RHAG

Last updated
RHAG
Identifiers
Aliases RHAG , CD241, RH2, RH50A, Rh50, Rh50GP, SLC42A1, OHS, OHST, Rh-associated glycoprotein, Rh associated glycoprotein, RHNR
External IDs OMIM: 180297 MGI: 1202713 HomoloGene: 68045 GeneCards: RHAG
Gene location (Human)
Ideogram human chromosome 6.svg
Chr. Chromosome 6 (human) [1]
Human chromosome 6 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 6p12.3Start49,605,175 bp [1]
End49,636,839 bp [1]
RNA expression pattern
PBB GE RHAG 206146 s at fs.png

PBB GE RHAG 211254 x at fs.png

PBB GE RHAG 206145 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000324

NM_011269

RefSeq (protein)

NP_000315

NP_035399

Location (UCSC) Chr 6: 49.61 – 49.64 Mb Chr 17: 40.81 – 40.84 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Rh-associated glycoprotein (RHAG) is an ammonia transporter protein that in humans is encoded by the RHAG gene. [5] [6] RHAG has also recently been designated CD241 (cluster of differentiation 241). Mutations in the RHAG gene can cause stomatocytosis. [7]

Contents

Function

The Rh blood group antigens (MIM 111700) are associated with human erythrocyte membrane proteins of approximately 30 kD, the so-called Rh30 polypeptides. Heterogeneously glycosylated membrane proteins of 50 and 45 kD, the Rh50 glycoproteins, are coprecipitated with the Rh30 polypeptides on immunoprecipitation with anti-Rh-specific mono- and polyclonal antibodies. The Rh antigens appear to exist as a multisubunit complex of CD47 (MIM 601028), LW (MIM 111250), glycophorin B (MIM 111740), and play a critical role in the Rh50 glycoprotein [supplied by OMIM]. [6]

Interactions

RHAG has been shown to interact with ANK1. [8]

See also

Related Research Articles

Glycophorin C plays a functionally important role in maintaining erythrocyte shape and regulating membrane material properties, possibly through its interaction with protein 4.1. Moreover, it has previously been shown that membranes deficient in protein 4.1 exhibit decreased content of glycophorin C. It is also an integral membrane protein of the erythrocyte and acts as the receptor for the Plasmodium falciparum protein PfEBP-2.

Duffy antigen system Human blood group classification

Duffy antigen/chemokine receptor (DARC), also known as Fy glycoprotein (FY) or CD234, is a protein that in humans is encoded by the ACKR1 gene.

The Rh blood group system is a human blood group system. It contains proteins on the surface of red blood cells. It is the second most important blood group system, after the ABO blood group system. The Rh blood group system consists of 49 defined blood group antigens, among which the five antigens D, C, c, E, and e are the most important. There is no d antigen. Rh(D) status of an individual is normally described with a positive or negative suffix after the ABO type. The terms Rh factor, Rh positive, and Rh negative refer to the Rh(D) antigen only. Antibodies to Rh antigens can be involved in hemolytic transfusion reactions and antibodies to the Rh(D) and Rh antigens confer significant risk of hemolytic disease of the fetus and newborn.

Aquaporin 1

Aquaporin 1 is a protein that in humans is encoded by the AQP1 gene.

EPB41

Protein 4.1, also known as Beatty's Protein, is a protein associated with the cytoskeleton that in humans is encoded by the EPB41 gene. Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Protein 4.1 interacts with spectrin and short actin filaments to form the erythrocyte membrane skeleton. Mutations of spectrin and protein 4.1 are associated with elliptocytosis or spherocytosis and anemia of varying severity.

Platelet membrane glycoproteins are surface glycoproteins found on platelets (thrombocytes) which play a key role in hemostasis. When the blood vessel wall is damaged, platelet membrane glycoproteins interact with the extracellular matrix.

GP1BA

Platelet glycoprotein Ib alpha chain also known as glycoprotein Ib (platelet), alpha polypeptide or CD42b, is a protein that in humans is encoded by the GP1BA gene.

<i>RHCE</i> (gene)

Blood group Rh(CE) polypeptide is a protein that in humans is encoded by the RHCE gene. RHCE has also recently been designated CD240CE.

Glycophorin A

Glycophorin A , also known as GYPA, is a protein which in humans is encoded by the GYPA gene. GYPA has also recently been designated CD235a.

GP1BB

Glycoprotein Ib (platelet), beta polypeptide (GP1BB) also known as CD42c, is a protein that in humans is encoded by the GP1BB gene.

Glycoprotein IX

Glycoprotein IX (platelet) (GP9) also known as CD42a, is a human gene.

GYPB

Glycophorin B also known as sialoglycoprotein delta and SS-active sialoglycoprotein is a protein which in humans is encoded by the GYPB gene. GYPB has also recently been designated CD235b.

Basal cell adhesion molecule

Basal cell adhesion molecule, also known as Lutheran antigen, is a plasma membrane glycoprotein that in humans is encoded by the BCAM gene. BCAM has also recently been designated CD239.

GP5 (gene)

Glycoprotein V (platelet) (GP5) also known as CD42d, is a human gene.

Urea transporter 1

Urea transporter 1 is a protein that in humans is encoded by the SLC14A1 gene.

RHCG

Rh family, C glycoprotein, also known as RHCG, is a protein that in humans is encoded by the RHCG gene.

GYPE

Glycophorin-E is a protein that in humans is encoded by the GYPE gene.

ANK1

Ankyrin 1, erythrocytic, also known as ANK1, is a protein that in humans is encoded by the ANK1 gene.

Rh deficiency syndrome is a type of hemolytic anemia that involves erythrocytes whom membranes are deficient in Rh antigens. It is considered a rare condition.

RHD (gene)

Rh blood group, D antigen also known as Rh polypeptide 1 (RhPI) or cluster of differentiation 240D (CD240D) is a protein that in humans is encoded by the RHD gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000112077 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000023926 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Matassi G, Chérif-Zahar B, Raynal V, Rouger P, Cartron JP (Jan 1998). "Organization of the human RH50A gene (RHAG) and evolution of base composition of the RH gene family". Genomics. 47 (2): 286–93. doi:10.1006/geno.1997.5112. PMID   9479501.
  6. 1 2 "Entrez Gene: RHAG Rh-associated glycoprotein".
  7. Stewart AK, Shmukler BE, Vandorpe DH, Rivera A, Heneghan JF, Li X, Hsu A, Karpatkin M, O'Neill AF, Bauer DE, Heeney MM, John K, Kuypers FA, Gallagher PG, Lux SE, Brugnara C, Westhoff CM, Alper SL (Dec 2011). "Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S". American Journal of Physiology. Cell Physiology. 301 (6): C1325-43. doi:10.1152/ajpcell.00054.2011. PMC   3233792 . PMID   21849667.
  8. Nicolas V, Le Van Kim C, Gane P, Birkenmeier C, Cartron JP, Colin Y, Mouro-Chanteloup I (Jul 2003). "Rh-RhAG/ankyrin-R, a new interaction site between the membrane bilayer and the red cell skeleton, is impaired by Rh(null)-associated mutation". The Journal of Biological Chemistry. 278 (28): 25526–33. doi: 10.1074/jbc.M302816200 . PMID   12719424.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Further reading