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Protein

Ammonium transporter Rh type A

Gene

RHAG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).6 Publications

GO - Molecular functioni

  • ammonium transmembrane transporter activity Source: UniProtKB
  • ankyrin binding Source: UniProtKB
  • carbon dioxide transmembrane transporter activity Source: Reactome
  • leak channel activity Source: UniProtKB

GO - Biological processi

  • ammonium transmembrane transport Source: UniProtKB
  • ammonium transport Source: UniProtKB
  • bicarbonate transport Source: Reactome
  • carbon dioxide transport Source: UniProtKB
  • cellular ion homeostasis Source: UniProtKB
  • erythrocyte development Source: Ensembl
  • monovalent inorganic cation transport Source: UniProtKB
  • multicellular organismal iron ion homeostasis Source: Ensembl
  • organic cation transport Source: GO_Central

Keywordsi

Biological processAmmonia transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-1237044 Erythrocytes take up carbon dioxide and release oxygen
R-HSA-1247673 Erythrocytes take up oxygen and release carbon dioxide
R-HSA-444411 Rhesus glycoproteins mediate ammonium transport
R-HSA-5619042 Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)

Protein family/group databases

TCDBi1.A.11.4.3 the ammonium transporter channel (amt) family

Names & Taxonomyi

Protein namesi
Recommended name:
Ammonium transporter Rh type A
Alternative name(s):
Erythrocyte membrane glycoprotein Rh50
Erythrocyte plasma membrane 50 kDa glycoprotein
Short name:
Rh50A
Rhesus blood group family type A glycoprotein
Short name:
Rh family type A glycoprotein
Short name:
Rh type A glycoprotein
Rhesus blood group-associated ammonia channel
Rhesus blood group-associated glycoprotein
CD_antigen: CD241
Gene namesi
Name:RHAG
Synonyms:RH50
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112077.15
HGNCiHGNC:10006 RHAG
MIMi180297 gene
neXtProtiNX_Q02094

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 2CytoplasmicSequence analysis2
Transmembranei3 – 23HelicalSequence analysisAdd BLAST21
Topological domaini24 – 51ExtracellularSequence analysisAdd BLAST28
Transmembranei52 – 72HelicalSequence analysisAdd BLAST21
Topological domaini73 – 79CytoplasmicSequence analysis7
Transmembranei80 – 100HelicalSequence analysisAdd BLAST21
Topological domaini101 – 113ExtracellularSequence analysisAdd BLAST13
Transmembranei114 – 134HelicalSequence analysisAdd BLAST21
Topological domaini135 – 142CytoplasmicSequence analysis8
Transmembranei143 – 163HelicalSequence analysisAdd BLAST21
Topological domaini164 – 167ExtracellularSequence analysis4
Transmembranei168 – 188HelicalSequence analysisAdd BLAST21
Topological domaini189 – 208CytoplasmicSequence analysisAdd BLAST20
Transmembranei209 – 229HelicalSequence analysisAdd BLAST21
Topological domaini230 – 239ExtracellularSequence analysis10
Transmembranei240 – 260HelicalSequence analysisAdd BLAST21
Topological domaini261 – 268CytoplasmicSequence analysis8
Transmembranei269 – 291HelicalSequence analysisAdd BLAST23
Topological domaini292 – 295ExtracellularSequence analysis4
Transmembranei296 – 318HelicalSequence analysisAdd BLAST23
Topological domaini319 – 332CytoplasmicSequence analysisAdd BLAST14
Transmembranei333 – 353HelicalSequence analysisAdd BLAST21
Topological domaini354 – 362ExtracellularSequence analysis9
Transmembranei363 – 383HelicalSequence analysisAdd BLAST21
Topological domaini384 – 409CytoplasmicSequence analysisAdd BLAST26

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Regulator type Rh-null hemolytic anemia (RHN)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionForm 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.
See also OMIM:268150
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00692179S → N in RHN. 1 PublicationCorresponds to variant dbSNP:rs121918586Ensembl.1
Natural variantiVAR_015856279G → E in RHN. 2 PublicationsCorresponds to variant dbSNP:rs121918587Ensembl.1
Natural variantiVAR_015857280G → R in RHN. 1 PublicationCorresponds to variant dbSNP:rs104893987Ensembl.1
Natural variantiVAR_015858380G → V in RHN. 1 PublicationCorresponds to variant dbSNP:rs121918589Ensembl.1
Overhydrated hereditary stomatocytosis (OHST)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder of red cell membrane permeability to monovalent cations, characterized by macrocytic hemolytic anemia of fluctuating severity, circulating erythrocytes with slit-like lucencies (stomata) evident on fixed, stained peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell sodium content with reduced potassium content. The disease is marked by splenomegaly or hepatosplenomegaly, cholelithiasis and a strong tendency for iron overload.
See also OMIM:185000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07628361I → R in OHST; strongly enhances monovalent cation leak. 1 PublicationCorresponds to variant dbSNP:rs863225469Ensembl.1
Natural variantiVAR_07628465F → S in OHST; enhances monovalent cation leak; decreases ammonium fluxes; highly decreases STOM expression; decreases membrane expression; no effect on water permeability. 3 PublicationsCorresponds to variant dbSNP:rs863225468Ensembl.1

Keywords - Diseasei

Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

DisGeNETi6005
MalaCardsiRHAG
MIMi185000 phenotype
268150 phenotype
OpenTargetsiENSG00000112077
Orphaneti3203 Overhydrated hereditary stomatocytosis
71275 Rh deficiency syndrome
PharmGKBiPA34381

Polymorphism and mutation databases

BioMutaiRHAG
DMDMi218511807

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001681991 – 409Ammonium transporter Rh type AAdd BLAST409

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi37N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi355N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

Glycosylated.2 Publications

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ02094
PeptideAtlasiQ02094
PRIDEiQ02094

PTM databases

iPTMnetiQ02094
PhosphoSitePlusiQ02094

Expressioni

Tissue specificityi

Erythrocytes.3 Publications

Gene expression databases

BgeeiENSG00000112077
CleanExiHS_RHAG
ExpressionAtlasiQ02094 baseline and differential
GenevisibleiQ02094 HS

Organism-specific databases

HPAiHPA055331

Interactioni

Subunit structurei

Heterotetramer.

GO - Molecular functioni

  • ankyrin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi111937, 2 interactors
IntActiQ02094, 1 interactor
STRINGi9606.ENSP00000360217

Structurei

3D structure databases

ProteinModelPortaliQ02094
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3796 Eukaryota
ENOG410XTF8 LUCA
GeneTreeiENSGT00390000005787
HOGENOMiHOG000007656
HOVERGENiHBG004374
InParanoidiQ02094
KOiK06580
OMAiGTCADMA
PhylomeDBiQ02094
TreeFamiTF314450

Family and domain databases

Gene3Di1.10.3430.10, 1 hit
InterProiView protein in InterPro
IPR029020 Ammonium/urea_transptr
IPR024041 NH4_transpt_AmtB-like_dom
IPR002229 RhesusRHD
PfamiView protein in Pfam
PF00909 Ammonium_transp, 1 hit
PRINTSiPR00342 RHESUSRHD

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q02094-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRFTFPLMAI VLEIAMIVLF GLFVEYETDQ TVLEQLNITK PTDMGIFFEL
60 70 80 90 100
YPLFQDVHVM IFVGFGFLMT FLKKYGFSSV GINLLVAALG LQWGTIVQGI
110 120 130 140 150
LQSQGQKFNI GIKNMINADF SAATVLISFG AVLGKTSPTQ MLIMTILEIV
160 170 180 190 200
FFAHNEYLVS EIFKASDIGA SMTIHAFGAY FGLAVAGILY RSGLRKGHEN
210 220 230 240 250
EESAYYSDLF AMIGTLFLWM FWPSFNSAIA EPGDKQCRAI VNTYFSLAAC
260 270 280 290 300
VLTAFAFSSL VEHRGKLNMV HIQNATLAGG VAVGTCADMA IHPFGSMIIG
310 320 330 340 350
SIAGMVSVLG YKFLTPLFTT KLRIHDTCGV HNLHGLPGVV GGLAGIVAVA
360 370 380 390 400
MGASNTSMAM QAAALGSSIG TAVVGGLMTG LILKLPLWGQ PSDQNCYDDS

VYWKVPKTR
Length:409
Mass (Da):44,198
Last modified:December 16, 2008 - v2
Checksum:iF6F024399CC0C88D
GO
Isoform 2 (identifier: Q02094-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     316-351: PLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVAM → VYGHAGSCTGFLYRNSSCWRSDDRFNSKVASLGTAI
     352-409: Missing.

Show »
Length:351
Mass (Da):38,420
Checksum:i1BEF505C51B6F060
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti2R → C AA sequence (PubMed:3146980).Curated1
Sequence conflicti37N → P AA sequence (PubMed:3146980).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07628361I → R in OHST; strongly enhances monovalent cation leak. 1 PublicationCorresponds to variant dbSNP:rs863225469Ensembl.1
Natural variantiVAR_07628465F → S in OHST; enhances monovalent cation leak; decreases ammonium fluxes; highly decreases STOM expression; decreases membrane expression; no effect on water permeability. 3 PublicationsCorresponds to variant dbSNP:rs863225468Ensembl.1
Natural variantiVAR_00692179S → N in RHN. 1 PublicationCorresponds to variant dbSNP:rs121918586Ensembl.1
Natural variantiVAR_076285106Q → E Polymorphism; in Duclos or RHAG1 antigen (030001). 1 Publication1
Natural variantiVAR_076286164K → Q Polymorphism; in DSLK or RHAG3 antigen (030003). 1 PublicationCorresponds to variant dbSNP:rs144305805Ensembl.1
Natural variantiVAR_076287227S → L Polymorphism; in Ol(a) or RHAG2 antigen (030002). 1 PublicationCorresponds to variant dbSNP:rs902283342Ensembl.1
Natural variantiVAR_047999242N → D1 PublicationCorresponds to variant dbSNP:rs1058063Ensembl.1
Natural variantiVAR_015855270V → I3 PublicationsCorresponds to variant dbSNP:rs16879498Ensembl.1
Natural variantiVAR_015856279G → E in RHN. 2 PublicationsCorresponds to variant dbSNP:rs121918587Ensembl.1
Natural variantiVAR_015857280G → R in RHN. 1 PublicationCorresponds to variant dbSNP:rs104893987Ensembl.1
Natural variantiVAR_015858380G → V in RHN. 1 PublicationCorresponds to variant dbSNP:rs121918589Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_047629316 – 351PLFTT…VAVAM → VYGHAGSCTGFLYRNSSCWR SDDRFNSKVASLGTAI in isoform 2. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_047630352 – 409Missing in isoform 2. 1 PublicationAdd BLAST58

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X64594 mRNA Translation: CAA45883.1
AF031548 mRNA Translation: AAC04247.1
AF031549 mRNA Translation: AAC04248.1
AF237387
, AF237382, AF237383, AF237384, AF237385, AF237386 Genomic DNA Translation: AAF78209.1
AK313505 mRNA Translation: BAG36285.1
AL121950, AL590244 Genomic DNA Translation: CAC10519.2
AL590244, AL121950 Genomic DNA Translation: CAI13085.1
CH471081 Genomic DNA Translation: EAX04337.1
CH471081 Genomic DNA Translation: EAX04338.1
CCDSiCCDS4927.1 [Q02094-1]
PIRiS29124
RefSeqiNP_000315.2, NM_000324.2 [Q02094-1]
UniGeneiHs.120950

Genome annotation databases

EnsembliENST00000371175; ENSP00000360217; ENSG00000112077 [Q02094-1]
GeneIDi6005
KEGGihsa:6005
UCSCiuc003ozk.5 human [Q02094-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiRHAG_HUMAN
AccessioniPrimary (citable) accession number: Q02094
Secondary accession number(s): B2R8T8
, O43514, O43515, Q7L8L3, Q9H454
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: December 16, 2008
Last modified: April 25, 2018
This is version 157 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health