APOC1 (apolipoprotein C1)

2008-07-01  

Identity

HGNC
LOCATION
19q13.32
LOCUSID
ALIAS
Apo-CI,ApoC-I,apo-CIB,apoC-IB
FUSION GENES

Other Information

Locus ID:

NCBI: 341
MIM: 107710
HGNC: 607
Ensembl: ENSG00000130208

Variants:

dbSNP: 341
ClinVar: 341
TCGA: ENSG00000130208
COSMIC: APOC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130208ENST00000586638K7ELM9
ENSG00000130208ENST00000588750P02654
ENSG00000130208ENST00000588750A0A024R0T8
ENSG00000130208ENST00000588802P02654
ENSG00000130208ENST00000588802A0A024R0T8
ENSG00000130208ENST00000589078K7EKP1
ENSG00000130208ENST00000589781K7EPR9
ENSG00000130208ENST00000590334K7EJI9
ENSG00000130208ENST00000592176K7ELU7
ENSG00000130208ENST00000592535K7ERI9
ENSG00000130208ENST00000592885K7EPF9

Expression (GTEx)

0
500
1000
1500
2000
2500
3000

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
VLDL interactionsREACTOMER-HSA-8855121
VLDL biosynthesisREACTOMER-HSA-8866423

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164742099MTTPGenePathwayassociated

References

Pubmed IDYearTitleCitations
207143482010Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.246
179984372008Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.189
195674382009Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.180
208646722010Genetic variants influencing circulating lipid levels and risk of coronary artery disease.180
189767282008Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE.174
199362222009Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.151
157675782005Evidence for cross-genotype neutralization of hepatitis C virus pseudo-particles and enhancement of infectivity by apolipoprotein C1.100
203395362010Genome-wide association of lipid-lowering response to statins in combined study populations.99
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
120321512002Regulated expression of the apolipoprotein E/C-I/C-IV/C-II gene cluster in murine and human macrophages. A critical role for nuclear liver X receptors alpha and beta.58

Citation

Dessen P

APOC1 (apolipoprotein C1)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50188/apoc1