• Gene id: 6005

Gene Summary

• Gene Symbol: RHAG   Gene   UCSC   Ensembl
• Aliases: CD241, OHS, OHST, RH2, RH50A, RHNR, Rh50, Rh50GP, SLC42A1
• Gene name: Rh associated glycoprotein
• Alternate names: ammonium transporter Rh type A, Rh 50 glycoprotein, Rhesus associated polypeptide, 50-KD, Rhesus blood group-associated glycoprotein, erythrocyte membrane glycoprotein Rh50, erythrocyte plasma membrane 50 kDa glycoprotein, mutant Rh associated glycoprotein, rh f,
• Gene location: 6p12.3 (49636873: 49605174)     Exons: 11     NC_000006.12
• Gene summary(Entrez): 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 R
• OMIM: 617685

Protein Summary

• Protein general information: Q02094  
  • Name: Ammonium transporter Rh type A (Erythrocyte membrane glycoprotein Rh50) (Erythrocyte plasma membrane 50 kDa glycoprotein) (Rh50A) (Rhesus blood group family type A glycoprotein) (Rh family type A glycoprotein) (Rh type A glycoprotein) (Rhesus blood group
  • Length: 409  
  • Mass: 44198
  • Tissue specificity: Erythrocytes. {ECO
• Sequence:

  MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVMIFVGFGFLMTFLKKY
  GFSSVGINLLVAALGLQWGTIVQGILQSQGQKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQMLIMTILEIV
  FFAHNEYLVSEIFKASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFWPSF
  NSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIG
  SIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVAMGASNTSMAMQAAALGSSIGTAVVG
  GLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR

• Structural information:
  • Interpro: IPR029020  IPR024041  IPR002229  
  • STRING: ENSP00000360217
• Other Databases: GeneCards:  RHAG  Malacards:  RHAG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008519	ammonium transmembrane transporter activity	IBA	molecular function
GO:0072488	ammonium transmembrane transport	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0015672	monovalent inorganic cation transport	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0022840	leak channel activity	IDA	molecular function
GO:0072488	ammonium transmembrane transport	IMP	biological process
GO:0008519	ammonium transmembrane transporter activity	IEA	molecular function
GO:0015696	ammonium transport	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015696	ammonium transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0015701	bicarbonate transport	TAS	biological process
GO:0035379	carbon dioxide transmembrane transporter activity	TAS	molecular function
GO:0035379	carbon dioxide transmembrane transporter activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0015701	bicarbonate transport	TAS	biological process
GO:0008519	ammonium transmembrane transporter activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048821	erythrocyte development	IEA	biological process
GO:0015696	ammonium transport	IEA	biological process
GO:0060586	multicellular organismal iron ion homeostasis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0035378	carbon dioxide transmembrane transport	IEA	biological process
GO:0035378	carbon dioxide transmembrane transport	IEA	biological process
GO:0015696	ammonium transport	IDA	biological process
GO:0015696	ammonium transport	IDA	biological process
GO:0015696	ammonium transport	IDA	biological process
GO:0015696	ammonium transport	IDA	biological process
GO:0015696	ammonium transport	IDA	biological process
GO:0015696	ammonium transport	IDA	biological process
GO:0008519	ammonium transmembrane transporter activity	IDA	molecular function
GO:0008519	ammonium transmembrane transporter activity	IDA	molecular function
GO:0006873	cellular ion homeostasis	IDA	biological process
GO:0015670	carbon dioxide transport	IDA	biological process
GO:0015670	carbon dioxide transport	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0008519	ammonium transmembrane transporter activity	IDA	molecular function
GO:0008519	ammonium transmembrane transporter activity	IDA	molecular function
GO:0008519	ammonium transmembrane transporter activity	IDA	molecular function
GO:0015670	carbon dioxide transport	IDA	biological process
GO:0030506	ankyrin binding	IPI	molecular function
GO:0015696	ammonium transport	IGI	biological process
GO:0008519	ammonium transmembrane transporter activity	IGI	molecular function
GO:0030506	ankyrin binding	IPI	molecular function

Diseases

Associated diseases	References
Hereditary stomatocytosis	KEGG:H00232
Rh-null hemolytic anemia	KEGG:H01214
Overhydrated hereditary stomatocytosis	KEGG:H01979
Hereditary stomatocytosis	KEGG:H00232
Rh-null hemolytic anemia	KEGG:H01214
Overhydrated hereditary stomatocytosis	KEGG:H01979
Hemolytic anemia	PMID:10467273
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq