Human Gene RHAG (uc003ozk.4) Description and Page Index
Description: Homo sapiens Rh-associated glycoprotein (RHAG), mRNA. RefSeq Summary (NM_000324): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X64594.1, BC012605.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr6:49,572,890-49,604,587 Size: 31,698 Total Exon Count: 10 Strand: - Coding Region Position: hg19 chr6:49,573,526-49,604,525 Size: 31,000 Coding Exon Count: 10
ID:RHAG_HUMAN DESCRIPTION: RecName: Full=Ammonium transporter Rh type A; AltName: Full=Erythrocyte membrane glycoprotein Rh50; AltName: Full=Erythrocyte plasma membrane 50 kDa glycoprotein; Short=Rh50A; AltName: Full=Rhesus blood group family type A glycoprotein; Short=Rh family type A glycoprotein; Short=Rh type A glycoprotein; AltName: Full=Rhesus blood group-associated ammonia channel; AltName: Full=Rhesus blood group-associated glycoprotein; AltName: CD_antigen=CD241; FUNCTION: Associated with rhesus blood group antigen expression. May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane. SUBUNIT: Heterotetramer. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Erythrocytes. DISEASE: Defects in RHAG are the cause of regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]; also known as Rh-deficiency syndrome. RHN is a form of chronic hemolytic anemia in which the red blood cells have a stomatocytosis and spherocytosis morphology, an increased osmotic fragility, an altered ion transport system, and abnormal membrane phospholipid organization. SIMILARITY: Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): RHAG CDC HuGE Published Literature: RHAG Positive Disease Associations: Lipoproteins, VLDL Related Studies:
Lipoproteins, VLDL Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q02094
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
R-HSA-444416 RHAG transports NH4+ from cytosol to extracellular region (red blood cells) R-HSA-1237069 RhAG passively translocates carbon dioxide from the extracellular region to the cytosol R-HSA-1247645 RhAG passively translocates carbon dioxide from the cytosol to the extracellular region R-HSA-444411 Rhesus glycoproteins mediate ammonium transport. R-HSA-1237044 Erythrocytes take up carbon dioxide and release oxygen R-HSA-1247673 Erythrocytes take up oxygen and release carbon dioxide R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds R-HSA-425428 Amine compound SLC transporters R-HSA-1480926 O2/CO2 exchange in erythrocytes R-HSA-425407 SLC-mediated transmembrane transport R-HSA-382551 Transport of small molecules