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P18577

- RHCE_HUMAN

UniProt

P18577 - RHCE_HUMAN

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Protein
Blood group Rh(CE) polypeptide
Gene
RHCE, RHC, RHE
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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

  1. ammonium transmembrane transporter activity Source: InterPro
Complete GO annotation...

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

Topology

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

GO - Cellular componenti

  1. integral component of plasma membrane Source: ProtInc
Complete GO annotation...

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) polypeptide
PRO_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.

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

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.
VSP_037505Add
BLAST
Alternative sequencei163 – 313151Missing in isoform RHVIII.
VSP_005701Add
BLAST
Alternative sequencei163 – 22058Missing in isoform 8a.
VSP_037506Add
BLAST
Alternative sequencei163 – 20341TDYHM…DQRAT → DWLPGPPQHWGTQLGHRDSS HVWSPDRFAPKSQNMESTSC G in isoform 8e.
VSP_037507Add
BLAST
Alternative sequencei164 – 268105Missing in isoform RHVI and isoform 7a.
VSP_005702Add
BLAST
Alternative sequencei204 – 417214Missing in isoform 8e.
VSP_037508Add
BLAST
Alternative sequencei212 – 384173Missing in isoform 4g.
VSP_037509Add
BLAST
Alternative sequencei227 – 24216LLRSP…MFNTY → DRFAPKSQNMESTSCG in isoform RhPI-Alpha.
VSP_038405Add
BLAST
Alternative sequencei243 – 417175Missing in isoform RhPI-Alpha.
VSP_038406Add
BLAST
Alternative sequencei268 – 30841TYVHS…ISIGG → DWLPGPPQHWGTQLGHRDSS HVWSPDRFAPKSQNMESTSC G in isoform 2e.
VSP_037510Add
BLAST
Alternative sequencei301 – 31313Missing in isoform 8a.
VSP_037511Add
BLAST
Alternative sequencei309 – 417109Missing in isoform 2e.
VSP_037512Add
BLAST
Alternative sequencei314 – 40996Missing in isoform 1h.
VSP_037513Add
BLAST
Alternative sequencei314 – 35441VCCNR…HTVWN → DWLPGPPQHWGTQLGHRDSS HVWSPDRFAPKSQNMESTSC G in isoform RHIV.
VSP_005703Add
BLAST
Alternative sequencei355 – 41763Missing in isoform RHIV.
VSP_005704Add
BLAST
Alternative sequencei358 – 41760MIGFQ…LAVGF → IFLIWLLDFKQKHPRKTRPV QKQDNFLSLLPAVREKRS in isoform 1d.
VSP_037514Add
BLAST
Alternative sequencei359 – 41759IGFQV…LAVGF → FAPKSQNMESTSCG in isoform RHVI and isoform 1c.
VSP_005705Add
BLAST

Sequence conflict

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

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 133 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

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