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RHAG Rh associated glycoprotein [ Homo sapiens (human) ]

Gene ID: 6005, updated on 4-Jan-2025

Summary

Official Symbol
RHAGprovided by HGNC
Official Full Name
Rh associated glycoproteinprovided by HGNC
Primary source
HGNC:HGNC:10006
See related
Ensembl:ENSG00000112077 MIM:180297; AllianceGenome:HGNC:10006
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
OHS; RH2; OHST; RHNR; Rh50; CD241; RH50A; Rh50GP; SLC42A1
Summary
The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009]
Expression
Restricted expression toward bone marrow (RPKM 40.5) See more
Orthologs
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Genomic context

See RHAG in Genome Data Viewer
Location:
6p12.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (49605175..49636839, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (49447195..49478851, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (49572888..49604552, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24664 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:49519182-49519701 Neighboring gene chromosome 6 open reading frame 141 Neighboring gene Sharpr-MPRA regulatory region 6456 Neighboring gene cytochrome P450 family 2 subfamily AC member 1, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr6:49553494-49553995 Neighboring gene MPRA-validated peak5837 silencer Neighboring gene GATA motif-containing MPRA enhancer 217 Neighboring gene Sharpr-MPRA regulatory region 4614 Neighboring gene cysteine rich secretory protein 2 Neighboring gene MPRA-validated peak5838 silencer Neighboring gene MPRA-validated peak5839 silencer Neighboring gene cysteine rich secretory protein 3

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Overhydrated hereditary stomatocytosis
MedGen: C1861455 OMIM: 185000 GeneReviews: Not available
Compare labs
Rh-null, regulator type
MedGen: C1849387 OMIM: 268150 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of ankyrin-1 complex PubMed 
located_in membrane PubMed 
is_active_in plasma membrane  
located_in plasma membrane PubMed 
located_in plasma membrane  

General protein information

Preferred Names
ammonium transporter Rh type A
Names
Rh 50 glycoprotein
Rhesus associated polypeptide, 50-KD
Rhesus blood group-associated glycoprotein
erythrocyte membrane glycoprotein Rh50
erythrocyte plasma membrane 50 kDa glycoprotein
mutant Rh associated glycoprotein
rh family type A glycoprotein
rh type A glycoprotein
rhesus blood group family type A glycoprotein
rhesus blood group-associated ammonia channel

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_011704.1 RefSeqGene

    Range
    5001..36700
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_822

mRNA and Protein(s)

  1. NM_000324.3NP_000315.2  ammonium transporter Rh type A

    See identical proteins and their annotated locations for NP_000315.2

    Status: REVIEWED

    Source sequence(s)
    BC012605, X64594
    Consensus CDS
    CCDS4927.1
    UniProtKB/Swiss-Prot
    B2R8T8, O43514, O43515, Q02094, Q7L8L3, Q9H454
    UniProtKB/TrEMBL
    A0A1Q1NHH4, A0A6S6PEI8, A0A7S8RFX7, A0A7S8RGC4, M5FJR4, Q9UK70
    Related
    ENSP00000360217.4, ENST00000371175.10
    Conserved Domains (1) summary
    pfam00909
    Location:15402
    Ammonium_transp; Ammonium Transporter Family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    49605175..49636839 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514788.2XP_011513090.1  ammonium transporter Rh type A isoform X1

    UniProtKB/TrEMBL
    A0A0A1TSG9
    Conserved Domains (1) summary
    cl03012
    Location:15213
    Ammonium_transp; Ammonium Transporter Family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    49447195..49478851 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356161.1XP_054212136.1  ammonium transporter Rh type A isoform X1

    UniProtKB/TrEMBL
    A0A0A1TSG9
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