Gene table of ATP8B1 : ATPase phospholipid transporting 8B1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ATP8B1	OMIM link	Number of associated genes	genes
211600	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ATP8B1
243300	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ATP8B1
147480	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ATP8B1

Download the gene annotation in CSV format

Annotation of the gene ATP8B1

Associated genes in ENSEMBL

ENSG00000081923

Associated proteins - SwissProt Accession ID

O43520

Associated PDB IDs

Cytogenetic Band

18q21.31

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Ion channel transport	R-HSA-983712	5.34
Ion transport by P-type ATPases	R-HSA-936837	7.46
Transmembrane transport of small molecules	R-HSA-382551	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
magnesium ion binding	GO:0000287	4.41
purine ribonucleoside triphosphate binding	GO:0035639	2.22
phospholipid-translocating ATPase activity	GO:0004012	6.97
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
ion binding	GO:0043167	1.36
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
phospholipid transporter activity	GO:0005548	5.87
cation binding	GO:0043169	1.4
ATPase activity, coupled	GO:0042623	3.97
phospholipid binding	GO:0005543	3.91
nucleotide binding	GO:0000166	1.96
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
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
lipid binding	GO:0008289	3.26
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
purine ribonucleotide binding	GO:0032555	2.2
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
pyrophosphatase activity	GO:0016462	3.04
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
cardiolipin binding	GO:1901612	8.35
phosphatidylglycerol binding	GO:1901611	8.13
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19