• Gene id: 6006

Gene Summary

• Gene Symbol: RHCE   Gene   UCSC   Ensembl
• Aliases: CD240CE, RH, RH30A, RHC, RHCe(152N), RHE, RHIXB, RHNA, RHPI, Rh4, RhIVb(J), RhVI, RhVIII
• Gene name: Rh blood group CcEe antigens
• Alternate names: blood group Rh(CE) polypeptide, (C)ces type 1 Rhesus blood group D antigen, RHCE blood group variant Crawford antigen Rh43, Rh blood group C antigen, Rh blood group CE antigen, Rh blood group CcEe antigen, Rh blood group D antigen, Rh blood group antigen Evans, R,
• Gene location: 1p36.11 (25430192: 25360658)     Exons: 14     NC_000001.11
• Gene summary(Entrez): 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 grou
• OMIM: 118945

Protein Summary

• Protein general information: P18577  
  • Name: Blood group Rh(CE) polypeptide (Rh polypeptide 1) (RhPI) (Rh30A) (RhIXB) (Rhesus C/E antigens) (CD antigen CD240CE)
  • Length: 417  
  • Mass: 45560
  • Tissue specificity: Restricted to tissues or cell lines expressing erythroid characters. Isoform 4g and isoform RhPI-Alpha are expressed in immature erythroblasts but not in mature erythroblasts. {ECO
• Sequence:

  MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAALGLGFLTSNFRRHSWS
  SVAFNLFMLALGVQWAILLDGFLSQFPPGKVVITLFSIRLATMSAMSVLISAGAVLGKVNLAQLVVMVLVEVTAL
  GTLRMVISNIFNTDYHMNLRHFYVFAAYFGLTVAWCLPKPLPKGTEDNDQRATIPSLSAMLGALFLWMFWPSVNS
  PLLRSPIQRKNAMFNTYYALAVSVVTAISGSSLAHPQRKISMTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLV
  AGLISIGGAKCLPVCCNRVLGIHHISVMHSIFSLLGLLGEITYIVLLVLHTVWNGNGMIGFQVLLSIGELSLAIV
  IALTSGLLTGLLLNLKIWKAPHVAKYFDDQVFWKFPHLAVGF

• Structural information:
  • Interpro: IPR029020  IPR024041  IPR002229  
  • STRING: ENSP00000294413
• Other Databases: GeneCards:  RHCE  Malacards:  RHCE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008519	ammonium transmembrane transporter activity	IBA	molecular function
GO:0072488	ammonium transmembrane transport	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0008519	ammonium transmembrane transporter activity	IEA	molecular function
GO:0015696	ammonium transport	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray