 JUND PRDM1 PATZ1 SP1 ENSG00000224356 PCCA ASNSP3 piR-50332 GGACT
GH13J100049 Enhancer 0.6 Ensembl ENCODE 4.7 -38.1 -38111 2.2 PRDM10 ZFHX2 ZNF18 GFI1B ZNF547 PKNOX1 ASNSP3 PCCA piR-35674-130 ZIC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCCA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCCA

Top Transcription factor binding sites by QIAGEN in the PCCA gene promoter:
  • En-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • NCX

Genomic Locations for PCCA Gene

Genomic Locations for PCCA Gene
chr13:100,089,015-100,530,437
(GRCh38/hg38)
Size:
441,423 bases
Orientation:
Plus strand
chr13:100,741,269-101,182,691
(GRCh37/hg19)
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=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Cofactor:
    Name=biotin; Xref=ChEBI:CHEBI:57586;
    Quaternary structure:
    • The holoenzyme is a dodecamer composed of 6 PCCA/alpha subunits and 6 PCCB/beta subunits (PubMed:6765947, PubMed:20725044). Interacts (via the biotin carboxylation domain) with SIRT4 (PubMed:23438705). Interacts with SIRT3 and SIRT5 (PubMed:23438705).
    SequenceCaution:
    • Sequence=AAA60035.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH00140.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAK61392.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA32763.1; Type=Frameshift; 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

Selected DME Specific Peptides for PCCA Gene

P05165:
  • KILVANRGEI
  • AGTVEFL
  • DKHGNALWLNERECSIQRRNQKV
  • EAMKMQNS
  • EKFIDNPRHIE
  • QEAASSFGDDR

Post-translational modifications for PCCA Gene

  • Acetylated.
  • The biotin cofactor is covalently attached to the C-terminal biotinyl-binding domain and is required for the catalytic activity (PubMed:10329019). Biotinylation is catalyzed by HLCS (PubMed:7753853, PubMed:20443544).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PCCA Gene

Gene Families for PCCA Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PCCA Gene

Suggested Antigen Peptide Sequences for PCCA Gene

GenScript: Design optimal peptide antigens:
  • Propanoyl-CoA:carbon dioxide ligase subunit alpha (PCCA_HUMAN)
  • Propionyl Coenzyme A carboxylase, alpha polypeptide (Q5JTW3_HUMAN)
  • Propionyl Coenzyme A carboxylase, alpha polypeptide (Q5JTW4_HUMAN)
  • Propionyl Coenzyme A carboxylase, alpha polypeptide (Q5JTW5_HUMAN)
  • Propionyl Coenzyme A carboxylase, alpha polypeptide (Q5JTW6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P05165

UniProtKB/Swiss-Prot:

PCCA_HUMAN :
  • Consists of an N-terminal biotin carboxylation/carboxylase (BC) domain that catalyzes the transient carboxylation of the biotin covalently attached to the C-terminal biotinyl-binding/biotin carboxyl carrier (BCC) domain.
Domain:
  • Consists of an N-terminal biotin carboxylation/carboxylase (BC) domain that catalyzes the transient carboxylation of the biotin covalently attached to the C-terminal biotinyl-binding/biotin carboxyl carrier (BCC) domain.
genes like me logo Genes that share domains with PCCA: view

Function for PCCA Gene

Molecular function for PCCA Gene

UniProtKB/Swiss-Prot Function:
This is one of the 2 subunits of the biotin-dependent propionyl-CoA carboxylase (PCC), a mitochondrial enzyme involved in the catabolism of odd chain fatty acids, branched-chain amino acids isoleucine, threonine, methionine, and valine and other metabolites (PubMed:8434582, PubMed:6765947). Propionyl-CoA carboxylase catalyzes the carboxylation of propionyl-CoA/propanoyl-CoA to D-methylmalonyl-CoA/(S)-methylmalonyl-CoA (PubMed:8434582, PubMed:6765947, PubMed:10101253). Within the holoenzyme, the alpha subunit catalyzes the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain, while the beta subunit then transfers the carboxyl group from carboxylated biotin to propionyl-CoA (By similarity). Propionyl-CoA carboxylase also significantly acts on butyryl-CoA/butanoyl-CoA, which is converted to ethylmalonyl-CoA/(2S)-ethylmalonyl-CoA at a much lower rate (PubMed:6765947). Other alternative minor substrates include (2E)-butenoyl-CoA/crotonoyl-CoA (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + hydrogencarbonate + propanoyl-CoA = (S)-methylmalonyl-CoA + ADP + H(+) + phosphate; Xref=Rhea:RHEA:23720, ChEBI:CHEBI:15378, ChEBI:CHEBI:17544, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57327, ChEBI:CHEBI:57392, ChEBI:CHEBI:456216; EC=6.4.1.3; Evidence={ECO:0000269|PubMed:6765947, ECO:0000269|PubMed:8434582};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + butanoyl-CoA + hydrogencarbonate = (2S)-ethylmalonyl-CoA + ADP + H(+) + phosphate; Xref=Rhea:RHEA:59520, ChEBI:CHEBI:15378, ChEBI:CHEBI:17544, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57371, ChEBI:CHEBI:60909, ChEBI:CHEBI:456216; Evidence={ECO:0000250|UniProtKB:P0DTA4};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.08 mM for ATP {ECO:0000269|PubMed:6765947}; KM=3.0 mM for hydrogencarbonate {ECO:0000269|PubMed:6765947}; pH dependence: Optimum pH is 7.2-8.8 for the propionyl-CoA carboxylase activity measured for the holoenzyme. {ECO:0000269|PubMed:6765947};
GENATLAS Biochemistry:
propionyl-CoA carboxylase,alpha polypeptide,biotin-dependent,mitochondrial conversion of propionyl CoA to methylmalonyl CoA,branched chain valine,isoleucine catabolism,energy pathway

Enzyme Numbers (IUBMB) for PCCA Gene

Phenotypes From GWAS Catalog for PCCA Gene

Gene Ontology (GO) - Molecular Function for PCCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004658 propionyl-CoA carboxylase activity IMP 8434582
GO:0005515 protein binding IPI 20725044
GO:0005524 ATP binding IEA --
GO:0009374 biotin binding TAS 3460076
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:
  • Pcca Pcca<tm1Tmiy>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCCA

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCCA gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PCCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
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:0006629 lipid metabolic process IEA --
GO:0006768 biotin metabolic process TAS --
GO:0016042 lipid catabolic process IEA --
GO:0019626 short-chain fatty acid catabolic 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, Investigational Nutra Target, cofactor 62
Phosphoric acid Approved Pharma 0
Propanoyl-CoA Experimental Pharma 0
spermidine Experimental Pharma Pore Blocker, Antagonist 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
Carbonic acid
  • [co(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Carbonate
71-52-3, 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
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
S-Methylmalonyl-CoA
  • (S)-Methylmalonyl-CoA
  • (S)-Methylmalonyl-coenzyme A
73173-91-8
genes like me logo Genes that share compounds with PCCA: view

Transcripts for PCCA Gene

mRNA/cDNA for PCCA Gene

11 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCCA

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

No ASD Table

Relevant External Links for PCCA Gene

GeneLoc Exon Structure for
PCCA

Expression for PCCA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for PCCA Gene



Protein tissue co-expression partners for PCCA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCCA

SOURCE GeneReport for Unigene cluster for PCCA Gene:

Hs.80741

Evidence on tissue expression from TISSUES for PCCA Gene

  • Kidney(4.7)
  • Liver(4.7)
  • Nervous system(3.9)
  • Pancreas(2.7)
  • Heart(2.7)
  • Gall bladder(2.5)
  • Muscle(2.5)
  • Skin(2.4)
  • Blood(2.3)
  • Intestine(2.3)
  • Lymph node(2.2)
  • Adrenal gland(2.1)
  • Thyroid gland(2.1)
  • Stomach(2.1)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PCCA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PCCA: view

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
Chimpanzee
(Pan troglodytes)
Mammalia PCCA 30 31
  • 99.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PCCA 30 31
  • 92.4 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PCCA 30 31
  • 89.19 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PCCA 31
  • 87 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Pcca 30 17 31
  • 86.74 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pcca 30
  • 86.58 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PCCA 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PCCA 30 31
  • 81.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PCCA 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pcca 30
  • 76.57 (n)
Str.11243 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.25798 30
Zebrafish
(Danio rerio)
Actinopterygii pcca 30 31
  • 69.59 (n)
OneToOne
Dr.23782 30
Worm
(Caenorhabditis elegans)
Secernentea pcca-1 30 31
  • 59.29 (n)
OneToOne
F27D9.5 32
  • 58 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DUR1,2 31
  • 12 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4365 30
Species where no ortholog for PCCA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for PCCA: view image

Paralogs for PCCA Gene

Paralogs for PCCA Gene

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

  • PCCA_HUMAN
  • H0Y4B9_HUMAN
  • H0Y5U0_HUMAN
  • H0Y798_HUMAN
  • Q5JTW6_HUMAN
  • Q5JVH2_HUMAN
genes like me logo Genes that share paralogs with PCCA: view

Variants for PCCA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCCA Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
635308 Pathogenic: Propionicacidemia 100,257,611(+) C/CA FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
635309 Likely Pathogenic: Propionicacidemia 100,089,138(+) CG/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
638018 Pathogenic: Propionic acidemia 100,089,122(+) T/A INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
638019 Pathogenic: Propionic acidemia 100,089,163(+) G/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
638020 Pathogenic: Propionic acidemia 100,154,982(+) CA/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for PCCA Gene

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

Variant ID Type Subtype PubMed ID
dgv577e212 CNV loss 25503493
esv2490241 CNV deletion 19546169
esv2634464 CNV deletion 19546169
esv2668656 CNV deletion 23128226
esv2669958 CNV deletion 23128226
esv2671626 CNV deletion 23128226
esv2747877 CNV deletion 23290073
esv2747878 CNV deletion 23290073
esv2747879 CNV deletion 23290073
esv2747880 CNV deletion 23290073
esv3303042 CNV tandem duplication 20981092
esv3308710 CNV mobile element insertion 20981092
esv3364634 CNV insertion 20981092
esv3408110 CNV duplication 20981092
esv3582760 CNV gain 25503493
esv3633340 CNV loss 21293372
esv3633341 CNV loss 21293372
esv3633343 CNV loss 21293372
esv3633344 CNV loss 21293372
esv3633345 CNV loss 21293372
esv3633346 CNV loss 21293372
esv3892434 CNV loss 25118596
esv3892435 CNV loss 25118596
nsv1037414 CNV loss 25217958
nsv1037571 CNV loss 25217958
nsv1069769 CNV deletion 25765185
nsv1120424 CNV deletion 24896259
nsv1134345 CNV deletion 24896259
nsv473298 CNV novel sequence insertion 20440878
nsv474342 CNV novel sequence insertion 20440878
nsv507728 OTHER sequence alteration 20534489
nsv507729 OTHER sequence alteration 20534489
nsv509512 CNV insertion 20534489
nsv518301 CNV loss 19592680
nsv523329 CNV loss 19592680
nsv526668 CNV gain 19592680
nsv7247 OTHER inversion 18451855
nsv832697 CNV loss 17160897
nsv832698 CNV loss 17160897
nsv977272 CNV duplication 23825009
nsv977273 CNV duplication 23825009

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)

Additional Variant Information for PCCA Gene

Human Gene Mutation Database (HGMD)
PCCA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCCA

SNP Genotyping and Copy Number Assay Products

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

Disorders for PCCA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
propionic acidemia
  • propionyl-coa carboxylase deficiency
multiple carboxylase deficiency
  • mcd
methylmalonic acidemia
  • methylmalonic aciduria
bile duct cancer
  • bile duct tumor
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

Additional Disease Information for PCCA

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

Publications for PCCA Gene

  1. Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. (PMID: 15059621) Yang X … Ohura T (Molecular genetics and metabolism 2004) 3 4 23
  2. Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. (PMID: 12559849) Pérez B … Ugarte M (Molecular genetics and metabolism 2003) 3 4 23
  3. Functional characterization of PCCA mutations causing propionic acidemia. (PMID: 12385775) Clavero S … Desviat LR (Biochimica et biophysica acta 2002) 3 23 26
  4. Structure of the PCCA gene and distribution of mutations causing propionic acidemia. (PMID: 11592820) Campeau E … Gravel RA (Molecular genetics and metabolism 2001) 3 4 23
  5. Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein. (PMID: 10101253) Richard E … Ugarte M (Biochimica et biophysica acta 1999) 3 4 23

Products for PCCA Gene

Sources for PCCA Gene