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PR01433

Identifier
POLYCYSTIN2  [View Relations]  [View Alignment]  
Accession
PR01433
No. of Motifs
10
Creation Date
30-OCT-2000
Title
Polycystic kidney disease type 2 protein (PKD2) signature 
Database References
Literature References
1. WARD, C.J., TURLEY, H., ONG, A.C.M., COMLEY, M., BIDDOLPH, S.,
CHETTY, R., RATCLIFFE, P.J., GATTER, K. AND HARRIS, P.C.
Polycystin, the polycystic kidney disease 1 protein, is expressed by
epithelial cells in fetal, adult, and polycystic kidney.
PROC.NATL.ACAD.SCI.U.S.A. 93(4) 1524-1528 (1996).
 
2. WARD, C.J., PERAL, B., HUGHES, J., THOMAS, S., GAMBLE, V., 
MACCARTHY, A.B., SLOANE-STANLEY, J., BUCKLE, V.J., KEARNEY, L., HIGGS, D.R.,
RATCLIFFE, P.J., HARRIS, P.C., ROELFSEMA, J.H., SPRUIT, L.L., SARIS, J.J., 
DAUWERSE, H.G., PETERS, D.J.M., BREUNING, M.H., NELLIST, M., BROOK-CARTER,
P.T., MAHESHWAR, M.M., CORDEIRO, I., SANTOS, H., CABRAL, P., SAMPSON, J.R.,
JANSSEN, B., HESSELING-JANSSEN, A.L.W., VAN DEN OUWELAND, A.M.W., 
EUSSEN, B., VERHOEF, S., LINDHOUT, D. AND HALLEY, D.J.J. 
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies
within a duplicated region on chromosome 16. The European Polycystic Kidney
Disease Consortium.
CELL 77 881-894 (1994). 
 
3. MOCHIZUKI, T., WU G., HAYASHI, T., XENOPHONTOS, S.L., VELDHUISEN, B., 
SARIS J.J., REYNOLDS, D.M., CAI, Y., GABOW, P.A., PIERIDES, A.,
KIMBERLING, W.J., BREUNING, M.H., DELTAS, C.C., PETERS, D.J. AND SOMLO, S.
PKD2, a gene for polycystic kidney disease that encodes an integral membrane
protein.
SCIENCE 272 1339-1342 (1996).
 
4. VELDHUISEN, B., SARIS, J.J., DE HAIJ, S., HAYASHI, T., REYNOLDS, D.M.,
MOCHIZUKI, T., ELLES, R., FOSSDAL, R., BOGDANOVA, N., VAN DIJK, M.A., 
COTO, E., RAVINE, D., NORBY, S., VERELLEN-DUMOULIN, C., BREUNING, M.H.,
SOMLO, S. AND PETERS, D.J.
A spectrum of mutations in the second gene for autosomal dominant
polycystic kidney disease (PKD2).
AM.J.HUM.GENET. 61 547-555 (1997). 

Documentation
Polycystic kidney diseases (PKD) are disorders characterised by large
numbers of cysts distributed throughout grossly-enlarged kidneys. Cyst
development is associated with impairment of kidney function, and ultimately
kidney failure and death [1,2]. Most cases of autosomal dominant PKD result
from mutations in the PKD1 gene that cause premature protein termination. 
 
A second gene for autosomal dominant polycystic kidney disease has been
identified by positional cloning [3]. The predicted 968-amino acid sequence 
of the PKD2 gene product (polycystin-2) contains 6 transmembrane domains, 
with intracellular N- and C-termini [3]. Polycystin-2 shares some similarity
with the family of voltage-activated calcium (and sodium) channels, and 
contains a potential calcium-binding domain [3].
 
Polycystin-2 is strongly expressed in ovary, foetal and adult kidney, 
testis, and small intestine. Polycystin-1 requires the presence of this
protein for stable expression and is believed to interact with it via its
C-terminus. All mutations between exons 1 and 11 result in a truncated 
polycystin-2 that lacks a calcium-binding EF-hand domain and the cytoplasmic
domains required for the interaction of polycystin-2 with polycystin-1 [4].
PKD2, although clinically milder than PKD1, has a deleterious impact on
life expectancy.
 
POLYCYSTIN2 is a 10-element fingerprint that provides a signature for 
polycystin-2. The fingerprint was derived from an initial alignment of 2
sequences: the motifs were drawn largely from hydrophobic segments spanning
the C-terminal half of the alignment. Two iterations on SPTR39_14f were 
required to reach convergence, at which point a true set comprising 5 
sequences was identified. Several partial matches were also found: Q9U1S7
and Q9UNJ0 are polycystin-2-like proteins from C.elegans and H.sapiens; and
Q9VK95, Q9W4X5 and Q9VVZ8 are Drosophila proteins that share similarity with
motifs 2, 3, 6, 7 and 8.
Summary Information
   5 codes involving 10 elements
0 codes involving 9 elements
1 codes involving 8 elements
1 codes involving 7 elements
0 codes involving 6 elements
0 codes involving 5 elements
1 codes involving 4 elements
0 codes involving 3 elements
2 codes involving 2 elements
Composite Feature Index
105555555555
90000000000
81111011101
71110111100
60000000000
50000000000
40100011100
30000000000
20220000000
12345678910
True Positives
PKD2_HUMAN    PKD2_MOUSE    Q9QWP0        Q9UP35        
Q9Z194
True Positive Partials
Codes involving 8 elements
Q9U1S7
Codes involving 7 elements
Q9UNJ0
Codes involving 4 elements
Q9VK95
Codes involving 2 elements
Q9VVZ8 Q9W4X5
Sequence Titles
PKD2_HUMAN  POLYCYSTIN 2 (AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE TYPE II PROTEIN) (POLYCYSTWIN) (R48321) - Homo sapiens (Human). 
PKD2_MOUSE POLYCYSTIN 2 - Mus musculus (Mouse).
Q9QWP0 POLYCYSTIN - Mus musculus (Mouse).
Q9UP35 POLYCYSTIN-L - Homo sapiens (Human).
Q9Z194 POLYCYSTIN - Mus musculus (Mouse).

Q9U1S7 PKD-2 PROTEIN - Caenorhabditis elegans.

Q9UNJ0 POLYCYSTIN-2-LIKE PROTEIN - Homo sapiens (Human).

Q9VK95 CG6504 PROTEIN - Drosophila melanogaster (Fruit fly).

Q9VVZ8 CG9472 PROTEIN - Drosophila melanogaster (Fruit fly).
Q9W4X5 CG13762 PROTEIN - Drosophila melanogaster (Fruit fly).
Scan History
SPTR39_14f 1  50   NSINGLE    
Initial Motifs
Motif 1  width=22
Element Seqn Id St Int Rpt
LTYGMMSSNVYYYTRMMSQLFL PKD2_HUMAN 237 237 -
LTYGMMSSNVYYYTRTLSQLFI PKD2_MOUSE 235 235 -
LTYGMMSSNVYYYTRTLSQLFI Q9Z194 235 235 -

Motif 2 width=20
Element Seqn Id St Int Rpt
FIFYENLLLGVPRIRQLRVR PKD2_HUMAN 308 49 -
FIFYENLLLGVPRLRQLRVR PKD2_MOUSE 306 49 -
FIFYENLLLGVPRLRQLRVR Q9Z194 306 49 -

Motif 3 width=23
Element Seqn Id St Int Rpt
ATFIDFSVYNANINLFCVVRLLV PKD2_HUMAN 421 93 -
AAFIDFSVYNANINLFCVVRLLA PKD2_MOUSE 419 93 -
AAFIDFSVYNANINLFCVVRLLA Q9Z194 419 93 -

Motif 4 width=23
Element Seqn Id St Int Rpt
CEIIFCFFIFYYVVEEILEIRIH PKD2_HUMAN 476 32 -
CEIIFCFFIIYYVVEEILEIRIH PKD2_MOUSE 474 32 -
CEIIFCFFIIYYVVEEILEIRIH Q9Z194 474 32 -

Motif 5 width=21
Element Seqn Id St Int Rpt
WNCLDVVIVVLSVVAIGINIY PKD2_HUMAN 507 8 -
WNCLDVVIVVLSVVAMVINIY PKD2_MOUSE 505 8 -
WNCLDVVIVVLSVVAMVINIY Q9Z194 505 8 -

Motif 6 width=26
Element Seqn Id St Int Rpt
AYWQIQFNNIAAVTVFFVWIKLFKFI PKD2_HUMAN 552 24 -
AYWQIQFNNIAAVMVFLVWIKLFKFI PKD2_MOUSE 550 24 -
AYWQIQFNNISAVMVFLVWIKLFKFI Q9Z194 550 24 -

Motif 7 width=22
Element Seqn Id St Int Rpt
GFAIMFFIIFLAYAQLAYLVFG PKD2_HUMAN 599 21 -
GFTIMFSIIFLAYAQLAYLVFG PKD2_MOUSE 597 21 -
GFTIMFSIIFLAYAQLAYLVFG Q9Z194 597 21 -

Motif 8 width=22
Element Seqn Id St Int Rpt
YFTTFVFFMFFILLNMFLAIIN PKD2_HUMAN 660 39 -
YFTTFVFFMFFILLNMFLAIIN PKD2_MOUSE 658 39 -
YFTTFVFFMFFILLNMFLAIIN Q9Z194 658 39 -

Motif 9 width=20
Element Seqn Id St Int Rpt
LSDLIRKGYHKALVKLKLKK PKD2_HUMAN 700 18 -
LSDLIRKGCQKALVKLKLKR PKD2_MOUSE 698 18 -
LSDLIRKGCQKALVKLKLKR Q9Z194 698 18 -

Motif 10 width=19
Element Seqn Id St Int Rpt
RVDRMEHSIGSIVSKIDAV PKD2_HUMAN 845 125 -
RVDRMEHSIGSIVSKIDAV PKD2_MOUSE 843 125 -
RVDRMEHSIGSIVSKIDAV Q9Z194 843 125 -
Final Motifs
Motif 1  width=22
Element Seqn Id St Int Rpt
LTYGMMSSNVYYYTRMMSQLFL PKD2_HUMAN 237 237 -
LTYGMMSSNVYYYTRTLSQLFI PKD2_MOUSE 235 235 -
LTYGMMSSNVYYYTRTLSQLFI Q9QWP0 235 235 -
LTYGMMSSNVYYYTRTLSQLFI Q9Z194 235 235 -
LTYGMTSSSAYYYTKVMSELFL Q9UP35 117 117 -

Motif 2 width=20
Element Seqn Id St Int Rpt
FIFYENLLLGVPRIRQLRVR PKD2_HUMAN 308 49 -
FIFYENLLLGVPRLRQLRVR PKD2_MOUSE 306 49 -
FIFYENLLLGVPRLRQLRVR Q9QWP0 306 49 -
FIFYENLLLGVPRLRQLRVR Q9Z194 306 49 -
FIYYENMLLGVPRLRQLKVR Q9UP35 187 48 -

Motif 3 width=23
Element Seqn Id St Int Rpt
ATFIDFSVYNANINLFCVVRLLV PKD2_HUMAN 421 93 -
AAFIDFSVYNANINLFCVVRLLA PKD2_MOUSE 419 93 -
AAFIDFSVYNANINLFCVVRLLA Q9QWP0 419 93 -
AAFIDFSVYNANINLFCVVRLLA Q9Z194 419 93 -
VVFIDFSVYNANINLFCVLRLVV Q9UP35 300 93 -

Motif 4 width=23
Element Seqn Id St Int Rpt
CEIIFCFFIFYYVVEEILEIRIH PKD2_HUMAN 476 32 -
CEIIFCFFIIYYVVEEILEIRIH PKD2_MOUSE 474 32 -
CEIIFCFFIIYYVVEEILEIRIH Q9QWP0 474 32 -
CEIIFCFFIIYYVVEEILEIRIH Q9Z194 474 32 -
CEVIFCVFIFYYVVEEILELHIH Q9UP35 355 32 -

Motif 5 width=21
Element Seqn Id St Int Rpt
WNCLDVVIVVLSVVAIGINIY PKD2_HUMAN 507 8 -
WNCLDVVIVVLSVVAMVINIY PKD2_MOUSE 505 8 -
WNCLDVVIVVLSVVAMVINIY Q9QWP0 505 8 -
WNCLDVVIVVLSVVAMVINIY Q9Z194 505 8 -
WNILDLVIILLSIVAVGFHIF Q9UP35 386 8 -

Motif 6 width=26
Element Seqn Id St Int Rpt
AYWQIQFNNIAAVTVFFVWIKLFKFI PKD2_HUMAN 552 24 -
AYWQIQFNNIAAVMVFLVWIKLFKFI PKD2_MOUSE 550 24 -
AYWQIQFNNISAVMVFLVWIKLFKFI Q9QWP0 550 24 -
AYWQIQFNNISAVMVFLVWIKLFKFI Q9Z194 550 24 -
AFWQTQYNNMNAVNLFFAWIKIFKYI Q9UP35 432 25 -

Motif 7 width=22
Element Seqn Id St Int Rpt
GFAIMFFIIFLAYAQLAYLVFG PKD2_HUMAN 599 21 -
GFTIMFSIIFLAYAQLAYLVFG PKD2_MOUSE 597 21 -
GFTIMFSIIFLAYAQLAYLVFG Q9QWP0 597 21 -
GFTIMFSIIFLAYAQLAYLVFG Q9Z194 597 21 -
GFAVMFFIVFFAYAQLGYLLFG Q9UP35 479 21 -

Motif 8 width=22
Element Seqn Id St Int Rpt
YFTTFVFFMFFILLNMFLAIIN PKD2_HUMAN 660 39 -
YFTTFVFFMFFILLNMFLAIIN PKD2_MOUSE 658 39 -
YFTTFVFFMFFILLNMFLAIIN Q9QWP0 658 39 -
YFTTFVFFMFFILLNMFLAIIN Q9Z194 658 39 -
YFVTYVFFVFFVLLNMFLAIIN Q9UP35 540 39 -

Motif 9 width=20
Element Seqn Id St Int Rpt
LSDLIRKGYHKALVKLKLKK PKD2_HUMAN 700 18 -
LSDLIRKGCQKALVKLKLKR PKD2_MOUSE 698 18 -
LSDLIRKGCQKALVKLKLKR Q9QWP0 698 18 -
LSDLIRKGCQKALVKLKLKR Q9Z194 698 18 -
LSDLLKQGYNKTLLRLRLRK Q9UP35 580 18 -

Motif 10 width=19
Element Seqn Id St Int Rpt
RVDRMEHSIGSIVSKIDAV PKD2_HUMAN 845 125 -
RVDRMEHSIGSIVSKIDAV PKD2_MOUSE 843 125 -
RVDRMEHSIGSIVSKIDAV Q9QWP0 843 125 -
RVDRMEHSIGSIVSKIDAV Q9Z194 843 125 -
RVLQLETVLEGVVSQIDAV Q9UP35 713 113 -