Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    RHD Rh blood group D antigen [ Homo sapiens (human) ]

    Gene ID: 6007, updated on 19-Nov-2018

    Summary

    Official Symbol
    RHDprovided by HGNC
    Official Full Name
    Rh blood group D antigenprovided by HGNC
    Primary source
    HGNC:HGNC:10009
    See related
    Ensembl:ENSG00000187010 MIM:111680; Vega:OTTHUMG00000003476
    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; Rh4; RH30; RhII; RhPI; DIIIc; RHCED; RHDel; RHPII; RhDCw; CD240D; RHXIII; RHDVA(TT); RhK562-II
    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 the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in bone marrow (RPKM 5.0), skin (RPKM 0.4) and 2 other tissues See more
    Orthologs

    Genomic context

    See RHD in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (25272393..25330445)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (25598884..25656936)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene interferon induced transmembrane protein 3 pseudogene Neighboring gene SYF2 pre-mRNA splicing factor Neighboring gene uncharacterized LOC105376882 Neighboring gene arginine and serine rich protein 1 Neighboring gene succinate dehydrogenase complex subunit D pseudogene 6 Neighboring gene transmembrane protein 50A Neighboring gene Rh blood group CcEe antigens Neighboring gene succinate dehydrogenase complex subunit D pseudogene 7

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC165007

    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(D) polypeptide
    Names
    D antigen (DCS)
    RH polypeptide 2
    Rh blood group C antigen
    Rh blood group CE antigen
    Rh blood group CcEe antigen
    Rh blood group antigen Evans
    Rh blood group, D anitgen
    RhD antigen
    RhD blood group antigen
    RhD polypeptide
    Rhesus blood group D antigen allele DIII type 7
    Rhesus system D polypeptide
    blood group antigen D
    blood group protein RHD
    rhesus D antigen
    truncated Rh blood group D antigen
    truncated RhD
    truncated rhesus D
    truncated rhesus blood group D 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_007494.1 RefSeqGene

      Range
      4997..62956
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127691.2NP_001121163.1  blood group Rh(D) polypeptide isoform 2

      See identical proteins and their annotated locations for NP_001121163.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as del789, lacks three alternate coding exons compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK297151, AL928711, AY751491
      Consensus CDS
      CCDS53285.1
      UniProtKB/Swiss-Prot
      Q02161
      UniProtKB/TrEMBL
      B4DLT8, Q5XLT3
      Related
      ENSP00000413849.2, OTTHUMP00000249481, ENST00000454452.6, OTTHUMT00000420797
      Conserved Domains (1) summary
      cl03012
      Location:18312
      Ammonium_transp; Ammonium Transporter Family
    2. NM_001282867.1NP_001269796.1  blood group Rh(D) polypeptide isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction at the 5' end of an exon compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (3) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AF037626, AK297151, AL928711
      UniProtKB/TrEMBL
      B4DLT8, Q9UPC8
      Conserved Domains (1) summary
      cl03012
      Location:6211
      Ammonium_transp; Ammonium Transporter Family
    3. NM_001282868.1NP_001269797.1  blood group Rh(D) polypeptide isoform 4

      See identical proteins and their annotated locations for NP_001269797.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons compared to variant 1, that causes a frameshift. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK297151, AL928711, AY751492
      Consensus CDS
      CCDS60031.1
      UniProtKB/Swiss-Prot
      Q02161
      UniProtKB/TrEMBL
      B4DLT8
      Related
      ENSP00000396420.2, OTTHUMP00000249482, ENST00000417538.6, OTTHUMT00000420798
      Conserved Domains (1) summary
      cl03012
      Location:18316
      Ammonium_transp; Ammonium Transporter Family
    4. NM_001282869.1NP_001269798.1  blood group Rh(D) polypeptide isoform 5

      See identical proteins and their annotated locations for NP_001269798.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two alternate exons compared to variant 1, that causes a frameshift. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK297151, AL928711, AY751493
      Consensus CDS
      CCDS60030.1
      UniProtKB/Swiss-Prot
      Q02161
      UniProtKB/TrEMBL
      B4DLT8
      Related
      ENSP00000350150.4, OTTHUMP00000249483, ENST00000357542.8, OTTHUMT00000420799
      Conserved Domains (1) summary
      cl03012
      Location:18356
      Ammonium_transp; Ammonium Transporter Family
    5. NM_001282870.1NP_001269799.1  blood group Rh(D) polypeptide isoform 6

      See identical proteins and their annotated locations for NP_001269799.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (6) has a longer and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK297151, AL928711, AY751494
      Consensus CDS
      CCDS60029.1
      UniProtKB/TrEMBL
      B4DLT8, Q5XLT0
      Related
      ENSP00000456966.1, OTTHUMP00000249484, ENST00000568195.5, OTTHUMT00000420800
      Conserved Domains (1) summary
      cl03012
      Location:18384
      Ammonium_transp; Ammonium Transporter Family
    6. NM_001282871.1NP_001269800.1  blood group Rh(D) polypeptide isoform 7

      See identical proteins and their annotated locations for NP_001269800.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains an alternate exon and lacks two alternate exons compared to variant 1, that causes a frameshift. The resulting isoform (7) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK297151, AL928711, AY751495
      Consensus CDS
      CCDS60028.1
      UniProtKB/Swiss-Prot
      Q02161
      UniProtKB/TrEMBL
      B4DLT8
      Related
      ENSP00000339577.5, OTTHUMP00000249485, ENST00000342055.9, OTTHUMT00000420801
      Conserved Domains (1) summary
      cl03012
      Location:18356
      Ammonium_transp; Ammonium Transporter Family
    7. NM_001282872.1NP_001269801.1  blood group Rh(D) polypeptide isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) contains an alternate exon and lacks another alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (8) has a longer and distinct C-terminus compared to isoform 1. Isoform 8 represents the longest isoform of this gene.
      Source sequence(s)
      AK297151, AL928711, AY751496
      Consensus CDS
      CCDS60027.1
      UniProtKB/TrEMBL
      B4DLT8, E7EVW1, Q5XLS8
      Related
      ENSP00000399640.2, OTTHUMP00000249486, ENST00000423810.6, OTTHUMT00000420802
      Conserved Domains (1) summary
      cl03012
      Location:18356
      Ammonium_transp; Ammonium Transporter Family
    8. NM_016124.4NP_057208.2  blood group Rh(D) polypeptide isoform 1

      See identical proteins and their annotated locations for NP_057208.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
      Source sequence(s)
      AK297151, AL928711, DQ451878, JQ424879
      Consensus CDS
      CCDS262.1
      UniProtKB/Swiss-Prot
      Q02161
      UniProtKB/TrEMBL
      B4DLT8, Q1KT12, Q7RU08
      Related
      ENSP00000331871.4, OTTHUMP00000003536, ENST00000328664.8, OTTHUMT00000009660
      Conserved Domains (1) summary
      cl03012
      Location:18377
      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
      25272393..25330445
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002015.1XP_016857504.1  blood group Rh(D) polypeptide isoform X1

    RNA

    1. XR_946737.2 RNA Sequence

      Related
      ENST00000648012.1
    2. XR_946736.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_016225.3: Suppressed sequence

      Description
      NM_016225.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Support Center