ABCA1 (ATP binding cassette subfamily A member 1)

2008-10-01  

Identity

HGNC
ABCA1
LOCATION
9q31.1
LOCUSID
19
ALIAS
ABC-1,ABC1,CERP,HDLCQTL13,HDLDT1,HPALP1,TGD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 19
MIM: 600046
HGNC: 29
Ensembl: ENSG00000165029

Variants:

dbSNP: 19
ClinVar: 19
TCGA: ENSG00000165029
COSMIC: ABCA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165029ENST00000374733B1AMI1
ENSG00000165029ENST00000374736O95477
ENSG00000165029ENST00000423487B1AMI2

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Fat digestion and absorptionKEGGko04975
Fat digestion and absorptionKEGGhsa04975
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
HDL-mediated lipid transportREACTOMER-HSA-194223
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443797Coronary DiseaseDiseaseClinicalAnnotationassociatedPD19673941
PA444528HyperlipidemiasDiseaseClinicalAnnotationassociatedPD20031551
PA446120HypertriglyceridemiaDiseaseClinicalAnnotationassociatedPD
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD20031551
PA449594fenofibrateChemicalClinicalAnnotationassociatedPD
PA451089pravastatinChemicalClinicalAnnotationassociatedPD19673941, 20031551
PA451363simvastatinChemicalClinicalAnnotationassociatedPD20031551

References

Pubmed IDYearTitleCitations
379326542024Trimethylamine N-oxide promotes oxidative stress and lipid accumulation in macrophage foam cells via the Nrf2/ABCA1 pathway.4
380522542024Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay.0
384818162024ALKBH5 facilitates the progression of skin cutaneous melanoma via mediating ABCA1 demethylation and modulating autophagy in an m(6)A-dependent manner.0
387347752024Inflammatory corpuscle AIM2 facilitates macrophage foam cell formation by inhibiting cholesterol efflux protein ABCA1.0
387406362024Decreased mRNA expression of NR1H3 and ABCA1 in pulmonary tuberculosis patients from population of Punjab, India.0
389015342024The ABCA1 gene polymorphisms rs1800977 and rs2230806 are differentially associated with the risk for myocardial infarction in Slovenian subjects with type 2 diabetes mellitus.0
389285022024Identification and Molecular Simulation of Genetic Variants in ABCA1 Gene Associated with Susceptibility to Dyslipidemia in Type 2 Diabetes.0
379326542024Trimethylamine N-oxide promotes oxidative stress and lipid accumulation in macrophage foam cells via the Nrf2/ABCA1 pathway.4
380522542024Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay.0
384818162024ALKBH5 facilitates the progression of skin cutaneous melanoma via mediating ABCA1 demethylation and modulating autophagy in an m(6)A-dependent manner.0
387347752024Inflammatory corpuscle AIM2 facilitates macrophage foam cell formation by inhibiting cholesterol efflux protein ABCA1.0
387406362024Decreased mRNA expression of NR1H3 and ABCA1 in pulmonary tuberculosis patients from population of Punjab, India.0
389015342024The ABCA1 gene polymorphisms rs1800977 and rs2230806 are differentially associated with the risk for myocardial infarction in Slovenian subjects with type 2 diabetes mellitus.0
389285022024Identification and Molecular Simulation of Genetic Variants in ABCA1 Gene Associated with Susceptibility to Dyslipidemia in Type 2 Diabetes.0
362511372023Insulin Downregulates the Expression of ATP-binding Cassette Transporter A-I in Human Hepatoma Cell Line HepG2 in a FOXO1 and LXR Dependent Manner.1

Citation

Dessen P

ABCA1 (ATP binding cassette subfamily A member 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/50442/favicon/gene-fusions-explorer/js/lib/zoomerang.js