|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeTo
|
gptkb:CERP
gptkb:TGD
ABC1
HDLCQTL13
|
|
gptkbp:associatedWith
|
gptkb:Tangier_disease
gptkb:familial_HDL_deficiency
|
|
gptkbp:chromosomeArm
|
q
|
|
gptkbp:discoveredIn
|
1999
|
|
gptkbp:encodes
|
ATP-binding cassette transporter A1
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000165029
19
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:placenta
liver
adipose tissue
macrophages
intestine
|
|
gptkbp:fullName
|
gptkb:ATP-binding_cassette_sub-family_A_member_1
|
|
gptkbp:function
|
cholesterol efflux
HDL formation
phospholipid efflux
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GO_term
|
integral component of plasma membrane
cholesterol transporter activity
phospholipid transporter activity
|
|
gptkbp:hasPseudogene
|
none
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:29
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ABCA1 gene
|
|
gptkbp:length
|
2261
|
|
gptkbp:locatedOnChromosome
|
gptkb:9q31.1
9
|
|
gptkbp:location
|
gptkb:cell_membrane
|
|
gptkbp:molecularWeight
|
~254 kDa
|
|
gptkbp:mutationAssociatedWith
|
increased risk of cardiovascular disease
low HDL cholesterol
|
|
gptkbp:OMIM
|
600046
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Abca1
|
|
gptkbp:pathway
|
lipid metabolism
reverse cholesterol transport
|
|
gptkbp:product
|
ABCA1 protein
|
|
gptkbp:regulates
|
regulated by PPARs
upregulated by LXR
|
|
gptkbp:UniProtID
|
gptkb:O95477
|
|
gptkbp:bfsParent
|
gptkb:LXRα
|
|
gptkbp:bfsLayer
|
7
|