PCCA (propionyl-CoA carboxylase subunit alpha)

2007-04-01  

Identity

HGNC
LOCATION
13q32.3
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 5095
MIM: 232000
HGNC: 8653
Ensembl: ENSG00000175198

Variants:

dbSNP: 5095
ClinVar: 5095
TCGA: ENSG00000175198
COSMIC: PCCA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175198ENST00000376279P05165
ENSG00000175198ENST00000376285P05165
ENSG00000175198ENST00000376286P05165
ENSG00000175198ENST00000413170H0Y798
ENSG00000175198ENST00000424527Q5JTW6
ENSG00000175198ENST00000428969Q5JVH2
ENSG00000175198ENST00000443601H0Y5U0
ENSG00000175198ENST00000458283H0Y4B9
ENSG00000175198ENST00000636366A0A1B0GWI4
ENSG00000175198ENST00000636420A0A1B0GUX9
ENSG00000175198ENST00000636475A0A1B0GWA1
ENSG00000175198ENST00000637358A0A1B0GTR1
ENSG00000175198ENST00000637657A0A1B0GU58
ENSG00000175198ENST00000647303A0A2R8Y725

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
Glyoxylate and dicarboxylate metabolismKEGGko00630
Propanoate metabolismKEGGko00640
Valine, leucine and isoleucine degradationKEGGhsa00280
Glyoxylate and dicarboxylate metabolismKEGGhsa00630
Propanoate metabolismKEGGhsa00640
Metabolic pathwaysKEGGhsa01100
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Propanoyl-CoA metabolism, propanoyl-CoA => succinyl-CoAKEGGhsa_M00741
Propanoyl-CoA metabolism, propanoyl-CoA => succinyl-CoAKEGGM00741
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Defects in vitamin and cofactor metabolismREACTOMER-HSA-3296482
Defects in biotin (Btn) metabolismREACTOMER-HSA-3323169
Defective HLCS causes multiple carboxylase deficiencyREACTOMER-HSA-3371599
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Mitochondrial Fatty Acid Beta-OxidationREACTOMER-HSA-77289
Propionyl-CoA catabolismREACTOMER-HSA-71032
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Biotin transport and metabolismREACTOMER-HSA-196780

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
192960782009Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes.42
207250442010Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase.33
179660922007Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
125598492003Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.14
158906572005Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.13
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
170513152006New splicing mutations in propionic acidemia.8

Citation

Dessen P

PCCA (propionyl-CoA carboxylase subunit alpha)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46978/pcca