Gene table of ABCA3 : ATP binding cassette subfamily A member 3

Gene-disease associations table

Disease IDDisease nameSource of annotation with ABCA3OMIM linkNumber of associated genesgenes
PS265120SUFACTANT METABOLISM DYSFUNCTION, PULMONARYClinVar, OMIM, HUMSAVAR link to OMIM 6CSF2RB, ABCA3, SFTPC, SFTPB, CSF2RAY, CSF2RA

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Annotation of the gene ABCA3

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
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
purine ribonucleoside triphosphate bindingGO:00356392.22
bindingGO:00054880.18
ATPase activityGO:00168873.65
heterocyclic compound bindingGO:19013631.06
purine nucleoside bindingGO:00018832.22
nucleoside bindingGO:00018822.21
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
nucleotide bindingGO:00001661.96
primary active transmembrane transporter activityGO:00153994.98
nucleoside phosphate bindingGO:19012651.96
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
active transmembrane transporter activityGO:00228043.85
lipid transporter activityGO:00053195.03
hydrolase activityGO:00167871.9
transporter activityGO:00052152.57
nucleoside-triphosphatase activityGO:00171113.09
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:00168183.03
substrate-specific transporter activityGO:00228922.72
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
hydrolase activity, acting on acid anhydridesGO:00168173.03
P-P-bond-hydrolysis-driven transmembrane transporter activityGO:00154054.98
pyrophosphatase activityGO:00164623.04
transmembrane transporter activityGO:00228572.82
adenyl ribonucleotide bindingGO:00325592.41
ATP bindingGO:00055242.43
purine ribonucleotide bindingGO:00325552.2
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19