ABCG8
entrez
64241
canonical
uniprot
Q9H221
canonical
ensembl
ENSG00000143921
resolver
ensp
ENSP00000272286
resolver
ensp
ENSP00000551952
resolver
genesymbol
ABCG8
resolver
hgnc
HGNC:13887
resolver
uniprot
Q53QN8
resolver
uniprot_entry
ABCG8_HUMAN
resolver
uniprot_sec
Q53QN8
resolver
activity_regulation
ACTIVITY REGULATION: The ATPase activity of the heterodimer is stimulated by cholate. Taurocholate, glycocholate, taurochenodeoxycholate, glycochenodeoxycholate and taurodeoxycholate also stimulate ATPase activity, but to a lower degree. Glycodeoxycholate has no significant effect on ATPase activity. ATPase activity is inhibited by vanadate and by berillium fluoride. {ECO:0000269|PubMed:20210363, ECO:0000269|PubMed:27144356}.
uniprot
proteins
amino_acid_sequence
MAGKAAEERGLPKGATPQDTSGLQDRLFSSESDNSLYFTYSGQPNTLEVRDLNYQVDLASQVPWFEQLAQFKMPWTSPSCQNSCELGIQNLSFKVRSGQMLAIIGSSGCGRASLLDVITGRGHGGKIKSGQIWINGQPSSPQLVRKCVAHVRQHNQLLPNLTVRETLAFIAQMRLPRTFSQAQRDKRVEDVIAELRLRQCADTRVGNMYVRGLSGGERRRVSIGVQLLWNPGILILDEPTSGLDSFTAHNLVKTLSRLAKGNRLVLISLHQPRSDIFRLFDLVLLMTSGTPIYLGAAQHMVQYFTAIGYPCPRYSNPADFYVDLTSIDRRSREQELATREKAQSLAALFLEKVRDLDDFLWKAETKDLDEDTCVESSVTPLDTNCLPSPTKMPGAVQQFTTLIRRQISNDFRDLPTLLIHGAEACLMSMTIGFLYFGHGSIQLSFMDTAALLFMIGALIPFNVILDVISKCYSERAMLYYELEDGLYTTGPYFFAKILGELPEHCAYIIIYGMPTYWLANLRPGLQPFLLHFLLVWLVVFCCRIMALAAAALLPTFHMASFFSNALYNSFYLAGGFMINLSSLWTVPAWISKVSFLRWCFEGLMKIQFSRRTYKMPLGNLTIAVSGDKILSVMELDSYPLYAIYLIVIGLSGGFMVLYYVSLRFIKQKPSQDW
uniprot
proteins
disease_involvement
DISEASE: Gallbladder disease 4 (GBD4) [MIM:611465]: One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes. {ECO:0000269|PubMed:17632509}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.; DISEASE: Sitosterolemia 1 (STSL1) [MIM:210250]: A form of sitosterolemia, an autosomal recessive metabolic disorder characterized by unregulated intestinal absorption of cholesterol, phytosterols and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease. {ECO:0000269|PubMed:11099417, ECO:0000269|PubMed:11452359, ECO:0000269|PubMed:15054092}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.6.2.-
uniprot
proteins
function
FUNCTION: ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11452359, PubMed:15054092, PubMed:27144356). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11452359, PubMed:15054092). The heterodimer with ABCG5 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356). {ECO:0000269|PubMed:11099417, ECO:0000269|PubMed:11452359, ECO:0000269|PubMed:15054092, ECO:0000269|PubMed:16893193, ECO:0000269|PubMed:27144356}.
uniprot
proteins
mass_dalton
75679
uniprot
proteins
mutagenesis
MUTAGEN 216; /note="G->D: Loss of ATPase activity."; /evidence="ECO:0000269|PubMed:27144356
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:16893193, ECO:0000269|PubMed:20210363}.
uniprot
proteins
protein_family
ABC transporter superfamily
uniprot
proteins
protein_family
ABCG family
uniprot
proteins
protein_family
Eye pigment precursor importer (TC 3.A.1.204) subfamily
uniprot
proteins
pubmed
11099417
uniprot
proteins
pubmed
11452359
uniprot
proteins
pubmed
11590207
uniprot
proteins
pubmed
11668628
uniprot
proteins
pubmed
12111378
uniprot
proteins
pubmed
14504269
uniprot
proteins
pubmed
15054092
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16893193
uniprot
proteins
pubmed
17632509
uniprot
proteins
pubmed
20210363
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27144356
uniprot
proteins
sequence_length
673
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:16893193}; Multi-pass membrane protein {ECO:0000269|PubMed:27144356}. Apical cell membrane {ECO:0000269|PubMed:14504269}; Multi-pass membrane protein {ECO:0000269|PubMed:27144356}.
uniprot
proteins
transmembrane_region
TRANSMEM 417..437; /note="Helical; Name=1"; /evidence="ECO:0000269|PubMed:27144356"; TRANSMEM 448..468; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:27144356"; TRANSMEM 498..518; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:27144356"; TRANSMEM 528..548; /note="Helical; Name=4"; /evidence="ECO:0000269|PubMed:27144356"; TRANSMEM 556..576; /note="Helical; Name=5"; /evidence="ECO:0000269|PubMed:27144356"; TRANSMEM 640..660; /note="Helical; Name=6"; /evidence="ECO:0000269|PubMed:27144356
uniprot
proteins