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Protein

Blood group Rh(CE) polypeptide

Gene

RHCE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Biological processi

Keywordsi

Molecular functionBlood group antigen

Protein family/group databases

TCDBi1.A.11.4.3 the ammonium 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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000188672.16
HGNCiHGNC:10008 RHCE
MIMi111700 gene+phenotype
neXtProtiNX_P18577

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei12 – 32HelicalSequence analysisAdd BLAST21
Transmembranei44 – 64HelicalSequence analysisAdd BLAST21
Transmembranei77 – 97HelicalSequence analysisAdd BLAST21
Transmembranei125 – 145HelicalSequence analysisAdd BLAST21
Transmembranei172 – 192HelicalSequence analysisAdd BLAST21
Transmembranei203 – 223HelicalSequence analysisAdd BLAST21
Transmembranei238 – 258HelicalSequence analysisAdd BLAST21
Transmembranei265 – 285HelicalSequence analysisAdd BLAST21
Transmembranei287 – 307HelicalSequence analysisAdd BLAST21
Transmembranei331 – 351HelicalSequence analysisAdd BLAST21
Transmembranei358 – 378HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi6006
MalaCardsiRHCE
MIMi111690 phenotype
111700 gene+phenotype
Orphaneti71275 Rh deficiency syndrome
PharmGKBiPA34386

Polymorphism and mutation databases

BioMutaiRHCE
DMDMi132558

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved2 Publications
ChainiPRO_00001681892 – 417Blood group Rh(CE) polypeptideAdd BLAST416

Proteomic databases

PaxDbiP18577
PeptideAtlasiP18577
PRIDEiP18577

PTM databases

iPTMnetiP18577
PhosphoSitePlusiP18577

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

BgeeiENSG00000188672
CleanExiHS_RHCE
ExpressionAtlasiP18577 baseline and differential
GenevisibleiP18577 HS

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000294413

Structurei

3D structure databases

ProteinModelPortaliP18577
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3796 Eukaryota
ENOG410XTF8 LUCA
HOVERGENiHBG004374
InParanoidiP18577
KOiK06579
OrthoDBiEOG091G06KX
PhylomeDBiP18577
TreeFamiTF314450

Family and domain databases

Gene3Di1.10.3430.10, 1 hit
InterProiView protein in InterPro
IPR029020 Ammonium/urea_transptr
IPR024041 NH4_transpt_AmtB-like_dom
IPR002229 RhesusRHD
PfamiView protein in Pfam
PF00909 Ammonium_transp, 1 hit
PRINTSiPR00342 RHESUSRHD

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. AlignAdd to basket

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

        10         20         30         40         50
MSSKYPRSVR RCLPLWALTL EAALILLFYF FTHYDASLED QKGLVASYQV
60 70 80 90 100
GQDLTVMAAL GLGFLTSNFR RHSWSSVAFN LFMLALGVQW AILLDGFLSQ
110 120 130 140 150
FPPGKVVITL FSIRLATMSA MSVLISAGAV LGKVNLAQLV VMVLVEVTAL
160 170 180 190 200
GTLRMVISNI FNTDYHMNLR HFYVFAAYFG LTVAWCLPKP LPKGTEDNDQ
210 220 230 240 250
RATIPSLSAM LGALFLWMFW PSVNSPLLRS PIQRKNAMFN TYYALAVSVV
260 270 280 290 300
TAISGSSLAH PQRKISMTYV HSAVLAGGVA VGTSCHLIPS PWLAMVLGLV
310 320 330 340 350
AGLISIGGAK CLPVCCNRVL GIHHISVMHS IFSLLGLLGE ITYIVLLVLH
360 370 380 390 400
TVWNGNGMIG FQVLLSIGEL SLAIVIALTS GLLTGLLLNL KIWKAPHVAK
410
YFDDQVFWKF PHLAVGF
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)DescriptionActionsGraphical viewLength
Sequence conflicti10R → W in ACK75562 (Ref. 13) Curated1
Sequence conflicti12C → L AA sequence (PubMed:3135863).Curated1
Sequence conflicti53D → G in CAA44812 (PubMed:1379850).Curated1
Sequence conflicti61G → C in CAA44812 (PubMed:1379850).Curated1
Sequence conflicti114R → W in AAN75123 (PubMed:12393640).Curated1
Sequence conflicti115L → P in ACK75563 (Ref. 13) Curated1
Sequence conflicti115L → P in ACK75565 (Ref. 13) Curated1
Sequence conflicti121M → L in BAB16597 (PubMed:11724987).Curated1
Sequence conflicti121M → L in BAA82627 (PubMed:11724987).Curated1
Sequence conflicti122S → P in ACK75564 (Ref. 13) Curated1
Sequence conflicti125I → N in ACK75565 (Ref. 13) Curated1
Sequence conflicti152T → N in BAB16597 (PubMed:11724987).Curated1
Sequence conflicti152T → N in BAA82627 (PubMed:11724987).Curated1
Sequence conflicti155M → V in AAT35811 (Ref. 8) Curated1
Sequence conflicti166H → L in ACK75566 (Ref. 13) Curated1
Sequence conflicti169L → Q in ACK75567 (Ref. 13) Curated1
Sequence conflicti201R → T in ACK75568 (Ref. 13) Curated1
Sequence conflicti217W → R in ACK75569 (Ref. 13) Curated1
Sequence conflicti241T → I in ACK75570 (Ref. 13) Curated1
Sequence conflicti250V → M in AAN75124 (PubMed:12393640).Curated1
Sequence conflicti273A → V in AAN75122 (PubMed:12393640).Curated1
Sequence conflicti303L → Q in ACK75572 (Ref. 13) Curated1
Sequence conflicti378L → V in AAN75122 (PubMed:12393640).Curated1
Sequence conflicti408 – 409WK → DI AA sequence (PubMed:1898705).Curated2

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_00691116W → C Associated with altered expression of E antigen. 10 Publications1
Natural variantiVAR_00691236A → T in C(X)/Rh9 antigen. 1
Natural variantiVAR_00691341Q → R in C(W)/Rh8 antigen. Corresponds to variant dbSNP:rs138268848Ensembl.1
Natural variantiVAR_00691460L → I6 PublicationsCorresponds to variant dbSNP:rs181860403EnsemblClinVar.1
Natural variantiVAR_00691568N → S6 PublicationsCorresponds to variant dbSNP:rs1053344Ensembl.1
Natural variantiVAR_006916103P → S in C/Rh2 antigen. 6 PublicationsCorresponds to variant dbSNP:rs676785EnsemblClinVar.1
Natural variantiVAR_055260127A → V1 PublicationCorresponds to variant dbSNP:rs1053346Ensembl.1
Natural variantiVAR_055261128G → D1 PublicationCorresponds to variant dbSNP:rs1053347Ensembl.1
Natural variantiVAR_013301154R → T Found in antigen RhEKH. 1 Publication1
Natural variantiVAR_055262182T → S. Corresponds to variant dbSNP:rs1053350Ensembl.1
Natural variantiVAR_055263198N → K. Corresponds to variant dbSNP:rs1053354Ensembl.1
Natural variantiVAR_006917226P → A in E/Rh5 antigen. 10 PublicationsCorresponds to variant dbSNP:rs609320Ensembl.1
Natural variantiVAR_013302233Q → E Found in antigen RhEFM. 2 Publications1
Natural variantiVAR_013303238M → V Found in antigen RhEFM. 2 PublicationsCorresponds to variant dbSNP:rs144163296Ensembl.1
Natural variantiVAR_006918245L → V in VS antigen. 2 PublicationsCorresponds to variant dbSNP:rs1053361Ensembl.1
Natural variantiVAR_057987263R → G1 PublicationCorresponds to variant dbSNP:rs1132763Ensembl.1
Natural variantiVAR_057988267M → K2 PublicationsCorresponds to variant dbSNP:rs1132764Ensembl.1
Natural variantiVAR_055264323H → P. Corresponds to variant dbSNP:rs1053366Ensembl.1
Natural variantiVAR_055265325I → S. Corresponds to variant dbSNP:rs1053367Ensembl.1
Natural variantiVAR_055266329H → D. Corresponds to variant dbSNP:rs1053370Ensembl.1
Natural variantiVAR_055267329H → R. Corresponds to variant dbSNP:rs1053371Ensembl.1
Natural variantiVAR_055268330S → Y. Corresponds to variant dbSNP:rs1053372Ensembl.1
Natural variantiVAR_055269331I → N. Corresponds to variant dbSNP:rs1053373Ensembl.1
Natural variantiVAR_057989398V → E1 PublicationCorresponds to variant dbSNP:rs630612Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_037505163 – 409Missing in isoform 8h. 1 PublicationAdd BLAST247
Alternative sequenceiVSP_005701163 – 313Missing in isoform RHVIII. 1 PublicationAdd BLAST151
Alternative sequenceiVSP_037506163 – 220Missing in isoform 8a. 1 PublicationAdd BLAST58
Alternative sequenceiVSP_037507163 – 203TDYHM…DQRAT → DWLPGPPQHWGTQLGHRDSS HVWSPDRFAPKSQNMESTSC G in isoform 8e. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_005702164 – 268Missing in isoform RHVI and isoform 7a. 2 PublicationsAdd BLAST105
Alternative sequenceiVSP_037508204 – 417Missing in isoform 8e. 1 PublicationAdd BLAST214
Alternative sequenceiVSP_037509212 – 384Missing in isoform 4g. 2 PublicationsAdd BLAST173
Alternative sequenceiVSP_038405227 – 242LLRSP…MFNTY → DRFAPKSQNMESTSCG in isoform RhPI-Alpha. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_038406243 – 417Missing in isoform RhPI-Alpha. 1 PublicationAdd BLAST175
Alternative sequenceiVSP_037510268 – 308TYVHS…ISIGG → DWLPGPPQHWGTQLGHRDSS HVWSPDRFAPKSQNMESTSC G in isoform 2e. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_037511301 – 313Missing in isoform 8a. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_037512309 – 417Missing in isoform 2e. 1 PublicationAdd BLAST109
Alternative sequenceiVSP_037513314 – 409Missing in isoform 1h. 1 PublicationAdd BLAST96
Alternative sequenceiVSP_005703314 – 354VCCNR…HTVWN → DWLPGPPQHWGTQLGHRDSS HVWSPDRFAPKSQNMESTSC G in isoform RHIV. 2 PublicationsAdd BLAST41
Alternative sequenceiVSP_005704355 – 417Missing in isoform RHIV. 2 PublicationsAdd BLAST63
Alternative sequenceiVSP_037514358 – 417MIGFQ…LAVGF → IFLIWLLDFKQKHPRKTRPV QKQDNFLSLLPAVREKRS in isoform 1d. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_005705359 – 417IGFQV…LAVGF → FAPKSQNMESTSCG in isoform RHVI and isoform 1c. 2 PublicationsAdd BLAST59

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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 Genomic DNA No translation available.
AL928711 Genomic DNA No translation available.
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]
CCDS81283.1 [P18577-5]
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]
UniGeneiHs.449968
Hs.523054

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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 historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: January 23, 2007
Last modified: May 23, 2018
This is version 160 of the entry and version 2 of the sequence. See 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
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Main funding by: National Institutes of Health