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UniProtKB/Swiss-Prot entry Q02161


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name RHD_HUMAN
Primary accession number Q02161
Secondary accession numbers Q02162 Q07618 Q16147 Q16235 Q16355 Q9NPK0 Q9UQ20 Q9UQ21 Q9UQ22 Q9UQ23
Integrated into Swiss-Prot on November 1, 1997
Sequence was last modified on January 23, 2007 (Sequence version 2)
Annotations were last modified on    September 23, 2008 (Entry version 76)
Name and origin of the protein
Protein name Blood group Rh(D) polypeptide
Synonyms Rhesus D antigen
RHXIII
Rh polypeptide 2
RhPII
CD240D antigen
Gene name
Name: RHD
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Bone marrow;
PubMed=1438298 [NCBI, ExPASy, EBI, Israel, Japan]
le van Kim C., Mouro I., Cherif-Zahar B., Raynal V., Cherrier C., Cartron J.-P., Colin Y.;
"Molecular cloning and primary structure of the human blood group RhD polypeptide.";
Proc. Natl. Acad. Sci. U.S.A. 89:10925-10929(1992).
[2]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Bone marrow;
PubMed=1379850 [NCBI, ExPASy, EBI, Israel, Japan]
le van Kim C., Cherif-Zahar B., Raynal V., Mouro I., Lopez M., Cartron J.-P., Colin Y.;
"Multiple Rh messenger RNA isoforms are produced by alternative splicing.";
Blood 80:1074-1078(1992).
[3]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=8329718 [NCBI, ExPASy, EBI, Israel, Japan]
Arce M.A., Thompson E.S., Wagner S., Coyne K.E., Ferdman B.A., Lublin D.M.;
"Molecular cloning of RhD cDNA derived from a gene present in RhD-positive, but not RhD-negative individuals.";
Blood 82:651-655(1993).
[4]
NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1007/BF00222717; PubMed=7916743 [NCBI, ExPASy, EBI, Israel, Japan]
Kajii E., Umenishi F., Iwamoto S., Ikemoto S.;
"Isolation of a new cDNA clone encoding an Rh polypeptide associated with the Rh blood group system.";
Hum. Genet. 91:157-162(1993).
[5]
NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT CYS-16.
PubMed=7606008 [NCBI, ExPASy, EBI, Israel, Japan]
Huang C.-H., Reid M.E., Chen Y.;
"Identification of a partial internal deletion in the RH locus causing the human erythrocyte D-phenotype.";
Blood 86:784-790(1995).
[6]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
PubMed=8180407 [NCBI, ExPASy, EBI, Israel, Japan]
Westhoff C.M., Wylie D.E.;
"Identification of a new RhD-specific mRNA from K562 cells.";
Blood 83:3098-3100(1994).
[7]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
PubMed=8080999 [NCBI, ExPASy, EBI, Israel, Japan]
Suyama K., Lunn R., Haller S., Goldstein J.;
"Rh(D) antigen expression and isolation of a new Rh(D) cDNA isoform in human erythroleukemic K562 cells.";
Blood 84:1975-1981(1994).
[8]
PROTEIN SEQUENCE OF 2-33.
PubMed=3146980 [NCBI, ExPASy, EBI, Israel, Japan]
Avent N.D., Ridgwell K., Mawby W.J., Tanner M.J.A., Anstee D.J., Kumpel B.;
"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.";
Biochem. J. 256:1043-1046(1988).
[9]
PROTEIN SEQUENCE OF 2-21.
PubMed=3131772 [NCBI, ExPASy, EBI, Israel, Japan]
Saboori A.M., Smith B.L., Agre P.;
"Polymorphism in the Mr 32,000 Rh protein purified from Rh(D)-positive and -negative erythrocytes.";
Proc. Natl. Acad. Sci. U.S.A. 85:4042-4045(1988).
[10]
PROTEIN SEQUENCE OF 2-17.
PubMed=3135863 [NCBI, ExPASy, EBI, Israel, Japan]
Bloy C., Blanchard D., Dahr W., Beyreuther K., Salmon C., Cartron J.-P.;
"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.";
Blood 72:661-666(1988).
[11]
PROTEIN SEQUENCE OF 401-407.
PubMed=1898705 [NCBI, ExPASy, EBI, Israel, Japan]
Suyama K., Goldstein J., Aebersold R., Kent S.;
"Regarding the size of Rh proteins.";
Blood 77:411-411(1991).
[12]
NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS VAL-223; GLN-233; MET-238 AND LEU-245.
Hyodo H., Ishikawa Y., Kashiwase K., Ogawa A., Watanabe Y., Tsuneyama H., Toyoda C., Uchikawa M., Akaza T., Fujii T.;
"Polymorphisms of RhDVa in Japanese.";
Submitted (OCT-1998) to the EMBL/GenBank/DDBJ databases.
[13]
VARIANT TAR ANTIGEN PRO-110.
PubMed=7741145 [NCBI, ExPASy, EBI, Israel, Japan]
Rouillac C., le van Kim C., Beolet M., Cartron J.-P., Colin Y.;
"Leu110Pro substitution in the RhD polypeptide is responsible for the DVII category blood group phenotype.";
Am. J. Hematol. 49:87-88(1995).
[14]
VARIANT [LARGE SCALE ANALYSIS] CYS-103.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
X63097; CAA44811.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
X63094; CAA44808.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
L08429; AAA02679.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
S57971; AAB26081.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
S78509; AAB34852.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
S70174; AAB30756.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
S73913; AAB31911.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AB018966; BAA81899.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AB018967; BAA81900.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AB018968; BAA81901.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AB018969; BAA82159.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR A46368; A46368.
I52615; I52615.
RefSeq NP_001121163.1; -.
NP_057208.2; -.
UniGene Hs.647623
3D structure databases
ModBase Q02161.
Organism-specific databases
H-InvDB HIX0000271; -.
HGNC HGNC:10009; RHD.
GenAtlas RHD.
MIM 111680; gene. [NCBI / EBI]
PharmGKB PA34387; -.
GeneCards Q02161.
Gene expression databases
ArrayExpress Q02161; -.
GermOnline ENSG00000187010; Homo sapiens.
Ontologies
GO
GO:0005887; Cellular component: integral to plasma membrane (traceable author statement from ProtInc).
QuickGo view.
Family and domain databases
InterPro IPR010256; RH_like_transpt.
Graphical view of domain structure.
Pfam PF00909; Ammonium_transp; 1.
Pfam graphical view of domain structure.
BLOCKS Q02161.
Genome annotation databases
Ensembl ENSG00000187010; Homo sapiens. [Contig view]
GeneID 6007; -.
Phylogenomic databases
HOVERGEN Q02161; -.
Other
SOURCE RHD; Homo sapiens.
ProtoNet Q02161.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Blood group antigen; Direct protein sequencing; Membrane; Polymorphism; Transmembrane.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
INIT_MET   1     1        Removed. 
CHAIN   2   417  416     Blood group Rh(D) polypeptide. PRO_0000168190
TRANSMEM   12    32  21     Potential. 
TRANSMEM   44    64  21     Potential. 
TRANSMEM   77    97  21     Potential. 
TRANSMEM   107   127  21     Potential. 
TRANSMEM   130   150  21     Potential. 
TRANSMEM   167   187  21     Potential. 
TRANSMEM   203   223  21     Potential. 
TRANSMEM   238   258  21     Potential. 
TRANSMEM   287   307  21     Potential. 
TRANSMEM   334   354  21     Potential. 
TRANSMEM   358   378  21     Potential. 
VAR_SEQ   314   409        Missing (in isoform 2). VSP_005706
VAR_SEQ   316   316        C -> S (in isoform 3). VSP_005707
VAR_SEQ   317   417        Missing (in isoform 3). VSP_005708
VARIANT   16    16  1     W -> C (in dbSNP:rs586178 [NCBI]). VAR_034455 
VARIANT   103   103  1     S -> C (in a breast cancer sample; somatic mutation). VAR_035615 
VARIANT   110   110  1     L -> P (in Tar antigen). VAR_006919 
VARIANT   193   193  1     E -> K (in dbSNP:rs17418091 [NCBI]). VAR_034456 
VARIANT   201   201  1     T -> R (in dbSNP:rs17418098 [NCBI]). VAR_034457 
VARIANT   218   218  1     M -> I. VAR_006920 
VARIANT   223   223  1     F -> V (in RhDVa(FK) and RhDVa(TT)). VAR_013304 
VARIANT   233   233  1     E -> Q (in RhDVa(FK), RhDVa(TO), RhDVa(TT) and RhDYo; dbSNP:rs1053359 [NCBI]). VAR_013305 
VARIANT   238   238  1     V -> M (in RhDVa(TO) and RhDVa(TT); dbSNP:rs1053360 [NCBI]). VAR_013306 
VARIANT   245   245  1     V -> L (in RhDVa(TT)). VAR_013307 
CONFLICT   39    39        E -> G (in Ref. 4; AAB26081). 
CONFLICT   103   103        S -> P (in Ref. 4; AAB26081). 
CONFLICT   127   127        V -> A (in Ref. 4; AAB26081). 
CONFLICT   174   174        V -> M (in Ref. 5; AAB34852). 
CONFLICT   182   182        S -> T (in Ref. 4; AAB26081). 
CONFLICT   314   314        G -> V (in Ref. 4 and 7). 
CONFLICT   323   323        P -> H (in Ref. 4; AAB26081). 
CONFLICT   398   398        E -> V (in Ref. 5; AAB34852). 
Sequence information
Length: 417 AA [This is the length of the unprocessed precursor] Molecular weight: 45180 Da [This is the MW of the unprocessed precursor] CRC64: 649F1BFA664AF7DB [This is a checksum on the sequence]
        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 

Q02161 in FASTA format

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