RHAG - Rh associated glycoprotein Gene

Homo sapiens

Also known as OHS; RH2; OHST; RHNR; Rh50; CD241; RH50A; Rh50GP; SLC42A1

Gene ID: 6005 | Gene type: protein coding

About RHAG

Cytogenetic location: 6p12.3 Genomic coordinates (GRCh38): 6:49,605,175-49,636,839 (from NCBI)

This gene has 6 transcripts (splice variants), 213 orthologues, 4 paralogues and is associated with 4 phenotypes. Restricted expression toward bone marrow (RPKM 40.5).

Summary

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]

RHAG Products(1)

mRNA	Protein	Name
NM_000324.3	NP_000315.2	ammonium transporter Rh type A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ammonium channel activity	IDA IDA: Inferred from direct assay	15856280	GOA
enables ammonium channel activity	IGI IGI: Inferred from genetic interaction	11062476	GOA
enables ankyrin binding	IPI IPI: Inferred from physical interaction	12719424	GOA
enables carbon dioxide transmembrane transporter activity	IDA IDA: Inferred from direct assay	19273840	GOA
enables leak channel activity	IDA IDA: Inferred from direct assay	18931342	GOA
enables methylammonium transmembrane transporter activity	IDA IDA: Inferred from direct assay	15856280	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ammonium transmembrane transport	IDA IDA: Inferred from direct assay	11861637	GOA
involved in ammonium transmembrane transport	IGI IGI: Inferred from genetic interaction	11062476	GOA
involved in ammonium transmembrane transport	IMP IMP: Inferred from mutant phenotype	22012326	GOA
involved in carbon dioxide transmembrane transport	IDA IDA: Inferred from direct assay	19273840	GOA
involved in carbon dioxide transport	IDA IDA: Inferred from direct assay	16574458	GOA
involved in inorganic cation transmembrane transport	IDA IDA: Inferred from direct assay	18931342	GOA
involved in intracellular monoatomic ion homeostasis	IDA IDA: Inferred from direct assay	15856280	GOA
involved in methylammonium transmembrane transport	IDA IDA: Inferred from direct assay	15856280	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of ankyrin-1 complex	IDA IDA: Inferred from direct assay	35835865	GOA
located in membrane	IDA IDA: Inferred from direct assay	22012326	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	15929723	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RHAG Protein Structure

Ammonium_transp

0
100
200
300
409 a.a.

Protein Preferred Names

Protein Names

ammonium transporter Rh type A

Rh 50 glycoprotein

RHAG Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RHAG	Q02094	UNC93A	Homo sapiens	Q86WB7-2	Validated Y2H	32296183
Intra	RHAG	Q02094	UNC93A	Homo sapiens	Q86WB7-2	Y2H Array	32296183
Intra	RHAG	Q02094	UNC93A	Homo sapiens	Q86WB7-2	Y2H Prey Pooling	32296183
Intra	RHAG	Q02094	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
Intra	RHAG	Q02094	FAM209A	Homo sapiens	Q5JX71	Validated Y2H	32296183
Intra	RHAG	Q02094	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
Intra	RHAG	Q02094	TEX29	Homo sapiens	Q8N6K0	Y2H Prey Pooling	32296183
Intra	RHAG	Q02094	TEX29	Homo sapiens	Q8N6K0	Validated Y2H	32296183
Intra	RHAG	Q02094	TEX29	Homo sapiens	Q8N6K0	Y2H Array	32296183
Intra	RHAG	Q02094	ERGIC3	Homo sapiens	Q9Y282	Validated Y2H	32296183
Intra	RHAG	Q02094	ERGIC3	Homo sapiens	Q9Y282	Y2H Array	32296183
Intra	RHAG	Q02094	ERGIC3	Homo sapiens	Q9Y282	Y2H Prey Pooling	32296183
Intra	RHAG	Q02094	CREB3L3	Homo sapiens	Q68CJ9	Validated Y2H	32296183
Intra	RHAG	Q02094	CREB3L3	Homo sapiens	Q68CJ9	Y2H Array	32296183
Intra	RHAG	Q02094	CREB3L3	Homo sapiens	Q68CJ9	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Overhydrated Hereditary Stomatocytosis

Ohs	Potassium Sodium Disorder Of Erythrocyte
OHST	Stomatocytosis I
Potassium-Sodium Disorder Of Erythrocyte	Stomatocytosisiohst
Hereditary, Overhydrated, Cation-Leak Stomatocytosis	Overhydrated Cation Leak Stomatocytosis
Stomatocytosis, Overhydrated Hereditary

Rh-Null, Regulator Type

Anemia, Hemolytic, Rh-Null, Regulator Type	RHNR
Rh-Null Hemolytic Anemia, Regulator Type	Rh-Null Disease, Regulator Type
Regulator Type Rh-Null Hemolytic Anemia	RHN
Rh-Deficiency Syndrome	Rh Deficiency Syndrome

Hemolytic Disease Of Fetus And Newborn, Rh-Induced

Rh Deficiency Syndrome	Rh Disease
HDFNRH	Rh Fetomaternal Incompatibility
Rh-Null Syndrome

Hemolytic Anemia

Anemia, Hemolytic	Anemia Hemolytic
Anaemia Due To Other Disorders Of Glutathione Metabolism	Chronic Non Spherocytic Anaemia
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia	Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia	Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
Favism Anaemia	Haemolytic Anaemia Due Tog6pd Deficiency
Favism	Pentose Phosphate Pathway Disorder Anaemia
Anaemia Due To Pentose Phosphate Pathway Defect

Hereditary Stomatocytosis

Hereditary Stomatocytic Disease

Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema

Dehydrated Hereditary Stomatocytosis	Hereditary Xerocytosis
Xerocytosis, Hereditary	Pshk1
Pseudohyperkalemia Edinburgh	Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema
DHS1	Dhs
Hereditary Desiccytosis	Dehydrated Hereditary Stomatocytosis 1
Desiccytosis, Hereditary	Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak
Pseudohyperkalemia Familial 1, Due To Red Cell Leak	Desiccytosis Hereditary
Xerocytosis Hereditary	Familial Pseudohyperkalemia 1 Due To Red Cell Leak
Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema	Xerocytosis

Spastic Paraplegia 27, Autosomal Recessive

SPG27	Hereditary Spastic Paraplegia 27
Autosomal Recessive Spastic Paraplegia Type 27	Autosomal Recessive Spastic Paraplegia 27
Spastic Paraplegia-27, Autosomal Recessive

Colorblindness, Partial, Protan Series

Protanopia	Red Color Blindness
Protan Defect	CBP
Red Colorblindness	Colorblindness, Protan
Color Blindness, Red

Hereditary Elliptocytosis

Congenital Elliptocytosis	Ovalocytosis
Elliptocytosis, Hereditary	He
Elliptocytosis Hereditary	Congenital Ovalocytosis
Elliptocytosis	Hereditary Elliptocytosis With Infantile Poikilocytosis
Hereditary Ovalocytosis	Oval Erythrocytosis
He - [Hereditary Elliptocytosis]	Elliptocytosis Anaemia

Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia	Spherocytic Anemia
Congenital Spherocytosis	Spherocytosis, Type 1
Minkowski Chauffard Syndrome	Hs
Minkowski-Chauffard Disease	Minkowski-Chauffard Syndrome
Spherocytosis Hereditary	Spherocytosis, Hereditary
Anemia, Hereditary Spherocytic Hemolytic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11930	RHAG Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	RHAG	VGNC	VGNC:76693
Canis familiaris	RHAG	VGNC	VGNC:45542
Rattus norvegicus	RHAG	RGD	RGD:61871
Mus musculus	RHAG	MGD	MGI:1202713
Felis catus	RHAG	VGNC	VGNC:64601
Bos taurus	RHAG	VGNC	VGNC:33929

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