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

Gene ID: 6007, updated on 14-Oct-2021

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
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; HDFNRH; 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
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Genomic context

See RHD in Genome Data Viewer
Location:
1p36.11
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (25272393..25330445)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (25598977..25656936)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene IFITM3 pseudogene 7 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

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
enables ammonium transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in ammonium transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

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 CcEe antigen
Rh blood group D antigen weak D type 160
Rh blood group antigen Evans
Rh blood group, D anitgen
RhD antigen
RhD blood group antigen
RhD polypeptide
Rhesus D blood group protein
Rhesus blood group D antigen allele DIII type 7
Rhesus blood group antigen D
Rhesus system D polypeptide
blood group antigen D
blood group protein RHD
rhesus D antigen
truncated Rh blood group D antigen
truncated RhD antigen
truncated rhesus D
truncated rhesus blood group D antigen

NCBI Reference Sequences (RefSeq)

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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
    5020..62956
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_796

mRNA and Protein(s)

  1. NM_001127691.3NP_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, ENST00000454452.6
    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, ENST00000417538.6
    Conserved Domains (1) summary
    cl03012
    Location:18316
    Ammonium_transp; Ammonium Transporter Family
  4. NM_001282869.2NP_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, ENST00000357542.8
    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, ENST00000568195.5
    Conserved Domains (1) summary
    cl03012
    Location:18384
    Ammonium_transp; Ammonium Transporter Family
  6. NM_001282871.2NP_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, ENST00000342055.9
    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, ENST00000423810.6
    Conserved Domains (1) summary
    cl03012
    Location:18356
    Ammonium_transp; Ammonium Transporter Family
  8. NM_016124.6NP_057208.3  blood group Rh(D) polypeptide isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
    Source sequence(s)
    AL928711
    Consensus CDS
    CCDS262.1
    Related
    ENSP00000331871.4, ENST00000328664.9
    Conserved Domains (1) summary
    cl03012
    Location:18377
    Ammonium_transp; Ammonium Transporter Family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 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.
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