Gene table of ABCA1 : ATP binding cassette subfamily A member 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with ABCA1OMIM linkNumber of associated genesgenes
143890HYPERCHOLESTEROLEMIA, FAMILIALOMIM link to OMIM 10APOA2, ITIH4, EPHX2, PCSK9, STAP1, PPP1R17, ABCA1, APOB, LDLR, GHR
604091HYPOALPHALIPOPROTEINEMIA, PRIMARYClinVar, OMIM, HUMSAVAR link to OMIM 2APOA1, ABCA1
205400TANGIER DISEASEClinVar, OMIM, HUMSAVAR link to OMIM 2APOA1, ABCA1

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Annotation of the gene ABCA1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
ABC transportershsa020107.28
Fat digestion and absorptionhsa049757.45
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
PPARA activates gene expressionR-HSA-19897816.18
Lipoprotein metabolismR-HSA-1748248.23
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)R-HSA-4002066.14
HDL-mediated lipid transportR-HSA-1942239.08
MetabolismR-HSA-14307282.34
Lipid digestion, mobilization, and transportR-HSA-739237.2
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Fatty acid, triacylglycerol, and ketone body metabolismR-HSA-5357345.44
Associated GO terms for Molecular function
GO termGO IDGO IC
signaling receptor activityGO:00380232.49
signal transducer activityGO:00048712.28
purine ribonucleoside triphosphate bindingGO:00356392.22
GO:00302269.05
heterocyclic compound bindingGO:19013631.06
cholesterol transporter activityGO:00171277.17
small GTPase bindingGO:00312674.13
GTPase bindingGO:00510204.05
anion transmembrane transporter activityGO:00085094.43
bindingGO:00054880.18
ATPase activityGO:00168873.65
transmembrane receptor activityGO:00996002.53
nucleoside phosphate bindingGO:19012651.96
nucleoside bindingGO:00018822.21
phospholipid transporter activityGO:00055485.87
ATPase activity, coupled to transmembrane movement of substancesGO:00426265.06
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substancesGO:00168205.03
ATPase activity, coupledGO:00426233.97
SNARE bindingGO:00001494.87
phospholipid bindingGO:00055433.91
transmembrane transporter activityGO:00228572.82
transporter activityGO:00052152.57
nucleotide bindingGO:00001661.96
primary active transmembrane transporter activityGO:00153994.98
purine nucleoside bindingGO:00018832.22
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
ATP bindingGO:00055242.43
lipid transporter activityGO:00053195.03
hydrolase activityGO:00167871.9
sterol bindingGO:00329345.98
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:00168183.03
ATPase bindingGO:00511175.41
nucleoside-triphosphatase activityGO:00171113.09
lipid bindingGO:00082893.26
GO:00341889.05
catalytic activityGO:00038241.05
syntaxin bindingGO:00199055.19
enzyme bindingGO:00198992.27
steroid bindingGO:00054965.24
apolipoprotein bindingGO:00341856.97
apolipoprotein A-I bindingGO:00341868.64
substrate-specific transmembrane transporter activityGO:00228912.9
small molecule bindingGO:00360941.89
receptor bindingGO:00051022.43
substrate-specific transporter activityGO:00228922.72
molecular transducer activityGO:00600892.32
cholesterol bindingGO:00154856.1
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
ATPase activity, coupled to movement of substancesGO:00434924.93
alcohol bindingGO:00431785.53
hydrolase activity, acting on acid anhydridesGO:00168173.03
purine ribonucleoside bindingGO:00325502.22
ion transmembrane transporter activityGO:00150753.04
pyrophosphatase activityGO:00164623.04
transmembrane signaling receptor activityGO:00048882.57
adenyl ribonucleotide bindingGO:00325592.41
active transmembrane transporter activityGO:00228043.85
protein bindingGO:00055150.46
purine ribonucleotide bindingGO:00325552.2
sterol transporter activityGO:00152486.85
P-P-bond-hydrolysis-driven transmembrane transporter activityGO:00154054.98
ribonucleotide bindingGO:00325532.19
receptor activityGO:00048722.32