Gene Gene information from NCBI Gene database.
Entrez ID 341
Gene name Apolipoprotein C1
Gene symbol APOC1
Synonyms (NCBI Gene)
APOC1BApo-CIApoC-Iapo-CIBapoC-IB
Chromosome 19
Chromosome location 19q13.32
Summary This gene encodes a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. The encoded protein plays a central role in high density lipoprotein (HDL) and ve
miRNA miRNA information provided by mirtarbase database.
2
miRTarBase ID miRNA Experiments Reference
MIRT018338 hsa-miR-335-5p Microarray 18185580
MIRT018338 hsa-miR-335-5p Microarray 34081622
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0004859 Function Phospholipase inhibitor activity IBA
GO:0004859 Function Phospholipase inhibitor activity IDA 2302419
GO:0005504 Function Fatty acid binding IBA
GO:0005504 Function Fatty acid binding IDA 17339654
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
107710 607 ENSG00000130208
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02654
Protein name Apolipoprotein C-I (Apo-CI) (ApoC-I) (Apolipoprotein C1) [Cleaved into: Truncated apolipoprotein C-I]
Protein function Inhibitor of lipoprotein binding to the low density lipoprotein (LDL) receptor, LDL receptor-related protein, and very low density lipoprotein (VLDL) receptor. Associates with high density lipoproteins (HDL) and the triacylglycerol-rich lipoprot
PDB 1ALE , 1ALF , 1IOJ , 1OPP , 6DVU , 6DXR , 6DZ6 , 6NF3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04691 ApoC-I 27 82 Apolipoprotein C-I (ApoC-1) Family
Tissue specificity TISSUE SPECIFICITY: Synthesized mainly in liver and to a minor degree in intestine. Also found in the lung and spleen. {ECO:0000269|PubMed:2835369}.
Sequence
Sequence length 83
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cholesterol metabolism   VLDL assembly
VLDL clearance
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
31
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 29107063, 30319691
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 15343346
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 31213910
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma BEFREE 15876873
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 40109215 Associate
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 9421476
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 19442637, 20298972, 26421299, 26621834, 27805002, 28641921, 29107063, 29432188, 29739406, 29795290, 31346172, 31760383, 31915189, 32539856, 32896012
View all (8 more)
Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease Alzheimer disease Pubtator 33372590 Stimulate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Early Onset Alzheimer disease CTD_human_DG 29107063, 30319691
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 11825674, 19442637, 20298972
★☆☆☆☆
Found in Text Mining only