Reviewed, UniProtKB/Swiss-Prot Q02161 (RHD_HUMAN)

Names and origin

Protein names

Recommended name:
    Blood group Rh(D) polypeptide
Alternative name(s):
    Rhesus D antigen
    RHXIII
    Rh polypeptide 2
    RhPII
    CD_antigen=CD240D

Gene names

Name:

RHD

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › 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.
Polymorphism	RHD and RHCE are responsible for the Rh blood group system. The molecular basis of the Tar=Rh40 blood group antigen is a polymorphism in position 110.
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
Molecular function	Blood group antigen
Technical term	Direct protein sequencing
Gene Ontology (GO)
Cellular component	integral to plasma membrane Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q02161-1)

Also known as: Long;

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 2 (identifier: Q02161-2)

Also known as: Short 1;

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

Isoform 3 (identifier: Q02161-3)

Also known as: Short 2;

The sequence of this isoform differs from the canonical sequence as follows:
     316-316: C → S
     317-417: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed
	Chain	2 – 417	416	Blood group Rh(D) polypeptide		PRO_0000168190
Regions
	Transmembrane	12 – 32	21	Potential
	Transmembrane	44 – 64	21	Potential
	Transmembrane	77 – 97	21	Potential
	Transmembrane	107 – 127	21	Potential
	Transmembrane	130 – 150	21	Potential
	Transmembrane	167 – 187	21	Potential
	Transmembrane	203 – 223	21	Potential
	Transmembrane	238 – 258	21	Potential
	Transmembrane	287 – 307	21	Potential
	Transmembrane	334 – 354	21	Potential
	Transmembrane	358 – 378	21	Potential
Natural variations
	Alternative sequence	314 – 409	96	Missing in isoform 2.		VSP_005706
	Alternative sequence	316	1	C → S in isoform 3.		VSP_005707
	Alternative sequence	317 – 417	101	Missing in isoform 3.		VSP_005708
	Natural variant	16	1	W → C: dbSNP rs586178.		VAR_034455
	Natural variant	103	1	S → C in a breast cancer sample; somatic mutation.		VAR_035615
	Natural variant	110	1	L → P in Tar antigen.		VAR_006919
	Natural variant	193	1	E → K: dbSNP rs17418091.		VAR_034456
	Natural variant	201	1	T → R: dbSNP rs17418098.		VAR_034457
	Natural variant	218	1	M → I		VAR_006920
	Natural variant	223	1	F → V in RhDVa(FK) and RhDVa(TT).		VAR_013304
	Natural variant	233	1	E → Q in RhDVa(FK), RhDVa(TO), RhDVa(TT) and RhDYo. dbSNP rs1053359.		VAR_013305
	Natural variant	238	1	V → M in RhDVa(TO) and RhDVa(TT). dbSNP rs1053360.		VAR_013306
	Natural variant	245	1	V → L in RhDVa(TT).		VAR_013307
Experimental info
	Sequence conflict	39	1	E → G in AAB26081. Ref.4
	Sequence conflict	103	1	S → P in AAB26081. Ref.4
	Sequence conflict	127	1	V → A in AAB26081. Ref.4
	Sequence conflict	174	1	V → M in AAB34852. Ref.5
	Sequence conflict	182	1	S → T in AAB26081. Ref.4
	Sequence conflict	314	1	G → V Ref.4 Ref.7
	Sequence conflict	323	1	P → H in AAB26081. Ref.4
	Sequence conflict	398	1	E → V in AAB34852. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Long) [UniParc]. Last modified January 23, 2007. Version 2. Checksum: 649F1BFA664AF7DB	FASTA	417	45,180
	10 20 30 40 50 60 MSSKYPRSVR RCLPLWALTL EAALILLFYF FTHYDASLED QKGLVASYQV GQDLTVMAAI 70 80 90 100 110 120 GLGFLTSSFR RHSWSSVAFN LFMLALGVQW AILLDGFLSQ FPSGKVVITL FSIRLATMSA 130 140 150 160 170 180 LSVLISVDAV LGKVNLAQLV VMVLVEVTAL GNLRMVISNI FNTDYHMNMM HIYVFAAYFG 190 200 210 220 230 240 LSVAWCLPKP LPEGTEDKDQ TATIPSLSAM LGALFLWMFW PSFNSALLRS PIERKNAVFN 250 260 270 280 290 300 TYYAVAVSVV TAISGSSLAH PQGKISKTYV HSAVLAGGVA VGTSCHLIPS PWLAMVLGLV 310 320 330 340 350 360 AGLISVGGAK YLPGCCNRVL GIPHSSIMGY NFSLLGLLGE IIYIVLLVLD TVGAGNGMIG 370 380 390 400 410 FQVLLSIGEL SLAIVIALTS GLLTGLLLNL KIWKAPHEAK YFDDQVFWKF PHLAVGF
	Isoform 2 (Short 1) [UniParc]. Checksum: 79E9FB671F8F84E8		321	34,837
	10 20 30 40 50 60 MSSKYPRSVR RCLPLWALTL EAALILLFYF FTHYDASLED QKGLVASYQV GQDLTVMAAI 70 80 90 100 110 120 GLGFLTSSFR RHSWSSVAFN LFMLALGVQW AILLDGFLSQ FPSGKVVITL FSIRLATMSA 130 140 150 160 170 180 LSVLISVDAV LGKVNLAQLV VMVLVEVTAL GNLRMVISNI FNTDYHMNMM HIYVFAAYFG 190 200 210 220 230 240 LSVAWCLPKP LPEGTEDKDQ TATIPSLSAM LGALFLWMFW PSFNSALLRS PIERKNAVFN 250 260 270 280 290 300 TYYAVAVSVV TAISGSSLAH PQGKISKTYV HSAVLAGGVA VGTSCHLIPS PWLAMVLGLV 310 320 AGLISVGGAK YLPFPHLAVG F
	Isoform 3 (Short 2) [UniParc]. Checksum: 4BCD39AC4813587F		316	34,215
	10 20 30 40 50 60 MSSKYPRSVR RCLPLWALTL EAALILLFYF FTHYDASLED QKGLVASYQV GQDLTVMAAI 70 80 90 100 110 120 GLGFLTSSFR RHSWSSVAFN LFMLALGVQW AILLDGFLSQ FPSGKVVITL FSIRLATMSA 130 140 150 160 170 180 LSVLISVDAV LGKVNLAQLV VMVLVEVTAL GNLRMVISNI FNTDYHMNMM HIYVFAAYFG 190 200 210 220 230 240 LSVAWCLPKP LPEGTEDKDQ TATIPSLSAM LGALFLWMFW PSFNSALLRS PIERKNAVFN 250 260 270 280 290 300 TYYAVAVSVV TAISGSSLAH PQGKISKTYV HSAVLAGGVA VGTSCHLIPS PWLAMVLGLV 310 AGLISVGGAK YLPGCS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and primary structure of the human blood group RhD polypeptide." le van Kim C., Mouro I., Cherif-Zahar B., Raynal V., Cherrier C., Cartron J.-P., Colin Y. Proc. Natl. Acad. Sci. U.S.A. 89:10925-10929(1992) [PubMed: 1438298] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Bone marrow.
[2]	"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: 1379850] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Bone marrow.
[3]	"Molecular cloning of RhD cDNA derived from a gene present in RhD-positive, but not RhD-negative individuals." Arce M.A., Thompson E.S., Wagner S., Coyne K.E., Ferdman B.A., Lublin D.M. Blood 82:651-655(1993) [PubMed: 8329718] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[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: 7916743] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[5]	"Identification of a partial internal deletion in the RH locus causing the human erythrocyte D-phenotype." Huang C.-H., Reid M.E., Chen Y. Blood 86:784-790(1995) [PubMed: 7606008] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CYS-16.
[6]	"Identification of a new RhD-specific mRNA from K562 cells." Westhoff C.M., Wylie D.E. Blood 83:3098-3100(1994) [PubMed: 8180407] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[7]	"Rh(D) antigen expression and isolation of a new Rh(D) cDNA isoform in human erythroleukemic K562 cells." Suyama K., Lunn R., Haller S., Goldstein J. Blood 84:1975-1981(1994) [PubMed: 8080999] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[8]	"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: 3146980] [Abstract] Cited for: PROTEIN SEQUENCE OF 2-33.
[9]	"Polymorphism in the Mr 32,000 Rh protein purified from Rh(D)-positive and -negative erythrocytes." Saboori A.M., Smith B.L., Agre P. Proc. Natl. Acad. Sci. U.S.A. 85:4042-4045(1988) [PubMed: 3131772] [Abstract] Cited for: PROTEIN SEQUENCE OF 2-21.
[10]	"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: 3135863] [Abstract] Cited for: PROTEIN SEQUENCE OF 2-17.
[11]	"Regarding the size of Rh proteins." Suyama K., Goldstein J., Aebersold R., Kent S. Blood 77:411-411(1991) [PubMed: 1898705] [Abstract] Cited for: PROTEIN SEQUENCE OF 401-407.
[12]	"Polymorphisms of RhDVa in Japanese." Hyodo H., Ishikawa Y., Kashiwase K., Ogawa A., Watanabe Y., Tsuneyama H., Toyoda C., Uchikawa M., Akaza T., Fujii T. Submitted (OCT-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS VAL-223; GLN-233; MET-238 AND LEU-245.
[13]	"Leu110Pro substitution in the RhD polypeptide is responsible for the DVII category blood group phenotype." Rouillac C., le van Kim C., Beolet M., Cartron J.-P., Colin Y. Am. J. Hematol. 49:87-88(1995) [PubMed: 7741145] [Abstract] Cited for: VARIANT TAR ANTIGEN PRO-110.
[14]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-103.
+	Additional computationally mapped references.

Web resources

BGMUT

Blood group antigen gene mutation database"

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	X63097 mRNA. Translation: CAA44811.1. X63094 mRNA. Translation: CAA44808.1. L08429 mRNA. Translation: AAA02679.1. S57971 mRNA. Translation: AAB26081.1. S78509 mRNA. Translation: AAB34852.1. S70174 mRNA. Translation: AAB30756.1. S73913 mRNA. Translation: AAB31911.1. AB018966 mRNA. Translation: BAA81899.1. AB018967 mRNA. Translation: BAA81900.1. AB018968 mRNA. Translation: BAA81901.1. AB018969 mRNA. Translation: BAA82159.1.
PIR	A46368. I52615.
RefSeq	NP_001121163.1. NP_057208.2.
UniGene	Hs.647623
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000187010. Homo sapiens. [Contig view]
GeneID	6007.
Organism-specific databases
H-InvDB	HIX0000271.
HGNC	HGNC:10009. RHD.
MIM	111680. gene.
PharmGKB	PA34387.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	Q02161.
Gene expression databases
ArrayExpress	Q02161.
GermOnline	ENSG00000187010. Homo sapiens.
Family and domain databases
InterPro	IPR010256. RH_like_transpt. [Graphical view]
Pfam	PF00909. Ammonium_transp. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	23439.
SOURCE	Search...

Entry information

Entry name

RHD_HUMAN

Accession

Primary (citable) accession number: Q02161
Secondary accession number(s): Q02162 , Q07618, Q16147, Q16235, Q16355, Q9NPK0, Q9UQ20, Q9UQ21, Q9UQ22, Q9UQ23

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	January 23, 2007
Last modified:	November 4, 2008
This is version 77 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)