RHCE (gene)

RHCE
Identifiers
Aliases	RHCE, CD240CE, RH, RH30A, RHC, RHE, RHIXB, RHPI, Rh4, RhIVb(J), RhVI, RhVIII, Rh blood group CcEe antigens, RHCe(152N), RHNA
External IDs	OMIM: 111700 MGI: 1202882 HomoloGene: 7918 GeneCards: RHCE
Gene location (Human)
Chr.	Chromosome 1 (human)[1]
End	25,430,192 bp[1]
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)[2]
End	134,896,172 bp[2]
RNA expression pattern
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	• ammonium transmembrane transporter activity;
Cellular component	• integral component of membrane; • integral component of plasma membrane; • membrane;
Biological process	• ammonium transport; • organic cation transport; • ammonium transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	6006
	19746
	ENSG00000188672
	ENSMUSG00000028825
	P18577
	Q8CF94
	NM_020485; NM_138616; NM_138617; NM_138618; NM_001330430
	NM_011270
	NP_001317359; NP_065231; NP_619522; NP_619523; NP_619524
	NP_035400
	Wikidata
View/Edit Human	View/Edit Mouse

Blood group Rh(CE) polypeptide is a protein that in humans is encoded by the RHCE gene.[5][6] RHCE has also recently been designated CD240CE (cluster of differentiation 240CE).

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 both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. 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. Alternative splicing of this gene results in four transcript variants encoding four different isoforms.[6]

A recent study in the population of the island of Sardinia shows the association of a noncoding variant in the RHCE gene (rs630337) with an increased erythrocyte sedimentation rate(ESR). This suggest a possible causal effect of this polymorphism on this inflammatory marker despite not found in coding region of the gene.[7]

References

GRCh38: Ensembl release 89: ENSG00000188672 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000028825 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Mouro I, Colin Y, Cherif-Zahar B, Cartron JP, Le Van Kim C (Dec 1993). "Molecular genetic basis of the human Rhesus blood group system". Nat Genet. 5 (1): 62–5. doi:10.1038/ng0993-62. PMID 8220426.
"Entrez Gene: RHCE Rh blood group, CcEe antigens".
Sidore C; et al. (2015). "Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers". Nature Genetics. 47: 1272–1281. doi:10.1038/ng.3368. PMC 4627508. PMID 26366554.

Agre P, Cartron JP (1991). "Molecular biology of the Rh antigens". Blood. 78 (3): 551–63. PMID 1907207.
Avent ND, Reid ME (2000). "The Rh blood group system: a review". Blood. 95 (2): 375–87. doi:10.1182/blood.V95.2.375. PMID 10627438.
Flegel WA, Wagner FF (2000). "Molecular genetics of RH". Vox Sang. 78. Suppl 2: 109–15. PMID 10938938.
Wagner FF, Flegel WA (2004). "Review: the molecular basis of the Rh blood group phenotypes". Immunohematology / American Red Cross. 20 (1): 23–36. PMID 15373666.
Callebaut I, Dulin F, Bertrand O, et al. (2006). "Hydrophobic cluster analysis and modeling of the human Rh protein three-dimensional structures". Transfusion clinique et biologique : journal de la Société française de transfusion sanguine. 13 (1–2): 70–84. doi:10.1016/j.tracli.2006.02.001. PMID 16584906.
Le Van Kim C, Chérif-Zahar B, Raynal V, et al. (1992). "Multiple Rh messenger RNA isoforms are produced by alternative splicing". Blood. 80 (4): 1074–8. PMID 1379850.
Le van Kim C, Mouro I, Chérif-Zahar B, et al. (1992). "Molecular cloning and primary structure of the human blood group RhD polypeptide". Proc. Natl. Acad. Sci. U.S.A. 89 (22): 10925–9. doi:10.1073/pnas.89.22.10925. PMC 50455. PMID 1438298.
Chérif-Zahar B, Bloy C, Le Van Kim C, et al. (1990). "Molecular cloning and protein structure of a human blood group Rh polypeptide". Proc. Natl. Acad. Sci. U.S.A. 87 (16): 6243–7. doi:10.1073/pnas.87.16.6243. PMC 54509. PMID 1696722.
Suyama K, Goldstein J, Aebersold R, Kent S (1991). "Regarding the size of Rh proteins". Blood. 77 (2): 411. PMID 1898705.
Chérif-Zahar B, Mattéi MG, Le Van Kim C, et al. (1991). "Localization of the human Rh blood group gene structure to chromosome region 1p34.3-1p36.1 by in situ hybridization". Hum. Genet. 86 (4): 398–400. doi:10.1007/BF00201843. PMID 1900257.
Sawamura D, Li KH, Nomura K, et al. (1991). "Bullous pemphigoid antigen: cDNA cloning, cellular expression, and evidence for polymorphism of the human gene". J. Invest. Dermatol. 96 (6): 908–15. doi:10.1111/1523-1747.ep12475433. PMID 2045679.
Avent ND, Ridgwell K, Tanner MJ, Anstee DJ (1990). "cDNA cloning of a 30 kDa erythrocyte membrane protein associated with Rh (Rhesus)-blood-group-antigen expression". Biochem. J. 271 (3): 821–5. PMC 1149638. PMID 2123099.
Bloy C, Blanchard D, Dahr W, et al. (1988). "Determination of the N-terminal sequence of human red cell Rh(D) polypeptide and demonstration that the Rh(D), (c), and (E) antigens are carried by distinct polypeptide chains". Blood. 72 (2): 661–6. PMID 3135863.
Avent ND, Ridgwell K, Mawby WJ, et al. (1989). "Protein-sequence studies on Rh-related polypeptides suggest the presence of at least two groups of proteins which associate in the human red-cell membrane". Biochem. J. 256 (3): 1043–6. doi:10.1042/bj2561043. PMC 1135522. PMID 3146980.
Kajii E, Umenishi F, Iwamoto S, Ikemoto S (1993). "Isolation of a new cDNA clone encoding an Rh polypeptide associated with the Rh blood group system". Hum. Genet. 91 (2): 157–62. doi:10.1007/BF00222717. PMID 7916743.
Chérif-Zahar B, Le Van Kim C, Rouillac C, et al. (1994). "Organization of the gene (RHCE) encoding the human blood group RhCcEe antigens and characterization of the promoter region". Genomics. 19 (1): 68–74. doi:10.1006/geno.1994.1014. PMID 8188244.
Huang CH, Chen Y, Reid M, Ghosh S (1996). "Genetic recombination at the human RH locus: a family study of the red-cell Evans phenotype reveals a transfer of exons 2-6 from the RHD to the RHCE gene". Am. J. Hum. Genet. 59 (4): 825–33. PMC 1914783. PMID 8808597.
Huang CH (1996). "Alteration of RH gene structure and expression in human dCCee and DCW-red blood cells: phenotypic homozygosity versus genotypic heterozygosity". Blood. 88 (6): 2326–33. PMID 8822955.

External links

RHCE+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

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

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000188672 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028825 - 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.

[pmid8220426-5] Mouro I, Colin Y, Cherif-Zahar B, Cartron JP, Le Van Kim C (Dec 1993). "Molecular genetic basis of the human Rhesus blood group system". Nat Genet. 5 (1): 62–5. doi:10.1038/ng0993-62. PMID 8220426.

[entrez-6] "Entrez Gene: RHCE Rh blood group, CcEe antigens".

[7] Sidore C; et al. (2015). "Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers". Nature Genetics. 47: 1272–1281. doi:10.1038/ng.3368. PMC 4627508. PMID 26366554.

Proteins: clusters of differentiation (see also list of human clusters of differentiation)
1–50	CD1 a-c 1A 1B 1D 1E CD2 CD3 γ δ ε CD4 CD5 CD6 CD7 CD8 a CD9 CD10 CD11 a b c d CD13 CD14 CD15 CD16 A B CD18 CD19 CD20 CD21 CD22 CD23 CD24 CD25 CD26 CD27 CD28 CD29 CD30 CD31 CD32 A B CD33 CD34 CD35 CD36 CD37 CD38 CD39 CD40 CD41 CD42 a b c d CD43 CD44 CD45 CD46 CD47 CD48 CD49 a b c d e f CD50
51–100	CD51 CD52 CD53 CD54 CD55 CD56 CD57 CD58 CD59 CD61 CD62 E L P CD63 CD64 A B C CD66 a b c d e f CD68 CD69 CD70 CD71 CD72 CD73 CD74 CD78 CD79 a b CD80 CD81 CD82 CD83 CD84 CD85 a d e h j k CD86 CD87 CD88 CD89 CD90 CD91 - CD92 CD93 CD94 CD95 CD96 CD97 CD98 CD99 CD100
101–150	CD101 CD102 CD103 CD104 CD105 CD106 CD107 a b CD108 CD109 CD110 CD111 CD112 CD113 CD114 CD115 CD116 CD117 CD118 CD119 CD120 a b CD121 a b CD122 CD123 CD124 CD125 CD126 CD127 CD129 CD130 CD131 CD132 CD133 CD134 CD135 CD136 CD137 CD138 CD140b CD141 CD142 CD143 CD144 CD146 CD147 CD148 CD150
151–200	CD151 CD152 CD153 CD154 CD155 CD156 a b c CD157 CD158 (a d e i k) CD159 a c CD160 CD161 CD162 CD163 CD164 CD166 CD167 a b CD168 CD169 CD170 CD171 CD172 a b g CD174 CD177 CD178 CD179 a b CD180 CD181 CD182 CD183 CD184 CD185 CD186 CD191 CD192 CD193 CD194 CD195 CD196 CD197 CDw198 CDw199 CD200
201–250	CD201 CD202b CD204 CD205 CD206 CD207 CD208 CD209 CDw210 a b CD212 CD213a 1 2 CD217 CD218 (a b) CD220 CD221 CD222 CD223 CD224 CD225 CD226 CD227 CD228 CD229 CD230 CD233 CD234 CD235 a b CD236 CD238 CD239 CD240CE CD240D CD241 CD243 CD244 CD246 CD247 - CD248 CD249
251–300	CD252 CD253 CD254 CD256 CD257 CD258 CD261 CD262 CD263 CD264 CD265 CD266 CD267 CD268 CD269 CD271 CD272 CD273 CD274 CD275 CD276 CD278 CD279 CD280 CD281 CD282 CD283 CD284 CD286 CD288 CD289 CD290 CD292 CDw293 CD294 CD295 CD297 CD298 CD299
301–350	CD300A CD301 CD302 CD303 CD304 CD305 CD306 CD307 CD309 CD312 CD314 CD315 CD316 CD317 CD318 CD320 CD321 CD322 CD324 CD325 CD326 CD328 CD329 CD331 CD332 CD333 CD334 CD335 CD336 CD337 CD338 CD339 CD340 CD344 CD349 CD350

RHCE (gene)

References

Further reading

External links