RHCE_HUMAN
ID RHCE_HUMAN Reviewed; 417 AA.
AC P18577; A7DW68; B7UDF3; B7UDF4; B7UDF5; B7UDF6; B7UDF7; B7UDF8; B7UDF9;
AC B7UDG0; B7UDG1; B7UDG2; B7UDG3; Q02163; Q02164; Q02165; Q16160; Q2MJW0;
AC Q2VC86; Q3LTM6; Q6AZX5; Q6J2U3; Q7RU06; Q8IZT2; Q8IZT3; Q8IZT4; Q8IZT5;
AC Q9UD13; Q9UD14; Q9UD15; Q9UD16; Q9UD73; Q9UD74; Q9UEC2; Q9UEC3; Q9UPN0;
DT 01-NOV-1990, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 2.
DT 03-AUG-2022, entry version 185.
DE RecName: Full=Blood group Rh(CE) polypeptide;
DE AltName: Full=Rh polypeptide 1;
DE Short=RhPI;
DE AltName: Full=Rh30A;
DE AltName: Full=RhIXB;
DE AltName: Full=Rhesus C/E antigens;
DE AltName: CD_antigen=CD240CE;
GN Name=RHCE; Synonyms=RHC, RHE;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI).
RC TISSUE=Bone marrow;
RX PubMed=2123099; DOI=10.1042/bj2710821;
RA Avent N.D., Ridgwell K., Tanner M.J.A., Anstee D.J.;
RT "cDNA cloning of a 30 kDa erythrocyte membrane protein associated with Rh
RT (Rhesus)-blood-group-antigen expression.";
RL Biochem. J. 271:821-825(1990).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI), AND PARTIAL PROTEIN SEQUENCE.
RC TISSUE=Bone marrow;
RX PubMed=1696722; DOI=10.1073/pnas.87.16.6243;
RA Cherif-Zahar B., Bloy C., le van Kim C., Blanchard D., Bailly P.,
RA Hermand P., Salmon C., Cartron J.-P., Colin Y.;
RT "Molecular cloning and protein structure of a human blood group Rh
RT polypeptide.";
RL Proc. Natl. Acad. Sci. U.S.A. 87:6243-6247(1990).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS RHIV; RHVI AND RHVIII).
RC TISSUE=Bone marrow;
RX PubMed=1379850;
RA le van Kim C., Cherif-Zahar B., Raynal V., Mouro I., Lopez M.,
RA Cartron J.-P., Colin Y.;
RT "Multiple Rh messenger RNA isoforms are produced by alternative splicing.";
RL Blood 80:1074-1078(1992).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI).
RX PubMed=7916743; DOI=10.1007/bf00222717;
RA Kajii E., Umenishi F., Iwamoto S., Ikemoto S.;
RT "Isolation of a new cDNA clone encoding an Rh polypeptide associated with
RT the Rh blood group system.";
RL Hum. Genet. 91:157-162(1993).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI), VARIANT CYS-16, AND VARIANT E/RH5
RP ANTIGEN ALA-226.
RX PubMed=11380456; DOI=10.1046/j.1365-2141.2001.02803.x;
RA Westhoff C.M., Silberstein L.E., Wylie D.E., Skavdahl M., Reid M.E.;
RT "16Cys encoded by the RHce gene is associated with altered expression of
RT the e antigen and is frequent in the R0 haplotype.";
RL Br. J. Haematol. 113:666-671(2001).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI), AND VARIANTS ILE-60; SER-68;
RP SER-103; VAL-127; ASP-128; RHEKH THR-154; RHEFM GLU-233 AND RHEFM VAL-238.
RX PubMed=11724987; DOI=10.1046/j.1537-2995.2001.41111408.x;
RA Kashiwase K., Ishikawa Y., Hyodo H., Watanabe Y., Ogawa A., Tsuneyama H.,
RA Toyoda C., Uchikawa M., Akaza T., Omine M., Juji T.;
RT "E variants found in Japanese and c antigenicity alteration without
RT substitution in the second extracellular loop.";
RL Transfusion 41:1408-1412(2001).
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI), AND VARIANTS CYS-16; ALA-226;
RP VAL-238; VAL-245; GLY-263 AND LYS-267.
RX PubMed=12393640; DOI=10.1182/blood-2002-01-0229;
RA Noizat-Pirenne F., Lee K., Le Pennec P.-Y., Simon P., Kazup P., Bachir D.,
RA Rouzaud A.M., Roussel M., Juszczak G., Menanteau C., Rouger P., Kotb R.,
RA Cartron J.-P., Ansart-Pirenne H.;
RT "Rare RHCE phenotypes in black individuals of Afro-Caribbean origin:
RT identification and transfusion safety.";
RL Blood 100:4223-4231(2002).
RN [8]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI), AND VARIANTS CYS-16; ILE-60;
RP SER-68; SER-103 AND ALA-226.
RA Yan L., Xu X., Zhu F.;
RT "A new RhCe allele in Chinese Han population.";
RL Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI), AND VARIANTS CYS-16; ALA-226;
RP GLU-233 AND VAL-245.
RA Westhoff C.M., Vege S.;
RT "Molecular basis for Crawford antigen expression.";
RL Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases.
RN [10]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI), AND VARIANTS CYS-16; ILE-60;
RP SER-68 AND SER-103.
RA Vege S., Westhoff C.M.;
RT "RHCE gene, allele CE, antigen CE.";
RL Submitted (OCT-2005) to the EMBL/GenBank/DDBJ databases.
RN [11]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI), AND VARIANT ALA-226.
RA Westhoff C.M., Vege S.;
RT "RHCE gene, allele RHce, ce antigen.";
RL Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases.
RN [12]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS CYS-16; ILE-60; SER-68;
RP SER-103; ALA-226 AND GLU-398.
RA Wei Q., Flegel W.A.;
RT "RHD allele and RH haplotype distribution in Tibetans.";
RL Submitted (AUG-2006) to the EMBL/GenBank/DDBJ databases.
RN [13]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS CYS-16; ILE-60; SER-68;
RP SER-103; ALA-226 AND LYS-267.
RA Bugert P., Scharberg E.A., Geisen C., von Zabern I., Flegel W.A.;
RL Submitted (NOV-2008) to the EMBL/GenBank/DDBJ databases.
RN [14]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS CYS-16 AND
RP ALA-226.
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [15]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM RHI), AND VARIANTS CYS-16;
RP ILE-60; SER-68; SER-103 AND ALA-226.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [16]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-11.
RX PubMed=8188244; DOI=10.1006/geno.1994.1014;
RA Cherif-Zahar B., le van Kim C., Rouillac C., Raynal V., Cartron J.-P.,
RA Colin Y.;
RT "Organization of the gene (RHCE) encoding the human blood group RhCcEe
RT antigens and characterization of the promoter region.";
RL Genomics 19:68-74(1994).
RN [17]
RP PROTEIN SEQUENCE OF 2-33.
RX PubMed=3146980; DOI=10.1042/bj2561043;
RA Avent N.D., Ridgwell K., Mawby W.J., Tanner M.J.A., Anstee D.J., Kumpel B.;
RT "Protein-sequence studies on Rh-related polypeptides suggest the presence
RT of at least two groups of proteins which associate in the human red-cell
RT membrane.";
RL Biochem. J. 256:1043-1046(1988).
RN [18]
RP PROTEIN SEQUENCE OF 2-17.
RX PubMed=3135863;
RA Bloy C., Blanchard D., Dahr W., Beyreuther K., Salmon C., Cartron J.-P.;
RT "Determination of the N-terminal sequence of human red cell Rh(D)
RT polypeptide and demonstration that the Rh(D), (c), and (E) antigens are
RT carried by distinct polypeptide chains.";
RL Blood 72:661-666(1988).
RN [19]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 141-417 (ISOFORMS 1C; 1D; 1H; 2E; 4G; 7A; 8A;
RP 8E; 8H; RHIV AND RHVI), AND ALTERNATIVE SPLICING.
RC TISSUE=Blood;
RX PubMed=7789951; DOI=10.1007/bf00209483;
RA Kajii E., Umenishi F., Omi T., Ikemoto S.;
RT "Intricate combinatorial patterns of exon splicing generate multiple Rh-
RT related isoforms in human erythroid cells.";
RL Hum. Genet. 95:657-665(1995).
RN [20]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 201-417 (ISOFORMS 4G AND RHPI-ALPHA), AND
RP TISSUE SPECIFICITY.
RC TISSUE=Erythroblast;
RX PubMed=8117271; DOI=10.1006/bbrc.1994.1161;
RA Umenishi F., Kajii E., Ikemoto S.;
RT "Identification of two Rh mRNA isoforms expressed in immature
RT erythroblasts.";
RL Biochem. Biophys. Res. Commun. 198:1135-1142(1994).
RN [21]
RP PROTEIN SEQUENCE OF 402-409.
RX PubMed=1898705;
RA Suyama K., Goldstein J., Aebersold R., Kent S.;
RT "Regarding the size of Rh proteins.";
RL Blood 77:411-411(1991).
RN [22]
RP INVOLVEMENT IN RHNA.
RX PubMed=9657769;
RA Huang C.H., Chen Y., Reid M.E., Seidl C.;
RT "Rhnull disease: the amorph type results from a novel double mutation in
RT RhCe gene on D-negative background.";
RL Blood 92:664-671(1998).
RN [23]
RP IDENTIFICATION, AND VARIANTS CYS-16 AND ALA-226.
RX PubMed=11902138; DOI=10.1182/blood-2001-12-0153;
RA Wagner F.F., Flegel W.A.;
RT "RHCE represents the ancestral RH position, while RHD is the duplicated
RT gene.";
RL Blood 99:2272-2273(2002).
RN [24]
RP INVOLVEMENT IN RHNA.
RX PubMed=25413218; DOI=10.1111/trf.12937;
RA Silvy M., Beley S., Peyrard T., Ouchari M., Abdelkefi S., Jemni Yacoub S.,
RA Chiaroni J., Bailly P.;
RT "Short duplication within the RHCE gene associated with an in cis deleted
RT RHD causing a Rhnull amorph phenotype in an immunized pregnant woman with
RT anti-Rh29.";
RL Transfusion 55:1407-1410(2015).
RN [25]
RP VARIANTS BLOOD GROUP C AND E.
RX PubMed=8220426; DOI=10.1038/ng0993-62;
RA Mouro I., Colin Y., Cherif-Zahar B., Cartron J.-P., le van Kim C.;
RT "Molecular genetic basis of the human Rhesus blood group system.";
RL Nat. Genet. 5:62-65(1993).
CC -!- FUNCTION: May be part of an oligomeric complex which is likely to have
CC a transport or channel function in the erythrocyte membrane.
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=14;
CC Name=RHI;
CC IsoId=P18577-1; Sequence=Displayed;
CC Name=RHIV; Synonyms=1e;
CC IsoId=P18577-2; Sequence=VSP_005703, VSP_005704;
CC Name=RHVI; Synonyms=7c;
CC IsoId=P18577-3; Sequence=VSP_005702, VSP_005705;
CC Name=RHVIII;
CC IsoId=P18577-4; Sequence=VSP_005701;
CC Name=1c;
CC IsoId=P18577-5; Sequence=VSP_005705;
CC Name=1d;
CC IsoId=P18577-6; Sequence=VSP_037514;
CC Name=1h;
CC IsoId=P18577-7; Sequence=VSP_037513;
CC Name=2e;
CC IsoId=P18577-8; Sequence=VSP_037510, VSP_037512;
CC Name=4g; Synonyms=RhPI-Beta;
CC IsoId=P18577-9; Sequence=VSP_037509;
CC Name=7a;
CC IsoId=P18577-10; Sequence=VSP_005702;
CC Name=8a;
CC IsoId=P18577-11; Sequence=VSP_037506, VSP_037511;
CC Name=8e;
CC IsoId=P18577-12; Sequence=VSP_037507, VSP_037508;
CC Name=8h;
CC IsoId=P18577-13; Sequence=VSP_037505;
CC Name=RhPI-Alpha;
CC IsoId=P18577-14; Sequence=VSP_038405, VSP_038406;
CC -!- TISSUE SPECIFICITY: Restricted to tissues or cell lines expressing
CC erythroid characters. Isoform 4g and isoform RhPI-Alpha are expressed
CC in immature erythroblasts but not in mature erythroblasts.
CC {ECO:0000269|PubMed:8117271}.
CC -!- POLYMORPHISM: RhCE and RhD are responsible for the RH blood group
CC system. The molecular basis of the E=Rh3/e=Rh5 blood group antigens is
CC a single variation in position 226; Pro-226 corresponds to Rh3 and Ala-
CC 226 to Rh5. The molecular basis of the C=Rh2/c=Rh4 blood group antigens
CC is a single variation in position 102; Ser-103 corresponds to Rh2 and
CC Pro-103 to Rh4.
CC -!- DISEASE: Rh-null, amorph type (RHNA) [MIM:617970]: An autosomal
CC recessive condition characterized by red blood cells that lack all Rh
CC antigens, have increased osmotic fragility, diminished lifespan, and
CC show changes in morphology resulting in stomatocytosis. Rh-null
CC individuals have mild to moderate hemolytic anemia. They are at risk of
CC having adverse reactions in response to transfusion or pregnancy,
CC because they may produce antibodies against several of the Rh antigens.
CC {ECO:0000269|PubMed:25413218, ECO:0000269|PubMed:9657769}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the ammonium transporter (TC 2.A.49) family. Rh
CC subfamily. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation
CC database;
CC URL="https://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=rh";
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DR EMBL; X54534; CAA38401.1; -; mRNA.
DR EMBL; M34015; AAA36567.1; -; mRNA.
DR EMBL; X63095; CAA44809.1; -; mRNA.
DR EMBL; X63096; CAA44810.1; -; mRNA.
DR EMBL; X63098; CAA44812.1; -; mRNA.
DR EMBL; S57967; AAB26080.1; -; mRNA.
DR EMBL; DQ266400; ABB69097.1; -; mRNA.
DR EMBL; AB018644; BAA33927.1; -; mRNA.
DR EMBL; AB018645; BAA33928.1; -; mRNA.
DR EMBL; AB030388; BAA82627.1; -; mRNA.
DR EMBL; AB049753; BAB16597.1; -; mRNA.
DR EMBL; AF510065; AAN75121.1; -; mRNA.
DR EMBL; AF510066; AAN75122.1; -; mRNA.
DR EMBL; AF510067; AAN75123.1; -; mRNA.
DR EMBL; AF510068; AAN75124.1; -; mRNA.
DR EMBL; AY603478; AAT35811.1; -; mRNA.
DR EMBL; DQ178642; ABA25912.1; -; mRNA.
DR EMBL; DQ266353; ABB97471.1; -; mRNA.
DR EMBL; DQ322275; ABC55358.1; -; mRNA.
DR EMBL; AM398146; CAL44958.1; -; Genomic_DNA.
DR EMBL; FJ486155; ACK75562.1; -; Genomic_DNA.
DR EMBL; FJ486156; ACK75563.1; -; Genomic_DNA.
DR EMBL; FJ486157; ACK75564.1; -; Genomic_DNA.
DR EMBL; FJ486158; ACK75565.1; -; Genomic_DNA.
DR EMBL; FJ486159; ACK75566.1; -; Genomic_DNA.
DR EMBL; FJ486160; ACK75567.1; -; Genomic_DNA.
DR EMBL; FJ486161; ACK75568.1; -; Genomic_DNA.
DR EMBL; FJ486162; ACK75569.1; -; Genomic_DNA.
DR EMBL; FJ486163; ACK75570.1; -; Genomic_DNA.
DR EMBL; FJ486164; ACK75571.1; -; Genomic_DNA.
DR EMBL; FJ486165; ACK75572.1; -; Genomic_DNA.
DR EMBL; AL031284; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL928711; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC075081; AAH75081.1; -; mRNA.
DR EMBL; BC139905; AAI39906.1; -; mRNA.
DR EMBL; S70456; AAD14061.1; -; Genomic_DNA.
DR EMBL; BN000065; CAD29850.1; -; Genomic_DNA.
DR CCDS; CCDS30634.1; -. [P18577-4]
DR CCDS; CCDS30635.1; -. [P18577-1]
DR CCDS; CCDS30636.1; -. [P18577-3]
DR CCDS; CCDS30637.1; -. [P18577-2]
DR CCDS; CCDS81283.1; -. [P18577-5]
DR PIR; A30405; A30405.
DR PIR; I54193; I54193.
DR PIR; PC2032; PC2032.
DR PIR; PC2033; PC2033.
DR PIR; S78478; S78478.
DR PIR; S78479; S78479.
DR PIR; S78480; S78480.
DR RefSeq; NP_065231.3; NM_020485.4.
DR RefSeq; NP_619522.3; NM_138616.3. [P18577-4]
DR RefSeq; NP_619523.3; NM_138617.3. [P18577-3]
DR AlphaFoldDB; P18577; -.
DR SMR; P18577; -.
DR STRING; 9606.ENSP00000294413; -.
DR TCDB; 1.A.11.4.3; the ammonium transporter channel (amt) family.
DR iPTMnet; P18577; -.
DR PhosphoSitePlus; P18577; -.
DR BioMuta; RHCE; -.
DR DMDM; 132558; -.
DR jPOST; P18577; -.
DR MassIVE; P18577; -.
DR PaxDb; P18577; -.
DR PeptideAtlas; P18577; -.
DR PRIDE; P18577; -.
DR ProteomicsDB; 53578; -. [P18577-1]
DR ProteomicsDB; 53579; -. [P18577-10]
DR ProteomicsDB; 53580; -. [P18577-11]
DR ProteomicsDB; 53583; -. [P18577-14]
DR ProteomicsDB; 53584; -. [P18577-2]
DR ProteomicsDB; 53586; -. [P18577-4]
DR ProteomicsDB; 53587; -. [P18577-5]
DR ProteomicsDB; 53588; -. [P18577-6]
DR ProteomicsDB; 53589; -. [P18577-7]
DR ProteomicsDB; 53590; -. [P18577-8]
DR ProteomicsDB; 53591; -. [P18577-9]
DR ABCD; P18577; 5 sequenced antibodies.
DR Antibodypedia; 15860; 148 antibodies from 25 providers.
DR DNASU; 6006; -.
DR Ensembl; ENST00000294413.13; ENSP00000294413.6; ENSG00000188672.19.
DR GeneID; 6006; -.
DR KEGG; hsa:6006; -.
DR UCSC; uc001bkf.4; human. [P18577-1]
DR CTD; 6006; -.
DR DisGeNET; 6006; -.
DR GeneCards; RHCE; -.
DR HGNC; HGNC:10008; RHCE.
DR HPA; ENSG00000188672; Tissue enriched (bone).
DR MalaCards; RHCE; -.
DR MIM; 111700; gene.
DR MIM; 617970; phenotype.
DR neXtProt; NX_P18577; -.
DR Orphanet; 71275; Rh deficiency syndrome.
DR PharmGKB; PA34386; -.
DR VEuPathDB; HostDB:ENSG00000188672; -.
DR eggNOG; KOG3796; Eukaryota.
DR HOGENOM; CLU_021386_1_0_1; -.
DR InParanoid; P18577; -.
DR OrthoDB; 910733at2759; -.
DR PhylomeDB; P18577; -.
DR TreeFam; TF314450; -.
DR PathwayCommons; P18577; -.
DR Reactome; R-HSA-9037628; Rhesus blood group biosynthesis.
DR SIGNOR; P18577; -.
DR BioGRID-ORCS; 6006; 17 hits in 1069 CRISPR screens.
DR ChiTaRS; RHCE; human.
DR GeneWiki; RHCE_(gene); -.
DR GenomeRNAi; 6006; -.
DR Pharos; P18577; Tbio.
DR PRO; PR:P18577; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; P18577; protein.
DR Bgee; ENSG00000188672; Expressed in trabecular bone tissue and 105 other tissues.
DR ExpressionAtlas; P18577; baseline and differential.
DR Genevisible; P18577; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0008519; F:ammonium transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0097272; P:ammonium homeostasis; IBA:GO_Central.
DR GO; GO:0072488; P:ammonium transmembrane transport; IBA:GO_Central.
DR Gene3D; 1.10.3430.10; -; 1.
DR InterPro; IPR029020; Ammonium/urea_transptr.
DR InterPro; IPR024041; NH4_transpt_AmtB-like_dom.
DR InterPro; IPR002229; RhesusRHD.
DR Pfam; PF00909; Ammonium_transp; 1.
DR PRINTS; PR00342; RHESUSRHD.
PE 1: Evidence at protein level;
KW Alternative splicing; Blood group antigen; Direct protein sequencing;
KW Membrane; Reference proteome; Transmembrane; Transmembrane helix.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000269|PubMed:3135863,
FT ECO:0000269|PubMed:3146980"
FT CHAIN 2..417
FT /note="Blood group Rh(CE) polypeptide"
FT /id="PRO_0000168189"
FT TRANSMEM 12..32
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 44..64
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 77..97
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 125..145
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 172..192
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 203..223
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 238..258
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 265..285
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 287..307
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 331..351
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 358..378
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 163..409
FT /note="Missing (in isoform 8h)"
FT /evidence="ECO:0000303|PubMed:7789951"
FT /id="VSP_037505"
FT VAR_SEQ 163..313
FT /note="Missing (in isoform RHVIII)"
FT /evidence="ECO:0000303|PubMed:1379850"
FT /id="VSP_005701"
FT VAR_SEQ 163..220
FT /note="Missing (in isoform 8a)"
FT /evidence="ECO:0000303|PubMed:7789951"
FT /id="VSP_037506"
FT VAR_SEQ 163..203
FT /note="TDYHMNLRHFYVFAAYFGLTVAWCLPKPLPKGTEDNDQRAT -> DWLPGPP
FT QHWGTQLGHRDSSHVWSPDRFAPKSQNMESTSCG (in isoform 8e)"
FT /evidence="ECO:0000303|PubMed:7789951"
FT /id="VSP_037507"
FT VAR_SEQ 164..268
FT /note="Missing (in isoform RHVI and isoform 7a)"
FT /evidence="ECO:0000303|PubMed:1379850,
FT ECO:0000303|PubMed:7789951"
FT /id="VSP_005702"
FT VAR_SEQ 204..417
FT /note="Missing (in isoform 8e)"
FT /evidence="ECO:0000303|PubMed:7789951"
FT /id="VSP_037508"
FT VAR_SEQ 212..384
FT /note="Missing (in isoform 4g)"
FT /evidence="ECO:0000303|PubMed:7789951,
FT ECO:0000303|PubMed:8117271"
FT /id="VSP_037509"
FT VAR_SEQ 227..242
FT /note="LLRSPIQRKNAMFNTY -> DRFAPKSQNMESTSCG (in isoform
FT RhPI-Alpha)"
FT /evidence="ECO:0000303|PubMed:8117271"
FT /id="VSP_038405"
FT VAR_SEQ 243..417
FT /note="Missing (in isoform RhPI-Alpha)"
FT /evidence="ECO:0000303|PubMed:8117271"
FT /id="VSP_038406"
FT VAR_SEQ 268..308
FT /note="TYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISIGG -> DWLPGPP
FT QHWGTQLGHRDSSHVWSPDRFAPKSQNMESTSCG (in isoform 2e)"
FT /evidence="ECO:0000303|PubMed:7789951"
FT /id="VSP_037510"
FT VAR_SEQ 301..313
FT /note="Missing (in isoform 8a)"
FT /evidence="ECO:0000303|PubMed:7789951"
FT /id="VSP_037511"
FT VAR_SEQ 309..417
FT /note="Missing (in isoform 2e)"
FT /evidence="ECO:0000303|PubMed:7789951"
FT /id="VSP_037512"
FT VAR_SEQ 314..409
FT /note="Missing (in isoform 1h)"
FT /evidence="ECO:0000303|PubMed:7789951"
FT /id="VSP_037513"
FT VAR_SEQ 314..354
FT /note="VCCNRVLGIHHISVMHSIFSLLGLLGEITYIVLLVLHTVWN -> DWLPGPP
FT QHWGTQLGHRDSSHVWSPDRFAPKSQNMESTSCG (in isoform RHIV)"
FT /evidence="ECO:0000303|PubMed:1379850,
FT ECO:0000303|PubMed:7789951"
FT /id="VSP_005703"
FT VAR_SEQ 355..417
FT /note="Missing (in isoform RHIV)"
FT /evidence="ECO:0000303|PubMed:1379850,
FT ECO:0000303|PubMed:7789951"
FT /id="VSP_005704"
FT VAR_SEQ 358..417
FT /note="MIGFQVLLSIGELSLAIVIALTSGLLTGLLLNLKIWKAPHVAKYFDDQVFWK
FT FPHLAVGF -> IFLIWLLDFKQKHPRKTRPVQKQDNFLSLLPAVREKRS (in
FT isoform 1d)"
FT /evidence="ECO:0000303|PubMed:7789951"
FT /id="VSP_037514"
FT VAR_SEQ 359..417
FT /note="IGFQVLLSIGELSLAIVIALTSGLLTGLLLNLKIWKAPHVAKYFDDQVFWKF
FT PHLAVGF -> FAPKSQNMESTSCG (in isoform RHVI and isoform 1c)"
FT /evidence="ECO:0000303|PubMed:1379850,
FT ECO:0000303|PubMed:7789951"
FT /id="VSP_005705"
FT VARIANT 16
FT /note="W -> C (associated with altered expression of E
FT antigen)"
FT /evidence="ECO:0000269|PubMed:11380456,
FT ECO:0000269|PubMed:11902138, ECO:0000269|PubMed:12393640,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16710414,
FT ECO:0000269|Ref.10, ECO:0000269|Ref.12, ECO:0000269|Ref.13,
FT ECO:0000269|Ref.8, ECO:0000269|Ref.9"
FT /id="VAR_006911"
FT VARIANT 36
FT /note="A -> T (in C(X)/Rh9 antigen; dbSNP:rs145034271)"
FT /id="VAR_006912"
FT VARIANT 41
FT /note="Q -> R (in C(W)/Rh8 antigen; dbSNP:rs138268848)"
FT /id="VAR_006913"
FT VARIANT 60
FT /note="L -> I (in dbSNP:rs181860403)"
FT /evidence="ECO:0000269|PubMed:11724987,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.10,
FT ECO:0000269|Ref.12, ECO:0000269|Ref.13, ECO:0000269|Ref.8"
FT /id="VAR_006914"
FT VARIANT 68
FT /note="N -> S (in dbSNP:rs1053344)"
FT /evidence="ECO:0000269|PubMed:11724987,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.10,
FT ECO:0000269|Ref.12, ECO:0000269|Ref.13, ECO:0000269|Ref.8"
FT /id="VAR_006915"
FT VARIANT 103
FT /note="P -> S (in C/Rh2 antigen; dbSNP:rs676785)"
FT /evidence="ECO:0000269|PubMed:11724987,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.10,
FT ECO:0000269|Ref.12, ECO:0000269|Ref.13, ECO:0000269|Ref.8"
FT /id="VAR_006916"
FT VARIANT 127
FT /note="A -> V (in dbSNP:rs1053346)"
FT /evidence="ECO:0000269|PubMed:11724987"
FT /id="VAR_055260"
FT VARIANT 128
FT /note="G -> D (in dbSNP:rs1053347)"
FT /evidence="ECO:0000269|PubMed:11724987"
FT /id="VAR_055261"
FT VARIANT 154
FT /note="R -> T (found in antigen RhEKH)"
FT /evidence="ECO:0000269|PubMed:11724987"
FT /id="VAR_013301"
FT VARIANT 182
FT /note="T -> S (in dbSNP:rs1053350)"
FT /id="VAR_055262"
FT VARIANT 198
FT /note="N -> K (in dbSNP:rs1053354)"
FT /id="VAR_055263"
FT VARIANT 226
FT /note="P -> A (in E/Rh5 antigen; dbSNP:rs609320)"
FT /evidence="ECO:0000269|PubMed:11380456,
FT ECO:0000269|PubMed:11902138, ECO:0000269|PubMed:12393640,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16710414,
FT ECO:0000269|Ref.11, ECO:0000269|Ref.12, ECO:0000269|Ref.13,
FT ECO:0000269|Ref.8, ECO:0000269|Ref.9"
FT /id="VAR_006917"
FT VARIANT 233
FT /note="Q -> E (found in antigen RhEFM; dbSNP:rs142246017)"
FT /evidence="ECO:0000269|PubMed:11724987, ECO:0000269|Ref.9"
FT /id="VAR_013302"
FT VARIANT 238
FT /note="M -> V (found in antigen RhEFM; dbSNP:rs144163296)"
FT /evidence="ECO:0000269|PubMed:11724987,
FT ECO:0000269|PubMed:12393640"
FT /id="VAR_013303"
FT VARIANT 245
FT /note="L -> V (in VS antigen; dbSNP:rs1053361)"
FT /evidence="ECO:0000269|PubMed:12393640, ECO:0000269|Ref.9"
FT /id="VAR_006918"
FT VARIANT 263
FT /note="R -> G (in dbSNP:rs1132763)"
FT /evidence="ECO:0000269|PubMed:12393640"
FT /id="VAR_057987"
FT VARIANT 267
FT /note="M -> K (in dbSNP:rs1132764)"
FT /evidence="ECO:0000269|PubMed:12393640, ECO:0000269|Ref.13"
FT /id="VAR_057988"
FT VARIANT 323
FT /note="H -> P (in dbSNP:rs1053366)"
FT /id="VAR_055264"
FT VARIANT 325
FT /note="I -> S (in dbSNP:rs1053367)"
FT /id="VAR_055265"
FT VARIANT 329
FT /note="H -> D (in dbSNP:rs1053370)"
FT /id="VAR_055266"
FT VARIANT 329
FT /note="H -> R (in dbSNP:rs1053371)"
FT /id="VAR_055267"
FT VARIANT 330
FT /note="S -> Y (in dbSNP:rs1053372)"
FT /id="VAR_055268"
FT VARIANT 331
FT /note="I -> N (in dbSNP:rs1053373)"
FT /id="VAR_055269"
FT VARIANT 398
FT /note="V -> E (in dbSNP:rs630612)"
FT /evidence="ECO:0000269|Ref.12"
FT /id="VAR_057989"
FT CONFLICT 10
FT /note="R -> W (in Ref. 13; ACK75562)"
FT /evidence="ECO:0000305"
FT CONFLICT 12
FT /note="C -> L (in Ref. 18; AA sequence)"
FT /evidence="ECO:0000305"
FT CONFLICT 53
FT /note="D -> G (in Ref. 3; CAA44812)"
FT /evidence="ECO:0000305"
FT CONFLICT 61
FT /note="G -> C (in Ref. 3; CAA44812)"
FT /evidence="ECO:0000305"
FT CONFLICT 114
FT /note="R -> W (in Ref. 7; AAN75123)"
FT /evidence="ECO:0000305"
FT CONFLICT 115
FT /note="L -> P (in Ref. 13; ACK75563/ACK75565)"
FT /evidence="ECO:0000305"
FT CONFLICT 121
FT /note="M -> L (in Ref. 6; BAB16597/BAA82627)"
FT /evidence="ECO:0000305"
FT CONFLICT 122
FT /note="S -> P (in Ref. 13; ACK75564)"
FT /evidence="ECO:0000305"
FT CONFLICT 125
FT /note="I -> N (in Ref. 13; ACK75565)"
FT /evidence="ECO:0000305"
FT CONFLICT 152
FT /note="T -> N (in Ref. 6; BAB16597/BAA82627)"
FT /evidence="ECO:0000305"
FT CONFLICT 155
FT /note="M -> V (in Ref. 8; AAT35811)"
FT /evidence="ECO:0000305"
FT CONFLICT 166
FT /note="H -> L (in Ref. 13; ACK75566)"
FT /evidence="ECO:0000305"
FT CONFLICT 169
FT /note="L -> Q (in Ref. 13; ACK75567)"
FT /evidence="ECO:0000305"
FT CONFLICT 201
FT /note="R -> T (in Ref. 13; ACK75568)"
FT /evidence="ECO:0000305"
FT CONFLICT 217
FT /note="W -> R (in Ref. 13; ACK75569)"
FT /evidence="ECO:0000305"
FT CONFLICT 241
FT /note="T -> I (in Ref. 13; ACK75570)"
FT /evidence="ECO:0000305"
FT CONFLICT 250
FT /note="V -> M (in Ref. 7; AAN75124)"
FT /evidence="ECO:0000305"
FT CONFLICT 273
FT /note="A -> V (in Ref. 7; AAN75122)"
FT /evidence="ECO:0000305"
FT CONFLICT 303
FT /note="L -> Q (in Ref. 13; ACK75572)"
FT /evidence="ECO:0000305"
FT CONFLICT 378
FT /note="L -> V (in Ref. 7; AAN75122)"
FT /evidence="ECO:0000305"
FT CONFLICT 408..409
FT /note="WK -> DI (in Ref. 21; AA sequence)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 417 AA; 45560 MW; 29D33E778D9053DF CRC64;
MSSKYPRSVR RCLPLWALTL EAALILLFYF FTHYDASLED QKGLVASYQV GQDLTVMAAL
GLGFLTSNFR RHSWSSVAFN LFMLALGVQW AILLDGFLSQ FPPGKVVITL FSIRLATMSA
MSVLISAGAV LGKVNLAQLV VMVLVEVTAL GTLRMVISNI FNTDYHMNLR HFYVFAAYFG
LTVAWCLPKP LPKGTEDNDQ RATIPSLSAM LGALFLWMFW PSVNSPLLRS PIQRKNAMFN
TYYALAVSVV TAISGSSLAH PQRKISMTYV HSAVLAGGVA VGTSCHLIPS PWLAMVLGLV
AGLISIGGAK CLPVCCNRVL GIHHISVMHS IFSLLGLLGE ITYIVLLVLH TVWNGNGMIG
FQVLLSIGEL SLAIVIALTS GLLTGLLLNL KIWKAPHVAK YFDDQVFWKF PHLAVGF
