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Q9NTG1 (PKDRE_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 108. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Polycystic kidney disease and receptor for egg jelly-related protein
Alternative name(s):
PKD and REJ homolog
Gene names
Name:PKDREJ
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2253 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Subunit structure

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

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

Exclusively expressed in testis.

Sequence similarities

Belongs to the polycystin family.

Contains 1 PLAT domain.

Contains 1 REJ domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919 Potential
Chain20 – 22532234Polycystic kidney disease and receptor for egg jelly-related protein
PRO_0000024299

Regions

Topological domain20 – 11841165Extracellular Potential
Transmembrane1185 – 120521Helical; Potential
Topological domain1206 – 1389184Cytoplasmic Potential
Transmembrane1390 – 141021Helical; Potential
Topological domain1411 – 142717Extracellular Potential
Transmembrane1428 – 144821Helical; Potential
Topological domain1449 – 1576128Cytoplasmic Potential
Transmembrane1577 – 159721Helical; Potential
Topological domain1598 – 160710Extracellular Potential
Transmembrane1608 – 162821Helical; Potential
Topological domain1629 – 170880Cytoplasmic Potential
Transmembrane1709 – 172921Helical; Potential
Topological domain1730 – 1966237Extracellular Potential
Transmembrane1967 – 198721Helical; Potential
Topological domain1988 – 19969Cytoplasmic Potential
Transmembrane1997 – 201721Helical; Potential
Topological domain2018 – 204225Extracellular Potential
Transmembrane2043 – 206321Helical; Potential
Topological domain2064 – 209128Cytoplasmic Potential
Transmembrane2092 – 211221Helical; Potential
Topological domain2113 – 214533Extracellular Potential
Transmembrane2146 – 216621Helical; Potential
Topological domain2167 – 225387Cytoplasmic Potential
Domain215 – 913699REJ
Domain1230 – 1347118PLAT

Amino acid modifications

Glycosylation1971N-linked (GlcNAc...) Potential
Glycosylation2421N-linked (GlcNAc...) Potential
Glycosylation2951N-linked (GlcNAc...) Potential
Glycosylation3061N-linked (GlcNAc...) Potential
Glycosylation3451N-linked (GlcNAc...) Potential
Glycosylation3491N-linked (GlcNAc...) Potential
Glycosylation4811N-linked (GlcNAc...) Potential
Glycosylation6741N-linked (GlcNAc...) Potential
Glycosylation8491N-linked (GlcNAc...) Potential
Glycosylation8901N-linked (GlcNAc...) Potential
Glycosylation9231N-linked (GlcNAc...) Potential
Glycosylation9391N-linked (GlcNAc...) Potential
Glycosylation9581N-linked (GlcNAc...) Potential
Glycosylation9651N-linked (GlcNAc...) Potential
Glycosylation18361N-linked (GlcNAc...) Potential
Glycosylation18931N-linked (GlcNAc...) Potential
Glycosylation19441N-linked (GlcNAc...) Potential

Natural variations

Natural variant261V → A.
Corresponds to variant rs7293071 [ dbSNP | Ensembl ].
VAR_059550
Natural variant5281R → Q.
Corresponds to variant rs6008394 [ dbSNP | Ensembl ].
VAR_050544
Natural variant6691A → G in a breast cancer sample; somatic mutation. Ref.6
VAR_036573
Natural variant9141L → P.
Corresponds to variant rs6519993 [ dbSNP | Ensembl ].
VAR_050545
Natural variant9921T → P.
Corresponds to variant rs7291444 [ dbSNP | Ensembl ].
VAR_050546
Natural variant9931V → A.
Corresponds to variant rs34798212 [ dbSNP | Ensembl ].
VAR_050547
Natural variant10911N → S.
Corresponds to variant rs6008384 [ dbSNP | Ensembl ].
VAR_050548
Natural variant11471I → M.
Corresponds to variant rs36125344 [ dbSNP | Ensembl ].
VAR_034386
Natural variant14111N → D.
Corresponds to variant rs35276226 [ dbSNP | Ensembl ].
VAR_050549
Natural variant15281I → M.
Corresponds to variant rs4823496 [ dbSNP | Ensembl ].
VAR_050550
Natural variant17291V → I.
Corresponds to variant rs9626829 [ dbSNP | Ensembl ].
VAR_050551
Natural variant18751T → I in a breast cancer sample; somatic mutation. Ref.6
VAR_036574

Sequences

Sequence LengthMass (Da)Tools
Q9NTG1 [UniParc].

Last modified September 19, 2002. Version 2.
Checksum: 0878D9FE9106AAE4

FASTA2,253255,449
        10         20         30         40         50         60 
MRPGPALLLL GVGLSLSVGR LPLPPVPRGA QAAVSGAPGG LLRGAPGLGV RGGRALLSLR 

        70         80         90        100        110        120 
PSAVRAGGAV LSGRGSLCFP HGGTGRRWYC LDLRVLLSAQ RLPWPAAPAL ALVDLQLSAR 

       130        140        150        160        170        180 
GGRLSLTWSV RLPRSPGRLA WAFRLRLLGP GAARPASPAA RVSPRSAAPG PRPQQGFVAR 

       190        200        210        220        230        240 
TECPTDGPAR VMLQAVNSSS HRAVESSVSC QINACVIQRV RINTDQKGAP VRLSMQAEAT 

       250        260        270        280        290        300 
INASVQLDCP AARAIAQYWQ VFSVPAVGQA PDWTQPLDLP QLEIRNSPLF IHIPNNSLQW 

       310        320        330        340        350        360 
GVYVFNFTVS ITTGNPKMPE VKDSDAVYVW IVRSSLQAVM LGDANITANF TEQLILDGST 

       370        380        390        400        410        420 
SSDPDADSPL QGLQFFWYCT TDPRNYGGDR IILGSKEVCH PEQANLKWPW ASGPVLTLLP 

       430        440        450        460        470        480 
ETLKGDHVYF FRMVIRKDSR TAFSDKRVHV LQGPKAIAHI TCIENCERNF IVSDRFSLFL 

       490        500        510        520        530        540 
NCTNCASRDF YKWSILSSSG GEMLFDWMGE TVTGRNGAYL SIKAFAFRHF LEAEFSISLY 

       550        560        570        580        590        600 
LACWSGVTSV FRHSFIINHG PQIGECKINP AKGIALITKF VVQCSNFRDK HVPLTYKIIV 

       610        620        630        640        650        660 
SDLHSVGEIS SVKENTLGTI LYLGPQSTVP PSFLPVGMLA SQYGLKIYAQ VYDSLGAFSQ 

       670        680        690        700        710        720 
VTLHATAQAP TDKNSSKTVL NQLLSFTVGP SSLLSTLIQK KDFLPAGYLL YIVASVLNNM 

       730        740        750        760        770        780 
KTELPLRDDR VNLRKHLIDQ SFLLPVSTLV EIGQVVMTIT KLTQKPSEFT WDAQKRATMR 

       790        800        810        820        830        840 
VWQANQALQE YQQKDKRFRS EQIEIVSTGI LMSLSNILKM TSPHQVVKDP FYVIESLSDT 

       850        860        870        880        890        900 
ILANKVPGNK TTSMRTPNFN MYVKKVEKWG INQLFRNEKH CRNCFYPTLN VSSVPGLSAN 

       910        920        930        940        950        960 
GPISTMFCDF TNDLFPWLND QENTSVEVSG FRMTGVADNG SVLEITPDVA EVYLVRKNLT 

       970        980        990       1000       1010       1020 
FAAFNLTVGP NSEVDGSLKK TTGGFSFQVD STVLREVLVH IVTEVMVLFT VLVYTGSQIT 

      1030       1040       1050       1060       1070       1080 
PTALVATFLV PHDIPPFASQ SALFDPACTV KKARVVCLPV SLLQLIAQHS HSPHCTVSIV 

      1090       1100       1110       1120       1130       1140 
LQAPRFVMKL NDKLVRISIF SVQCLDMYGI QSEWREGYCI LGEKTSWYEV HCICKNVVRA 

      1150       1160       1170       1180       1190       1200 
RRQLGTIGLT GIHLHTHYVM AKVIVIPNPV DLRLNIIKSL HQNPVTLFTV LFIILLYVGL 

      1210       1220       1230       1240       1250       1260 
AFWALYRDEM DQHLRGHVIV LPDNDPYDNL CYLVTIFTGS RWGSGTRANV FVQLRGTVST 

      1270       1280       1290       1300       1310       1320 
SDVHCLSHPH FTTLYRGSIN TFLLTTKSDL GDIHSIRVWH NNEGRSPSWY LSRIKVENLF 

      1330       1340       1350       1360       1370       1380 
SRHIWLFICQ KWLSVDTTLD RTFHVTHPDE RLTRKDFFFI DVSSNLRKNH MWFSIFASVV 

      1390       1400       1410       1420       1430       1440 
AKTFNRLQRL SCCLAMLLSS LLCNIMFFNL NRQEQTESRE RKYMRSMMIG IESVLITIPV 

      1450       1460       1470       1480       1490       1500 
QLLITFLFTC SQRKPQADLK EVSPQKHPLM SEASEHWEEY LRKWHAYETA KVHPREVAKP 

      1510       1520       1530       1540       1550       1560 
ASKGKPRLPK ASPKATSKPK HRHRKAQIKT PETLGPNTNS NNNIEDDQDV HSEQHPSQKD 

      1570       1580       1590       1600       1610       1620 
LQQLKKKPRI VLPWWCVYVA WFLVFATSSI SSFFIVFYGL TYGYDKSIEW LFASFCSFCQ 

      1630       1640       1650       1660       1670       1680 
SVLLVQPSKI ILLSGFRTNK PKYCKNLSWS TKYKYTEIRL DGMRMHPEEM QRIHDQIVRI 

      1690       1700       1710       1720       1730       1740 
RGTRMYQPLT EDEIRIFKRK KRIKRRALLF LSYILTHFIF LALLLILIVL LRHTDCFYYN 

      1750       1760       1770       1780       1790       1800 
QFIRDRFSMD LATVTKLEDI YRWLNSVLLP LLHNDLNPTF LPESSSKILG LPLMRQVRAK 

      1810       1820       1830       1840       1850       1860 
SSEKMCLPAE KFVQNSIRRE IHCHPKYGID PEDTKNYSGF WNEVDKQAID ESTNGFTYKP 

      1870       1880       1890       1900       1910       1920 
QGTQWLYYSY GLLHTYGSGG YALYFFPEQQ RFNSTLRLKE LQESNWLDEK TWAVVLELTT 

      1930       1940       1950       1960       1970       1980 
FNPDINLFCS ISVIFEVSQL GVVNTSISLH SFSLADFDRK ASAEIYLYVA ILIFFLAYVV 

      1990       2000       2010       2020       2030       2040 
DEGCIIMQER ASYVRSVYNL LNFALKCIFT VLIVLFLRKH FLATGIIRFY LSNPEDFIPF 

      2050       2060       2070       2080       2090       2100 
HAVSQVDHIM RIILGFLLFL TILKTLRYSR FFYDVRLAQR AIQAALPGIC HMAFVVSVYF 

      2110       2120       2130       2140       2150       2160 
FVYMAFGYLV FGQHEWNYSN LIHSTQTVFS YCVSAFQNTE FSNNRILGVL FLSSFMLVMI 

      2170       2180       2190       2200       2210       2220 
CVLINLFQAV ILSAYEEMKQ PVYEEPSDEV EAMTYLCRKL RTMFSFLTSQ SKAKDEPEFF 

      2230       2240       2250 
IDMLYGQPEK NSHRYLGLKT RNINGKKMVY LVV 

« Hide

References

« Hide 'large scale' references
[1]"Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein."
Hughes J., Ward C.J., Aspinwall R., Butler R., Harris P.C.
Hum. Mol. Genet. 8:543-549(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Testis.
[2]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1829-2253.
Tissue: Testis.
[5]"Polycystin channels and kidney disease."
Stayner C., Zhou J.
Trends Pharmacol. Sci. 22:543-546(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[6]"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: VARIANTS [LARGE SCALE ANALYSIS] GLY-669 AND ILE-1875.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRT46355.
RefSeqNP_006062.1. NM_006071.1.
UniGeneHs.241383.

3D structure databases

ProteinModelPortalQ9NTG1.
SMRQ9NTG1. Positions 1232-1336, 2087-2182.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115625. 2 interactions.
IntActQ9NTG1. 1 interaction.
STRING9606.ENSP00000253255.

PTM databases

PhosphoSiteQ9NTG1.

Polymorphism databases

DMDM23396800.

Proteomic databases

PaxDbQ9NTG1.
PRIDEQ9NTG1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000253255; ENSP00000253255; ENSG00000130943.
GeneID10343.
KEGGhsa:10343.
UCSCuc003bhh.3. human.

Organism-specific databases

CTD10343.
GeneCardsGC22M046651.
HGNCHGNC:9015. PKDREJ.
HPAHPA034587.
MIM604670. gene.
neXtProtNX_Q9NTG1.
PharmGKBPA33347.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG303643.
HOVERGENHBG053603.
InParanoidQ9NTG1.
OMAVYFFRMV.
OrthoDBEOG7BW0HJ.
PhylomeDBQ9NTG1.
TreeFamTF316484.

Gene expression databases

ArrayExpressQ9NTG1.
BgeeQ9NTG1.
CleanExHS_PKDREJ.
GenevestigatorQ9NTG1.

Family and domain databases

Gene3D2.60.60.20. 1 hit.
InterProIPR000203. GPS.
IPR008976. Lipase_LipOase.
IPR002859. PKD/REJ-like.
IPR013122. PKD1_2_channel.
IPR003915. PKD_2.
IPR001024. PLAT/LH2_dom.
IPR014010. REJ-like.
[Graphical view]
PfamPF08016. PKD_channel. 1 hit.
PF01477. PLAT. 1 hit.
PF02010. REJ. 1 hit.
[Graphical view]
PRINTSPR01433. POLYCYSTIN2.
SMARTSM00303. GPS. 1 hit.
[Graphical view]
SUPFAMSSF49723. SSF49723. 1 hit.
PROSITEPS50095. PLAT. 1 hit.
PS51111. REJ. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi10343.
NextBio39223.
PROQ9NTG1.
SOURCESearch...

Entry information

Entry namePKDRE_HUMAN
AccessionPrimary (citable) accession number: Q9NTG1
Secondary accession number(s): B1AJY3, O95850
Entry history
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: September 19, 2002
Last modified: April 16, 2014
This is version 108 of the entry and version 2 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 22

Human chromosome 22: entries, gene names and cross-references to MIM