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P18577 (RHCE_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Blood group Rh(CE) polypeptide
Alternative name(s):
Rh polypeptide 1
Short name=RhPI
Rh30A
RhIXB
Rhesus C/E antigens
CD_antigen=CD240CE
Gene names
Name:RHCE
Synonyms:RHC, RHE
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length417 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Restricted to tissues or cell lines expressing erythroid characters. Isoform 4g and isoform RhPI-Alpha are expressed in immature erythroblasts but not in mature erythroblasts. Ref.20

Polymorphism

RhCE and RhD are responsible for the RH blood group system. The molecular basis of the E=Rh3/e=Rh5 blood group antigens is a single variation in position 226; Pro-226 corresponds to Rh3 and Ala-226 to Rh5. The molecular basis of the C=Rh2/c=Rh4 blood group antigens is a single variation in position 102; Ser-103 corresponds to Rh2 and Pro-103 to Rh4.

Sequence similarities

Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily. [View classification]

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Molecular functionBlood group antigen
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of plasma membrane

Traceable author statement PubMed 1438298. Source: ProtInc

   Molecular_functionammonium transmembrane transporter activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 14 isoforms produced by alternative splicing. [Align] [Select]
Isoform RHI (identifier: P18577-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform RHIV (identifier: P18577-2)

Also known as: 1e;

The sequence of this isoform differs from the canonical sequence as follows:
     314-354: VCCNRVLGIH...VLLVLHTVWN → DWLPGPPQHW...SQNMESTSCG
     355-417: Missing.
Isoform RHVI (identifier: P18577-3)

Also known as: 7c;

The sequence of this isoform differs from the canonical sequence as follows:
     164-268: Missing.
     359-417: IGFQVLLSIGELSLAIVIALTSGLLTGLLLNLKIWKAPHVAKYFDDQVFWKFPHLAVGF → FAPKSQNMESTSCG
Isoform RHVIII (identifier: P18577-4)

The sequence of this isoform differs from the canonical sequence as follows:
     163-313: Missing.
Isoform 1c (identifier: P18577-5)

The sequence of this isoform differs from the canonical sequence as follows:
     359-417: IGFQVLLSIGELSLAIVIALTSGLLTGLLLNLKIWKAPHVAKYFDDQVFWKFPHLAVGF → FAPKSQNMESTSCG
Isoform 1d (identifier: P18577-6)

The sequence of this isoform differs from the canonical sequence as follows:
     358-417: MIGFQVLLSI...WKFPHLAVGF → IFLIWLLDFK...LLPAVREKRS
Isoform 1h (identifier: P18577-7)

The sequence of this isoform differs from the canonical sequence as follows:
     314-409: Missing.
Isoform 2e (identifier: P18577-8)

The sequence of this isoform differs from the canonical sequence as follows:
     268-308: TYVHSAVLAG...LVAGLISIGG → DWLPGPPQHW...SQNMESTSCG
     309-417: Missing.
Isoform 4g (identifier: P18577-9)

Also known as: RhPI-Beta;

The sequence of this isoform differs from the canonical sequence as follows:
     212-384: Missing.
Isoform 7a (identifier: P18577-10)

The sequence of this isoform differs from the canonical sequence as follows:
     164-268: Missing.
Isoform 8a (identifier: P18577-11)

The sequence of this isoform differs from the canonical sequence as follows:
     163-220: Missing.
     301-313: Missing.
Isoform 8e (identifier: P18577-12)

The sequence of this isoform differs from the canonical sequence as follows:
     163-203: TDYHMNLRHF...GTEDNDQRAT → DWLPGPPQHW...SQNMESTSCG
     204-417: Missing.
Isoform 8h (identifier: P18577-13)

The sequence of this isoform differs from the canonical sequence as follows:
     163-409: Missing.
Isoform RhPI-Alpha (identifier: P18577-14)

The sequence of this isoform differs from the canonical sequence as follows:
     227-242: LLRSPIQRKNAMFNTY → DRFAPKSQNMESTSCG
     243-417: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.17 Ref.18
Chain2 – 417416Blood group Rh(CE) polypeptide
PRO_0000168189

Regions

Transmembrane12 – 3221Helical; Potential
Transmembrane44 – 6421Helical; Potential
Transmembrane77 – 9721Helical; Potential
Transmembrane125 – 14521Helical; Potential
Transmembrane172 – 19221Helical; Potential
Transmembrane203 – 22321Helical; Potential
Transmembrane238 – 25821Helical; Potential
Transmembrane265 – 28521Helical; Potential
Transmembrane287 – 30721Helical; Potential
Transmembrane331 – 35121Helical; Potential
Transmembrane358 – 37821Helical; Potential

Natural variations

Alternative sequence163 – 409247Missing in isoform 8h.
VSP_037505
Alternative sequence163 – 313151Missing in isoform RHVIII.
VSP_005701
Alternative sequence163 – 22058Missing in isoform 8a.
VSP_037506
Alternative sequence163 – 20341TDYHM…DQRAT → DWLPGPPQHWGTQLGHRDSS HVWSPDRFAPKSQNMESTSC G in isoform 8e.
VSP_037507
Alternative sequence164 – 268105Missing in isoform RHVI and isoform 7a.
VSP_005702
Alternative sequence204 – 417214Missing in isoform 8e.
VSP_037508
Alternative sequence212 – 384173Missing in isoform 4g.
VSP_037509
Alternative sequence227 – 24216LLRSP…MFNTY → DRFAPKSQNMESTSCG in isoform RhPI-Alpha.
VSP_038405
Alternative sequence243 – 417175Missing in isoform RhPI-Alpha.
VSP_038406
Alternative sequence268 – 30841TYVHS…ISIGG → DWLPGPPQHWGTQLGHRDSS HVWSPDRFAPKSQNMESTSC G in isoform 2e.
VSP_037510
Alternative sequence301 – 31313Missing in isoform 8a.
VSP_037511
Alternative sequence309 – 417109Missing in isoform 2e.
VSP_037512
Alternative sequence314 – 40996Missing in isoform 1h.
VSP_037513
Alternative sequence314 – 35441VCCNR…HTVWN → DWLPGPPQHWGTQLGHRDSS HVWSPDRFAPKSQNMESTSC G in isoform RHIV.
VSP_005703
Alternative sequence355 – 41763Missing in isoform RHIV.
VSP_005704
Alternative sequence358 – 41760MIGFQ…LAVGF → IFLIWLLDFKQKHPRKTRPV QKQDNFLSLLPAVREKRS in isoform 1d.
VSP_037514
Alternative sequence359 – 41759IGFQV…LAVGF → FAPKSQNMESTSCG in isoform RHVI and isoform 1c.
VSP_005705
Natural variant161W → C Associated with altered expression of E antigen. Ref.5 Ref.7 Ref.8 Ref.9 Ref.10 Ref.12 Ref.13 Ref.14 Ref.15 Ref.22
VAR_006911
Natural variant361A → T in C(X)/Rh9 antigen.
VAR_006912
Natural variant411Q → R in C(W)/Rh8 antigen.
Corresponds to variant rs138268848 [ dbSNP | Ensembl ].
VAR_006913
Natural variant601L → I. Ref.6 Ref.8 Ref.10 Ref.12 Ref.13 Ref.15
Corresponds to variant rs181860403 [ dbSNP | Ensembl ].
VAR_006914
Natural variant681N → S. Ref.6 Ref.8 Ref.10 Ref.12 Ref.13 Ref.15
Corresponds to variant rs1053344 [ dbSNP | Ensembl ].
VAR_006915
Natural variant1031P → S in C/Rh2 antigen. Ref.6 Ref.8 Ref.10 Ref.12 Ref.13 Ref.15
Corresponds to variant rs676785 [ dbSNP | Ensembl ].
VAR_006916
Natural variant1271A → V. Ref.6
Corresponds to variant rs1053346 [ dbSNP | Ensembl ].
VAR_055260
Natural variant1281G → D. Ref.6
Corresponds to variant rs1053347 [ dbSNP | Ensembl ].
VAR_055261
Natural variant1541R → T in RhEKH. Ref.6
VAR_013301
Natural variant1821T → S.
Corresponds to variant rs1053350 [ dbSNP | Ensembl ].
VAR_055262
Natural variant1981N → K.
Corresponds to variant rs1053354 [ dbSNP | Ensembl ].
VAR_055263
Natural variant2261P → A in E/Rh5 antigen. Ref.5 Ref.7 Ref.8 Ref.9 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.22
Corresponds to variant rs609320 [ dbSNP | Ensembl ].
VAR_006917
Natural variant2331Q → E in RhEFM. Ref.6 Ref.9
VAR_013302
Natural variant2381M → V in RhEFM. Ref.6 Ref.7
Corresponds to variant rs144163296 [ dbSNP | Ensembl ].
VAR_013303
Natural variant2451L → V in VS antigen. Ref.7 Ref.9
Corresponds to variant rs1053361 [ dbSNP | Ensembl ].
VAR_006918
Natural variant2631R → G. Ref.7
Corresponds to variant rs1132763 [ dbSNP | Ensembl ].
VAR_057987
Natural variant2671M → K. Ref.7 Ref.13
Corresponds to variant rs1132764 [ dbSNP | Ensembl ].
VAR_057988
Natural variant3231H → P.
Corresponds to variant rs1053366 [ dbSNP | Ensembl ].
VAR_055264
Natural variant3251I → S.
Corresponds to variant rs1053367 [ dbSNP | Ensembl ].
VAR_055265
Natural variant3291H → D.
Corresponds to variant rs1053370 [ dbSNP | Ensembl ].
VAR_055266
Natural variant3291H → R.
Corresponds to variant rs1053371 [ dbSNP | Ensembl ].
VAR_055267
Natural variant3301S → Y.
Corresponds to variant rs1053372 [ dbSNP | Ensembl ].
VAR_055268
Natural variant3311I → N.
Corresponds to variant rs1053373 [ dbSNP | Ensembl ].
VAR_055269
Natural variant3981V → E. Ref.12
Corresponds to variant rs630612 [ dbSNP | Ensembl ].
VAR_057989

Experimental info

Sequence conflict101R → W in ACK75562. Ref.13
Sequence conflict121C → L AA sequence Ref.18
Sequence conflict531D → G in CAA44812. Ref.3
Sequence conflict611G → C in CAA44812. Ref.3
Sequence conflict1141R → W in AAN75123. Ref.7
Sequence conflict1151L → P in ACK75563. Ref.13
Sequence conflict1151L → P in ACK75565. Ref.13
Sequence conflict1211M → L in BAB16597. Ref.6
Sequence conflict1211M → L in BAA82627. Ref.6
Sequence conflict1221S → P in ACK75564. Ref.13
Sequence conflict1251I → N in ACK75565. Ref.13
Sequence conflict1521T → N in BAB16597. Ref.6
Sequence conflict1521T → N in BAA82627. Ref.6
Sequence conflict1551M → V in AAT35811. Ref.8
Sequence conflict1661H → L in ACK75566. Ref.13
Sequence conflict1691L → Q in ACK75567. Ref.13
Sequence conflict2011R → T in ACK75568. Ref.13
Sequence conflict2171W → R in ACK75569. Ref.13
Sequence conflict2411T → I in ACK75570. Ref.13
Sequence conflict2501V → M in AAN75124. Ref.7
Sequence conflict2731A → V in AAN75122. Ref.7
Sequence conflict3031L → Q in ACK75572. Ref.13
Sequence conflict3781L → V in AAN75122. Ref.7
Sequence conflict408 – 4092WK → DI AA sequence Ref.21

Sequences

Sequence LengthMass (Da)Tools
Isoform RHI [UniParc].

Last modified January 23, 2007. Version 2.
Checksum: 29D33E778D9053DF

FASTA41745,560
        10         20         30         40         50         60 
MSSKYPRSVR RCLPLWALTL EAALILLFYF FTHYDASLED QKGLVASYQV GQDLTVMAAL 

        70         80         90        100        110        120 
GLGFLTSNFR RHSWSSVAFN LFMLALGVQW AILLDGFLSQ FPPGKVVITL FSIRLATMSA 

       130        140        150        160        170        180 
MSVLISAGAV LGKVNLAQLV VMVLVEVTAL GTLRMVISNI FNTDYHMNLR HFYVFAAYFG 

       190        200        210        220        230        240 
LTVAWCLPKP LPKGTEDNDQ RATIPSLSAM LGALFLWMFW PSVNSPLLRS PIQRKNAMFN 

       250        260        270        280        290        300 
TYYALAVSVV TAISGSSLAH PQRKISMTYV HSAVLAGGVA VGTSCHLIPS PWLAMVLGLV 

       310        320        330        340        350        360 
AGLISIGGAK CLPVCCNRVL GIHHISVMHS IFSLLGLLGE ITYIVLLVLH TVWNGNGMIG 

       370        380        390        400        410 
FQVLLSIGEL SLAIVIALTS GLLTGLLLNL KIWKAPHVAK YFDDQVFWKF PHLAVGF 

« Hide

Isoform RHIV (1e) [UniParc].

Checksum: 2ED52E5FF2B9085D
Show »

FASTA35438,698
Isoform RHVI (7c) [UniParc].

Checksum: BEF2BF74DCF531E1
Show »

FASTA26728,702
Isoform RHVIII [UniParc].

Checksum: 728E70D6F0CEB46A
Show »

FASTA26629,256
Isoform 1c [UniParc].

Checksum: B3B22D8C3FD0E07B
Show »

FASTA37240,523
Isoform 1d [UniParc].

Checksum: EFABE59673D8AD25
Show »

FASTA39543,553
Isoform 1h [UniParc].

Checksum: E2A4BE357967545A
Show »

FASTA32134,967
Isoform 2e [UniParc].

Checksum: 3B4E7B35E439386C
Show »

FASTA30834,215
Isoform 4g (RhPI-Beta) [UniParc].

Checksum: D33E72E9B94F1D08
Show »

FASTA24427,259
Isoform 7a [UniParc].

Checksum: C852D699223E9A22
Show »

FASTA31233,739
Isoform 8a [UniParc].

Checksum: B72694FC03CA96A1
Show »

FASTA34637,643
Isoform 8e [UniParc].

Checksum: F219A5EB7706D655
Show »

FASTA20322,394
Isoform 8h [UniParc].

Checksum: 8187115F3B54081F
Show »

FASTA17018,663
Isoform RhPI-Alpha [UniParc].

Checksum: E6EA91C2781C2782
Show »

FASTA24226,852

References

« Hide 'large scale' references
[1]"cDNA cloning of a 30 kDa erythrocyte membrane protein associated with Rh (Rhesus)-blood-group-antigen expression."
Avent N.D., Ridgwell K., Tanner M.J.A., Anstee D.J.
Biochem. J. 271:821-825(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI).
Tissue: Bone marrow.
[2]"Molecular cloning and protein structure of a human blood group Rh polypeptide."
Cherif-Zahar B., Bloy C., le van Kim C., Blanchard D., Bailly P., Hermand P., Salmon C., Cartron J.-P., Colin Y.
Proc. Natl. Acad. Sci. U.S.A. 87:6243-6247(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI), PARTIAL PROTEIN SEQUENCE.
Tissue: Bone marrow.
[3]"Multiple Rh messenger RNA isoforms are produced by alternative splicing."
le van Kim C., Cherif-Zahar B., Raynal V., Mouro I., Lopez M., Cartron J.-P., Colin Y.
Blood 80:1074-1078(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS RHIV; RHVI AND RHVIII).
Tissue: Bone marrow.
[4]"Isolation of a new cDNA clone encoding an Rh polypeptide associated with the Rh blood group system."
Kajii E., Umenishi F., Iwamoto S., Ikemoto S.
Hum. Genet. 91:157-162(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI).
[5]"16Cys encoded by the RHce gene is associated with altered expression of the e antigen and is frequent in the R0 haplotype."
Westhoff C.M., Silberstein L.E., Wylie D.E., Skavdahl M., Reid M.E.
Br. J. Haematol. 113:666-671(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI), VARIANT CYS-16, VARIANT E/RH5 ANTIGEN ALA-226.
[6]"E variants found in Japanese and c antigenicity alteration without substitution in the second extracellular loop."
Kashiwase K., Ishikawa Y., Hyodo H., Watanabe Y., Ogawa A., Tsuneyama H., Toyoda C., Uchikawa M., Akaza T., Omine M., Juji T.
Transfusion 41:1408-1412(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI), VARIANTS ILE-60; SER-68; SER-103; VAL-127; ASP-128; RHEKH THR-154; RHEFM GLU-233 AND RHEFM VAL-238.
[7]"Rare RHCE phenotypes in black individuals of Afro-Caribbean origin: identification and transfusion safety."
Noizat-Pirenne F., Lee K., Le Pennec P.-Y., Simon P., Kazup P., Bachir D., Rouzaud A.M., Roussel M., Juszczak G., Menanteau C., Rouger P., Kotb R., Cartron J.-P., Ansart-Pirenne H.
Blood 100:4223-4231(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI), VARIANTS CYS-16; ALA-226; VAL-238; VAL-245; GLY-263 AND LYS-267.
[8]"A new RhCe allele in Chinese Han population."
Yan L., Xu X., Zhu F.
Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI), VARIANTS CYS-16; ILE-60; SER-68; SER-103 AND ALA-226.
[9]"Molecular basis for Crawford antigen expression."
Westhoff C.M., Vege S.
Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI), VARIANTS CYS-16; ALA-226; GLU-233 AND VAL-245.
[10]"RHCE gene, allele CE, antigen CE."
Vege S., Westhoff C.M.
Submitted (OCT-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI), VARIANTS CYS-16; ILE-60; SER-68 AND SER-103.
[11]"RHCE gene, allele RHce, ce antigen."
Westhoff C.M., Vege S.
Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI), VARIANT ALA-226.
[12]"RHD allele and RH haplotype distribution in Tibetans."
Wei Q., Flegel W.A.
Submitted (AUG-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CYS-16; ILE-60; SER-68; SER-103; ALA-226 AND GLU-398.
[13]Bugert P., Scharberg E.A., Geisen C., von Zabern I., Flegel W.A.
Submitted (NOV-2008) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CYS-16; ILE-60; SER-68; SER-103; ALA-226 AND LYS-267.
[14]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS CYS-16 AND ALA-226.
[15]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM RHI), VARIANTS CYS-16; ILE-60; SER-68; SER-103 AND ALA-226.
Tissue: Brain.
[16]"Organization of the gene (RHCE) encoding the human blood group RhCcEe antigens and characterization of the promoter region."
Cherif-Zahar B., le van Kim C., Rouillac C., Raynal V., Cartron J.-P., Colin Y.
Genomics 19:68-74(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-11.
[17]"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."
Avent N.D., Ridgwell K., Mawby W.J., Tanner M.J.A., Anstee D.J., Kumpel B.
Biochem. J. 256:1043-1046(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 2-33.
[18]"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."
Bloy C., Blanchard D., Dahr W., Beyreuther K., Salmon C., Cartron J.-P.
Blood 72:661-666(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 2-17.
[19]"Intricate combinatorial patterns of exon splicing generate multiple Rh-related isoforms in human erythroid cells."
Kajii E., Umenishi F., Omi T., Ikemoto S.
Hum. Genet. 95:657-665(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 141-417 (ISOFORMS 1C; 1D; 1H; 2E; 4G; 7A; 8A; 8E; 8H; RHIV AND RHVI), ALTERNATIVE SPLICING.
Tissue: Blood.
[20]"Identification of two Rh mRNA isoforms expressed in immature erythroblasts."
Umenishi F., Kajii E., Ikemoto S.
Biochem. Biophys. Res. Commun. 198:1135-1142(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 201-417 (ISOFORMS 4G AND RHPI-ALPHA), TISSUE SPECIFICITY.
Tissue: Erythroblast.
[21]"Regarding the size of Rh proteins."
Suyama K., Goldstein J., Aebersold R., Kent S.
Blood 77:411-411(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 402-409.
[22]"RHCE represents the ancestral RH position, while RHD is the duplicated gene."
Wagner F.F., Flegel W.A.
Blood 99:2272-2273(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION, VARIANTS CYS-16 AND ALA-226.
[23]"Molecular genetic basis of the human Rhesus blood group system."
Mouro I., Colin Y., Cherif-Zahar B., Cartron J.-P., le van Kim C.
Nat. Genet. 5:62-65(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BLOOD GROUP C AND E.
+Additional computationally mapped references.

Web resources

dbRBC/BGMUT

Blood group antigen gene mutation database

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X54534 mRNA. Translation: CAA38401.1.
M34015 mRNA. Translation: AAA36567.1.
X63095 mRNA. Translation: CAA44809.1.
X63096 mRNA. Translation: CAA44810.1.
X63098 mRNA. Translation: CAA44812.1.
S57967 mRNA. Translation: AAB26080.1.
DQ266400 mRNA. Translation: ABB69097.1.
AB018644 mRNA. Translation: BAA33927.1.
AB018645 mRNA. Translation: BAA33928.1.
AB030388 mRNA. Translation: BAA82627.1.
AB049753 mRNA. Translation: BAB16597.1.
AF510065 mRNA. Translation: AAN75121.1.
AF510066 mRNA. Translation: AAN75122.1.
AF510067 mRNA. Translation: AAN75123.1.
AF510068 mRNA. Translation: AAN75124.1.
AY603478 mRNA. Translation: AAT35811.1.
DQ178642 mRNA. Translation: ABA25912.1.
DQ266353 mRNA. Translation: ABB97471.1.
DQ322275 mRNA. Translation: ABC55358.1.
AM398146 Genomic DNA. Translation: CAL44958.1.
FJ486155 Genomic DNA. Translation: ACK75562.1.
FJ486156 Genomic DNA. Translation: ACK75563.1.
FJ486157 Genomic DNA. Translation: ACK75564.1.
FJ486158 Genomic DNA. Translation: ACK75565.1.
FJ486159 Genomic DNA. Translation: ACK75566.1.
FJ486160 Genomic DNA. Translation: ACK75567.1.
FJ486161 Genomic DNA. Translation: ACK75568.1.
FJ486162 Genomic DNA. Translation: ACK75569.1.
FJ486163 Genomic DNA. Translation: ACK75570.1.
FJ486164 Genomic DNA. Translation: ACK75571.1.
FJ486165 Genomic DNA. Translation: ACK75572.1.
AL031284, AL928711 Genomic DNA. Translation: CAM12858.1.
AL928711, AL031284 Genomic DNA. Translation: CAH72605.1.
BC075081 mRNA. Translation: AAH75081.1.
BC139905 mRNA. Translation: AAI39906.1.
S70456 Genomic DNA. Translation: AAD14061.1.
BN000065 Genomic DNA. Translation: CAD29850.1.
PIRA30405.
I54193.
PC2032.
PC2033.
S78478.
S78479.
S78480.
RefSeqNP_065231.3. NM_020485.4.
NP_619522.3. NM_138616.3.
NP_619523.3. NM_138617.3.
NP_619524.3. NM_138618.3.
UniGeneHs.449968.
Hs.523054.

3D structure databases

ProteinModelPortalP18577.
SMRP18577. Positions 3-414.
ModBaseSearch...
MobiDBSearch...

Protein family/group databases

TCDB1.A.11.4.3. the ammonia transporter channel (amt) family.

PTM databases

PhosphoSiteP18577.

Polymorphism databases

DMDM132558.

Proteomic databases

PaxDbP18577.
PRIDEP18577.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000294413; ENSP00000294413; ENSG00000188672.
GeneID6006.
KEGGhsa:6006.
UCSCuc001bkf.3. human. [P18577-1]
uc001bkh.3. human. [P18577-3]
uc001bki.3. human. [P18577-4]

Organism-specific databases

CTD6006.
GeneCardsGC01M025688.
H-InvDBHIX0023511.
HGNCHGNC:10008. RHCE.
MIM111690. phenotype.
111700. gene+phenotype.
neXtProtNX_P18577.
Orphanet71275. Rh deficiency syndrome.
PharmGKBPA34386.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG314742.
HOVERGENHBG004374.
InParanoidP18577.
KOK06579.
OrthoDBEOG73NG3C.
PhylomeDBP18577.
TreeFamTF314450.

Gene expression databases

ArrayExpressP18577.
BgeeP18577.
CleanExHS_RHCE.
GenevestigatorP18577.

Family and domain databases

InterProIPR024041. NH4_transpt_AmtB-like_dom.
IPR002229. RhesusRHD.
[Graphical view]
PfamPF00909. Ammonium_transp. 1 hit.
[Graphical view]
PRINTSPR00342. RHESUSRHD.
SUPFAMSSF111352. SSF111352. 1 hit.
ProtoNetSearch...

Other

GeneWikiRHCE_(gene).
GenomeRNAi6006.
NextBio23427.
PROP18577.
SOURCESearch...

Entry information

Entry nameRHCE_HUMAN
AccessionPrimary (citable) accession number: P18577
Secondary accession number(s): A7DW68 expand/collapse secondary AC list , B7UDF3, B7UDF4, B7UDF5, B7UDF6, B7UDF7, B7UDF8, B7UDF9, B7UDG0, B7UDG1, B7UDG2, B7UDG3, Q02163, Q02164, Q02165, Q16160, Q2MJW0, Q2VC86, Q3LTM6, Q6AZX5, Q6J2U3, Q7RU06, Q8IZT2, Q8IZT3, Q8IZT4, Q8IZT5, Q9UD13, Q9UD14, Q9UD15, Q9UD16, Q9UD73, Q9UD74, Q9UEC2, Q9UEC3, Q9UPN0
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: January 23, 2007
Last modified: April 16, 2014
This is version 130 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM

Human cell differentiation molecules

CD nomenclature of surface proteins of human leucocytes and list of entries

Blood group antigen proteins

Nomenclature of blood group antigens and list of entries