Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Blood group Rh(D) polypeptide

Gene

RHD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Blood group antigen

Enzyme and pathway databases

BioCyciZFISH:ENSG00000178847-MONOMER.

Protein family/group databases

TCDBi1.A.11.4.3. the ammonium transporter channel (amt) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Blood group Rh(D) polypeptide
Alternative name(s):
RHXIII
Rh polypeptide 2
Short name:
RhPII
Rhesus D antigen
CD_antigen: CD240D
Gene namesi
Name:RHD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:10009. RHD.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei12 – 32HelicalSequence analysisAdd BLAST21
Transmembranei44 – 64HelicalSequence analysisAdd BLAST21
Transmembranei77 – 97HelicalSequence analysisAdd BLAST21
Transmembranei107 – 127HelicalSequence analysisAdd BLAST21
Transmembranei130 – 150HelicalSequence analysisAdd BLAST21
Transmembranei167 – 187HelicalSequence analysisAdd BLAST21
Transmembranei203 – 223HelicalSequence analysisAdd BLAST21
Transmembranei238 – 258HelicalSequence analysisAdd BLAST21
Transmembranei287 – 307HelicalSequence analysisAdd BLAST21
Transmembranei334 – 354HelicalSequence analysisAdd BLAST21
Transmembranei358 – 378HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • integral component of plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi6007.
MalaCardsiRHD.
OpenTargetsiENSG00000187010.
Orphaneti71275. Rh deficiency syndrome.
PharmGKBiPA34387.

Polymorphism and mutation databases

BioMutaiRHD.
DMDMi296452980.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved3 Publications
ChainiPRO_00001681902 – 417Blood group Rh(D) polypeptideAdd BLAST416

Proteomic databases

PaxDbiQ02161.
PeptideAtlasiQ02161.
PRIDEiQ02161.

PTM databases

iPTMnetiQ02161.
PhosphoSitePlusiQ02161.

Expressioni

Tissue specificityi

Restricted to tissues or cell lines expressing erythroid characters.

Gene expression databases

BgeeiENSG00000187010.
ExpressionAtlasiQ02161. baseline and differential.
GenevisibleiQ02161. HS.

Interactioni

Protein-protein interaction databases

BioGridi111939. 1 interactor.
STRINGi9606.ENSP00000331871.

Structurei

3D structure databases

ProteinModelPortaliQ02161.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3796. Eukaryota.
ENOG410XTF8. LUCA.
GeneTreeiENSGT00390000005787.
HOVERGENiHBG004374.
InParanoidiQ02161.
KOiK06579.
OMAiXFPHLAV.
OrthoDBiEOG091G06KX.
PhylomeDBiQ02161.
TreeFamiTF314450.

Family and domain databases

Gene3Di1.10.3430.10. 1 hit.
InterProiIPR029020. Ammonium/urea_transptr.
IPR001905. Ammonium_transpt.
IPR024041. NH4_transpt_AmtB-like_dom.
IPR002229. RhesusRHD.
[Graphical view]
PANTHERiPTHR11730. PTHR11730. 1 hit.
PfamiPF00909. Ammonium_transp. 1 hit.
[Graphical view]
PRINTSiPR00342. RHESUSRHD.
SUPFAMiSSF111352. SSF111352. 1 hit.

Sequences (6)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q02161-1) [UniParc]FASTAAdd to basket
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.

« Hide

        10         20         30         40         50
MSSKYPRSVR RCLPLWALTL EAALILLFYF FTHYDASLED QKGLVASYQV
60 70 80 90 100
GQDLTVMAAI GLGFLTSSFR RHSWSSVAFN LFMLALGVQW AILLDGFLSQ
110 120 130 140 150
FPSGKVVITL FSIRLATMSA LSVLISVDAV LGKVNLAQLV VMVLVEVTAL
160 170 180 190 200
GNLRMVISNI FNTDYHMNMM HIYVFAAYFG LSVAWCLPKP LPEGTEDKDQ
210 220 230 240 250
TATIPSLSAM LGALFLWMFW PSFNSALLRS PIERKNAVFN TYYAVAVSVV
260 270 280 290 300
TAISGSSLAH PQGKISKTYV HSAVLAGGVA VGTSCHLIPS PWLAMVLGLV
310 320 330 340 350
AGLISVGGAK YLPGCCNRVL GIPHSSIMGY NFSLLGLLGE IIYIVLLVLD
360 370 380 390 400
TVGAGNGMIG FQVLLSIGEL SLAIVIALMS GLLTGLLLNL KIWKAPHEAK
410
YFDDQVFWKF PHLAVGF
Length:417
Mass (Da):45,211
Last modified:May 18, 2010 - v3
Checksum:i38721BFA664AE199
GO
Isoform 2 (identifier: Q02161-2) [UniParc]FASTAAdd to basket
Also known as: Short 1

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

Show »
Length:321
Mass (Da):34,837
Checksum:i79E9FB671F8F84E8
GO
Isoform 3 (identifier: Q02161-3) [UniParc]FASTAAdd to basket
Also known as: Short 2

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

Show »
Length:316
Mass (Da):34,215
Checksum:i4BCD39AC4813587F
GO
Isoform 4 (identifier: Q02161-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     359-417: IGFQVLLSIG...WKFPHLAVGF → SLGWNLAVKM...PFIMHCRIQQ

Show »
Length:493
Mass (Da):53,641
Checksum:iA1122BAAF7764F2F
GO
Isoform 5 (identifier: Q02161-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     358-417: MIGFQVLLSI...WKFPHLAVGF → IFLIWLLDFK...LPAFVREKRS

Show »
Length:396
Mass (Da):43,290
Checksum:i39E89394C36B903F
GO
Isoform 6 (identifier: Q02161-6) [UniParc]FASTAAdd to basket

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

Show »
Length:378
Mass (Da):41,694
Checksum:i21ACB09A3D7A5DD2
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti39E → G in AAB26081 (PubMed:7916743).Curated1
Sequence conflicti103S → P in AAB26081 (PubMed:7916743).Curated1
Sequence conflicti127V → A in AAB26081 (PubMed:7916743).Curated1
Sequence conflicti174V → M in AAB34852 (PubMed:7606008).Curated1
Sequence conflicti182S → T in AAB26081 (PubMed:7916743).Curated1
Sequence conflicti314G → V in AAB26081 (PubMed:7916743).Curated1
Sequence conflicti314G → V in AAB31911 (PubMed:8080999).Curated1
Sequence conflicti323P → H in AAB26081 (PubMed:7916743).Curated1
Sequence conflicti379M → T in CAA44811 (PubMed:1438298).Curated1
Sequence conflicti379M → T in CAA44808 (PubMed:1438298).Curated1
Sequence conflicti379M → T in AAA02679 (PubMed:8329718).Curated1
Sequence conflicti379M → T in AAB26081 (PubMed:7916743).Curated1
Sequence conflicti379M → T in AAB34852 (PubMed:7606008).Curated1
Sequence conflicti379M → T in BAA81899 (PubMed:16510313).Curated1
Sequence conflicti379M → T in BAA81900 (PubMed:16510313).Curated1
Sequence conflicti379M → T in BAA81901 (PubMed:16510313).Curated1
Sequence conflicti379M → T in BAA82159 (PubMed:16510313).Curated1
Sequence conflicti398E → V in AAB34852 (PubMed:7606008).Curated1

Polymorphismi

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.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03445516W → C.1 PublicationCorresponds to variant rs586178dbSNPEnsembl.1
Natural variantiVAR_035615103S → C in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_006919110L → P in Tar antigen. 1 PublicationCorresponds to variant rs121912762dbSNPEnsembl.1
Natural variantiVAR_034456193E → K.Corresponds to variant rs17418091dbSNPEnsembl.1
Natural variantiVAR_034457201T → R.Corresponds to variant rs17418098dbSNPEnsembl.1
Natural variantiVAR_006920218M → I.1 PublicationCorresponds to variant rs141540728dbSNPEnsembl.1
Natural variantiVAR_013304223F → V Found in RhDVa(FK) and RhDVa(TT). 1 PublicationCorresponds to variant rs1053356dbSNPEnsembl.1
Natural variantiVAR_013305233E → Q Found in RhDVa(FK), RhDVa(TO), RhDVa(TT) and RhDYo. 1 PublicationCorresponds to variant rs1053359dbSNPEnsembl.1
Natural variantiVAR_013306238V → M Found in RhDVa(TO) and RhDVa(TT). 1 PublicationCorresponds to variant rs1053360dbSNPEnsembl.1
Natural variantiVAR_013307245V → L Found in RhDVa(TT). 1 PublicationCorresponds to variant rs150073306dbSNPEnsembl.1
Natural variantiVAR_047996263G → R.Corresponds to variant rs3118454dbSNPEnsembl.1
Natural variantiVAR_047997306V → I.Corresponds to variant rs590813dbSNPEnsembl.1
Natural variantiVAR_047998311Y → C.Corresponds to variant rs590787dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_005706314 – 409Missing in isoform 2. 1 PublicationAdd BLAST96
Alternative sequenceiVSP_047795314 – 378GCCNR…IVIAL → DWLPGPPQHWGTQLGHRDSS HVWSPDSFLIWLLDFKQKHP RKTRPVQKQDNFLSLLPAFV REKRS in isoform 6. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_005707316C → S in isoform 3. 1 Publication1
Alternative sequenceiVSP_005708317 – 417Missing in isoform 3. 1 PublicationAdd BLAST101
Alternative sequenceiVSP_047796358 – 417MIGFQ…LAVGF → IFLIWLLDFKQKHPRKTRPV QKQDNFLSLLPAFVREKRS in isoform 5. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_047797359 – 417IGFQV…LAVGF → SLGWNLAVKMAEAGDEELMR LDVSQRNHGGAAVPTGSWMP STETTIAPNYRDHISVVSSF GCWILSKSIQEKQGLFKNKT TSSHCCLHLYVRNAHDSKVS NVRAGTGVRENGVESFLCHS LRRISPFIMHCRIQQ in isoform 4. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_047798379 – 417Missing in isoform 6. 1 PublicationAdd BLAST39

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS262.1. [Q02161-1]
CCDS53285.1. [Q02161-2]
CCDS60028.1. [Q02161-4]
CCDS60030.1. [Q02161-5]
CCDS60031.1. [Q02161-6]
PIRiA46368.
I52615.
RefSeqiNP_001121163.1. NM_001127691.2. [Q02161-2]
NP_001269797.1. NM_001282868.1. [Q02161-6]
NP_001269798.1. NM_001282869.1. [Q02161-5]
NP_001269800.1. NM_001282871.1. [Q02161-4]
NP_057208.2. NM_016124.4.
UniGeneiHs.449968.

Genome annotation databases

EnsembliENST00000328664; ENSP00000331871; ENSG00000187010. [Q02161-1]
ENST00000342055; ENSP00000339577; ENSG00000187010. [Q02161-4]
ENST00000357542; ENSP00000350150; ENSG00000187010. [Q02161-5]
ENST00000417538; ENSP00000396420; ENSG00000187010. [Q02161-6]
ENST00000454452; ENSP00000413849; ENSG00000187010. [Q02161-2]
GeneIDi6007.
KEGGihsa:6007.
UCSCiuc001bjz.5. human. [Q02161-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

dbRBC/BGMUT

Blood group antigen gene mutation database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS262.1. [Q02161-1]
CCDS53285.1. [Q02161-2]
CCDS60028.1. [Q02161-4]
CCDS60030.1. [Q02161-5]
CCDS60031.1. [Q02161-6]
PIRiA46368.
I52615.
RefSeqiNP_001121163.1. NM_001127691.2. [Q02161-2]
NP_001269797.1. NM_001282868.1. [Q02161-6]
NP_001269798.1. NM_001282869.1. [Q02161-5]
NP_001269800.1. NM_001282871.1. [Q02161-4]
NP_057208.2. NM_016124.4.
UniGeneiHs.449968.

3D structure databases

ProteinModelPortaliQ02161.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111939. 1 interactor.
STRINGi9606.ENSP00000331871.

Protein family/group databases

TCDBi1.A.11.4.3. the ammonium transporter channel (amt) family.

PTM databases

iPTMnetiQ02161.
PhosphoSitePlusiQ02161.

Polymorphism and mutation databases

BioMutaiRHD.
DMDMi296452980.

Proteomic databases

PaxDbiQ02161.
PeptideAtlasiQ02161.
PRIDEiQ02161.

Protocols and materials databases

DNASUi6007.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000328664; ENSP00000331871; ENSG00000187010. [Q02161-1]
ENST00000342055; ENSP00000339577; ENSG00000187010. [Q02161-4]
ENST00000357542; ENSP00000350150; ENSG00000187010. [Q02161-5]
ENST00000417538; ENSP00000396420; ENSG00000187010. [Q02161-6]
ENST00000454452; ENSP00000413849; ENSG00000187010. [Q02161-2]
GeneIDi6007.
KEGGihsa:6007.
UCSCiuc001bjz.5. human. [Q02161-1]

Organism-specific databases

CTDi6007.
DisGeNETi6007.
GeneCardsiRHD.
HGNCiHGNC:10009. RHD.
MalaCardsiRHD.
MIMi111680. gene.
neXtProtiNX_Q02161.
OpenTargetsiENSG00000187010.
Orphaneti71275. Rh deficiency syndrome.
PharmGKBiPA34387.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3796. Eukaryota.
ENOG410XTF8. LUCA.
GeneTreeiENSGT00390000005787.
HOVERGENiHBG004374.
InParanoidiQ02161.
KOiK06579.
OMAiXFPHLAV.
OrthoDBiEOG091G06KX.
PhylomeDBiQ02161.
TreeFamiTF314450.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000178847-MONOMER.

Miscellaneous databases

GeneWikiiRHD_(gene).
GenomeRNAii6007.
PROiQ02161.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187010.
ExpressionAtlasiQ02161. baseline and differential.
GenevisibleiQ02161. HS.

Family and domain databases

Gene3Di1.10.3430.10. 1 hit.
InterProiIPR029020. Ammonium/urea_transptr.
IPR001905. Ammonium_transpt.
IPR024041. NH4_transpt_AmtB-like_dom.
IPR002229. RhesusRHD.
[Graphical view]
PANTHERiPTHR11730. PTHR11730. 1 hit.
PfamiPF00909. Ammonium_transp. 1 hit.
[Graphical view]
PRINTSiPR00342. RHESUSRHD.
SUPFAMiSSF111352. SSF111352. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiRHD_HUMAN
AccessioniPrimary (citable) accession number: Q02161
Secondary accession number(s): Q02162
, Q07618, Q16147, Q16235, Q16355, Q5VSK0, Q5XLS9, Q5XLT1, Q5XLT2, Q9NPK0, Q9UQ20, Q9UQ21, Q9UQ22, Q9UQ23
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 150 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Blood group antigen proteins
    Nomenclature of blood group antigens and list of entries
  2. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  3. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.