Gene table of ABCD3 : ATP binding cassette subfamily D member 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ABCD3	OMIM link	Number of associated genes	genes
PS607765	BILE ACID SYNTHESIS DEFECT, CONGENITAL	OMIM	link to OMIM	5	AMACR, AKR1D1, CYP7B1, HSD3B7, ABCD3

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Annotation of the gene ABCD3

Associated genes in ENSEMBL

ENSG00000117528

Associated proteins - SwissProt Accession ID

P28288

Associated PDB IDs

Cytogenetic Band

1p21.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
ABC transporters	hsa02010	7.28
Peroxisome	hsa04146	6.34

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
ABC-family proteins mediated transport	R-HSA-382556	7.59
ABC transporters in lipid homeostasis	R-HSA-1369062	9.08
Transmembrane transport of small molecules	R-HSA-382551	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
ATP binding	GO:0005524	2.43
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
ATPase activity, coupled to transmembrane movement of substances	GO:0042626	5.06
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	GO:0016820	5.03
ATPase activity, coupled	GO:0042623	3.97
nucleotide binding	GO:0000166	1.96
primary active transmembrane transporter activity	GO:0015399	4.98
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16
lipid transporter activity	GO:0005319	5.03
hydrolase activity	GO:0016787	1.9
transporter activity	GO:0005215	2.57
nucleoside-triphosphatase activity	GO:0017111	3.09
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
	GO:0005324	8.13
protein self-association	GO:0043621	5.93
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
substrate-specific transporter activity	GO:0022892	2.72
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
ATPase activity, coupled to movement of substances	GO:0043492	4.93
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
purine ribonucleoside binding	GO:0032550	2.22
pyrophosphatase activity	GO:0016462	3.04
transmembrane transporter activity	GO:0022857	2.82
adenyl ribonucleotide binding	GO:0032559	2.41
active transmembrane transporter activity	GO:0022804	3.85
protein binding	GO:0005515	0.46
fatty acid transporter activity	GO:0015245	7.25
purine ribonucleotide binding	GO:0032555	2.2
protein dimerization activity	GO:0046983	2.72
P-P-bond-hydrolysis-driven transmembrane transporter activity	GO:0015405	4.98
ribonucleotide binding	GO:0032553	2.19