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Details on Person UniProt:Q9H222 ABCG5
| Class:Id | ReferenceGeneProduct:49450 |
|---|---|
| _chainChangeLog | chain:1-651 added on Fri February 6 2015 |
| _displayName | UniProt:Q9H222 ABCG5 |
| _timestamp | 2025-02-21 18:53:52 |
| chain | chain:1-651 |
| checksum | 950BABFCBB6A1536 |
| comment | 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).CATALYTIC ACTIVITY cholesterol(in) + ATP + H2O = cholesterol(out) + ADP + phosphate + H(+)CATALYTIC ACTIVITY sitosterol(in) + ATP + H2O = sitosterol(out) + ADP + phosphate + H(+)COFACTOR 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.SUBUNIT Heterodimer with ABCG8.INTERACTION Strongly expressed in the liver, lower levels in the small intestine and colon.DOMAIN The Walker motif (consensus sequence G-X-X-G-X-G-K-[ST]-T) is expected to bind ATP. Within this motif, the conserved Lys is essential for transport activity mediated by the heterodimer with ABCG8.PTM N-glycosylated.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.ONLINE INFORMATION Database for mutations in ABC proteins |
| description | recommendedName: fullName evidence="18"ATP-binding cassette sub-family G member 5 ecNumber evidence="1"7.6.2.- alternativeName: fullName evidence="15"Sterolin-1 |
| geneName | ABCG5 |
| identifier | Q9H222 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing ATP-binding Cell membrane Disease variant Glycoprotein Lipid transport Magnesium Membrane Metal-binding Nucleotide-binding Proteomics identification Reference proteome Translocase Transmembrane Transmembrane helix Transport |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | ABCG5 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8998133] ENSEMBL:ENSG00000138075 ABCG5 [Homo sapiens] |
| secondaryIdentifier | ABCG5_HUMAN Q2T9G2 Q96QZ2 Q96QZ3 |
| sequenceLength | 651 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:8968641] UniProt:Q9H222-1 ABCG5 [Homo sapiens] [ReferenceIsoform:8968642] UniProt:Q9H222-2 ABCG5 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:265448] ABCG5 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5679073] ABCG5 R419H [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5679089] ABCG5 R243* [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5679117] ABCG5 R408* [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5679132] ABCG5 Q16* [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5679142] ABCG5 R446* [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5679176] ABCG5 R389H [plasma membrane] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:5679082] L-arginine 419 replaced with L-histidine [NonsenseMutation:5679103] Nonsense mutation at L-arginine 446 [NonsenseMutation:5679109] Nonsense mutation at L-arginine 243 [NonsenseMutation:5679135] Nonsense mutation at L-arginine 408 [NonsenseMutation:5679168] Nonsense mutation at L-glutamine 16 [ReplacedResidue:5679184] L-arginine 389 replaced with L-histidine |
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No pathways have been reviewed or authored by UniProt:Q9H222 ABCG5 (49450)
