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P18577

- RHCE_HUMAN

UniProt

P18577 - RHCE_HUMAN

Protein

Blood group Rh(CE) polypeptide

Gene

RHCE

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 2 (23 Jan 2007)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. ammonium transmembrane transporter activity Source: InterPro

    Keywords - Molecular functioni

    Blood group antigen

    Protein family/group databases

    TCDBi1.A.11.4.3. the ammonia transporter channel (amt) family.

    Names & Taxonomyi

    Protein namesi
    Recommended 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 namesi
    Name:RHCE
    Synonyms:RHC, RHE
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:10008. RHCE.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    MIMi111690. phenotype.
    111700. gene+phenotype.
    Orphaneti71275. Rh deficiency syndrome.
    PharmGKBiPA34386.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed2 Publications
    Chaini2 – 417416Blood group Rh(CE) polypeptidePRO_0000168189Add
    BLAST

    Proteomic databases

    PaxDbiP18577.
    PRIDEiP18577.

    PTM databases

    PhosphoSiteiP18577.

    Expressioni

    Tissue specificityi

    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.1 Publication

    Gene expression databases

    ArrayExpressiP18577.
    BgeeiP18577.
    CleanExiHS_RHCE.
    GenevestigatoriP18577.

    Structurei

    3D structure databases

    ProteinModelPortaliP18577.
    SMRiP18577. Positions 3-414.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei12 – 3221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei44 – 6421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei77 – 9721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei125 – 14521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei172 – 19221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei203 – 22321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei238 – 25821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei265 – 28521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei287 – 30721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei331 – 35121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei358 – 37821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG314742.
    HOVERGENiHBG004374.
    InParanoidiP18577.
    KOiK06579.
    OrthoDBiEOG73NG3C.
    PhylomeDBiP18577.
    TreeFamiTF314450.

    Family and domain databases

    Gene3Di1.10.3430.10. 1 hit.
    InterProiIPR029020. Ammonium/urea_transptr.
    IPR024041. NH4_transpt_AmtB-like_dom.
    IPR002229. RhesusRHD.
    [Graphical view]
    PfamiPF00909. Ammonium_transp. 1 hit.
    [Graphical view]
    PRINTSiPR00342. RHESUSRHD.
    SUPFAMiSSF111352. SSF111352. 1 hit.

    Sequences (14)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 14 isoformsi produced by alternative splicing. Align

    Isoform RHI (identifier: P18577-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MSSKYPRSVR RCLPLWALTL EAALILLFYF FTHYDASLED QKGLVASYQV    50
    GQDLTVMAAL GLGFLTSNFR RHSWSSVAFN LFMLALGVQW AILLDGFLSQ 100
    FPPGKVVITL FSIRLATMSA MSVLISAGAV LGKVNLAQLV VMVLVEVTAL 150
    GTLRMVISNI FNTDYHMNLR HFYVFAAYFG LTVAWCLPKP LPKGTEDNDQ 200
    RATIPSLSAM LGALFLWMFW PSVNSPLLRS PIQRKNAMFN TYYALAVSVV 250
    TAISGSSLAH PQRKISMTYV HSAVLAGGVA VGTSCHLIPS PWLAMVLGLV 300
    AGLISIGGAK CLPVCCNRVL GIHHISVMHS IFSLLGLLGE ITYIVLLVLH 350
    TVWNGNGMIG FQVLLSIGEL SLAIVIALTS GLLTGLLLNL KIWKAPHVAK 400
    YFDDQVFWKF PHLAVGF 417
    Length:417
    Mass (Da):45,560
    Last modified:January 23, 2007 - v2
    Checksum:i29D33E778D9053DF
    GO
    Isoform RHIV (identifier: P18577-2) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:354
    Mass (Da):38,698
    Checksum:i2ED52E5FF2B9085D
    GO
    Isoform RHVI (identifier: P18577-3) [UniParc]FASTAAdd to Basket

    Also known as: 7c

    The sequence of this isoform differs from the canonical sequence as follows:
         164-268: Missing.
         359-417: IGFQVLLSIGELSLAIVIALTSGLLTGLLLNLKIWKAPHVAKYFDDQVFWKFPHLAVGF → FAPKSQNMESTSCG

    Show »
    Length:267
    Mass (Da):28,702
    Checksum:iBEF2BF74DCF531E1
    GO
    Isoform RHVIII (identifier: P18577-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         163-313: Missing.

    Show »
    Length:266
    Mass (Da):29,256
    Checksum:i728E70D6F0CEB46A
    GO
    Isoform 1c (identifier: P18577-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         359-417: IGFQVLLSIGELSLAIVIALTSGLLTGLLLNLKIWKAPHVAKYFDDQVFWKFPHLAVGF → FAPKSQNMESTSCG

    Show »
    Length:372
    Mass (Da):40,523
    Checksum:iB3B22D8C3FD0E07B
    GO
    Isoform 1d (identifier: P18577-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         358-417: MIGFQVLLSI...WKFPHLAVGF → IFLIWLLDFK...LLPAVREKRS

    Show »
    Length:395
    Mass (Da):43,553
    Checksum:iEFABE59673D8AD25
    GO
    Isoform 1h (identifier: P18577-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         314-409: Missing.

    Show »
    Length:321
    Mass (Da):34,967
    Checksum:iE2A4BE357967545A
    GO
    Isoform 2e (identifier: P18577-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         268-308: TYVHSAVLAG...LVAGLISIGG → DWLPGPPQHW...SQNMESTSCG
         309-417: Missing.

    Show »
    Length:308
    Mass (Da):34,215
    Checksum:i3B4E7B35E439386C
    GO
    Isoform 4g (identifier: P18577-9) [UniParc]FASTAAdd to Basket

    Also known as: RhPI-Beta

    The sequence of this isoform differs from the canonical sequence as follows:
         212-384: Missing.

    Show »
    Length:244
    Mass (Da):27,259
    Checksum:iD33E72E9B94F1D08
    GO
    Isoform 7a (identifier: P18577-10) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         164-268: Missing.

    Show »
    Length:312
    Mass (Da):33,739
    Checksum:iC852D699223E9A22
    GO
    Isoform 8a (identifier: P18577-11) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         163-220: Missing.
         301-313: Missing.

    Show »
    Length:346
    Mass (Da):37,643
    Checksum:iB72694FC03CA96A1
    GO
    Isoform 8e (identifier: P18577-12) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         163-203: TDYHMNLRHF...GTEDNDQRAT → DWLPGPPQHW...SQNMESTSCG
         204-417: Missing.

    Show »
    Length:203
    Mass (Da):22,394
    Checksum:iF219A5EB7706D655
    GO
    Isoform 8h (identifier: P18577-13) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         163-409: Missing.

    Show »
    Length:170
    Mass (Da):18,663
    Checksum:i8187115F3B54081F
    GO
    Isoform RhPI-Alpha (identifier: P18577-14) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:242
    Mass (Da):26,852
    Checksum:iE6EA91C2781C2782
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti10 – 101R → W in ACK75562. 1 PublicationCurated
    Sequence conflicti12 – 121C → L AA sequence (PubMed:3135863)Curated
    Sequence conflicti53 – 531D → G in CAA44812. (PubMed:1379850)Curated
    Sequence conflicti61 – 611G → C in CAA44812. (PubMed:1379850)Curated
    Sequence conflicti114 – 1141R → W in AAN75123. (PubMed:12393640)Curated
    Sequence conflicti115 – 1151L → P in ACK75563. 1 PublicationCurated
    Sequence conflicti115 – 1151L → P in ACK75565. 1 PublicationCurated
    Sequence conflicti121 – 1211M → L in BAB16597. (PubMed:11724987)Curated
    Sequence conflicti121 – 1211M → L in BAA82627. (PubMed:11724987)Curated
    Sequence conflicti122 – 1221S → P in ACK75564. 1 PublicationCurated
    Sequence conflicti125 – 1251I → N in ACK75565. 1 PublicationCurated
    Sequence conflicti152 – 1521T → N in BAB16597. (PubMed:11724987)Curated
    Sequence conflicti152 – 1521T → N in BAA82627. (PubMed:11724987)Curated
    Sequence conflicti155 – 1551M → V in AAT35811. 1 PublicationCurated
    Sequence conflicti166 – 1661H → L in ACK75566. 1 PublicationCurated
    Sequence conflicti169 – 1691L → Q in ACK75567. 1 PublicationCurated
    Sequence conflicti201 – 2011R → T in ACK75568. 1 PublicationCurated
    Sequence conflicti217 – 2171W → R in ACK75569. 1 PublicationCurated
    Sequence conflicti241 – 2411T → I in ACK75570. 1 PublicationCurated
    Sequence conflicti250 – 2501V → M in AAN75124. (PubMed:12393640)Curated
    Sequence conflicti273 – 2731A → V in AAN75122. (PubMed:12393640)Curated
    Sequence conflicti303 – 3031L → Q in ACK75572. 1 PublicationCurated
    Sequence conflicti378 – 3781L → V in AAN75122. (PubMed:12393640)Curated
    Sequence conflicti408 – 4092WK → DI AA sequence (PubMed:1898705)Curated

    Polymorphismi

    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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti16 – 161W → C Associated with altered expression of E antigen. 10 Publications
    VAR_006911
    Natural varianti36 – 361A → T in C(X)/Rh9 antigen.
    VAR_006912
    Natural varianti41 – 411Q → R in C(W)/Rh8 antigen.
    Corresponds to variant rs138268848 [ dbSNP | Ensembl ].
    VAR_006913
    Natural varianti60 – 601L → I.6 Publications
    Corresponds to variant rs181860403 [ dbSNP | Ensembl ].
    VAR_006914
    Natural varianti68 – 681N → S.6 Publications
    Corresponds to variant rs1053344 [ dbSNP | Ensembl ].
    VAR_006915
    Natural varianti103 – 1031P → S in C/Rh2 antigen. 6 Publications
    Corresponds to variant rs676785 [ dbSNP | Ensembl ].
    VAR_006916
    Natural varianti127 – 1271A → V.1 Publication
    Corresponds to variant rs1053346 [ dbSNP | Ensembl ].
    VAR_055260
    Natural varianti128 – 1281G → D.1 Publication
    Corresponds to variant rs1053347 [ dbSNP | Ensembl ].
    VAR_055261
    Natural varianti154 – 1541R → T in RhEKH. 1 Publication
    VAR_013301
    Natural varianti182 – 1821T → S.
    Corresponds to variant rs1053350 [ dbSNP | Ensembl ].
    VAR_055262
    Natural varianti198 – 1981N → K.
    Corresponds to variant rs1053354 [ dbSNP | Ensembl ].
    VAR_055263
    Natural varianti226 – 2261P → A in E/Rh5 antigen. 10 Publications
    Corresponds to variant rs609320 [ dbSNP | Ensembl ].
    VAR_006917
    Natural varianti233 – 2331Q → E in RhEFM. 2 Publications
    VAR_013302
    Natural varianti238 – 2381M → V in RhEFM. 2 Publications
    Corresponds to variant rs144163296 [ dbSNP | Ensembl ].
    VAR_013303
    Natural varianti245 – 2451L → V in VS antigen. 2 Publications
    Corresponds to variant rs1053361 [ dbSNP | Ensembl ].
    VAR_006918
    Natural varianti263 – 2631R → G.1 Publication
    Corresponds to variant rs1132763 [ dbSNP | Ensembl ].
    VAR_057987
    Natural varianti267 – 2671M → K.2 Publications
    Corresponds to variant rs1132764 [ dbSNP | Ensembl ].
    VAR_057988
    Natural varianti323 – 3231H → P.
    Corresponds to variant rs1053366 [ dbSNP | Ensembl ].
    VAR_055264
    Natural varianti325 – 3251I → S.
    Corresponds to variant rs1053367 [ dbSNP | Ensembl ].
    VAR_055265
    Natural varianti329 – 3291H → D.
    Corresponds to variant rs1053370 [ dbSNP | Ensembl ].
    VAR_055266
    Natural varianti329 – 3291H → R.
    Corresponds to variant rs1053371 [ dbSNP | Ensembl ].
    VAR_055267
    Natural varianti330 – 3301S → Y.
    Corresponds to variant rs1053372 [ dbSNP | Ensembl ].
    VAR_055268
    Natural varianti331 – 3311I → N.
    Corresponds to variant rs1053373 [ dbSNP | Ensembl ].
    VAR_055269
    Natural varianti398 – 3981V → E.1 Publication
    Corresponds to variant rs630612 [ dbSNP | Ensembl ].
    VAR_057989

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei163 – 409247Missing in isoform 8h. 1 PublicationVSP_037505Add
    BLAST
    Alternative sequencei163 – 313151Missing in isoform RHVIII. 1 PublicationVSP_005701Add
    BLAST
    Alternative sequencei163 – 22058Missing in isoform 8a. 1 PublicationVSP_037506Add
    BLAST
    Alternative sequencei163 – 20341TDYHM…DQRAT → DWLPGPPQHWGTQLGHRDSS HVWSPDRFAPKSQNMESTSC G in isoform 8e. 1 PublicationVSP_037507Add
    BLAST
    Alternative sequencei164 – 268105Missing in isoform RHVI and isoform 7a. 2 PublicationsVSP_005702Add
    BLAST
    Alternative sequencei204 – 417214Missing in isoform 8e. 1 PublicationVSP_037508Add
    BLAST
    Alternative sequencei212 – 384173Missing in isoform 4g. 2 PublicationsVSP_037509Add
    BLAST
    Alternative sequencei227 – 24216LLRSP…MFNTY → DRFAPKSQNMESTSCG in isoform RhPI-Alpha. 1 PublicationVSP_038405Add
    BLAST
    Alternative sequencei243 – 417175Missing in isoform RhPI-Alpha. 1 PublicationVSP_038406Add
    BLAST
    Alternative sequencei268 – 30841TYVHS…ISIGG → DWLPGPPQHWGTQLGHRDSS HVWSPDRFAPKSQNMESTSC G in isoform 2e. 1 PublicationVSP_037510Add
    BLAST
    Alternative sequencei301 – 31313Missing in isoform 8a. 1 PublicationVSP_037511Add
    BLAST
    Alternative sequencei309 – 417109Missing in isoform 2e. 1 PublicationVSP_037512Add
    BLAST
    Alternative sequencei314 – 40996Missing in isoform 1h. 1 PublicationVSP_037513Add
    BLAST
    Alternative sequencei314 – 35441VCCNR…HTVWN → DWLPGPPQHWGTQLGHRDSS HVWSPDRFAPKSQNMESTSC G in isoform RHIV. 2 PublicationsVSP_005703Add
    BLAST
    Alternative sequencei355 – 41763Missing in isoform RHIV. 2 PublicationsVSP_005704Add
    BLAST
    Alternative sequencei358 – 41760MIGFQ…LAVGF → IFLIWLLDFKQKHPRKTRPV QKQDNFLSLLPAVREKRS in isoform 1d. 1 PublicationVSP_037514Add
    BLAST
    Alternative sequencei359 – 41759IGFQV…LAVGF → FAPKSQNMESTSCG in isoform RHVI and isoform 1c. 2 PublicationsVSP_005705Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS30634.1. [P18577-4]
    CCDS30635.1. [P18577-1]
    CCDS30636.1. [P18577-3]
    CCDS30637.1. [P18577-2]
    PIRiA30405.
    I54193.
    PC2032.
    PC2033.
    S78478.
    S78479.
    S78480.
    RefSeqiNP_065231.3. NM_020485.4.
    NP_619522.3. NM_138616.3. [P18577-4]
    NP_619523.3. NM_138617.3. [P18577-3]
    NP_619524.3. NM_138618.3.
    UniGeneiHs.449968.
    Hs.523054.

    Genome annotation databases

    EnsembliENST00000294413; ENSP00000294413; ENSG00000188672.
    GeneIDi6006.
    KEGGihsa:6006.
    UCSCiuc001bkf.3. human. [P18577-1]
    uc001bkh.3. human. [P18577-3]
    uc001bki.3. human. [P18577-4]

    Polymorphism databases

    DMDMi132558.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    dbRBC/BGMUT

    Blood group antigen gene mutation database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS30634.1. [P18577-4 ]
    CCDS30635.1. [P18577-1 ]
    CCDS30636.1. [P18577-3 ]
    CCDS30637.1. [P18577-2 ]
    PIRi A30405.
    I54193.
    PC2032.
    PC2033.
    S78478.
    S78479.
    S78480.
    RefSeqi NP_065231.3. NM_020485.4.
    NP_619522.3. NM_138616.3. [P18577-4 ]
    NP_619523.3. NM_138617.3. [P18577-3 ]
    NP_619524.3. NM_138618.3.
    UniGenei Hs.449968.
    Hs.523054.

    3D structure databases

    ProteinModelPortali P18577.
    SMRi P18577. Positions 3-414.
    ModBasei Search...
    MobiDBi Search...

    Protein family/group databases

    TCDBi 1.A.11.4.3. the ammonia transporter channel (amt) family.

    PTM databases

    PhosphoSitei P18577.

    Polymorphism databases

    DMDMi 132558.

    Proteomic databases

    PaxDbi P18577.
    PRIDEi P18577.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000294413 ; ENSP00000294413 ; ENSG00000188672 .
    GeneIDi 6006.
    KEGGi hsa:6006.
    UCSCi uc001bkf.3. human. [P18577-1 ]
    uc001bkh.3. human. [P18577-3 ]
    uc001bki.3. human. [P18577-4 ]

    Organism-specific databases

    CTDi 6006.
    GeneCardsi GC01M025688.
    H-InvDB HIX0023511.
    HGNCi HGNC:10008. RHCE.
    MIMi 111690. phenotype.
    111700. gene+phenotype.
    neXtProti NX_P18577.
    Orphaneti 71275. Rh deficiency syndrome.
    PharmGKBi PA34386.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG314742.
    HOVERGENi HBG004374.
    InParanoidi P18577.
    KOi K06579.
    OrthoDBi EOG73NG3C.
    PhylomeDBi P18577.
    TreeFami TF314450.

    Miscellaneous databases

    GeneWikii RHCE_(gene).
    GenomeRNAii 6006.
    NextBioi 23427.
    PROi P18577.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P18577.
    Bgeei P18577.
    CleanExi HS_RHCE.
    Genevestigatori P18577.

    Family and domain databases

    Gene3Di 1.10.3430.10. 1 hit.
    InterProi IPR029020. Ammonium/urea_transptr.
    IPR024041. NH4_transpt_AmtB-like_dom.
    IPR002229. RhesusRHD.
    [Graphical view ]
    Pfami PF00909. Ammonium_transp. 1 hit.
    [Graphical view ]
    PRINTSi PR00342. RHESUSRHD.
    SUPFAMi SSF111352. SSF111352. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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. 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.
      , 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.

    Entry informationi

    Entry nameiRHCE_HUMAN
    AccessioniPrimary (citable) accession number: P18577
    Secondary accession number(s): A7DW68
    , 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 historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1990
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 134 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Blood group antigen proteins
      Nomenclature of blood group antigens and list of entries
    2. Human cell differentiation molecules
      CD nomenclature of surface proteins of human leucocytes and list of entries
    3. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    4. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    5. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    6. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3