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Aliases for APOC1 Gene

Aliases for APOC1 Gene

  • Apolipoprotein C1 2 3 4 5
  • Apolipoprotein C-I 2 3
  • Apo-CI 3 4
  • ApoC-I 3 4
  • Apo-CIB 3
  • ApoC-IB 3

External Ids for APOC1 Gene

Previous GeneCards Identifiers for APOC1 Gene

  • GC19P046062
  • GC19P045808
  • GC19P050093
  • GC19P050109
  • GC19P045417
  • GC19P041848

Summaries for APOC1 Gene

Entrez Gene Summary for APOC1 Gene

  • 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 very low density lipoprotein (VLDL) metabolism. This protein has also been shown to inhibit cholesteryl ester transfer protein in plasma. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Sep 2016]

GeneCards Summary for APOC1 Gene

APOC1 (Apolipoprotein C1) is a Protein Coding gene. Diseases associated with APOC1 include Adermatoglyphia and Alzheimer Disease. Among its related pathways are Metabolism and Lipoprotein metabolism. Gene Ontology (GO) annotations related to this gene include phosphatidylcholine binding and phospholipase inhibitor activity.

UniProtKB/Swiss-Prot for APOC1 Gene

  • 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 lipoproteins in the plasma and makes up about 10% of the protein of the VLDL and 2% of that of HDL. Appears to interfere directly with fatty acid uptake and is also the major plasma inhibitor of cholesteryl ester transfer protein (CETP). Binds free fatty acids and reduces their intracellular esterification. Modulates the interaction of APOE with beta-migrating VLDL and inhibits binding of beta-VLDL to the LDL receptor-related protein.

Gene Wiki entry for APOC1 Gene

Additional gene information for APOC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APOC1 Gene

Genomics for APOC1 Gene

GeneHancer (GH) Regulatory Elements for APOC1 Gene

Promoters and enhancers for APOC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I044909 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 550.8 -1.6 -1558 6.3 HDGF MLX ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 ZNF143 APOC1 GC19P044915 GC19M044904 APOE RELB NECTIN2 BCAM ENSG00000280087
GH19I044050 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 5.8 -862.2 -862188 3.4 PKNOX1 FOXA2 SMAD1 ZFP64 ARID4B SIN3A ZNF2 YY1 CBX5 ZNF213 ZNF223 ZNF45 ZNF112 ZNF180 MRPS15P2 ZNF283 ZNF225 ZNF155 ZNF284 ZNF224
GH19I044934 Enhancer 0.9 ENCODE 7.5 +21.5 21529 2.9 FOXA2 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 ZNF121 RXRA SP5 APOC2 APOC1 APOC4 APOC4-APOC2 GC19P044927
GH19I044923 Enhancer 1.4 FANTOM5 Ensembl ENCODE 3.3 +11.8 11764 4.3 HDGF FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF143 FOS APOC1P1 GC19P044927 APOC2 APOC4 IGSF23 BCAM APOE APOC1 GC19P044915
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around APOC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the APOC1 gene promoter:

Genomic Locations for APOC1 Gene

Genomic Locations for APOC1 Gene
chr19:44,914,247-44,919,349
(GRCh38/hg38)
Size:
5,103 bases
Orientation:
Plus strand
chr19:45,417,504-45,422,606
(GRCh37/hg19)

Genomic View for APOC1 Gene

Genes around APOC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOC1 Gene

Proteins for APOC1 Gene

  • Protein details for APOC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02654-APOC1_HUMAN
    Recommended name:
    Apolipoprotein C-I
    Protein Accession:
    P02654
    Secondary Accessions:
    • B2R526
    • Q6IB97

    Protein attributes for APOC1 Gene

    Size:
    83 amino acids
    Molecular mass:
    9332 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Apolipoprotein C-I is present in acidic (APOC1A) and basic (APOC1B) forms in P.paniscus, P.abelii and P.troglodytes and perhaps also in baboons and macaques. The two genes for ApoC-I arose through a duplication process that occurred after the divergence of New World monkeys from the human lineage. In human, the acidic form has become a pseudogene sometime between the divergence of bonobos and chimpanzees from the human lineage and the appearance of the Denisovans. Pseudogenization resulted when the codon for the penultimate amino acid in the signal sequence was changed to a stop codon.

    Three dimensional structures from OCA and Proteopedia for APOC1 Gene

neXtProt entry for APOC1 Gene

Post-translational modifications for APOC1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for APOC1 Gene

Domains & Families for APOC1 Gene

Gene Families for APOC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for APOC1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for APOC1 Gene

Graphical View of Domain Structure for InterPro Entry

P02654

UniProtKB/Swiss-Prot:

APOC1_HUMAN :
  • Belongs to the apolipoprotein C1 family.
Family:
  • Belongs to the apolipoprotein C1 family.
genes like me logo Genes that share domains with APOC1: view

Function for APOC1 Gene

Molecular function for APOC1 Gene

GENATLAS Biochemistry:
apolipoprotein C-I,component of chylomicrons and VLDL
UniProtKB/Swiss-Prot 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 lipoproteins in the plasma and makes up about 10% of the protein of the VLDL and 2% of that of HDL. Appears to interfere directly with fatty acid uptake and is also the major plasma inhibitor of cholesteryl ester transfer protein (CETP). Binds free fatty acids and reduces their intracellular esterification. Modulates the interaction of APOE with beta-migrating VLDL and inhibits binding of beta-VLDL to the LDL receptor-related protein.

Phenotypes From GWAS Catalog for APOC1 Gene

Gene Ontology (GO) - Molecular Function for APOC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004859 phospholipase inhibitor activity IDA 2302419
GO:0005504 fatty acid binding IDA 17339654
GO:0031210 phosphatidylcholine binding TAS 2302419
GO:0055102 lipase inhibitor activity IDA 182536
GO:0060228 phosphatidylcholine-sterol O-acyltransferase activator activity TAS 18992221
genes like me logo Genes that share ontologies with APOC1: view
genes like me logo Genes that share phenotypes with APOC1: view

Animal Model Products

miRNA for APOC1 Gene

miRTarBase miRNAs that target APOC1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for APOC1 Gene

Localization for APOC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOC1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APOC1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4

Gene Ontology (GO) - Cellular Components for APOC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0034361 very-low-density lipoprotein particle IDA 15576844
GO:0034364 high-density lipoprotein particle IDA 15576844
GO:0042627 chylomicron TAS 18992221
genes like me logo Genes that share ontologies with APOC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for APOC1 Gene

Pathways & Interactions for APOC1 Gene

genes like me logo Genes that share pathways with APOC1: view

Pathways by source for APOC1 Gene

1 PharmGKB pathway for APOC1 Gene
1 KEGG pathway for APOC1 Gene

Interacting Proteins for APOC1 Gene

Gene Ontology (GO) - Biological Process for APOC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 2897845
GO:0006641 triglyceride metabolic process IEA --
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0008203 cholesterol metabolic process IEA --
genes like me logo Genes that share ontologies with APOC1: view

No data available for SIGNOR curated interactions for APOC1 Gene

Drugs & Compounds for APOC1 Gene

(7) Drugs for APOC1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ritonavir Approved, Investigational Pharma HIV protease inhibitor 897
Antivirals for treatment of HIV infections, combinations Pharma 0

(7) Additional Compounds for APOC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with APOC1: view

Transcripts for APOC1 Gene

Unigene Clusters for APOC1 Gene

Apolipoprotein C-I:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for APOC1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8
SP1: -
SP2: - -
SP3:
SP4:

Relevant External Links for APOC1 Gene

GeneLoc Exon Structure for
APOC1
ECgene alternative splicing isoforms for
APOC1

Expression for APOC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for APOC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for APOC1 Gene

This gene is overexpressed in Liver (x37.7) and Adrenal Gland (x4.8).

Protein differential expression in normal tissues from HIPED for APOC1 Gene

This gene is overexpressed in Serum (36.3) and Plasma (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for APOC1 Gene



Protein tissue co-expression partners for APOC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of APOC1 Gene:

APOC1

SOURCE GeneReport for Unigene cluster for APOC1 Gene:

Hs.110675

mRNA Expression by UniProt/SwissProt for APOC1 Gene:

P02654-APOC1_HUMAN
Tissue specificity: Synthesized mainly in liver and to a minor degree in intestine. Also found in the lung and spleen.

Evidence on tissue expression from TISSUES for APOC1 Gene

  • Liver(4.8)
  • Lung(4.4)
  • Nervous system(3.8)
  • Adrenal gland(2.8)
  • Blood(2.5)
  • Lymph node(2.2)
  • Spleen(2.2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with APOC1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for APOC1 Gene

Orthologs for APOC1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for APOC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APOC1 34
  • 99 (a)
OneToOne
APOC1A 33
  • 90.36 (n)
dog
(Canis familiaris)
Mammalia APOC1 34
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Apoc1 34
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APOC1 34
  • 39 (a)
OneToOne
Species where no ortholog for APOC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for APOC1 Gene

ENSEMBL:
Gene Tree for APOC1 (if available)
TreeFam:
Gene Tree for APOC1 (if available)

Paralogs for APOC1 Gene

Pseudogenes.org Pseudogenes for APOC1 Gene

genes like me logo Genes that share paralogs with APOC1: view

No data available for Paralogs for APOC1 Gene

Variants for APOC1 Gene

Sequence variations from dbSNP and Humsavar for APOC1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs4420638 not-provided, not provided 44,919,689(+) A/G downstream_transcript_variant
rs1000036279 -- 44,916,708(+) T/C intron_variant
rs1000660483 -- 44,916,406(+) T/A/C intron_variant
rs1000756644 -- 44,916,148(+) A/C intron_variant
rs1000797915 -- 44,915,286(+) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for APOC1 Gene

Variant ID Type Subtype PubMed ID
nsv509747 CNV insertion 20534489
nsv138296 CNV deletion 16902084

Variation tolerance for APOC1 Gene

Residual Variation Intolerance Score: 64.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.98; 20.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APOC1 Gene

Human Gene Mutation Database (HGMD)
APOC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APOC1 Gene

Disorders for APOC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for APOC1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
adermatoglyphia
  • aderm
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards
Search APOC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for APOC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with APOC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APOC1 Gene

Publications for APOC1 Gene

  1. APOC1 T45S polymorphism is associated with reduced obesity indices and lower plasma concentrations of leptin and apolipoprotein C-I in aboriginal Canadians. (PMID: 19812053) Lahiry P … Hegele RA (Journal of lipid research 2010) 3 22 44 58
  2. Association of apolipoproteins e4 and c1 with onset age and memory: a study of sporadic Alzheimer disease in Taiwan. (PMID: 20145290) Chuang WL … Huang CC (Journal of geriatric psychiatry and neurology 2010) 3 22 44 58
  3. ApoE and ApoC-I polymorphisms: association of genotype with cardiovascular disease phenotype in African Americans. (PMID: 19252179) Anuurad E … Berglund L (Journal of lipid research 2009) 3 22 44 58
  4. Apolipoprotein gene polymorphisms and plasma levels in healthy Tunisians and patients with coronary artery disease. (PMID: 19014618) Bahri R … Chaabani H (Lipids in health and disease 2008) 3 22 44 58
  5. Apolipoprotein C-I binds free fatty acids and reduces their intracellular esterification. (PMID: 17339654) Westerterp M … Rensen PC (Journal of lipid research 2007) 3 4 22 58

Products for APOC1 Gene

Sources for APOC1 Gene

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