Seroatlas · Human Serome Atlas

RHAG

Ammonium transporter Rh type A

Also known as: CD241, RH50A, RHAG_HUMAN, SLC42A1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q02094
Gene
RHAG
Ensembl
ENSG00000112077
Chromosome
6
Canonical length
409 aa
Protein class
CD markers, Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Endoplasmic reticulum
Quaternary structure
Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

409 residues, UniProt reviewed canonical sequence.

>Q02094|RHAG
     1  MRFTFPLMAI VLEIAMIVLF GLFVEYETDQ TVLEQLNITK PTDMGIFFEL YPLFQDVHVM
    61  IFVGFGFLMT FLKKYGFSSV GINLLVAALG LQWGTIVQGI LQSQGQKFNI GIKNMINADF
   121  SAATVLISFG AVLGKTSPTQ MLIMTILEIV FFAHNEYLVS EIFKASDIGA SMTIHAFGAY
   181  FGLAVAGILY RSGLRKGHEN EESAYYSDLF AMIGTLFLWM FWPSFNSAIA EPGDKQCRAI
   241  VNTYFSLAAC VLTAFAFSSL VEHRGKLNMV HIQNATLAGG VAVGTCADMA IHPFGSMIIG
   301  SIAGMVSVLG YKFLTPLFTT KLRIHDTCGV HNLHGLPGVV GGLAGIVAVA MGASNTSMAM
   361  QAAALGSSIG TAVVGGLMTG LILKLPLWGQ PSDQNCYDDS VYWKVPKTR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RHAG can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
12
Mean surface accessibility (rSASA)
0.23
Highest tissue expression
113 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 113 nTPM
  • heart muscle: 2.1 nTPM
  • placenta: 2 nTPM
  • spleen: 1.5 nTPM
  • blood vessel: 0.6 nTPM
  • seminal vesicle: 0.6 nTPM

Single-cell type

  • erythrocyte progenitors: 434 nCPM
  • erythrocytes: 73 nCPM
  • megakaryocyte-erythroid progenitors: 69 nCPM
  • platelets: 64 nCPM
  • megakaryocyte progenitors: 41 nCPM
  • lymphatic endothelial cells: 24 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • amygdala: 0 nTPM
  • basal ganglia: 0 nTPM
  • cerebellum: 0 nTPM
  • cerebral cortex: 0 nTPM
  • choroid plexus: 0 nTPM
  • hippocampal formation: 0 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RHAG.

Disease | AllUniProt

Conditions RHAG is implicated in, by any mechanism.

  • Regulator type Rh-null hemolytic anemia (RHN) MIM:268150
  • Overhydrated hereditary stomatocytosis (OHST) MIM:185000

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 179 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Rh-null, regulator type
  • Overhydrated hereditary stomatocytosis
  • Rh mod blood group phenotype
  • RHAG-related disorder
  • Rh deficiency syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.65
gnomAD pLI
0.01
gnomAD missense Z
0.77
DepMap mean gene effect
0.02
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RHAG in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RHAG as an antibody target. Whether an autoantibody or antibody against RHAG could matter depends on whether native RHAG is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RHAG is annotated at the cell surface, where native RHAG is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label RHAG as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RHAG. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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