Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
341
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Apolipoprotein C1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
APOC1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
APOC1B, Apo-CI, ApoC-I, apo-CIB, apoC-IB |
Chromosome
Chromosome number
|
19 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
19q13.32 |
Summary
Summary of gene provided in NCBI Entrez 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 ve |
UniProt ID |
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
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Alzheimer disease |
Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset |
rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 View all (65 more) |
30319691, 29107063, 29777097 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Congestive heart failure |
Congestive heart failure |
|
26670611 |
ClinVar |
Heart failure |
Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided |
|
26670611 |
ClinVar |
Myocardial infarction |
Myocardial Failure |
|
26670611 |
ClinVar |
Diabetes |
Diabetes |
|
|
GWAS |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
Coronary artery disease |
Coronary artery disease |
|
|
GWAS |
Myocardial Infarction |
Myocardial Infarction |
|
|
GWAS |
Coronary Heart Disease |
Coronary Heart Disease |
|
|
GWAS |
Hyperlipidemia |
Hyperlipidemia |
|
|
GWAS |
Hypertension |
Hypertension |
|
|
GWAS |
Cirrhosis |
Cirrhosis |
|
|
GWAS |
Insomnia |
Insomnia |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Acne Vulgaris |
Associate
|
29636060 |
Adenocarcinoma |
Stimulate
|
22247499 |
Adrenocortical Carcinoma |
Associate
|
40109215 |
Alzheimer Disease |
Associate
|
19442637, 20298972, 26421299, 26621834, 27805002, 28641921, 29107063, 29432188, 29739406, 29795290, 31346172, 31760383, 31915189, 32539856, 32896012, 32961112, 33090224, 33947463, 34625307, 35809216, 36399096, 37101235, 37386009 View all (8 more) |
Alzheimer Disease |
Stimulate
|
33372590 |
Atherosclerosis |
Associate
|
15808756 |
Atrophy |
Associate
|
31760383 |
Blood Coagulation Disorders |
Associate
|
36136292 |
Breast Neoplasms |
Associate
|
20237941, 21871081, 37268731 |
Carcinogenesis |
Associate
|
36969562 |
Carcinoma Non Small Cell Lung |
Inhibit
|
19925029 |
Carcinoma Renal Cell |
Stimulate
|
33305507 |
Carcinoma Renal Cell |
Associate
|
33591959 |
Cardiovascular Diseases |
Associate
|
19252179, 32231389 |
Cerebral Hemorrhage |
Associate
|
39298701 |
Cholangiocarcinoma |
Associate
|
40064358 |
Chronobiology Disorders |
Associate
|
22022282 |
Cognition Disorders |
Associate
|
31201950, 31760383 |
Colorectal Neoplasms |
Associate
|
27992526, 32023884, 34081622 |
Corneal Endothelial Cell Loss |
Associate
|
36136292 |
Coronary Artery Disease |
Associate
|
19252179, 20307520, 21187063, 23050023, 27350024, 29390587, 31870308, 37686357 |
Coronary Disease |
Associate
|
15808756, 19494537, 24859250, 27707806 |
Coronary Disease |
Stimulate
|
36691918 |
COVID 19 |
Associate
|
34232570 |
Dementia |
Associate
|
29739406 |
Diabetes Mellitus |
Stimulate
|
37686357 |
Diabetes Mellitus Type 1 |
Associate
|
37537394 |
Diabetes Mellitus Type 2 |
Associate
|
36658456 |
Diabetic Nephropathies |
Associate
|
19336575, 23555584, 39511608 |
Diffuse Neurofibrillary Tangles with Calcification |
Associate
|
35729600 |
Dysmenorrhea |
Associate
|
36136292 |
Endocrine System Diseases |
Associate
|
29636060 |
Endometrial Neoplasms |
Associate
|
19756734 |
Esophageal Neoplasms |
Associate
|
36969562 |
Esophageal Squamous Cell Carcinoma |
Associate
|
36709495, 36969562, 38172247 |
Glioblastoma |
Associate
|
31006040, 36216850 |
Glomerulonephritis Membranous |
Associate
|
37511514 |
Hyperaldosteronism |
Associate
|
34690553 |
Hyperlipoproteinemia Type V |
Associate
|
10064743 |
Hypertriglyceridemia |
Stimulate
|
35568684 |
Hypertriglyceridemia |
Associate
|
39662927 |
Hypoalphalipoproteinemias |
Stimulate
|
26667175 |
Inflammation |
Associate
|
29636060, 30945673, 32023884, 36969562 |
Kidney Diseases |
Associate
|
32174066 |
Lewy Body Disease |
Associate
|
35729600 |
Liver Cirrhosis |
Associate
|
17171788 |
Lymphatic Metastasis |
Stimulate
|
37310025 |
Mesothelioma Malignant |
Associate
|
19754208, 24361865 |
Metabolic Diseases |
Associate
|
29636060 |
Metabolic Syndrome |
Associate
|
19252179, 22022282, 33163038, 36011277, 38201907 |
Multiple Sclerosis |
Stimulate
|
33603109 |
Neoplasm Metastasis |
Stimulate
|
32665038, 34081622 |
Neoplasm Metastasis |
Associate
|
33591959 |
Neoplasms |
Associate
|
33591959, 34498424, 34857818, 36709495, 36969562, 37305389, 38172247, 40109215 |
Nephrotic Syndrome |
Stimulate
|
37511514 |
Neurodegenerative Diseases |
Associate
|
32539856 |
Obesity |
Associate
|
19812053, 33163038 |
Osteoarthritis |
Associate
|
39258983 |
Pancreatic Neoplasms |
Associate
|
20588270 |
Peripheral Nervous System Diseases |
Associate
|
21622202 |
Pneumonia Lipid |
Associate
|
25005712 |
Polycystic Ovary Syndrome |
Associate
|
29636060 |
Retinal Telangiectasis |
Stimulate
|
27416065 |
Stomach Neoplasms |
Associate
|
21267442, 21931799 |
Stomach Neoplasms |
Stimulate
|
37305389 |
Thyroid Cancer Papillary |
Associate
|
19785722 |
Thyroid Neoplasms |
Associate
|
40157360 |
Uterine Cervical Neoplasms |
Associate
|
34498424, 36536343, 39346086 |
|