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Q02161 (RHD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 127. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

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

Alternative products

This entry describes 6 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.
Isoform 4 (identifier: Q02161-4)

The sequence of this isoform differs from the canonical sequence as follows:
     359-417: IGFQVLLSIG...WKFPHLAVGF → SLGWNLAVKM...PFIMHCRIQQ
Isoform 5 (identifier: Q02161-5)

The sequence of this isoform differs from the canonical sequence as follows:
     358-417: MIGFQVLLSI...WKFPHLAVGF → IFLIWLLDFK...LPAFVREKRS
Isoform 6 (identifier: Q02161-6)

The sequence of this isoform differs from the canonical sequence as follows:
     314-378: GCCNRVLGIP...ELSLAIVIAL → DWLPGPPQHW...LPAFVREKRS
     379-417: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.11 Ref.12 Ref.13
Chain2 – 417416Blood group Rh(D) polypeptide
PRO_0000168190

Regions

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

Natural variations

Alternative sequence314 – 40996Missing in isoform 2.
VSP_005706
Alternative sequence314 – 37865GCCNR…IVIAL → DWLPGPPQHWGTQLGHRDSS HVWSPDSFLIWLLDFKQKHP RKTRPVQKQDNFLSLLPAFV REKRS in isoform 6.
VSP_047795
Alternative sequence3161C → S in isoform 3.
VSP_005707
Alternative sequence317 – 417101Missing in isoform 3.
VSP_005708
Alternative sequence358 – 41760MIGFQ…LAVGF → IFLIWLLDFKQKHPRKTRPV QKQDNFLSLLPAFVREKRS in isoform 5.
VSP_047796
Alternative sequence359 – 41759IGFQV…LAVGF → SLGWNLAVKMAEAGDEELMR LDVSQRNHGGAAVPTGSWMP STETTIAPNYRDHISVVSSF GCWILSKSIQEKQGLFKNKT TSSHCCLHLYVRNAHDSKVS NVRAGTGVRENGVESFLCHS LRRISPFIMHCRIQQ in isoform 4.
VSP_047797
Alternative sequence379 – 41739Missing in isoform 6.
VSP_047798
Natural variant161W → C. Ref.6
Corresponds to variant rs586178 [ dbSNP | Ensembl ].
VAR_034455
Natural variant1031S → C in a breast cancer sample; somatic mutation. Ref.16
VAR_035615
Natural variant1101L → P in Tar antigen. Ref.15
VAR_006919
Natural variant1931E → K.
Corresponds to variant rs17418091 [ dbSNP | Ensembl ].
VAR_034456
Natural variant2011T → R.
Corresponds to variant rs17418098 [ dbSNP | Ensembl ].
VAR_034457
Natural variant2181M → I. Ref.1
Corresponds to variant rs141540728 [ dbSNP | Ensembl ].
VAR_006920
Natural variant2231F → V in RhDVa(FK) and RhDVa(TT). Ref.9
Corresponds to variant rs1053356 [ dbSNP | Ensembl ].
VAR_013304
Natural variant2331E → Q in RhDVa(FK), RhDVa(TO), RhDVa(TT) and RhDYo. Ref.9
Corresponds to variant rs1053359 [ dbSNP | Ensembl ].
VAR_013305
Natural variant2381V → M in RhDVa(TO) and RhDVa(TT). Ref.9
Corresponds to variant rs1053360 [ dbSNP | Ensembl ].
VAR_013306
Natural variant2451V → L in RhDVa(TT). Ref.9
Corresponds to variant rs150073306 [ dbSNP | Ensembl ].
VAR_013307
Natural variant2631G → R.
Corresponds to variant rs3118454 [ dbSNP | Ensembl ].
VAR_047996
Natural variant3061V → I.
Corresponds to variant rs590813 [ dbSNP | Ensembl ].
VAR_047997
Natural variant3111Y → C.
Corresponds to variant rs590787 [ dbSNP | Ensembl ].
VAR_047998

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.6
Sequence conflict1821S → T in AAB26081. Ref.4
Sequence conflict3141G → V in AAB26081. Ref.4
Sequence conflict3141G → V in AAB31911. Ref.7
Sequence conflict3231P → H in AAB26081. Ref.4
Sequence conflict3791M → T in CAA44811. Ref.1
Sequence conflict3791M → T in CAA44808. Ref.1
Sequence conflict3791M → T in AAA02679. Ref.3
Sequence conflict3791M → T in AAB26081. Ref.4
Sequence conflict3791M → T in AAB34852. Ref.6
Sequence conflict3791M → T in BAA81899. Ref.8
Sequence conflict3791M → T in BAA81900. Ref.8
Sequence conflict3791M → T in BAA81901. Ref.8
Sequence conflict3791M → T in BAA82159. Ref.8
Sequence conflict3981E → V in AAB34852. Ref.6

Sequences

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

Last modified May 18, 2010. Version 3.
Checksum: 38721BFA664AE199

FASTA41745,211
        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 SLAIVIALMS GLLTGLLLNL KIWKAPHEAK YFDDQVFWKF PHLAVGF 

« Hide

Isoform 2 (Short 1) [UniParc].

Checksum: 79E9FB671F8F84E8
Show »

FASTA32134,837
Isoform 3 (Short 2) [UniParc].

Checksum: 4BCD39AC4813587F
Show »

FASTA31634,215
Isoform 4 [UniParc].

Checksum: A1122BAAF7764F2F
Show »

FASTA49353,641
Isoform 5 [UniParc].

Checksum: 39E89394C36B903F
Show »

FASTA39643,290
Isoform 6 [UniParc].

Checksum: 21ACB09A3D7A5DD2
Show »

FASTA37841,694

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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ILE-218.
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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[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 1).
[5]"Identification of a new RhD-specific mRNA from K562 cells."
Westhoff C.M., Wylie D.E.
Blood 83:3098-3100(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[6]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT CYS-16.
[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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[8]"Multiple isoforms excluding normal RhD mRNA detected in Rh blood group Del phenotype with RHD 1227A allele."
Shao C.P., Xiong W., Zhou Y.Y.
Transfus. Apher. Sci. 34:145-152(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4; 5 AND 6), ALTERNATIVE SPLICING.
[9]"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.
[10]"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. expand/collapse author list , 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].
[11]"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.
[12]"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] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 2-21.
[13]"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.
[14]"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 401-407.
[15]"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] [Europe PMC] [Abstract]
Cited for: VARIANT TAR ANTIGEN PRO-110.
[16]"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] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-103.
+Additional computationally mapped references.

Web resources

dbRBC/BGMUT

Blood group antigen gene mutation database

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X63097 mRNA. Translation: CAA44811.1.
X63094 mRNA. Translation: CAA44808.1.
L08429 mRNA. Translation: AAA02679.1.
S57971 mRNA. Translation: AAB26081.1.
S70174 mRNA. Translation: AAB30756.1.
S78509 mRNA. Translation: AAB34852.1.
S73913 mRNA. Translation: AAB31911.1.
AY751492 mRNA. Translation: AAU93636.1.
AY751493 mRNA. Translation: AAU93637.1.
AY751495 mRNA. Translation: AAU93639.1.
AB018966 mRNA. Translation: BAA81899.1.
AB018967 mRNA. Translation: BAA81900.1.
AB018968 mRNA. Translation: BAA81901.1.
AB018969 mRNA. Translation: BAA82159.1.
AL928711 Genomic DNA. Translation: CAH72602.1.
PIRA46368.
I52615.
RefSeqNP_001121163.1. NM_001127691.2.
NP_001269797.1. NM_001282868.1.
NP_001269798.1. NM_001282869.1.
NP_001269800.1. NM_001282871.1.
NP_057208.2. NM_016124.4.
UniGeneHs.449968.

3D structure databases

ProteinModelPortalQ02161.
SMRQ02161. Positions 3-414.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111939. 2 interactions.

Protein family/group databases

TCDB1.A.11.4.3. the ammonia transporter channel (amt) family.

PTM databases

PhosphoSiteQ02161.

Polymorphism databases

DMDM296452980.

Proteomic databases

PaxDbQ02161.
PRIDEQ02161.

Protocols and materials databases

DNASU6007.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000328664; ENSP00000331871; ENSG00000187010. [Q02161-1]
ENST00000342055; ENSP00000339577; ENSG00000187010. [Q02161-4]
ENST00000357542; ENSP00000350150; ENSG00000187010. [Q02161-5]
ENST00000417538; ENSP00000396420; ENSG00000187010. [Q02161-6]
ENST00000454452; ENSP00000413849; ENSG00000187010. [Q02161-2]
GeneID6007.
KEGGhsa:6007.
UCSCuc009vrm.3. human. [Q02161-1]

Organism-specific databases

CTD6007.
GeneCardsGC01P025599.
HGNCHGNC:10009. RHD.
MIM111680. gene.
neXtProtNX_Q02161.
Orphanet71275. Rh deficiency syndrome.
PharmGKBPA34387.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG314742.
HOVERGENHBG004374.
KOK06579.
OMATCGVHYT.
OrthoDBEOG73NG3C.
PhylomeDBQ02161.
TreeFamTF314450.

Gene expression databases

ArrayExpressQ02161.
BgeeQ02161.
GenevestigatorQ02161.

Family and domain databases

InterProIPR024041. NH4_transpt_AmtB-like_dom.
IPR002229. RhesusRHD.
[Graphical view]
PfamPF00909. Ammonium_transp. 1 hit.
[Graphical view]
PRINTSPR00342. RHESUSRHD.
SUPFAMSSF111352. SSF111352. 1 hit.
ProtoNetSearch...

Other

GeneWikiRHD_(gene).
GenomeRNAi6007.
NextBio23439.
PROQ02161.
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, Q5VSK0, Q5XLS9, Q5XLT1, Q5XLT2, Q9NPK0, Q9UQ20, Q9UQ21, Q9UQ22, Q9UQ23
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 18, 2010
Last modified: March 19, 2014
This is version 127 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

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

Human cell differentiation molecules

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

Blood group antigen proteins

Nomenclature of blood group antigens and list of entries