PCCA (propionyl-CoA carboxylase subunit alpha)

2007-04-01 Affiliation

Identity

HGNC

PCCA

LOCATION

13q32.3

LOCUSID

5095

ALIAS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000175198	ENST00000376279	P05165
ENSG00000175198	ENST00000376285	P05165
ENSG00000175198	ENST00000376286	P05165
ENSG00000175198	ENST00000413170	H0Y798
ENSG00000175198	ENST00000424527	Q5JTW6
ENSG00000175198	ENST00000428969	Q5JVH2
ENSG00000175198	ENST00000443601	H0Y5U0
ENSG00000175198	ENST00000458283	H0Y4B9
ENSG00000175198	ENST00000636366	A0A1B0GWI4
ENSG00000175198	ENST00000636420	A0A1B0GUX9
ENSG00000175198	ENST00000636475	A0A1B0GWA1
ENSG00000175198	ENST00000637358	A0A1B0GTR1
ENSG00000175198	ENST00000637657	A0A1B0GU58
ENSG00000175198	ENST00000647303	A0A2R8Y725

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Valine, leucine and isoleucine degradation	KEGG	ko00280
Glyoxylate and dicarboxylate metabolism	KEGG	ko00630
Propanoate metabolism	KEGG	ko00640
Valine, leucine and isoleucine degradation	KEGG	hsa00280
Glyoxylate and dicarboxylate metabolism	KEGG	hsa00630
Propanoate metabolism	KEGG	hsa00640
Metabolic pathways	KEGG	hsa01100
Carbon metabolism	KEGG	hsa01200
Carbon metabolism	KEGG	ko01200
Propanoyl-CoA metabolism, propanoyl-CoA => succinyl-CoA	KEGG	hsa_M00741
Propanoyl-CoA metabolism, propanoyl-CoA => succinyl-CoA	KEGG	M00741
Disease	REACTOME	R-HSA-1643685
Diseases of metabolism	REACTOME	R-HSA-5668914
Defects in vitamin and cofactor metabolism	REACTOME	R-HSA-3296482
Defects in biotin (Btn) metabolism	REACTOME	R-HSA-3323169
Defective HLCS causes multiple carboxylase deficiency	REACTOME	R-HSA-3371599
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Mitochondrial Fatty Acid Beta-Oxidation	REACTOME	R-HSA-77289
Propionyl-CoA catabolism	REACTOME	R-HSA-71032
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
Metabolism of water-soluble vitamins and cofactors	REACTOME	R-HSA-196849
Biotin transport and metabolism	REACTOME	R-HSA-196780

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38727222	2024	The mitochondrial carboxylase PCCA interacts with Listeria monocytogenes phospholipase PlcB to modulate bacterial survival.	0
38727222	2024	The mitochondrial carboxylase PCCA interacts with Listeria monocytogenes phospholipase PlcB to modulate bacterial survival.	0
33741272	2021	A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.	8
33881965	2021	Differentially expressed genes PCCA, ECHS1, and HADH are potential prognostic biomarkers for gastric cancer.	9
33923806	2021	Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing.	2
33741272	2021	A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.	8
33881965	2021	Differentially expressed genes PCCA, ECHS1, and HADH are potential prognostic biomarkers for gastric cancer.	9
33923806	2021	Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing.	2
30274917	2018	Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.	13
30274917	2018	Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.	13
27227689	2016	Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.	9
27468871	2016	Frameshift mutations of OGDH, PPAT and PCCA genes in gastric and colorectal cancers.	11
27227689	2016	Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.	9
27468871	2016	Frameshift mutations of OGDH, PPAT and PCCA genes in gastric and colorectal cancers.	11
25636094	2015	[Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].	4

Citation

Dessen P

PCCA (propionyl-CoA carboxylase subunit alpha)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

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