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Reviewed, UniProtKB/Swiss-Prot Q02161 (RHD_HUMAN)

Last modified November 4, 2008. Version 77. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Blood group Rh(D) polypeptide
Alternative name(s):
    Rhesus D antigen
    RHXIII
    Rh polypeptide 2
    RhPII
    CD_antigen=CD240D
Gene names
Name: RHD
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length417 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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 componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
   Molecular functionBlood group antigen
   Technical termDirect protein sequencing

Gene Ontology (GO)

   Cellular componentintegral 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed
Chain2 – 417416Blood group Rh(D) polypeptide
PRO_0000168190

Regions

Transmembrane12 – 3221 Potential
Transmembrane44 – 6421 Potential
Transmembrane77 – 9721 Potential
Transmembrane107 – 12721 Potential
Transmembrane130 – 15021 Potential
Transmembrane167 – 18721 Potential
Transmembrane203 – 22321 Potential
Transmembrane238 – 25821 Potential
Transmembrane287 – 30721 Potential
Transmembrane334 – 35421 Potential
Transmembrane358 – 37821 Potential

Natural variations

Alternative sequence314 – 40996Missing in isoform 2.
VSP_005706
Alternative sequence3161C → S in isoform 3.
VSP_005707
Alternative sequence317 – 417101Missing in isoform 3.
VSP_005708
Natural variant161W → C: dbSNP rs586178.
VAR_034455
Natural variant1031S → C in a breast cancer sample; somatic mutation.
VAR_035615
Natural variant1101L → P in Tar antigen.
VAR_006919
Natural variant1931E → K: dbSNP rs17418091.
VAR_034456
Natural variant2011T → R: dbSNP rs17418098.
VAR_034457
Natural variant2181M → I
VAR_006920
Natural variant2231F → V in RhDVa(FK) and RhDVa(TT).
VAR_013304
Natural variant2331E → Q in RhDVa(FK), RhDVa(TO), RhDVa(TT) and RhDYo. dbSNP rs1053359.
VAR_013305
Natural variant2381V → M in RhDVa(TO) and RhDVa(TT). dbSNP rs1053360.
VAR_013306
Natural variant2451V → L in RhDVa(TT).
VAR_013307

Experimental info

Sequence conflict391E → G in AAB26081. Ref.4
Sequence conflict1031S → P in AAB26081. Ref.4
Sequence conflict1271V → A in AAB26081. Ref.4
Sequence conflict1741V → M in AAB34852. Ref.5
Sequence conflict1821S → T in AAB26081. Ref.4
Sequence conflict3141G → V Ref.4 Ref.7
Sequence conflict3231P → H in AAB26081. Ref.4
Sequence conflict3981E → V in AAB34852. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Long) [UniParc].

Last modified January 23, 2007. Version 2.
Checksum: 649F1BFA664AF7DB

FASTA41745,180
        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 

« Hide

Isoform 2 (Short 1) [UniParc].

Checksum: 79E9FB671F8F84E8
Show »

32134,837
Isoform 3 (Short 2) [UniParc].

Checksum: 4BCD39AC4813587F
Show »

31634,215

References

« Hide '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. expand/collapse author list , 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

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.
PIRA46368.
I52615.
RefSeqNP_001121163.1.
NP_057208.2.
UniGeneHs.647623

3D structure databases

ModBaseSearch...

Genome annotation databases

EnsemblENSG00000187010. Homo sapiens. [Contig view]
GeneID6007.

Organism-specific databases

H-InvDBHIX0000271.
HGNCHGNC:10009. RHD.
MIM111680. gene.
PharmGKBPA34387.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOVERGENQ02161.

Gene expression databases

ArrayExpressQ02161.
GermOnlineENSG00000187010. Homo sapiens.

Family and domain databases

InterProIPR010256. RH_like_transpt.
[Graphical view]
PfamPF00909. Ammonium_transp. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio23439.
SOURCESearch...

Entry information

Entry nameRHD_HUMAN
AccessionPrimary (citable) accession number: Q02161
Secondary accession number(s): Q02162 expand/collapse secondary AC list , 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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Blood group antigen proteins

Nomenclature of blood group antigens and list of entries

Human cell differentiation molecules

CD nomenclature of surface proteins of human leucocytes and list of entries

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents