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Protein

Polycystic kidney disease and receptor for egg jelly-related protein

Gene

PKDREJ

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

Functioni

May have a central role in fertilization. May generate a Ca2+ transporting channel directly involved in initiating the acrosome reaction of the sperm.

GO - Molecular functioni

GO - Biological processi

  • acrosome reaction Source: ProtInc
  • detection of mechanical stimulus Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000130943-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Polycystic kidney disease and receptor for egg jelly-related protein
Alternative name(s):
PKD and REJ homolog
Gene namesi
Name:PKDREJ
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:9015. PKDREJ.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini20 – 1184ExtracellularSequence analysisAdd BLAST1165
Transmembranei1185 – 1205HelicalSequence analysisAdd BLAST21
Topological domaini1206 – 1389CytoplasmicSequence analysisAdd BLAST184
Transmembranei1390 – 1410HelicalSequence analysisAdd BLAST21
Topological domaini1411 – 1427ExtracellularSequence analysisAdd BLAST17
Transmembranei1428 – 1448HelicalSequence analysisAdd BLAST21
Topological domaini1449 – 1576CytoplasmicSequence analysisAdd BLAST128
Transmembranei1577 – 1597HelicalSequence analysisAdd BLAST21
Topological domaini1598 – 1607ExtracellularSequence analysis10
Transmembranei1608 – 1628HelicalSequence analysisAdd BLAST21
Topological domaini1629 – 1708CytoplasmicSequence analysisAdd BLAST80
Transmembranei1709 – 1729HelicalSequence analysisAdd BLAST21
Topological domaini1730 – 1966ExtracellularSequence analysisAdd BLAST237
Transmembranei1967 – 1987HelicalSequence analysisAdd BLAST21
Topological domaini1988 – 1996CytoplasmicSequence analysis9
Transmembranei1997 – 2017HelicalSequence analysisAdd BLAST21
Topological domaini2018 – 2042ExtracellularSequence analysisAdd BLAST25
Transmembranei2043 – 2063HelicalSequence analysisAdd BLAST21
Topological domaini2064 – 2091CytoplasmicSequence analysisAdd BLAST28
Transmembranei2092 – 2112HelicalSequence analysisAdd BLAST21
Topological domaini2113 – 2145ExtracellularSequence analysisAdd BLAST33
Transmembranei2146 – 2166HelicalSequence analysisAdd BLAST21
Topological domaini2167 – 2253CytoplasmicSequence analysisAdd BLAST87

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi10343.
OpenTargetsiENSG00000130943.
PharmGKBiPA33347.

Polymorphism and mutation databases

BioMutaiPKDREJ.
DMDMi23396800.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
ChainiPRO_000002429920 – 2253Polycystic kidney disease and receptor for egg jelly-related proteinAdd BLAST2234

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi197N-linked (GlcNAc...)Sequence analysis1
Glycosylationi242N-linked (GlcNAc...)Sequence analysis1
Glycosylationi295N-linked (GlcNAc...)Sequence analysis1
Glycosylationi306N-linked (GlcNAc...)Sequence analysis1
Glycosylationi345N-linked (GlcNAc...)Sequence analysis1
Glycosylationi349N-linked (GlcNAc...)Sequence analysis1
Glycosylationi481N-linked (GlcNAc...)Sequence analysis1
Glycosylationi674N-linked (GlcNAc...)Sequence analysis1
Glycosylationi849N-linked (GlcNAc...)Sequence analysis1
Glycosylationi890N-linked (GlcNAc...)Sequence analysis1
Glycosylationi923N-linked (GlcNAc...)Sequence analysis1
Glycosylationi939N-linked (GlcNAc...)Sequence analysis1
Glycosylationi958N-linked (GlcNAc...)Sequence analysis1
Glycosylationi965N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1836N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1893N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1944N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9NTG1.
PaxDbiQ9NTG1.
PeptideAtlasiQ9NTG1.
PRIDEiQ9NTG1.

PTM databases

iPTMnetiQ9NTG1.
PhosphoSitePlusiQ9NTG1.

Expressioni

Tissue specificityi

Exclusively expressed in testis.

Gene expression databases

BgeeiENSG00000130943.
CleanExiHS_PKDREJ.
GenevisibleiQ9NTG1. HS.

Organism-specific databases

HPAiHPA034587.

Interactioni

Subunit structurei

May form homomultimers or heteromultimers in combination with an as yet unidentified subunits.

Protein-protein interaction databases

BioGridi115625. 3 interactors.
IntActiQ9NTG1. 1 interactor.
STRINGi9606.ENSP00000253255.

Structurei

3D structure databases

ProteinModelPortaliQ9NTG1.
SMRiQ9NTG1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini215 – 913REJPROSITE-ProRule annotationAdd BLAST699
Domaini1230 – 1347PLATPROSITE-ProRule annotationAdd BLAST118

Sequence similaritiesi

Belongs to the polycystin family.Curated
Contains 1 PLAT domain.PROSITE-ProRule annotation
Contains 1 REJ domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IQ5F. Eukaryota.
ENOG410ZBZ7. LUCA.
GeneTreeiENSGT00700000104221.
HOVERGENiHBG053603.
InParanoidiQ9NTG1.
KOiK19921.
OMAiCRNCFYP.
OrthoDBiEOG091G004D.
PhylomeDBiQ9NTG1.
TreeFamiTF316484.

Family and domain databases

Gene3Di2.60.60.20. 1 hit.
InterProiIPR000203. GPS.
IPR002859. PKD/REJ-like.
IPR013122. PKD1_2_channel.
IPR003915. PKD_2.
IPR001024. PLAT/LH2_dom.
IPR014010. REJ_dom.
[Graphical view]
PfamiPF08016. PKD_channel. 1 hit.
PF01477. PLAT. 1 hit.
PF02010. REJ. 1 hit.
[Graphical view]
PRINTSiPR01433. POLYCYSTIN2.
SMARTiSM00303. GPS. 1 hit.
SM00308. LH2. 1 hit.
[Graphical view]
SUPFAMiSSF49723. SSF49723. 1 hit.
PROSITEiPS50095. PLAT. 1 hit.
PS51111. REJ. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q9NTG1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRPGPALLLL GVGLSLSVGR LPLPPVPRGA QAAVSGAPGG LLRGAPGLGV
60 70 80 90 100
RGGRALLSLR PSAVRAGGAV LSGRGSLCFP HGGTGRRWYC LDLRVLLSAQ
110 120 130 140 150
RLPWPAAPAL ALVDLQLSAR GGRLSLTWSV RLPRSPGRLA WAFRLRLLGP
160 170 180 190 200
GAARPASPAA RVSPRSAAPG PRPQQGFVAR TECPTDGPAR VMLQAVNSSS
210 220 230 240 250
HRAVESSVSC QINACVIQRV RINTDQKGAP VRLSMQAEAT INASVQLDCP
260 270 280 290 300
AARAIAQYWQ VFSVPAVGQA PDWTQPLDLP QLEIRNSPLF IHIPNNSLQW
310 320 330 340 350
GVYVFNFTVS ITTGNPKMPE VKDSDAVYVW IVRSSLQAVM LGDANITANF
360 370 380 390 400
TEQLILDGST SSDPDADSPL QGLQFFWYCT TDPRNYGGDR IILGSKEVCH
410 420 430 440 450
PEQANLKWPW ASGPVLTLLP ETLKGDHVYF FRMVIRKDSR TAFSDKRVHV
460 470 480 490 500
LQGPKAIAHI TCIENCERNF IVSDRFSLFL NCTNCASRDF YKWSILSSSG
510 520 530 540 550
GEMLFDWMGE TVTGRNGAYL SIKAFAFRHF LEAEFSISLY LACWSGVTSV
560 570 580 590 600
FRHSFIINHG PQIGECKINP AKGIALITKF VVQCSNFRDK HVPLTYKIIV
610 620 630 640 650
SDLHSVGEIS SVKENTLGTI LYLGPQSTVP PSFLPVGMLA SQYGLKIYAQ
660 670 680 690 700
VYDSLGAFSQ VTLHATAQAP TDKNSSKTVL NQLLSFTVGP SSLLSTLIQK
710 720 730 740 750
KDFLPAGYLL YIVASVLNNM KTELPLRDDR VNLRKHLIDQ SFLLPVSTLV
760 770 780 790 800
EIGQVVMTIT KLTQKPSEFT WDAQKRATMR VWQANQALQE YQQKDKRFRS
810 820 830 840 850
EQIEIVSTGI LMSLSNILKM TSPHQVVKDP FYVIESLSDT ILANKVPGNK
860 870 880 890 900
TTSMRTPNFN MYVKKVEKWG INQLFRNEKH CRNCFYPTLN VSSVPGLSAN
910 920 930 940 950
GPISTMFCDF TNDLFPWLND QENTSVEVSG FRMTGVADNG SVLEITPDVA
960 970 980 990 1000
EVYLVRKNLT FAAFNLTVGP NSEVDGSLKK TTGGFSFQVD STVLREVLVH
1010 1020 1030 1040 1050
IVTEVMVLFT VLVYTGSQIT PTALVATFLV PHDIPPFASQ SALFDPACTV
1060 1070 1080 1090 1100
KKARVVCLPV SLLQLIAQHS HSPHCTVSIV LQAPRFVMKL NDKLVRISIF
1110 1120 1130 1140 1150
SVQCLDMYGI QSEWREGYCI LGEKTSWYEV HCICKNVVRA RRQLGTIGLT
1160 1170 1180 1190 1200
GIHLHTHYVM AKVIVIPNPV DLRLNIIKSL HQNPVTLFTV LFIILLYVGL
1210 1220 1230 1240 1250
AFWALYRDEM DQHLRGHVIV LPDNDPYDNL CYLVTIFTGS RWGSGTRANV
1260 1270 1280 1290 1300
FVQLRGTVST SDVHCLSHPH FTTLYRGSIN TFLLTTKSDL GDIHSIRVWH
1310 1320 1330 1340 1350
NNEGRSPSWY LSRIKVENLF SRHIWLFICQ KWLSVDTTLD RTFHVTHPDE
1360 1370 1380 1390 1400
RLTRKDFFFI DVSSNLRKNH MWFSIFASVV AKTFNRLQRL SCCLAMLLSS
1410 1420 1430 1440 1450
LLCNIMFFNL NRQEQTESRE RKYMRSMMIG IESVLITIPV QLLITFLFTC
1460 1470 1480 1490 1500
SQRKPQADLK EVSPQKHPLM SEASEHWEEY LRKWHAYETA KVHPREVAKP
1510 1520 1530 1540 1550
ASKGKPRLPK ASPKATSKPK HRHRKAQIKT PETLGPNTNS NNNIEDDQDV
1560 1570 1580 1590 1600
HSEQHPSQKD LQQLKKKPRI VLPWWCVYVA WFLVFATSSI SSFFIVFYGL
1610 1620 1630 1640 1650
TYGYDKSIEW LFASFCSFCQ SVLLVQPSKI ILLSGFRTNK PKYCKNLSWS
1660 1670 1680 1690 1700
TKYKYTEIRL DGMRMHPEEM QRIHDQIVRI RGTRMYQPLT EDEIRIFKRK
1710 1720 1730 1740 1750
KRIKRRALLF LSYILTHFIF LALLLILIVL LRHTDCFYYN QFIRDRFSMD
1760 1770 1780 1790 1800
LATVTKLEDI YRWLNSVLLP LLHNDLNPTF LPESSSKILG LPLMRQVRAK
1810 1820 1830 1840 1850
SSEKMCLPAE KFVQNSIRRE IHCHPKYGID PEDTKNYSGF WNEVDKQAID
1860 1870 1880 1890 1900
ESTNGFTYKP QGTQWLYYSY GLLHTYGSGG YALYFFPEQQ RFNSTLRLKE
1910 1920 1930 1940 1950
LQESNWLDEK TWAVVLELTT FNPDINLFCS ISVIFEVSQL GVVNTSISLH
1960 1970 1980 1990 2000
SFSLADFDRK ASAEIYLYVA ILIFFLAYVV DEGCIIMQER ASYVRSVYNL
2010 2020 2030 2040 2050
LNFALKCIFT VLIVLFLRKH FLATGIIRFY LSNPEDFIPF HAVSQVDHIM
2060 2070 2080 2090 2100
RIILGFLLFL TILKTLRYSR FFYDVRLAQR AIQAALPGIC HMAFVVSVYF
2110 2120 2130 2140 2150
FVYMAFGYLV FGQHEWNYSN LIHSTQTVFS YCVSAFQNTE FSNNRILGVL
2160 2170 2180 2190 2200
FLSSFMLVMI CVLINLFQAV ILSAYEEMKQ PVYEEPSDEV EAMTYLCRKL
2210 2220 2230 2240 2250
RTMFSFLTSQ SKAKDEPEFF IDMLYGQPEK NSHRYLGLKT RNINGKKMVY

LVV
Length:2,253
Mass (Da):255,449
Last modified:September 19, 2002 - v2
Checksum:i0878D9FE9106AAE4
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05955026V → A.Corresponds to variant rs7293071dbSNPEnsembl.1
Natural variantiVAR_050544528R → Q.Corresponds to variant rs6008394dbSNPEnsembl.1
Natural variantiVAR_036573669A → G in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_050545914L → P.Corresponds to variant rs6519993dbSNPEnsembl.1
Natural variantiVAR_050546992T → P.Corresponds to variant rs7291444dbSNPEnsembl.1
Natural variantiVAR_050547993V → A.Corresponds to variant rs34798212dbSNPEnsembl.1
Natural variantiVAR_0505481091N → S.Corresponds to variant rs6008384dbSNPEnsembl.1
Natural variantiVAR_0343861147I → M.Corresponds to variant rs36125344dbSNPEnsembl.1
Natural variantiVAR_0505491411N → D.Corresponds to variant rs35276226dbSNPEnsembl.1
Natural variantiVAR_0505501528I → M.Corresponds to variant rs4823496dbSNPEnsembl.1
Natural variantiVAR_0505511729V → I.Corresponds to variant rs9626829dbSNPEnsembl.1
Natural variantiVAR_0365741875T → I in a breast cancer sample; somatic mutation. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF116458 mRNA. Translation: AAD18021.1.
Z93024, AL031034, AL078611 Genomic DNA. Translation: CAI18792.1.
AL031034, AL078611, Z93024 Genomic DNA. Translation: CAI18795.1.
CH471138 Genomic DNA. Translation: EAW73411.1.
AL137288 mRNA. Translation: CAB70680.1.
CCDSiCCDS14073.1.
PIRiT46355.
RefSeqiNP_006062.1. NM_006071.1.
UniGeneiHs.241383.

Genome annotation databases

EnsembliENST00000253255; ENSP00000253255; ENSG00000130943.
GeneIDi10343.
KEGGihsa:10343.
UCSCiuc003bhh.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF116458 mRNA. Translation: AAD18021.1.
Z93024, AL031034, AL078611 Genomic DNA. Translation: CAI18792.1.
AL031034, AL078611, Z93024 Genomic DNA. Translation: CAI18795.1.
CH471138 Genomic DNA. Translation: EAW73411.1.
AL137288 mRNA. Translation: CAB70680.1.
CCDSiCCDS14073.1.
PIRiT46355.
RefSeqiNP_006062.1. NM_006071.1.
UniGeneiHs.241383.

3D structure databases

ProteinModelPortaliQ9NTG1.
SMRiQ9NTG1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115625. 3 interactors.
IntActiQ9NTG1. 1 interactor.
STRINGi9606.ENSP00000253255.

PTM databases

iPTMnetiQ9NTG1.
PhosphoSitePlusiQ9NTG1.

Polymorphism and mutation databases

BioMutaiPKDREJ.
DMDMi23396800.

Proteomic databases

EPDiQ9NTG1.
PaxDbiQ9NTG1.
PeptideAtlasiQ9NTG1.
PRIDEiQ9NTG1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000253255; ENSP00000253255; ENSG00000130943.
GeneIDi10343.
KEGGihsa:10343.
UCSCiuc003bhh.4. human.

Organism-specific databases

CTDi10343.
DisGeNETi10343.
GeneCardsiPKDREJ.
HGNCiHGNC:9015. PKDREJ.
HPAiHPA034587.
MIMi604670. gene.
neXtProtiNX_Q9NTG1.
OpenTargetsiENSG00000130943.
PharmGKBiPA33347.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQ5F. Eukaryota.
ENOG410ZBZ7. LUCA.
GeneTreeiENSGT00700000104221.
HOVERGENiHBG053603.
InParanoidiQ9NTG1.
KOiK19921.
OMAiCRNCFYP.
OrthoDBiEOG091G004D.
PhylomeDBiQ9NTG1.
TreeFamiTF316484.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000130943-MONOMER.

Miscellaneous databases

GenomeRNAii10343.
PROiQ9NTG1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130943.
CleanExiHS_PKDREJ.
GenevisibleiQ9NTG1. HS.

Family and domain databases

Gene3Di2.60.60.20. 1 hit.
InterProiIPR000203. GPS.
IPR002859. PKD/REJ-like.
IPR013122. PKD1_2_channel.
IPR003915. PKD_2.
IPR001024. PLAT/LH2_dom.
IPR014010. REJ_dom.
[Graphical view]
PfamiPF08016. PKD_channel. 1 hit.
PF01477. PLAT. 1 hit.
PF02010. REJ. 1 hit.
[Graphical view]
PRINTSiPR01433. POLYCYSTIN2.
SMARTiSM00303. GPS. 1 hit.
SM00308. LH2. 1 hit.
[Graphical view]
SUPFAMiSSF49723. SSF49723. 1 hit.
PROSITEiPS50095. PLAT. 1 hit.
PS51111. REJ. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPKDRE_HUMAN
AccessioniPrimary (citable) accession number: Q9NTG1
Secondary accession number(s): B1AJY3, O95850
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: September 19, 2002
Last modified: November 2, 2016
This is version 130 of the entry and version 2 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, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.