• Gene id: 341

Gene Summary

• Gene Symbol: APOC1   Gene   UCSC   Ensembl
• Aliases: Apo-CI, ApoC-I, apo-CIB, apoC-IB
• Gene name: apolipoprotein C1
• Alternate names: apolipoprotein C-I,
• Gene location: 19q13.32 (44914324: 44919345)     Exons: 5     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 107710

SNPs

rs868256749

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

NC_000012.12   g.63617303C>T
NC_000012.11   g.64011083C>T
NG_031909.1   g.56272G>A|SEQ=[C/T]|GENE=DPY19L2

rs751879424

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000012.12   g.63617339del
NC_000012.11   g.64011119del
NG_031909.1   g.56236del
NM_173812.4   c.1183del
NM_173812.5   c.1183del
XM_011538218.3   c.172del
XR_001748666.2   n.1335del
XM_006719352.2   c.754del
XM_017019192.2   c.1033del
XM_017019203.2   c.238del
XM_0170  

rs587777206

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

NC_000012.12   g.63624101G>A
NC_000012.11   g.64017881G>A
NG_031909.1   g.49474C>T
NM_173812.4   c.892C>T
NM_173812.5   c.892C>T
XR_001748666.2   n.1044C>T
XM_006719352.2   c.463C>T
XM_017019193.2   c.589C>T
XM_011538215.2   c.379C>T
XR_002957317.1   n.1044C>T
XR_002957  

rs587777205

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

NC_000012.12   g.63569312T>A
NC_000012.12   g.63569312T>G
NC_000012.11   g.63963092T>A
NC_000012.11   g.63963092T>G
NG_031909.1   g.104263A>T
NG_031909.1   g.104263A>C
NM_173812.4   c.2038A>T
NM_173812.4   c.2038A>C
NM_173812.5   c.2038A>T
NM_173812.5   c.2038A>C
XM_011  

rs147579680

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

NC_000012.12   g.63624124C>T
NC_000012.11   g.64017904C>T
NG_031909.1   g.49451G>A
NM_173812.4   c.869G>A
NM_173812.5   c.869G>A
XR_001748666.2   n.1021G>A
XM_006719352.2   c.440G>A
XM_017019193.2   c.566G>A
XM_011538215.2   c.356G>A
XR_002957317.1   n.1021G>A
XR_002957  

Protein Summary

• Protein general information: P02654  
  • Name: Apolipoprotein C I (Apo CI) (ApoC I) (Apolipoprotein C1) [Cleaved into: Truncated apolipoprotein C I]
  • Length: 83  
  • Mass: 9332
  • Tissue specificity: Synthesized mainly in liver and to a minor degree in intestine. Also found in the lung and spleen. {ECO
• Sequence:

  MRLFLSLPVLVVVLSIVLEGPAPAQGTPDVSSALDKLKEFGNTLEDKARELISRIKQSELSAKMREWFSETFQKV
  KEKLKIDS

• Structural information:
  • Interpro: IPR043081  IPR006781  
  • PDB: 1ALE 1ALF 1IOJ 1OPP 6DVU 6DXR 6DZ6 6NF3
  • PDBsum: 1ALE 1ALF 1IOJ 1OPP 6DVU 6DXR 6DZ6 6NF3
  • STRING: ENSP00000465356
• Other Databases: GeneCards:  APOC1  Malacards:  APOC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004859	phospholipase inhibitor activity	IBA	molecular function
GO:0005504	fatty acid binding	IBA	molecular function
GO:0050995	negative regulation of lipid catabolic process	IBA	biological process
GO:0051005	negative regulation of lipoprotein lipase activity	IBA	biological process
GO:0006641	triglyceride metabolic process	IBA	biological process
GO:0010916	negative regulation of very-low-density lipoprotein particle clearance	IBA	biological process
GO:0032375	negative regulation of cholesterol transport	IBA	biological process
GO:0034361	very-low-density lipoprotein particle	IBA	cellular component
GO:0034364	high-density lipoprotein particle	IBA	cellular component
GO:0034447	very-low-density lipoprotein particle clearance	IBA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0042157	lipoprotein metabolic process	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0034361	very-low-density lipoprotein particle	IEA	cellular component
GO:0006629	lipid metabolic process	TAS	biological process
GO:0034379	very-low-density lipoprotein particle assembly	TAS	biological process
GO:0034447	very-low-density lipoprotein particle clearance	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:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006641	triglyceride metabolic process	IEA	biological process
GO:0004859	phospholipase inhibitor activity	IDA	molecular function
GO:0005504	fatty acid binding	IDA	molecular function
GO:0031210	phosphatidylcholine binding	TAS	molecular function
GO:0060228	phosphatidylcholine-sterol O-acyltransferase activator activity	TAS	molecular function
GO:0055102	lipase inhibitor activity	IDA	molecular function
GO:0055102	lipase inhibitor activity	IDA	molecular function
GO:0010900	negative regulation of phosphatidylcholine catabolic process	IDA	biological process
GO:0032374	regulation of cholesterol transport	IC	biological process
GO:0033344	cholesterol efflux	IDA	biological process
GO:0034369	plasma lipoprotein particle remodeling	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:0034375	high-density lipoprotein particle remodeling	TAS	biological process
GO:0042627	chylomicron	TAS	cellular component
GO:0010916	negative regulation of very-low-density lipoprotein particle clearance	IDA	biological process
GO:0032375	negative regulation of cholesterol transport	IDA	biological process
GO:0033700	phospholipid efflux	IDA	biological process
GO:0034361	very-low-density lipoprotein particle	IDA	cellular component
GO:0034364	high-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:0010873	positive regulation of cholesterol esterification	TAS	biological process
GO:0034379	very-low-density lipoprotein particle assembly	TAS	biological process
GO:0034447	very-low-density lipoprotein particle clearance	IGI	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0043085	positive regulation of catalytic activity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04979	Cholesterol metabolism

Diseases

Associated diseases	References
Alzheimer's disease	PMID:11825674
pancreatic ductal carcinoma	PMID:15876873
type 2 diabetes mellitus	PMID:3757210
obesity	PMID:11723061
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881