RHCE

Protein identityUniProt · HPA

UniProt accession

P18577

Gene

RHCE

Ensembl

ENSG00000188672

Chromosome

1

Canonical length

417 aa

Protein class

Blood group antigen proteins, CD markers, Disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Nucleoplasm,Plasma membrane

Quaternary structure

Homodimer

OverviewNCBI Gene

The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Aug 2016]

Canonical amino-acid sequenceUniProt

417 residues, UniProt reviewed canonical sequence.

>P18577|RHCE
     1  MSSKYPRSVR RCLPLCALTL EAALILLFYF FTHYDASLED QKGLVASYQV GQDLTVMAAL
    61  GLGFLTSNFR RHSWSSVAFN LFMLALGVQW AILLDGFLSQ FPPGKVVITL FSIRLATMSA
   121  MSVLISAGAV LGKVNLAQLV VMVLVEVTAL GTLRMVISNI FNTDYHMNLR HFYVFAAYFG
   181  LTVAWCLPKP LPKGTEDNDQ RATIPSLSAM LGALFLWMFW PSVNSALLRS PIQRKNAMFN
   241  TYYALAVSVV TAISGSSLAH PQRKISMTYV HSAVLAGGVA VGTSCHLIPS PWLAMVLGLV
   301  AGLISIGGAK CLPVCCNRVL GIHHISVMHS IFSLLGLLGE ITYIVLLVLH TVWNGNGMIG
   361  FQVLLSIGEL SLAIVIALTS GLLTGLLLNL KIWKAPHVAK YFDDQVFWKF PHLAVGF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RHCE 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

11

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

46 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RHCE.

Disease | AllUniProt

Conditions RHCE is implicated in, by any mechanism.

• Rh-null, amorph type (RHNA) MIM:617970

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 76 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• RH-NULL, AMORPH TYPE

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)

0.77

gnomAD pLI

0

gnomAD missense Z

0.4

DepMap mean gene effect

0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• ammonium homeostasis
• ammonium transmembrane transport

Molecular functions

• ammonium channel activity

Cellular components

• ankyrin-1 complex
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Blood group Rhesus C/E/D polypeptide
• Ammonium transporter AmtB-like domain
• Ammonium/urea transporter
• Ammonium Transporter Family

KeywordsUniProt

• Blood group antigen
• Membrane
• Transmembrane
• Transmembrane helix