• Gene id: 345

Gene Summary

• Gene Symbol: APOC3   Gene   UCSC   Ensembl
• Aliases: APOCIII
• Gene name: apolipoprotein C3
• Alternate names: apolipoprotein C-III,
• Gene location: 11q23.3 (116829906: 116833071)     Exons: 4     NC_000011.10
• Gene summary(Entrez): This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs
• OMIM: 618472

SNPs

rs118204043

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116628175C>T
NC_000006.11   g.116949338C>T
NG_012934.1   g.16697C>T
NM_001010892.2   c.1468C>T
NM_001010892.3   c.1468C>T
NM_001161664.1   c.1468C>T
XM_017010826.1   c.1468C>T
NP_001010892.1   p.Arg490Ter
NP_001155136.1   p.Arg490Ter
XP_016866315.1   p.

rs118204042

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116616948C>T
NC_000006.11   g.116938111C>T
NG_012934.1   g.5470C>T
NM_001010892.2   c.325C>T
NM_001010892.3   c.325C>T
NM_001161664.1   c.325C>T
XM_017010826.1   c.325C>T
NP_001010892.1   p.Gln109Ter
NP_001155136.1   p.Gln109Ter
XP_016866315.1   p.Gln10

rs118204041

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116617083C>T
NC_000006.11   g.116938246C>T
NG_012934.1   g.5605C>T
NM_001010892.2   c.460C>T
NM_001010892.3   c.460C>T
NM_001161664.1   c.460C>T
XM_017010826.1   c.460C>T
NP_001010892.1   p.Gln154Ter
NP_001155136.1   p.Gln154Ter
XP_016866315.1   p.Gln15

rs3779456

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27174938T>C
NC_000007.13   g.27214557T>C|SEQ=[T/C]|GENE=HOXA10
HOXA10-HOXA9   100534589

rs2430561

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.68158742T>A
NC_000012.11   g.68552522T>A
NG_015840.1   g.6000A>T|SEQ=[T/A]|GENE=IFNG

rs1422627

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45913480C>G
NC_000019.10   g.45913480C>T
NC_000019.9   g.46416738C>G
NC_000019.9   g.46416738C>T
NM_001029861.2   c.*797G>C
NM_001029861.2   c.*797G>A
NM_001029861.3   c.*797G>C
NM_001029861.3   c.*797G>A|SEQ=[C/G/T]|GENE=NANOS2

rs9304651

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45916515A>G
NC_000019.9   g.46419773A>G|SEQ=[A/G]|GENE=NANOS2

rs2015728

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45915628G>A
NC_000019.10   g.45915628G>T
NC_000019.9   g.46418886G>A
NC_000019.9   g.46418886G>T|SEQ=[G/A/T]|GENE=NANOS2

Protein Summary

• Protein general information: P02656  
  • Name: Apolipoprotein C III (Apo CIII) (ApoC III) (Apolipoprotein C3)
  • Length: 99  
  • Mass: 10852
  • Tissue specificity: Liver. {ECO
• Sequence:

  MQPRVLLVVALLALLASARASEAEDASLLSFMQGYMKHATKTAKDALSSVQESQVAQQARGWVTDGFSSLKDYWS
  TVKDKFSEFWDLDPEVRPTSAVAA

• Structural information:
  • Interpro: IPR008403  IPR038195  
  • PDB: 2JQ3
  • PDBsum: 2JQ3
  • STRING: ENSP00000227667
• Other Databases: GeneCards:  APOC3  Malacards:  APOC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006641	triglyceride metabolic process	IMP	biological process
GO:0005543	phospholipid binding	IBA	molecular function
GO:0010916	negative regulation of very-low-density lipoprotein particle clearance	IBA	biological process
GO:0010987	negative regulation of high-density lipoprotein particle clearance	IBA	biological process
GO:0010989	negative regulation of low-density lipoprotein particle clearance	IBA	biological process
GO:0034361	very-low-density lipoprotein particle	IBA	cellular component
GO:0034363	intermediate-density lipoprotein particle	IBA	cellular component
GO:0055102	lipase inhibitor activity	IBA	molecular function
GO:0010897	negative regulation of triglyceride catabolic process	IBA	biological process
GO:0034366	spherical high-density lipoprotein particle	IBA	cellular component
GO:0042627	chylomicron	IBA	cellular component
GO:0042632	cholesterol homeostasis	IBA	biological process
GO:0051005	negative regulation of lipoprotein lipase activity	IBA	biological process
GO:0070328	triglyceride homeostasis	IBA	biological process
GO:0070653	high-density lipoprotein particle receptor binding	IBA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0042157	lipoprotein metabolic process	IEA	biological process
GO:0006869	lipid transport	IEA	biological process
GO:0042627	chylomicron	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016042	lipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0034361	very-low-density lipoprotein particle	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0005769	early endosome	TAS	cellular component
GO:0005769	early endosome	TAS	cellular component
GO:0005769	early endosome	TAS	cellular component
GO:0034378	chylomicron assembly	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0034371	chylomicron remodeling	TAS	biological process
GO:0034375	high-density lipoprotein particle remodeling	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030234	enzyme regulator activity	IDA	molecular function
GO:0005543	phospholipid binding	IDA	molecular function
GO:0005543	phospholipid binding	IDA	molecular function
GO:0015485	cholesterol binding	IC	molecular function
GO:0055102	lipase inhibitor activity	IDA	molecular function
GO:0055102	lipase inhibitor activity	IDA	molecular function
GO:0055102	lipase inhibitor activity	IDA	molecular function
GO:0055102	lipase inhibitor activity	IDA	molecular function
GO:0070653	high-density lipoprotein particle receptor binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0010897	negative regulation of triglyceride catabolic process	IDA	biological process
GO:0010897	negative regulation of triglyceride catabolic process	IDA	biological process
GO:0019433	triglyceride catabolic process	IDA	biological process
GO:0032489	regulation of Cdc42 protein signal transduction	IDA	biological process
GO:0033344	cholesterol efflux	IDA	biological process
GO:0033344	cholesterol efflux	IDA	biological process
GO:0034366	spherical high-density lipoprotein particle	IDA	cellular component
GO:0042627	chylomicron	IDA	cellular component
GO:0043691	reverse cholesterol transport	IC	biological process
GO:0045717	negative regulation of fatty acid biosynthetic process	IDA	biological process
GO:0045717	negative regulation of fatty acid biosynthetic process	IDA	biological process
GO:0050995	negative regulation of lipid catabolic process	IDA	biological process
GO:0051005	negative regulation of lipoprotein lipase activity	IDA	biological process
GO:0051005	negative regulation of lipoprotein lipase activity	IDA	biological process
GO:0051005	negative regulation of lipoprotein lipase activity	IDA	biological process
GO:0034375	high-density lipoprotein particle remodeling	IMP	biological process
GO:0042632	cholesterol homeostasis	IMP	biological process
GO:0070328	triglyceride homeostasis	IMP	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IDA	biological process
GO:0010903	negative regulation of very-low-density lipoprotein particle remodeling	IC	biological process
GO:0010903	negative regulation of very-low-density lipoprotein particle remodeling	IDA	biological process
GO:0010916	negative regulation of very-low-density lipoprotein particle clearance	IDA	biological process
GO:0033700	phospholipid efflux	IDA	biological process
GO:0034361	very-low-density lipoprotein particle	IDA	cellular component
GO:0034361	very-low-density lipoprotein particle	IDA	cellular component
GO:0034361	very-low-density lipoprotein particle	IDA	cellular component
GO:0034363	intermediate-density lipoprotein particle	IDA	cellular component
GO:0034382	chylomicron remnant clearance	IDA	biological process
GO:0045833	negative regulation of lipid metabolic process	IDA	biological process
GO:0048261	negative regulation of receptor-mediated endocytosis	IDA	biological process
GO:0010987	negative regulation of high-density lipoprotein particle clearance	IMP	biological process
GO:0010989	negative regulation of low-density lipoprotein particle clearance	IMP	biological process
GO:0034379	very-low-density lipoprotein particle assembly	TAS	biological process
GO:0060621	negative regulation of cholesterol import	IMP	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03320	PPAR signaling pathway
hsa04979	Cholesterol metabolism

Diseases

Associated diseases	References
Hyperalphalipoproteinemia	KEGG:H01199
Hyperalphalipoproteinemia	KEGG:H01199
Lupus nephritis	PMID:17957542
Glucose intolerance	PMID:11959336
open-angle glaucoma	PMID:23860758
Nephrotic syndrome	PMID:8366982
Familial combined hyperlipidemia	PMID:9062353
Cognitive disorder	PMID:19424489
nephroblastoma	PMID:22160518
Hyperlipoproteinemia type III	PMID:2879788
Coronary artery disease	PMID:15059615
Coronary artery disease	PMID:14709372
Chronic kidney disease	PMID:21829457
Chronic kidney disease	PMID:21297177
Diabetic retinopathy	PMID:15642486
diabetes mellitus	PMID:2352345
type 1 diabetes mellitus	PMID:1579407
type 1 diabetes mellitus	PMID:16505251
obesity	PMID:9002300
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq