| Tbio | Ammonium transporter Rh type A |
Associated with rhesus blood group antigen expression (PubMed:19744193). May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane (PubMed:11062476, PubMed:11861637). Involved in ammonia transport across the erythrocyte membrane (PubMed:21849667, PubMed:22012326). Seems to act in monovalent cation transport (PubMed:18931342, PubMed:21849667).
The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009]
The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009]
Comments
| Disease | Target Count |
|---|---|
| Rh Deficiency Syndrome | 3 |
| Disease | Target Count | P-value |
|---|---|---|
| osteosarcoma | 7933 | 1.5e-12 |
| psoriasis | 6685 | 6.0e-11 |
| medulloblastoma, large-cell | 6234 | 3.4e-05 |
| mucosa-associated lymphoid tissue lymphoma | 480 | 2.4e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Congenital hemolytic anemia | 31 | 0.0 | 4.0 |
| Disease | Target Count |
|---|---|
| Rh-Null, Regulator Type | 1 |
| STOMATOCYTOSIS I | 1 |
| Disease | Target Count |
|---|---|
| Overhydrated hereditary stomatocytosis | 1 |
| Regulator type Rh-null hemolytic anemia | 1 |
| Disease | log2 FC | p |
|---|---|---|
| osteosarcoma | -6.769 | 1.5e-12 |
| medulloblastoma, large-cell | 1.200 | 3.4e-05 |
| mucosa-associated lymphoid tissue lympho... | 2.351 | 2.4e-02 |
| psoriasis | -1.500 | 6.0e-11 |
| PMID | Text | |
|---|---|---|
| 26354748 | We characterized ammonia and ammonium (NH3/NH4 (+)) transport by the rhesus-associated (Rh) glycoproteins RhAG, Rhbg, and Rhcg expressed in Xenopus oocytes. We used ion-selective microelectrodes and two-electrode voltage clamp to measure changes in intracellular pH, surface pH, and whole cell currents induced by NH3/NH4 (+) and methyl amine/ammonium (MA/MA(+)). | |
| 26175207 | novel allele in a Brazilian pregnant woman encoding the Rhnull phenotype due to a change in RHAG exon2 c.310C>T, which leads to a premature stop codon (Gln104Stop). | |
| 25296744 | A new Rh null allele (RHAG*01N.13) of the regulator type found in a consanguineous French-speaking quebecers'family. | |
| 24077989 | RhAG, RhBG and RhCG-exhibit significant permeability to NH3 and show for the first time that RhBG and RhCG can conduct CO2. | |
| 23417980 | Data from differentiating cultured erythroid precursor cells suggest that RhAG knockdown abolishes Rh blood group expression (RhoD [ras homolog family member D]; ICAM4 [intercellular adhesion molecule 4]; CD47 Rh-related antigen) in erythroid cells. | |
| 22012326 | Results provide new insights into the functional impact of the Phe65Ser mutation in RhAG. | |
| 21883272 | Substitution of GPB with Gp.Mur significantly reduced the expression of Rh antigen and RhAG on the Mi.III(+/+) erythrocyte membrane | |
| 21849667 | The results provide new insight into RhAG stomatocytosis mutant F65S as a combined loss-of-function/gain-of-function mutation for methylammonium/methylammonium+ transport | |
| 21682734 | that the 672C>A missense mutation in the RHAG gene could result in Rh(null) of the regulator type, and the single-amino-acid change (Ser to Arg) might be critical for assembly of the Rh antigen complex within the membrane | |
| 19273840 | gas channels exhibit selectivity for CO(2) vs. NH(3) permeability, demonstrating the sequence AQP4 congruent with AQP5 > AQP1 > AmtB > RhAG. | |
| 18931342 | Reduced amounts of Rh-associated glycoprotein is associated with overhydrated hereditary stomatocytosis. | |
| 17712059 | Rh protein, presumably the Rh-associated glycoprotein RhAG, possesses a gas channel that allows passage of CO2 in addition to NH3 | |
| 16574458 | Review. RhAG plays a major role in the NH3 conductance of erythrocytes, but probably not in CO2 transport. | |
| 16564724 | RhAG expression enhanced the ammonium-induced initial alkalinization (related to NH3 influx)& secondary acidification (related to NH4+ influx). Sub-millimolar NH4+ concentrations induced inward currents in voltage-clamped RhAG-expressing cells. | |
| 16563829 | RhAG-mediated transport is an electroneutral process that is driven by the NH4+ concentration and the transmembrane H+ gradient, effectively exchanging NH4+ for H+ in a process that results in transport of net NH3. | |
| 16378686 | Observational study of gene-disease association. (HuGE Navigator) | |
| 16378686 | The combination of these polymorphisms could not be found in any control individuals, suggesting that they might be involved in genetic predisposition to migraine in this family. | |
| 15572441 | RhAG facilitates CH(3)NH(2)/NH(3) movement across the RBC membrane and represents a potential example of a gas channel in mammalian cells. | |
| 14966114 | RhAG functions as a NH(4)(+)/H(+) exchanger; ammonium transport is coupled to the H(+) gradient | |
| 12393442 | interactions of CD47 and RhAG and the Rh proteins with one another and with the cytoskeleton of intact erythrocytes | |
| 12130520 | Cell-surface expression of RhD blood group polypeptide is posttranscriptionally regulated by the RhAG glycoprotein. | |
| 11861637 | identification as a mammalian ammonium transporter |
MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVMIFVGFGFLMT 1 - 70 FLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQGQKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQ 71 - 140 MLIMTILEIVFFAHNEYLVSEIFKASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLF 141 - 210 AMIGTLFLWMFWPSFNSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGG 211 - 280 VAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVA 281 - 350 MGASNTSMAMQAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR 351 - 409 //
| PMID | Year | Title | |
|---|---|---|---|
| 26354748 | 2015 | Mechanisms of ammonia and ammonium transport by rhesus-associated glycoproteins. | |
| 26175207 | 2015 | Novel RHAG allele encoding the Rh(null) phenotype in Brazil. | |
| 25296744 | 2015 | A new Rhnull allele in francophone Quebecers. | |
| 24077989 | 2013 | Relative CO?/NH? permeabilities of human RhAG, RhBG and RhCG. | |
| 23417980 | 2013 | In vitro generated Rh(null) red cells recapitulate the in vivo deficiency: a model for rare blood group phenotypes and erythroid membrane disorders. | |
| 22012326 | 2012 | Human RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cells. | |
| 21883272 | 2012 | Expression of the Rh/RhAG complex is reduced in Mi.III erythrocytes. | |
| 21849667 | 2011 | Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S. | |
| 21682734 | 2011 | A family study of the Chinese Rhnull individual of the regulator type: a novel single missense mutation identified in RHAG gene. | |
| 19744193 | 2010 | A new blood group system, RHAG: three antigens resulting from amino acid substitutions in the Rh-associated glycoprotein. | |
| 19273840 | 2009 | Relative CO2/NH3 selectivities of AQP1, AQP4, AQP5, AmtB, and RhAG. | |
| 18931342 | 2009 | The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein. | |
| 17712059 | 2008 | RhAG protein of the Rhesus complex is a CO2 channel in the human red cell membrane. | |
| 16866382 | 2006 | Rapid exchange of fluoroethylamine via the Rhesus complex in human erythrocytes: 19F NMR magnetization transfer analysis showing competition by ammonia and ammonia analogues. | |
| 16580865 | Functional interaction between Rh proteins and the spectrin-based skeleton in erythroid and epithelial cells. | ||
| 16574458 | Role of RhAG and AQP1 in NH3 and CO2 gas transport in red cell ghosts: a stopped-flow analysis. | ||
| 16564724 | The challenge of understanding ammonium homeostasis and the role of the Rh glycoproteins. | ||
| 16563829 | Transport characteristics of mammalian Rh and Rh glycoproteins expressed in heterologous systems. | ||
| 16378686 | 2006 | Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG. | |
| 16227429 | 2005 | Evolutionary conservation and diversification of Rh family genes and proteins. | |
| 15929723 | 2005 | Human Rhesus B and Rhesus C glycoproteins: properties of facilitated ammonium transport in recombinant kidney cells. | |
| 15856280 | 2005 | Expression of the human erythroid Rh glycoprotein (RhAG) enhances both NH3 and NH4+ transport in HeLa cells. | |
| 15572441 | 2004 | Human Rhesus-associated glycoprotein mediates facilitated transport of NH(3) into red blood cells. | |
| 14966114 | 2004 | Mechanism of genetic complementation of ammonium transport in yeast by human erythrocyte Rh-associated glycoprotein. | |
| 14702039 | 2004 | Complete sequencing and characterization of 21,243 full-length human cDNAs. | |
| 14574404 | 2003 | The DNA sequence and analysis of human chromosome 6. | |
| 12846905 | 2003 | The Rh complex exports ammonium from human red blood cells. | |
| 12719424 | 2003 | Rh-RhAG/ankyrin-R, a new interaction site between the membrane bilayer and the red cell skeleton, is impaired by Rh(null)-associated mutation. | |
| 12531814 | 2003 | A band 3-based macrocomplex of integral and peripheral proteins in the RBC membrane. | |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | |
| 12393442 | 2003 | Fractional attachment of CD47 (IAP) to the erythrocyte cytoskeleton and visual colocalization with Rh protein complexes. | |
| 12204676 | 2002 | RhCG is downregulated in oesophageal squamous cell carcinomas, but expressed in multiple squamous epithelia. | |
| 12130520 | 2002 | Cell-surface expression of RhD blood group polypeptide is posttranscriptionally regulated by the RhAG glycoprotein. | |
| 11861637 | 2002 | Identification of the erythrocyte Rh blood group glycoprotein as a mammalian ammonium transporter. | |
| 11062476 | 2000 | The human Rhesus-associated RhAG protein and a kidney homologue promote ammonium transport in yeast. | |
| 10862620 | 2000 | Cloning and characterization of erythroid-specific DNase I-hypersensitive site in human rhesus-associated glycoprotein gene. | |
| 10467273 | 1999 | Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene. | |
| 9915949 | 1999 | Rhmod syndrome: a family study of the translation-initiator mutation in the Rh50 glycoprotein gene. | |
| 9746795 | 1998 | Rh-deficiency of the regulator type caused by splicing mutations in the human RH50 gene. | |
| 9716608 | 1998 | Rh50 glycoprotein gene and rhnull disease: a silent splice donor is trans to a Gly279-->Glu missense mutation in the conserved transmembrane segment. | |
| 9479501 | 1998 | Organization of the human RH50A gene (RHAG) and evolution of base composition of the RH gene family. | |
| 9473510 | 1998 | Identification of 5' flanking sequence of RH50 gene and the core region for erythroid-specific expression. | |
| 9454778 | 1998 | A novel single missense mutation identified along the RH50 gene in a composite heterozygous Rhnull blood donor of the regulator type. | |
| 9442063 | 1998 | The human Rh50 glycoprotein gene. Structural organization and associated splicing defect resulting in Rh(null) disease. | |
| 8563755 | 1996 | Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency. | |
| 3146980 | 1988 | Protein-sequence studies on Rh-related polypeptides suggest the presence of at least two groups of proteins which associate in the human red-cell membrane. | |
| 1417776 | 1992 | Isolation of cDNA clones for a 50 kDa glycoprotein of the human erythrocyte membrane associated with Rh (rhesus) blood-group antigen expression. |
