Aliases for APOC1 Gene
Aliases for APOC1 Gene
External Ids for APOC1 Gene
- HGNC: 607
- Entrez Gene: 341
- Ensembl: ENSG00000130208
- OMIM: 107710
- UniProtKB: P02654
Previous GeneCards Identifiers for APOC1 Gene
- GC19P046062
- GC19P045808
- GC19P050093
- GC19P050109
- GC19P045417
- GC19P041848
Summaries 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. Among its related pathways are Statin Pathway and Lipoprotein metabolism. 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APOC1 Gene
Genomics for APOC1 Gene
Regulatory Elements for APOC1 Gene
Enhancers for APOC1 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH19G044934 | 1.1 | ENCODE | 7.5 | +21.5 | 21529 | 2.9 | HDGF FOXA2 MLX CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 YY1 | ZNF180 FBXO46 ZNF155 APOC2 RELB CEACAM19 ENSG00000269148 ZNF224 ENSG00000266958 APOC1 |
| GH19G044050 | 1.4 | FANTOM5 ENCODE | 5.7 | -862.2 | -862188 | 3.4 | PKNOX1 FOXA2 CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A ZNF2 YY1 CBX5 | ZNF45 ZNF223 ZNF180 ZNF155 ZNF225 ZNF284 ZNF224 ZNF234 XRCC1 MRPS15P2 |
| GH19G044923 | 1.7 | FANTOM5 Ensembl ENCODE | 3.3 | +11.8 | 11765 | 4.3 | HDGF FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 | APOC1P1 APOC2 APOC4 IGSF23 BCAM APOE APOC1 GC19P044915 |
| GH19G044909 | 1.4 | Ensembl ENCODE | 0.7 | -1.6 | -1559 | 6.3 | HDGF MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 FOS | APOE RELB NECTIN2 BCAM APOC1 GC19M044904 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around APOC1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the APOC1 gene promoter:
Regulatory Element Products
Genomic Location for APOC1 Gene
- Chromosome:
- 19
- Start:
- 44,914,247 bp from pter
- End:
- 44,919,349 bp from pter
- Size:
- 5,103 bases
- Orientation:
- Plus strand
Genomic View for APOC1 Gene
Genes around APOC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.32 by Ensembl
- 19q13.32 by Entrez Gene
- 19q13.32 by HGNC
APOC1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for APOC1 Gene
Post-translational modifications for APOC1 Gene
Other Protein References for APOC1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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- GeneTex APOC1 antibody for APOC1
-
Santa Cruz Biotechnology (SCBT) Antibodies for APOC1
Protein Products
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-
Cloud-Clone Corp. Proteins for APOC1
- antibodies-online Proteins for APOC1: See all 25
- Search antibodies-online for peptides
- Search GeneTex for Proteins for APOC1
No data available for DME Specific Peptides for APOC1 Gene
Domains & Families for APOC1 Gene
Gene Families for APOC1 Gene
- HGNC:
Protein Domains for APOC1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for APOC1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P02654- Family:
-
- Belongs to the apolipoprotein C1 family.
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.
| 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 |
Phenotypes for APOC1 Gene
- GenomeRNAi human phenotypes for APOC1:
-
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Synthetic lethal with Ras
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Decreased free cholesterol
- Decreased homologous recombination repair frequency
- Increased cell number in S
- Increased shRNA abundance
- Increased LDL uptake
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for APOC1 gene
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CRISPR Products
-
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-
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miRNA for APOC1 Gene
- miRTarBase miRNAs that target APOC1
miRNA Products
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Inhibitory RNA Products
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Clone Products
-
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for APOC1
-
ViGene Biosciences adenoviral particle packaged cDNA for APOC1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for APOC1 gene
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Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 4 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA,TAS | -- |
| 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 |
Pathways & Interactions for APOC1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Lipoprotein metabolism | ||
| 2 | Statin Pathway |
.71
|
|
| 3 | Metabolism |
.37
|
|
Pathways by source for APOC1 Gene
1 BioSystems pathway for APOC1 Gene
6 Reactome pathways for APOC1 Gene
1 PharmGKB pathway 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 | -- |
No data available for SIGNOR curated interactions for APOC1 Gene
Transcripts for APOC1 Gene
mRNA/cDNA for APOC1 Gene
- (3) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (1484) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for APOC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for APOC1
- GenScript: Design CRISPR guide RNA sequences for APOC1
miRNA Products
- Search ViGene Biosciences for APOC1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for APOC1
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Clone Products
-
OriGene ORF clones in human for APOC1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for APOC1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APOC1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||
| SP3: | |||||||||||||||||||||
| SP4: |
Expression for APOC1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Brain (Nervous System)
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Adrenal Gland (Endocrine System)
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).
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
NURSA nuclear receptor signaling pathways regulating expression of APOC1 Gene:
APOC1SOURCE GeneReport for Unigene cluster for APOC1 Gene:
Hs.110675mRNA 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(3.7)
- Adrenal gland(2.8)
- Blood(2.4)
- Lymph node(2.2)
- Spleen(2.2)
- Intestine(2)
Primer Products
-
OriGene qPCR primer pairs for APOC1
-
OriGene qPCR primer pairs and template standards for APOC1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | APOC1 35 |
|
OneToOne | |
| APOC1A 34 |
|
||||
| dog (Canis familiaris) |
Mammalia | APOC1 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Apoc1 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | APOC1 35 |
|
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)
Paralogs for APOC1 Gene
Pseudogenes.org Pseudogenes for APOC1 Gene
No data available for Paralogs for APOC1 Gene
Variants for APOC1 Gene
| SNP ID | Clin | Chr 19 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs4420638 | untested | 44,919,689(+) | TTCCT(A/G)GTGTG | downstream-variant-500B | |
| rs1000036279 | -- | 44,916,708(+) | CCAGC(C/T)AGTCG | intron-variant | |
| rs1000660483 | -- | 44,916,406(+) | ACAGA(C/T)TGAAA | intron-variant | |
| rs1000756644 | -- | 44,916,148(+) | AAAAA(A/C)AAAAA | intron-variant | |
| rs1000797915 | -- | 44,915,286(+) | GCCCC(A/C)CCAGG | intron-variant |
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)
Relevant External Links for APOC1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APOC1 Gene
Disorders for APOC1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| adermatoglyphia |
|
Search APOC1 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for APOC1
No data available for UniProtKB/Swiss-Prot and Genatlas for APOC1 Gene
Publications for APOC1 Gene
- 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 R.A. (J. Lipid Res. 2010) 3 22 46 64
- Association of apolipoproteins e4 and c1 with onset age and memory: a study of sporadic Alzheimer disease in Taiwan. (PMID: 20145290) Chuang W.L. … Huang C.C. (J Geriatr Psychiatry Neurol 2010) 3 22 46 64
- ApoE and ApoC-I polymorphisms: association of genotype with cardiovascular disease phenotype in African Americans. (PMID: 19252179) Anuurad E. … Berglund L. (J. Lipid Res. 2009) 3 22 46 64
- Apolipoprotein gene polymorphisms and plasma levels in healthy Tunisians and patients with coronary artery disease. (PMID: 19014618) Bahri R. … Chaabani H. (Lipids Health Dis 2008) 3 22 46 64
- Apolipoprotein C-I binds free fatty acids and reduces their intracellular esterification. (PMID: 17339654) Westerterp M. … Rensen P.C. (J. Lipid Res. 2007) 3 4 22 64
Products for APOC1 Gene
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- Horizon Cell Lines for APOC1
- Cyagen custom Knockout/knockin (KOKI) mouse models for APOC1
- VectorBuilder custom plasmid, inducible vectors for APOC1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APOC1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for APOC1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
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- (72) GenScript
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- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
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