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

    Gene ID: 6006, updated on 12-Jan-2019

    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
    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 Apr 4 07:08:55 2018

    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
    blood group protein RHCE
    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, 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, 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, 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

    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, 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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