P18577 (RHCE_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	RHCE
Synonyms:	RHC, RHE

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	417 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	Blood group antigen
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	ammonium transmembrane transport Inferred from electronic annotation. Source: GOC
Cellular_component	integral to plasma membrane Traceable author statement PubMed 1438298. Source: ProtInc
Molecular_function	ammonium 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.17 Ref.18
	Chain	2 – 417	416	Blood group Rh(CE) polypeptide		PRO_0000168189
Regions
	Transmembrane	12 – 32	21	Helical; Potential
	Transmembrane	44 – 64	21	Helical; Potential
	Transmembrane	77 – 97	21	Helical; Potential
	Transmembrane	125 – 145	21	Helical; Potential
	Transmembrane	172 – 192	21	Helical; Potential
	Transmembrane	203 – 223	21	Helical; Potential
	Transmembrane	238 – 258	21	Helical; Potential
	Transmembrane	265 – 285	21	Helical; Potential
	Transmembrane	287 – 307	21	Helical; Potential
	Transmembrane	331 – 351	21	Helical; Potential
	Transmembrane	358 – 378	21	Helical; Potential
Natural variations
	Alternative sequence	163 – 409	247	Missing in isoform 8h.		VSP_037505
	Alternative sequence	163 – 313	151	Missing in isoform RHVIII.		VSP_005701
	Alternative sequence	163 – 220	58	Missing in isoform 8a.		VSP_037506
	Alternative sequence	163 – 203	41	TDYHM…DQRAT → DWLPGPPQHWGTQLGHRDSS HVWSPDRFAPKSQNMESTSC G in isoform 8e.		VSP_037507
	Alternative sequence	164 – 268	105	Missing in isoform RHVI and isoform 7a.		VSP_005702
	Alternative sequence	204 – 417	214	Missing in isoform 8e.		VSP_037508
	Alternative sequence	212 – 384	173	Missing in isoform 4g.		VSP_037509
	Alternative sequence	227 – 242	16	LLRSP…MFNTY → DRFAPKSQNMESTSCG in isoform RhPI-Alpha.		VSP_038405
	Alternative sequence	243 – 417	175	Missing in isoform RhPI-Alpha.		VSP_038406
	Alternative sequence	268 – 308	41	TYVHS…ISIGG → DWLPGPPQHWGTQLGHRDSS HVWSPDRFAPKSQNMESTSC G in isoform 2e.		VSP_037510
	Alternative sequence	301 – 313	13	Missing in isoform 8a.		VSP_037511
	Alternative sequence	309 – 417	109	Missing in isoform 2e.		VSP_037512
	Alternative sequence	314 – 409	96	Missing in isoform 1h.		VSP_037513
	Alternative sequence	314 – 354	41	VCCNR…HTVWN → DWLPGPPQHWGTQLGHRDSS HVWSPDRFAPKSQNMESTSC G in isoform RHIV.		VSP_005703
	Alternative sequence	355 – 417	63	Missing in isoform RHIV.		VSP_005704
	Alternative sequence	358 – 417	60	MIGFQ…LAVGF → IFLIWLLDFKQKHPRKTRPV QKQDNFLSLLPAVREKRS in isoform 1d.		VSP_037514
	Alternative sequence	359 – 417	59	IGFQV…LAVGF → FAPKSQNMESTSCG in isoform RHVI and isoform 1c.		VSP_005705
	Natural variant	16	1	W → 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 variant	36	1	A → T in C(X)/Rh9 antigen.		VAR_006912
	Natural variant	41	1	Q → R in C(W)/Rh8 antigen.		VAR_006913
	Natural variant	60	1	L → I. Ref.6 Ref.8 Ref.10 Ref.12 Ref.13 Ref.15		VAR_006914
	Natural variant	68	1	N → S. Ref.6 Ref.8 Ref.10 Ref.12 Ref.13 Ref.15 Corresponds to variant rs1053344 [ dbSNP | Ensembl ].		VAR_006915
	Natural variant	103	1	P → 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 variant	127	1	A → V. Ref.6 Corresponds to variant rs1053346 [ dbSNP | Ensembl ].		VAR_055260
	Natural variant	128	1	G → D. Ref.6 Corresponds to variant rs1053347 [ dbSNP | Ensembl ].		VAR_055261
	Natural variant	154	1	R → T in RhEKH. Ref.6		VAR_013301
	Natural variant	182	1	T → S. Corresponds to variant rs1053350 [ dbSNP | Ensembl ].		VAR_055262
	Natural variant	198	1	N → K. Corresponds to variant rs1053354 [ dbSNP | Ensembl ].		VAR_055263
	Natural variant	226	1	P → 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 variant	233	1	Q → E in RhEFM. Ref.6 Ref.9		VAR_013302
	Natural variant	238	1	M → V in RhEFM. Ref.6 Ref.7		VAR_013303
	Natural variant	245	1	L → V in VS antigen. Ref.7 Ref.9 Corresponds to variant rs1053361 [ dbSNP | Ensembl ].		VAR_006918
	Natural variant	263	1	R → G. Ref.7 Corresponds to variant rs1132763 [ dbSNP | Ensembl ].		VAR_057987
	Natural variant	267	1	M → K. Ref.7 Ref.13 Corresponds to variant rs1132764 [ dbSNP | Ensembl ].		VAR_057988
	Natural variant	323	1	H → P. Corresponds to variant rs1053366 [ dbSNP | Ensembl ].		VAR_055264
	Natural variant	325	1	I → S. Corresponds to variant rs1053367 [ dbSNP | Ensembl ].		VAR_055265
	Natural variant	329	1	H → D. Corresponds to variant rs1053370 [ dbSNP | Ensembl ].		VAR_055266
	Natural variant	329	1	H → R. Corresponds to variant rs1053371 [ dbSNP | Ensembl ].		VAR_055267
	Natural variant	330	1	S → Y. Corresponds to variant rs1053372 [ dbSNP | Ensembl ].		VAR_055268
	Natural variant	331	1	I → N. Corresponds to variant rs1053373 [ dbSNP | Ensembl ].		VAR_055269
	Natural variant	398	1	V → E. Ref.12 Corresponds to variant rs630612 [ dbSNP | Ensembl ].		VAR_057989
Experimental info
	Sequence conflict	10	1	R → W in ACK75562. Ref.13
	Sequence conflict	12	1	C → L AA sequence Ref.18
	Sequence conflict	53	1	D → G in CAA44812. Ref.3
	Sequence conflict	61	1	G → C in CAA44812. Ref.3
	Sequence conflict	114	1	R → W in AAN75123. Ref.7
	Sequence conflict	115	1	L → P in ACK75563. Ref.13
	Sequence conflict	115	1	L → P in ACK75565. Ref.13
	Sequence conflict	121	1	M → L in BAB16597. Ref.6
	Sequence conflict	121	1	M → L in BAA82627. Ref.6
	Sequence conflict	122	1	S → P in ACK75564. Ref.13
	Sequence conflict	125	1	I → N in ACK75565. Ref.13
	Sequence conflict	152	1	T → N in BAB16597. Ref.6
	Sequence conflict	152	1	T → N in BAA82627. Ref.6
	Sequence conflict	155	1	M → V in AAT35811. Ref.8
	Sequence conflict	166	1	H → L in ACK75566. Ref.13
	Sequence conflict	169	1	L → Q in ACK75567. Ref.13
	Sequence conflict	201	1	R → T in ACK75568. Ref.13
	Sequence conflict	217	1	W → R in ACK75569. Ref.13
	Sequence conflict	241	1	T → I in ACK75570. Ref.13
	Sequence conflict	250	1	V → M in AAN75124. Ref.7
	Sequence conflict	273	1	A → V in AAN75122. Ref.7
	Sequence conflict	303	1	L → Q in ACK75572. Ref.13
	Sequence conflict	378	1	L → V in AAN75122. Ref.7
	Sequence conflict	408 – 409	2	WK → DI AA sequence Ref.21

Sequences

	Sequence		Length	Mass (Da)
	Isoform RHI [UniParc]. Last modified January 23, 2007. Version 2. Checksum: 29D33E778D9053DF	FASTA	417	45,560
	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
	Isoform RHIV (1e) [UniParc]. Checksum: 2ED52E5FF2B9085D	FASTA	354	38,698
	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 AGLISIGGAK CLPDWLPGPP QHWGTQLGHR DSSHVWSPDR FAPKSQNMES TSCG
	Isoform RHVI (7c) [UniParc]. Checksum: BEF2BF74DCF531E1	FASTA	267	28,702
	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 FNTYVHSAVL AGGVAVGTSC 190 200 210 220 230 240 HLIPSPWLAM VLGLVAGLIS IGGAKCLPVC CNRVLGIHHI SVMHSIFSLL GLLGEITYIV 250 260 LLVLHTVWNG NGMFAPKSQN MESTSCG
	Isoform RHVIII [UniParc]. Checksum: 728E70D6F0CEB46A	FASTA	266	29,256
	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 FNVCCNRVLG IHHISVMHSI 190 200 210 220 230 240 FSLLGLLGEI TYIVLLVLHT VWNGNGMIGF QVLLSIGELS LAIVIALTSG LLTGLLLNLK 250 260 IWKAPHVAKY FDDQVFWKFP HLAVGF
	Isoform 1c [UniParc]. Checksum: B3B22D8C3FD0E07B	FASTA	372	40,523
	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 TVWNGNGMFA 370 PKSQNMESTS CG
	Isoform 1d [UniParc]. Checksum: EFABE59673D8AD25	FASTA	395	43,553
	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 TVWNGNGIFL 370 380 390 IWLLDFKQKH PRKTRPVQKQ DNFLSLLPAV REKRS
	Isoform 1h [UniParc]. Checksum: E2A4BE357967545A	FASTA	321	34,967
	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 AGLISIGGAK CLPFPHLAVG F
	Isoform 2e [UniParc]. Checksum: 3B4E7B35E439386C	FASTA	308	34,215
	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 PQRKISMDWL PGPPQHWGTQ LGHRDSSHVW SPDRFAPKSQ NMESTSCG
	Isoform 4g (RhPI-Beta) [UniParc]. Checksum: D33E72E9B94F1D08	FASTA	244	27,259
	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 LGLLLNLKIW KAPHVAKYFD DQVFWKFPHL AVGF
	Isoform 7a [UniParc]. Checksum: C852D699223E9A22	FASTA	312	33,739
	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 FNTYVHSAVL AGGVAVGTSC 190 200 210 220 230 240 HLIPSPWLAM VLGLVAGLIS IGGAKCLPVC CNRVLGIHHI SVMHSIFSLL GLLGEITYIV 250 260 270 280 290 300 LLVLHTVWNG NGMIGFQVLL SIGELSLAIV IALTSGLLTG LLLNLKIWKA PHVAKYFDDQ 310 VFWKFPHLAV GF
	Isoform 8a [UniParc]. Checksum: B72694FC03CA96A1	FASTA	346	37,643
	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 FNPSVNSPLL RSPIQRKNAM 190 200 210 220 230 240 FNTYYALAVS VVTAISGSSL AHPQRKISMT YVHSAVLAGG VAVGTSCHLI PSPWLAMVLG 250 260 270 280 290 300 LVVCCNRVLG IHHISVMHSI FSLLGLLGEI TYIVLLVLHT VWNGNGMIGF QVLLSIGELS 310 320 330 340 LAIVIALTSG LLTGLLLNLK IWKAPHVAKY FDDQVFWKFP HLAVGF
	Isoform 8e [UniParc]. Checksum: F219A5EB7706D655	FASTA	203	22,394
	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 FNDWLPGPPQ HWGTQLGHRD 190 200 SSHVWSPDRF APKSQNMEST SCG
	Isoform 8h [UniParc]. Checksum: 8187115F3B54081F	FASTA	170	18,663
	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 MSVLISAGAV LGKVNLAQLV VMVLVEVTAL GTLRMVISNI FNFPHLAVGF
	Isoform RhPI-Alpha [UniParc]. Checksum: E6EA91C2781C2782	FASTA	242	26,852
	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 PSVNSPDRFA PKSQNMESTS CG

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00221016. IPI00465155. IPI00719561. IPI00827862. IPI00879775. IPI00930054. IPI00930155. IPI00930250. IPI00930255. IPI00930293. IPI00930477. IPI00930574. IPI00953959. IPI00973347.
PIR	A30405. I54193. PC2032. PC2033. S78478. S78479. S78480.
RefSeq	NP_065231.3. NM_020485.4. NP_619522.3. NM_138616.3. NP_619523.3. NM_138617.3. NP_619524.3. NM_138618.3.
UniGene	Hs.449968. Hs.523054.
3D structure databases
ProteinModelPortal	P18577.
SMR	P18577. Positions 3-414.
ModBase	Search...
Protein family/group databases
TCDB	1.A.11.4.3. ammonia transporter channel (Amt) family.
PTM databases
PhosphoSite	P18577.
Polymorphism databases
DMDM	132558.
Proteomic databases
PaxDb	P18577.
PRIDE	P18577.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000294413; ENSP00000294413; ENSG00000188672.
GeneID	6006.
KEGG	hsa:6006.
UCSC	uc001bkf.3. human. uc001bkh.3. human. uc001bki.3. human.
Organism-specific databases
CTD	6006.
GeneCards	GC01M025688.
H-InvDB	HIX0023511.
HGNC	HGNC:10008. RHCE.
MIM	111690. phenotype. 111700. gene+phenotype.
neXtProt	NX_P18577.
Orphanet	71275. Rh deficiency syndrome.
PharmGKB	PA34386.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG314742.
HOVERGEN	HBG004374.
InParanoid	P18577.
KO	K06579.
Gene expression databases
ArrayExpress	P18577.
Bgee	P18577.
CleanEx	HS_RHCE.
Genevestigator	P18577.
GermOnline	ENSG00000188672. Homo sapiens.
Family and domain databases
InterPro	IPR024041. NH4_transpt_AmtB-like_dom. IPR002229. RhesusRHD. [Graphical view]
Pfam	PF00909. Ammonium_transp. 1 hit. [Graphical view]
PRINTS	PR00342. RHESUSRHD.
SUPFAM	SSF111352. RH_like_transpt. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	6006.
NextBio	23427.
SOURCE	Search...

Entry information

Entry name

RHCE_HUMAN

Accession

Primary (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 history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1990
Last sequence update:	January 23, 2007
Last modified:	April 3, 2013
This is version 122 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.