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RHCE Rh blood group CcEe antigens [ Homo sapiens (human) ]

Gene ID: 6006, updated on 12-Nov-2018

Summary

Official Symbol
RHCEprovided by HGNC
Official Full Name
Rh blood group CcEe antigensprovided by HGNC
Primary source
HGNC:HGNC:10008
See related
Ensembl:ENSG00000188672 MIM:111700; Vega:OTTHUMG00000007650
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RH; RHC; RHE; Rh4; RHNA; RHPI; RhVI; RH30A; RHIXB; RhVIII; CD240CE; RhIVb(J); RHCe(152N)
Summary
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]
Expression
Biased expression in bone marrow (RPKM 11.4), prostate (RPKM 0.7) and 2 other tissues See more
Orthologs

Genomic context

See RHCE in Genome Data Viewer
Location:
1p36.11
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (25360659..25430193, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (25687853..25747363, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376882 Neighboring gene arginine and serine rich protein 1 Neighboring gene Rh blood group D antigen Neighboring gene succinate dehydrogenase complex subunit D pseudogene 6 Neighboring gene transmembrane protein 50A Neighboring gene succinate dehydrogenase complex subunit D pseudogene 7 Neighboring gene macoilin 1 Neighboring gene low density lipoprotein receptor adaptor protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

General gene information

Markers

Homology

Clone Names

  • MGC103977

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ammonium transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
ammonium transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
blood group Rh(CE) polypeptide
Names
(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
Rh blood group protein
Rh polypeptide I
RhCE blood group antigens
Rhesus blood group CE protein
Rhesus blood group CcEe antigen
Rhesus blood group E antigen
Rhesus blood group Rhce antigen
Rhesus system C and E polypeptides
blood group RhCE polypeptide
blood group RhCcEe antigen
rh polypeptide 1
rhesus C/E antigens
rhesus blood group antigen, RhC antigen
rhesus blood group little e antigen
silenced Rh blood group CcEe antigen
truncated RHCE
truncated RhCcEe antigen
truncated RhD antigen

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009208.3 RefSeqGene

    Range
    14279..72944
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001330430.2NP_001317359.1  blood group Rh(CE) polypeptide isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (5) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL031284, BC139905, HQ711847, JX420291, X54534
    Consensus CDS
    CCDS81283.1
    Related
    ENSP00000415417.2, ENST00000413854.5
  2. NM_020485.5NP_065231.3  blood group Rh(CE) polypeptide isoform 1

    See identical proteins and their annotated locations for NP_065231.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform of this protein.
    Source sequence(s)
    AL928711, BC139905, DQ322275
    Consensus CDS
    CCDS30635.1
    UniProtKB/Swiss-Prot
    P18577
    UniProtKB/TrEMBL
    A0A220QMN8
    Related
    ENSP00000294413.6, OTTHUMP00000008980, ENST00000294413.12
    Conserved Domains (1) summary
    cl03012
    Location:18377
    Ammonium_transp; Ammonium Transporter Family
  3. NM_138616.4NP_619522.3  blood group Rh(CE) polypeptide isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), also called RhVIII, lacks three internal exons but maintains the reading frame, as compared to variant 1. Isoform 3 lacks 151 internal aa as compared to isoform 1.
    Source sequence(s)
    AL928711, BC139905, DQ322275, X63096
    Consensus CDS
    CCDS30634.1
    UniProtKB/Swiss-Prot
    P18577
    Related
    ENSP00000344485.4, OTTHUMP00000235019, ENST00000346452.8
    Conserved Domains (1) summary
    cl03012
    Location:18157
    Ammonium_transp; Ammonium Transporter Family
  4. NM_138617.4NP_619523.3  blood group Rh(CE) polypeptide isoform 4

    See identical proteins and their annotated locations for NP_619523.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), also called RhVI, lacks three internal exons resulting in a frameshift and use of an upstream stop codon, as compared to variant 1. Isoform 4 lacks an internal segment of 45 aa and has a unique C-terminus as compared to isoform 1.
    Source sequence(s)
    AL928711, BC139905, X63095
    Consensus CDS
    CCDS30636.1
    UniProtKB/Swiss-Prot
    P18577
    Related
    ENSP00000345084.4, OTTHUMP00000040545, ENST00000340849.8
    Conserved Domains (1) summary
    cl03012
    Location:18241
    Ammonium_transp; Ammonium Transporter Family
  5. NM_138618.5NP_619524.5  blood group Rh(CE) polypeptide isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also called Rh4, lacks one internal exon resulting in a frameshift and use of an upstream stop codon, as compared to variant 1. Isoform 2 is 63 aa shorter than isoform 1 and has a distinct C-terminus.
    Source sequence(s)
    BC075081, BC139905, DQ322275, JX420301, X63098
    Consensus CDS
    CCDS30637.1
    Related
    ENSP00000334570.5, ENST00000349438.8
    Conserved Domains (1) summary
    cl03012
    Location:18316
    Ammonium_transp; Ammonium Transporter Family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    25360659..25430193 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541889.3XP_011540191.2  blood group Rh(CE) polypeptide isoform X1

    Conserved Domains (1) summary
    cl03012
    Location:62412
    Ammonium_transp; Ammonium Transporter Family
  2. XM_011541891.3XP_011540193.1  blood group Rh(CE) polypeptide isoform X3

    Related
    ENSP00000311185.4, OTTHUMP00000040544, ENST00000349320.7
    Conserved Domains (1) summary
    cl03012
    Location:1321
    Ammonium_transp; Ammonium Transporter Family
  3. XM_017002014.2XP_016857503.1  blood group Rh(CE) polypeptide isoform X6

  4. XM_005245957.4XP_005246014.1  blood group Rh(CE) polypeptide isoform X5

    Conserved Domains (1) summary
    cl03012
    Location:18362
    Ammonium_transp; Ammonium Transporter Family
  5. XM_011541888.3XP_011540190.1  blood group Rh(CE) polypeptide isoform X2

    Conserved Domains (1) summary
    cl03012
    Location:14337
    Ammonium_transp; Ammonium Transporter Family
  6. XM_006710810.3XP_006710873.1  blood group Rh(CE) polypeptide isoform X4

    Conserved Domains (1) summary
    cl03012
    Location:18346
    Ammonium_transp; Ammonium Transporter Family
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