Movatterモバイル変換

[0]ホーム
URL:

Jump to content
WikipediaThe Free Encyclopedia
Search

RHAG

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
RHAG
Identifiers
AliasesRHAG, CD241, RH2, RH50A, Rh50, Rh50GP, SLC42A1, OHS, OHST, Rh-associated glycoprotein, Rh associated glycoprotein, RHNR
External IDsOMIM:180297;MGI:1202713;HomoloGene:68045;GeneCards:RHAG;OMA:RHAG - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for RHAG
Genomic location for RHAG
Band6p12.3Start49,605,175bp[1]
End49,636,839bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for RHAG
Genomic location for RHAG
Band17 B2|17 19.54 cMStart41,122,017bp[2]
End41,151,645bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • trabecular bone

  • bone marrow

  • bone marrow cells

  • testicle

  • blood

  • right auricle

  • monocyte

  • amniotic fluid

  • ventricle of the heart

  • cervix
Top expressed in
  • fetal liver hematopoietic progenitor cell

  • tibiofemoral joint

  • human fetus

  • body of femur

  • spleen

  • bone marrow

  • blood

  • tail of embryo

  • yolk sac

  • genital tubercle
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6005

19743

Ensembl

ENSG00000112077

ENSMUSG00000023926

UniProt

Q02094

Q9QUT0

RefSeq (mRNA)

NM_000324

NM_011269

RefSeq (protein)

NP_000315

NP_035399

Location (UCSC)Chr 6: 49.61 – 49.64 MbChr 17: 41.12 – 41.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Rh-associated glycoprotein (RHAG) is anammonia transporterprotein that in humans is encoded by theRHAGgene.[5][6] RHAG has also recently been designatedCD241 (cluster of differentiation 241). Mutations in the RHAG gene can causestomatocytosis.[7]

Function

[edit]

TheRh 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

[edit]

RHAG has been shown tointeract withANK1.[8]

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000112077 –Ensembl, May 2017
  2. ^abcGRCm38: 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. ^ab"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 theUnited States National Library of Medicine, which is in thepublic domain.


Further reading

[edit]

External links

[edit]
Blood products
General concepts
Methods
Tests
Transfusion reactions
and adverse effects
Blood group systems
1–50
51–100
101–150
151–200
201–250
251–300
301–350
By group
SLC1–10
(1):
(2):
(3):
(4):
(5):
(6):
(7):
(8):
(9):
(10):
SLC11–20
(11):
(12):
(13):
(14):
(15):
(16):
(17):
(18):
(19):
(20):
SLC21–30
(21):
(22):
(23):
(24):
(25):
(26):
(27):
(28):
(29):
(30):
SLC31–40
(31):
(32):
(33):
(34):
(35):
(36):
(37):
(38):
(39):
(40):
SLC41–48
(41):
(42):
(43):
(44):
(45):
(46):
(47):
(48):
SLCO1–4
Symporter,Cotransporter
Antiporter (exchanger)


Stub icon

Thismembrane protein–related article is astub. You can help Wikipedia byexpanding it.

Retrieved from "https://en.wikipedia.org/w/index.php?title=RHAG&oldid=1222068699"
Categories:
Hidden categories:
[8]ページ先頭
©2009-2025 Movatter.jp