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Aliases for PCCB Gene

Aliases for PCCB Gene

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

External Ids for PCCB Gene

Previous GeneCards Identifiers for PCCB Gene

  • GC03U990060
  • GC03P136720
  • GC03P137250
  • GC03P137290
  • GC03P137451
  • GC03P135969
  • GC03P133346

Summaries for PCCB Gene

Entrez Gene Summary for PCCB Gene

  • The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

GeneCards Summary for PCCB Gene

PCCB (Propionyl CoA Carboxylase, Beta Polypeptide) is a Protein Coding gene. Diseases associated with PCCB include pccb-related propionic acidemia and propionicacidemia. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include propionyl-CoA carboxylase activity. An important paralog of this gene is MCCC2.

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

Genomics for PCCB Gene

Regulatory Elements for PCCB Gene

Genomic Location for PCCB Gene

Start:
136,250,306 bp from pter
End:
136,337,896 bp from pter
Size:
87,591 bases
Orientation:
Plus strand

Genomic View for PCCB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PCCB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCCB Gene

Proteins for PCCB Gene

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

    Protein Symbol:
    P05166-PCCB_HUMAN
    Recommended name:
    Propionyl-CoA carboxylase beta chain, mitochondrial
    Protein Accession:
    P05166
    Secondary Accessions:
    • B7Z2Z4
    • Q16813
    • Q96CX0

    Protein attributes for PCCB Gene

    Size:
    539 amino acids
    Molecular mass:
    58216 Da
    Quaternary structure:
    • Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits

    Alternative splice isoforms for PCCB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCCB Gene

Proteomics data for PCCB Gene at MOPED

Post-translational modifications for PCCB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for PCCB Gene

Gene Families for PCCB Gene

Protein Domains for PCCB Gene

Graphical View of Domain Structure for InterPro Entry

P05166

UniProtKB/Swiss-Prot:

PCCB_HUMAN :
  • P05166
Domain:
  • Contains 1 carboxyltransferase domain.
Family:
  • Belongs to the AccD/PCCB family.
genes like me logo Genes that share domains with PCCB: view

Function for PCCB Gene

Molecular function for PCCB Gene

GENATLAS Biochemistry: propionyl-CoA carboxylase,beta 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 PCCB Gene

Gene Ontology (GO) - Molecular Function for PCCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003989 acetyl-CoA carboxylase activity --
GO:0004658 propionyl-CoA carboxylase activity IEA --
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity --
genes like me logo Genes that share ontologies with PCCB: view

Phenotypes for PCCB Gene

genes like me logo Genes that share phenotypes with PCCB: view

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for PCCB Gene

Localization for PCCB Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCCB Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCCB Gene COMPARTMENTS Subcellular localization image for PCCB gene
Compartment Confidence
mitochondrion 5
nucleus 1

Gene Ontology (GO) - Cellular Components for PCCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 8188292
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol TAS --
GO:0009317 acetyl-CoA carboxylase complex --
genes like me logo Genes that share ontologies with PCCB: view

Pathways for PCCB Gene

SuperPathways for PCCB Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Metabolism
3 Fatty acid, triacylglycerol, and ketone body metabolism
4 Valine, leucine and isoleucine degradation
5 Disease
genes like me logo Genes that share pathways with PCCB: view

UniProtKB/Swiss-Prot P05166-PCCB_HUMAN

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

Gene Ontology (GO) - Biological Process for PCCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006633 fatty acid biosynthetic process --
GO:0006635 fatty acid beta-oxidation TAS --
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006768 biotin metabolic process TAS --
genes like me logo Genes that share ontologies with PCCB: view

Compounds for PCCB Gene

(8) HMDB Compounds for PCCB Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Biotin
  • (+)-Biotin
58-85-5
L-Valine
  • (2S)-2-Amino-3-methylbutanoate
72-18-4
Methylmalonyl-CoA
  • (R)-methylmalonyl-CoA
104809-02-1

(3) Drugbank Compounds for PCCB Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Biotin
  • (+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid
58-85-5 target
L-Valine
  • (2S)-2-Amino-3-methylbutanoic acid
72-18-4 target
L-Valine
  • (2S)-2-Amino-3-methylbutanoic acid
72-18-4 enzyme substrate

(3) Novoseek inferred chemical compound relationships for PCCB Gene

Compound -log(P) Hits PubMed IDs
pcca 99.2 55
propionyl coa 90.6 4
biotin 40.5 3
genes like me logo Genes that share compounds with PCCB: view

Transcripts for PCCB Gene

Unigene Clusters for PCCB Gene

Propionyl CoA carboxylase, beta polypeptide:
Representative Sequences:

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - - - - - -
SP9: - - - - - - - - - - - - - -
SP10: - -
SP11: - - - - -
SP12: - - - -
SP13: - - - - -
SP14: - - - - - - - - - - - - - - - - - -
SP15: -
SP16: -

ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1: -
SP2:
SP3: -
SP4: -
SP5: -
SP6: - -
SP7: -
SP8: -
SP9: -
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for PCCB Gene

GeneLoc Exon Structure for
PCCB
ECgene alternative splicing isoforms for
PCCB

Expression for PCCB Gene

mRNA expression in normal human tissues for PCCB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (4.6) and Adrenal Gland (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PCCB Gene

SOURCE GeneReport for Unigene cluster for PCCB Gene Hs.63788

genes like me logo Genes that share expressions with PCCB: view

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

Orthologs for PCCB Gene

This gene was present in the common ancestor of animals.

Orthologs for PCCB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCCB 35
  • 99.58 (n)
  • 99.64 (a)
PCCB 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PCCB 35
  • 91.52 (n)
  • 96.58 (a)
PCCB 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCCB 35
  • 91.78 (n)
  • 95.64 (a)
PCCB 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pccb 35
  • 87.51 (n)
  • 92.76 (a)
Pccb 16
Pccb 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PCCB 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCCB 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pccb 35
  • 87.2 (n)
  • 92.39 (a)
chicken
(Gallus gallus)
Aves PCCB 35
  • 77.65 (n)
  • 87.3 (a)
PCCB 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCCB 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68650 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pccb 35
  • 75 (n)
  • 85.58 (a)
Str.11522 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9703 35
zebrafish
(Danio rerio)
Actinopterygii Dr.11518 35
pccb 35
  • 73.6 (n)
  • 86.73 (a)
pccb 36
  • 79 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea pccb-1 35
  • 67.32 (n)
  • 76.32 (a)
pccb-1 36
  • 73 (a)
OneToOne
F52E4.1a 37
  • 75 (a)
F52E4.1b 37
  • 75 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11978 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
ManyToMany
Species with no ortholog for PCCB:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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 PCCB Gene

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

Paralogs for PCCB Gene

Paralogs for PCCB Gene

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

Variants for PCCB Gene

Sequence variations from dbSNP and Humsavar for PCCB Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs480330 -- 136,310,145(+) gatca(C/T)ctgag intron-variant
rs483465 -- 136,329,135(+) ACTCA(A/G)CAGCT intron-variant
rs489398 -- 136,276,656(-) aggtg(A/G)accta intron-variant
rs515181 -- 136,276,086(-) agtac(A/T)tatct intron-variant
rs517847 -- 136,290,960(-) aatct(C/T)tgagc intron-variant

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

Variant ID Type Subtype PubMed ID
nsv508246 CNV Loss 20534489
esv2665912 CNV Deletion 23128226
nsv237910 CNV Loss 16902084
nsv4025 CNV Loss 18451855
esv2725956 CNV Deletion 23290073
esv1521994 CNV Deletion 17803354
nsv821587 CNV Deletion 20802225
esv22097 CNV Gain+Loss 19812545
dgv37n50 CNV Loss 21212237
esv2725957 CNV Deletion 23290073
esv9585 CNV Loss 19470904
esv2662772 CNV Deletion 23128226
esv1003652 CNV Gain 20482838
nsv514170 CNV Loss 21397061
nsv877519 CNV Loss 21882294

Relevant External Links for PCCB Gene

HapMap Linkage Disequilibrium report
PCCB
Human Gene Mutation Database (HGMD)
PCCB
Locus Specific Mutation Databases (LSDB)
PCCB

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

Disorders for PCCB Gene

(1) OMIM Diseases for PCCB Gene (232050)

UniProtKB/Swiss-Prot

PCCB_HUMAN
  • Propionic acidemia type II (PA-2) [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:10447268, ECO:0000269 PubMed:12189489, ECO:0000269 PubMed:12559849, ECO:0000269 PubMed:15059621, ECO:0000269 PubMed:2154743, ECO:0000269 PubMed:8411997, ECO:0000269 PubMed:9683601}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for PCCB Gene

(3) Novoseek inferred disease relationships for PCCB Gene

Disease -log(P) Hits PubMed IDs
propionic acidemia 98.4 28
enzyme deficiency 60.4 2
metabolic disorder 54.6 4

Genatlas disease for PCCB Gene

hyperglycinemia,ketotic,propionic acidemia B

Relevant External Links for PCCB

Genetic Association Database (GAD)
PCCB
Human Genome Epidemiology (HuGE) Navigator
PCCB
genes like me logo Genes that share disorders with PCCB: view

Publications for PCCB Gene

  1. Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit. (PMID: 8188292) Lamhonwah A.-M. … Gravel R.A. (Genomics 1994) 3 4 23
  2. Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia. (PMID: 8411997) Tahara T. … Fenton W.A. (J. Inherit. Metab. Dis. 1993) 3 4 23
  3. Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. (PMID: 9683601) Rodriguez-Pombo P. … Ugarte M. (Am. J. Hum. Genet. 1998) 3 4 23
  4. Identification of novel mutations in the PCCB gene in European propionic acidemia patients. (PMID: 10447268) Muro S. … Ugarte M. (Hum. Mutat. 1999) 3 4 23
  5. Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. (PMID: 10502773) Ugarte M. … Gravel R.A. (Hum. Mutat. 1999) 3 4 23

Products for PCCB Gene

Sources for PCCB Gene

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