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Details on Person UniProt:Q02094 RHAG
| Class:Id | ReferenceGeneProduct:63044 |
|---|---|
| _chainChangeLog | chain:1-409 added on Fri February 6 2015 |
| _displayName | UniProt:Q02094 RHAG |
| _timestamp | 2024-11-03 19:53:38 |
| chain | chain:1-409 |
| checksum | F6F024399CC0C88D |
| comment | FUNCTION Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (PubMed:35835865). Heterotrimer with RHCE (RHAG)2(RHCE), that transports ammonium and its related derivative methylammonium, in both neutral and ionic forms, across the erythrocyte membrane (PubMed:11062476, PubMed:11861637, PubMed:15572441, PubMed:15856280, PubMed:19273840, PubMed:21849667, PubMed:22012326, PubMed:24077989, PubMed:26354748). The transport of NH4(+) is electrogenic and masks the NH3 transport (PubMed:26354748). Also, may act as a CO2 channel (PubMed:17712059, PubMed:19273840, PubMed:24077989). In vitro, leaks monovalent cations (PubMed:18931342, PubMed:21849667). Moreover in erythrocyte, regulates RHD membrane expression (PubMed:12130520) and is associated with rhesus blood group antigen expression (PubMed:12130520, PubMed:19744193).CATALYTIC ACTIVITY methylamine(out) = methylamine(in)CATALYTIC ACTIVITY NH4(+)(in) = NH4(+)(out)CATALYTIC ACTIVITY CO2(out) = CO2(in)BIOPHYSICOCHEMICAL PROPERTIES Homodimer (PubMed:35835865). Heterotrimer; a RHCE monomer interacts with a RHAG homodimer (PubMed:35835865). Component of the ankyrin-1 complex in the erythrocyte, composed of ANK1, RHCE, RHAG, SLC4A1, EPB42, GYPA, GYPB and AQP1 (PubMed:35835865). Interacts with GYPB (via the N-terminal); this interaction bridges the (RHAG)2(RHCE) heterotrimer with the SLC4A1 Band 3 I dimer complexed with GYPA (PubMed:35835865).INTERACTION Localization at the plasma membrane is regulated by ANK1.ALTERNATIVE PRODUCTS Erythrocytes.PTM Glycosylated.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.CAUTION Several mechanisms of transport has been proposed, namely electroneutral NH3 transport (PubMed:15572441, PubMed:19273840) and electroneutral NH4(+)/H(+) exchange (PubMed:11861637, PubMed:15572441, PubMed:19273840). However, Caner T. et al demonstrates that RHAG is unlikely to be NH4(+)/H(+) exchanger, but transports the ionic NH4(+) and the neutral NH3 species and that the transport of NH4(+) is electrogenic (PubMed:26354748). |
| description | recommendedName: fullName evidence="26"Ammonium transporter Rh type A alternativeName: Erythrocyte membrane glycoprotein Rh50 alternativeName: Erythrocyte plasma membrane 50 kDa glycoprotein shortName: Rh50A alternativeName: Rhesus blood group family type A glycoprotein shortName: Rh family type A glycoprotein shortName: Rh type A glycoprotein alternativeName: Rhesus blood group-associated ammonia channel alternativeName: Rhesus blood group-associated glycoprotein cdAntigenNameCD241/cdAntigenName |
| geneName | RHAG RH50 |
| identifier | Q02094 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Ammonia transport Direct protein sequencing Disease variant Glycoprotein Hereditary hemolytic anemia Membrane Proteomics identification Reference proteome Transmembrane Transmembrane helix Transport |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9841277] Weiser, Joel [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | RHAG |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8989769] ENSEMBL:ENSG00000112077 RHAG [Homo sapiens] |
| secondaryIdentifier | RHAG_HUMAN B2R8T8 O43514 O43515 Q7L8L3 Q9H454 |
| sequenceLength | 409 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:8970246] UniProt:Q02094-1 RHAG [Homo sapiens] [ReferenceIsoform:8970247] UniProt:Q02094-2 RHAG [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:444408] RHAG [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5623021] RHAG G280R [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5623024] RHAG V270I [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5623025] RHAG A363Lfs*15 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5623026] RHAG S79N [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5623035] RHAG G380V [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5623046] RHAG P52Dfs*57 [plasma membrane] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:5623019] glycine 280 replaced with L-arginine [ReplacedResidue:5623027] L-serine 79 replaced with L-asparagine [ReplacedResidue:5623030] glycine 380 replaced with L-valine [FragmentReplacedModification:5623031] Replacement of residues 52 to 107 by DVPRCTCYDICWVWLPHDLPEEIWLQQCGYQPTRCCFGPPVGHYCTGNPAKPGTEI [FragmentReplacedModification:5623040] Replacement of residues 363 to 376 by LHWVPLSEQQLLEV [ReplacedResidue:5623043] L-valine 270 replaced with L-isoleucine |
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No pathways have been reviewed or authored by UniProt:Q02094 RHAG (63044)
