ABCG5
entrez
64240
canonical
uniprot
Q9H222
canonical
ensembl
ENSG00000138075
resolver
ensp
ENSP00000384513
resolver
ensp
ENSP00000552173
resolver
ensp
ENSP00000552174
resolver
ensp
ENSP00000667577
resolver
ensp
ENSP00000667584
resolver
ensp
ENSP00000777851
resolver
genesymbol
ABCG5
resolver
hgnc
HGNC:13886
resolver
uniprot
Q2T9G2
resolver
uniprot
Q96QZ2
resolver
uniprot
Q96QZ3
resolver
uniprot_entry
ABCG5_HUMAN
resolver
uniprot_sec
Q2T9G2
resolver
uniprot_sec
Q96QZ2
resolver
uniprot_sec
Q96QZ3
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
MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHASYSVSHRVRPWWDITSCRQQWTRQILKDVSLYVESGQIMCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRALRREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGNPGSFQKKVEAVMAELSLSHVADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELARRNRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDFYMDLTSVDTQSKEREIETSKRVQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTKDSPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLLFFVLRVRSNVLKGAIQDRVGLLYQFVGATPYTGMLNAVNLFPVLRAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATMIFSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIAGVLVGSGFLRNIQEMPIPFKIISYFTFQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPMCAFTQGIQFIEKTCPGATSRFTMNFLILYSFIPALVILGIVVFKIRDHLISR
uniprot
proteins
disease_involvement
DISEASE: Sitosterolemia 2 (STSL2) [MIM:618666]: 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:11138003, ECO:0000269|PubMed:11452359, ECO:0000269|PubMed:11668628, ECO:0000269|PubMed:15054092, ECO:0000269|PubMed:35557526}. 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 (PubMed:27144356). Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11138003, PubMed:15054092, PubMed:27144356). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11138003, PubMed:15054092). The heterodimer with ABCG8 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356). {ECO:0000269|PubMed:11138003, ECO:0000269|PubMed:15054092, ECO:0000269|PubMed:16893193, ECO:0000269|PubMed:20210363, ECO:0000269|PubMed:27144356, ECO:0000303|PubMed:11590207, ECO:0000305|PubMed:11099417}.
uniprot
proteins
mass_dalton
72504
uniprot
proteins
mutagenesis
MUTAGEN 92..93; /note="KT->RA: Abolishes increase of the very low basal ATPase activity by cholate."; /evidence="ECO:0000269|PubMed:20210363"; MUTAGEN 432; /note="Y->A: Strongly decreases cholesterol secretion into bile."; /evidence="ECO:0000269|PubMed:27144356"; MUTAGEN 540; /note="A->F: Strongly decreases cholesterol secretion into bile."; /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
11138003
uniprot
proteins
pubmed
11452359
uniprot
proteins
pubmed
11590207
uniprot
proteins
pubmed
11668628
uniprot
proteins
pubmed
14504269
uniprot
proteins
pubmed
15054092
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16893193
uniprot
proteins
pubmed
20210363
uniprot
proteins
pubmed
27144356
uniprot
proteins
pubmed
35557526
uniprot
proteins
sequence_length
651
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:16893193, ECO:0000305|PubMed:27144356}; 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 384..404; /note="Helical; Name=1"; /evidence="ECO:0000269|PubMed:27144356"; TRANSMEM 422..442; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:27144356"; TRANSMEM 468..489; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:27144356"; TRANSMEM 501..521; /note="Helical; Name=4"; /evidence="ECO:0000269|PubMed:27144356"; TRANSMEM 529..549; /note="Helical; Name=5"; /evidence="ECO:0000269|PubMed:27144356"; TRANSMEM 624..644; /note="Helical; Name=6"; /evidence="ECO:0000269|PubMed:27144356
uniprot
proteins