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Protein

Ammonium transporter Rh type A

Gene

RHAG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • nitrogen utilization Source: GO_Central
  • organic cation transport Source: GO_Central
Complete GO annotation...

Keywords - Biological processi

Ammonia transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112077-MONOMER.
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.

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

HGNCiHGNC:10006. RHAG.

Subcellular locationi

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

GO - Cellular componenti

  • integral component of plasma membrane Source: ProtInc
  • membrane Source: UniProtKB
  • plasma membrane Source: UniProtKB
Complete GO annotation...

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 rs121918586dbSNPEnsembl.1
Natural variantiVAR_015855270V → I in RHN. 2 PublicationsCorresponds to variant rs16879498dbSNPEnsembl.1
Natural variantiVAR_015856279G → E in RHN. 2 PublicationsCorresponds to variant rs28933991dbSNPEnsembl.1
Natural variantiVAR_015857280G → R in RHN. 1 PublicationCorresponds to variant rs104893987dbSNPEnsembl.1
Natural variantiVAR_015858380G → V in RHN. 1 PublicationCorresponds to variant rs121918589dbSNPEnsembl.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 Publication1
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 Publications1

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...)Sequence analysis1
Glycosylationi355N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

Glycoylated.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. 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.
OMAiVTAYACS.
PhylomeDBiQ02094.
TreeFamiTF314450.

Family and domain databases

Gene3Di1.10.3430.10. 1 hit.
InterProiIPR029020. Ammonium/urea_transptr.
IPR001905. Ammonium_transpt.
IPR024041. NH4_transpt_AmtB-like_dom.
IPR002229. RhesusRHD.
[Graphical view]
PANTHERiPTHR11730. PTHR11730. 1 hit.
PfamiPF00909. Ammonium_transp. 1 hit.
[Graphical view]
PRINTSiPR00342. RHESUSRHD.
SUPFAMiSSF111352. SSF111352. 1 hit.

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 Publication1
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 Publications1
Natural variantiVAR_00692179S → N in RHN. 1 PublicationCorresponds to variant rs121918586dbSNPEnsembl.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 rs144305805dbSNPEnsembl.1
Natural variantiVAR_076287227S → L Polymorphism; in Ol(a) or RHAG2 antigen (030002). 1 Publication1
Natural variantiVAR_047999242N → D.1 PublicationCorresponds to variant rs1058063dbSNPEnsembl.1
Natural variantiVAR_015855270V → I in RHN. 2 PublicationsCorresponds to variant rs16879498dbSNPEnsembl.1
Natural variantiVAR_015856279G → E in RHN. 2 PublicationsCorresponds to variant rs28933991dbSNPEnsembl.1
Natural variantiVAR_015857280G → R in RHN. 1 PublicationCorresponds to variant rs104893987dbSNPEnsembl.1
Natural variantiVAR_015858380G → V in RHN. 1 PublicationCorresponds to variant rs121918589dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ02094.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111937. 1 interactor.
STRINGi9606.ENSP00000360217.

Protein family/group databases

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

PTM databases

iPTMnetiQ02094.
PhosphoSitePlusiQ02094.

Polymorphism and mutation databases

BioMutaiRHAG.
DMDMi218511807.

Proteomic databases

PaxDbiQ02094.
PeptideAtlasiQ02094.
PRIDEiQ02094.

Protocols and materials databases

DNASUi6005.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi6005.
DisGeNETi6005.
GeneCardsiRHAG.
H-InvDBHIX0005947.
HGNCiHGNC:10006. RHAG.
HPAiHPA055331.
MalaCardsiRHAG.
MIMi180297. gene.
185000. phenotype.
268150. phenotype.
neXtProtiNX_Q02094.
OpenTargetsiENSG00000112077.
Orphaneti3203. Overhydrated hereditary stomatocytosis.
71275. Rh deficiency syndrome.
PharmGKBiPA34381.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3796. Eukaryota.
ENOG410XTF8. LUCA.
GeneTreeiENSGT00390000005787.
HOGENOMiHOG000007656.
HOVERGENiHBG004374.
InParanoidiQ02094.
KOiK06580.
OMAiVTAYACS.
PhylomeDBiQ02094.
TreeFamiTF314450.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112077-MONOMER.
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.

Miscellaneous databases

ChiTaRSiRHAG. human.
GeneWikiiRHAG.
GenomeRNAii6005.
PROiQ02094.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112077.
CleanExiHS_RHAG.
ExpressionAtlasiQ02094. baseline and differential.
GenevisibleiQ02094. HS.

Family and domain databases

Gene3Di1.10.3430.10. 1 hit.
InterProiIPR029020. Ammonium/urea_transptr.
IPR001905. Ammonium_transpt.
IPR024041. NH4_transpt_AmtB-like_dom.
IPR002229. RhesusRHD.
[Graphical view]
PANTHERiPTHR11730. PTHR11730. 1 hit.
PfamiPF00909. Ammonium_transp. 1 hit.
[Graphical view]
PRINTSiPR00342. RHESUSRHD.
SUPFAMiSSF111352. SSF111352. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiRHAG_HUMAN
AccessioniPrimary (citable) accession number: Q02094
Secondary accession number(s): B2R8T8
, O43514, O43515, Q7L8L3, Q9H454
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: December 16, 2008
Last modified: November 30, 2016
This is version 145 of the entry and version 2 of the sequence. [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

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.