PCCB (propionyl-CoA carboxylase subunit beta)

2014-11-01 Affiliation

Identity

HGNC

PCCB

LOCATION

3q22.3

LOCUSID

5096

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: 5096
MIM: 232050
HGNC: 8654
Ensembl: ENSG00000114054

Variants:

dbSNP: 5096
ClinVar: 5096
TCGA: ENSG00000114054
COSMIC: PCCB

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000114054	ENST00000251654	P05166
ENSG00000114054	ENST00000459873	C9JVW9
ENSG00000114054	ENST00000462542	H7C5C9
ENSG00000114054	ENST00000462637	E7EUY3
ENSG00000114054	ENST00000465423	C9JVY9
ENSG00000114054	ENST00000466072	C9JQS9
ENSG00000114054	ENST00000468777	E7EX59
ENSG00000114054	ENST00000469217	P05166
ENSG00000114054	ENST00000471595	E9PDR0
ENSG00000114054	ENST00000478469	E7ENC1
ENSG00000114054	ENST00000482086	E9PEC3
ENSG00000114054	ENST00000483687	E7ETT1
ENSG00000114054	ENST00000484181	F8WBI9
ENSG00000114054	ENST00000490504	E7ETT4
ENSG00000114054	ENST00000494742	C9JAW3

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
19936222	2009	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	151
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
20031576	2009	Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.	44
20725044	2010	Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase.	33
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
12559849	2003	Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.	14
27825584	2016	Autism in patients with propionic acidemia.	12
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
12757933	2003	Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.	8
17051315	2006	New splicing mutations in propionic acidemia.	8

Citation

Dessen P

PCCB (propionyl-CoA carboxylase subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71694/pccb