Q9NTG1 (PKDRE_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Polycystic kidney disease and receptor for egg jelly-related protein

Alternative name(s):
PKD and REJ homolog

Gene names

Name:

PKDREJ

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2253 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Signal Transmembrane Transmembrane helix
Molecular function	Ion channel
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	acrosome reaction Traceable author statement Ref.1. Source: ProtInc ion transport Inferred from electronic annotation. Source: UniProtKB-KW neuropeptide signaling pathway Inferred from electronic annotation. Source: InterPro regulation of acrosome reaction Inferred from electronic annotation. Source: Compara
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW membrane Traceable author statement Ref.1. Source: ProtInc plasma membrane Inferred from electronic annotation. Source: Compara
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 19	19	Potential
	Chain	20 – 2253	2234	Polycystic kidney disease and receptor for egg jelly-related protein		PRO_0000024299
Regions
	Topological domain	20 – 1184	1165	Extracellular Potential
	Transmembrane	1185 – 1205	21	Helical; Potential
	Topological domain	1206 – 1389	184	Cytoplasmic Potential
	Transmembrane	1390 – 1410	21	Helical; Potential
	Topological domain	1411 – 1427	17	Extracellular Potential
	Transmembrane	1428 – 1448	21	Helical; Potential
	Topological domain	1449 – 1576	128	Cytoplasmic Potential
	Transmembrane	1577 – 1597	21	Helical; Potential
	Topological domain	1598 – 1607	10	Extracellular Potential
	Transmembrane	1608 – 1628	21	Helical; Potential
	Topological domain	1629 – 1708	80	Cytoplasmic Potential
	Transmembrane	1709 – 1729	21	Helical; Potential
	Topological domain	1730 – 1966	237	Extracellular Potential
	Transmembrane	1967 – 1987	21	Helical; Potential
	Topological domain	1988 – 1996	9	Cytoplasmic Potential
	Transmembrane	1997 – 2017	21	Helical; Potential
	Topological domain	2018 – 2042	25	Extracellular Potential
	Transmembrane	2043 – 2063	21	Helical; Potential
	Topological domain	2064 – 2091	28	Cytoplasmic Potential
	Transmembrane	2092 – 2112	21	Helical; Potential
	Topological domain	2113 – 2145	33	Extracellular Potential
	Transmembrane	2146 – 2166	21	Helical; Potential
	Topological domain	2167 – 2253	87	Cytoplasmic Potential
	Domain	215 – 913	699	REJ
	Domain	1230 – 1347	118	PLAT
Amino acid modifications
	Glycosylation	197	1	N-linked (GlcNAc...) Potential
	Glycosylation	242	1	N-linked (GlcNAc...) Potential
	Glycosylation	295	1	N-linked (GlcNAc...) Potential
	Glycosylation	306	1	N-linked (GlcNAc...) Potential
	Glycosylation	345	1	N-linked (GlcNAc...) Potential
	Glycosylation	349	1	N-linked (GlcNAc...) Potential
	Glycosylation	481	1	N-linked (GlcNAc...) Potential
	Glycosylation	674	1	N-linked (GlcNAc...) Potential
	Glycosylation	849	1	N-linked (GlcNAc...) Potential
	Glycosylation	890	1	N-linked (GlcNAc...) Potential
	Glycosylation	923	1	N-linked (GlcNAc...) Potential
	Glycosylation	939	1	N-linked (GlcNAc...) Potential
	Glycosylation	958	1	N-linked (GlcNAc...) Potential
	Glycosylation	965	1	N-linked (GlcNAc...) Potential
	Glycosylation	1836	1	N-linked (GlcNAc...) Potential
	Glycosylation	1893	1	N-linked (GlcNAc...) Potential
	Glycosylation	1944	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	26	1	V → A. Corresponds to variant rs7293071 [ dbSNP | Ensembl ].		VAR_059550
	Natural variant	528	1	R → Q. Corresponds to variant rs6008394 [ dbSNP | Ensembl ].		VAR_050544
	Natural variant	669	1	A → G in a breast cancer sample; somatic mutation. Ref.6		VAR_036573
	Natural variant	914	1	L → P. Corresponds to variant rs6519993 [ dbSNP | Ensembl ].		VAR_050545
	Natural variant	992	1	T → P. Corresponds to variant rs7291444 [ dbSNP | Ensembl ].		VAR_050546
	Natural variant	993	1	V → A. Corresponds to variant rs34798212 [ dbSNP | Ensembl ].		VAR_050547
	Natural variant	1091	1	N → S. Corresponds to variant rs6008384 [ dbSNP | Ensembl ].		VAR_050548
	Natural variant	1147	1	I → M. Corresponds to variant rs36125344 [ dbSNP | Ensembl ].		VAR_034386
	Natural variant	1411	1	N → D. Corresponds to variant rs35276226 [ dbSNP | Ensembl ].		VAR_050549
	Natural variant	1528	1	I → M. Corresponds to variant rs4823496 [ dbSNP | Ensembl ].		VAR_050550
	Natural variant	1729	1	V → I. Corresponds to variant rs9626829 [ dbSNP | Ensembl ].		VAR_050551
	Natural variant	1875	1	T → I in a breast cancer sample; somatic mutation. Ref.6		VAR_036574

Sequences

	Sequence		Length	Mass (Da)
	Q9NTG1 [UniParc]. Last modified September 19, 2002. Version 2. Checksum: 0878D9FE9106AAE4	FASTA	2,253	255,449
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.
IPI	IPI00005750.
PIR	T46355.
RefSeq	NP_006062.1. NM_006071.1.
UniGene	Hs.241383.
3D structure databases
ProteinModelPortal	Q9NTG1.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000253255.
PTM databases
PhosphoSite	Q9NTG1.
Polymorphism databases
DMDM	23396800.
Proteomic databases
PaxDb	Q9NTG1.
PRIDE	Q9NTG1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000253255; ENSP00000253255; ENSG00000130943.
GeneID	10343.
KEGG	hsa:10343.
UCSC	uc003bhh.3. human.
Organism-specific databases
CTD	10343.
GeneCards	GC22M046651.
HGNC	HGNC:9015. PKDREJ.
HPA	HPA034587.
MIM	604670. gene.
neXtProt	NX_Q9NTG1.
PharmGKB	PA33347.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG303643.
HOVERGEN	HBG053603.
InParanoid	Q9NTG1.
OMA	FCSISVI.
OrthoDB	EOG4TTGGZ.
PhylomeDB	Q9NTG1.
Gene expression databases
ArrayExpress	Q9NTG1.
Bgee	Q9NTG1.
CleanEx	HS_PKDREJ.
Genevestigator	Q9NTG1.
GermOnline	ENSG00000130943. Homo sapiens.
Family and domain databases
Gene3D	2.60.60.20. 1 hit.
InterPro	IPR000203. GPS_dom. IPR008976. Lipase_LipOase. IPR001024. LipOase_LH2. IPR002859. PKD/REJ-like. IPR013122. PKD1_2_channel. IPR003915. PKD_2. IPR014010. REJ-like. [Graphical view]
Pfam	PF08016. PKD_channel. 1 hit. PF01477. PLAT. 1 hit. PF02010. REJ. 1 hit. [Graphical view]
PRINTS	PR01433. POLYCYSTIN2.
SMART	SM00303. GPS. 1 hit. [Graphical view]
SUPFAM	SSF49723. Lipase_LipOase. 1 hit.
PROSITE	PS50095. PLAT. 1 hit. PS51111. REJ. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	10343.
NextBio	39223.
SOURCE	Search...

Entry information

Entry name

PKDRE_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 98 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.