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PR01304

Identifier
NORRIEDSEASE  [View Relations]  [View Alignment]  
Accession
PR01304
No. of Motifs
6
Creation Date
17-FEB-2000
Title
Norrie disease protein signature
Database References
Literature References
1. CHEN, Z.Y., HENDRIKS, R.W., JOBLING, M.A., POWELL, J.F., 
BREAKEFIELD, X.O., SIMS, K.B. AND CRAIG, I.W.
Isolation and characterization of a candidate gene for Norrie disease.
NAT.GENET. 1 204-208 (1992). 
 
2. BERGER, W., MEINDL, A., VAN DE POL, T.J., CREMERS, F.P., ROPERS, H.H.,
DOERNER, C., MONACO, A., BERGEN, A.A., LEBO, R. AND WARBURG, M.
Isolation of a candidate gene for Norrie disease by positional cloning.
NAT.GENET. 1 199-203 (1992). 
 
3. MEITINGER, T., MEINDL, A., BORK, P., ROST, B., SANDER, C., HAASEMANN, M.
AND MURKEN, J.
Molecular modelling of the Norrie disease protein predicts a cystine knot
growth factor tertiary structure.
NAT.GENET. 5 376-380 (1993). 

Documentation
Norrie disease is a severe, X-linked, recessive neurodevelopmental disorder
characterised by progressive atrophy of the eyes, deafness and mental 
retardation [1,2]. The Norrie disease gene is expressed in retina, choroid
and foetal brain [2]. X-linked Familial Exudative Vitreoretinopathy (XLFEVR)
is a hereditary eye disorder that affects both the retina and the vitreous
body and is characterised by abnormal vascularisation of the peripheral
retina [3]. It has been shown that phenotypes of both XLFEVR and Norrie
disease can result from mutations in the same gene [3].
 
Norrie disease protein (NDP) is thought to have a tertiary structure
similar to that of transforming growth factor beta (TGF beta) [4].
Molecular modelling studies have suggested that NDP is a member of an
emerging family of growth factors containing a cystine knot motif [4].
NDP is thought to be involved in a pathway that regulates neural cell
differentiation and proliferation, and may have a role in neuroectodermal
cell-cell interaction.
 
NORRIEDSEASE is a 6-element fingerprint that provides a signature for
Norrie disease proteins. The fingerprint was derived from an initial
alignment of 2 sequences: the motifs were drawn from conserved regions
spanning the full alignment length - motif 1 resides at the N-terminus; 
and motifs 2-6 span the disulphide-linked domain. A single iteration on
SPTR37_10f was required to reach convergence, no further sequences being
identified beyond the starting set.
Summary Information
2 codes involving  6 elements
0 codes involving 5 elements
0 codes involving 4 elements
0 codes involving 3 elements
0 codes involving 2 elements
Composite Feature Index
6222222
5000000
4000000
3000000
2000000
123456
True Positives
NDP_HUMAN     NDP_MOUSE     
Sequence Titles
NDP_HUMAN   NORRIE DISEASE PROTEIN - HOMO SAPIENS (HUMAN). 
NDP_MOUSE NORRIE DISEASE PROTEIN HOMOLOG - MUS MUSCULUS (MOUSE).
Scan History
SPTR37_10f 1  100  NSINGLE    
Initial Motifs
Motif 1  width=23
Element Seqn Id St Int Rpt
SMLSLLVIMGDTDSKTDSSFIMD NDP_HUMAN 11 11 -
SMLSLLAIMGDTDSKTDSSFLMD NDP_MOUSE 11 11 -

Motif 2 width=25
Element Seqn Id St Int Rpt
MRHHYVDSISHPLYKCSSKMVLLAR NDP_HUMAN 40 6 -
MRHHYVDSISHPLYKCSSKMVLLAR NDP_MOUSE 38 4 -

Motif 3 width=20
Element Seqn Id St Int Rpt
CEGHCSQASRSEPLVSFSTV NDP_HUMAN 65 0 -
CEGHCSQASRSEPLVSFSTV NDP_MOUSE 63 0 -

Motif 4 width=17
Element Seqn Id St Int Rpt
KQPFRSSCHCCRPQTSK NDP_HUMAN 86 1 -
KQPFRSSCHCCRPQTSK NDP_MOUSE 84 1 -

Motif 5 width=14
Element Seqn Id St Int Rpt
KLKALRLRCSGGMR NDP_HUMAN 102 -1 -
KLKALRLRCSGGMR NDP_MOUSE 100 -1 -

Motif 6 width=19
Element Seqn Id St Int Rpt
RLTATYRYILSCHCEECNS NDP_HUMAN 115 -1 -
RLTATYRYILSCHCEECSS NDP_MOUSE 113 -1 -
Final Motifs
Motif 1  width=23
Element Seqn Id St Int Rpt
SMLSLLVIMGDTDSKTDSSFIMD NDP_HUMAN 11 11 -
SMLSLLAIMGDTDSKTDSSFLMD NDP_MOUSE 11 11 -

Motif 2 width=25
Element Seqn Id St Int Rpt
MRHHYVDSISHPLYKCSSKMVLLAR NDP_HUMAN 40 6 -
MRHHYVDSISHPLYKCSSKMVLLAR NDP_MOUSE 38 4 -

Motif 3 width=20
Element Seqn Id St Int Rpt
CEGHCSQASRSEPLVSFSTV NDP_HUMAN 65 0 -
CEGHCSQASRSEPLVSFSTV NDP_MOUSE 63 0 -

Motif 4 width=17
Element Seqn Id St Int Rpt
KQPFRSSCHCCRPQTSK NDP_HUMAN 86 1 -
KQPFRSSCHCCRPQTSK NDP_MOUSE 84 1 -

Motif 5 width=14
Element Seqn Id St Int Rpt
KLKALRLRCSGGMR NDP_HUMAN 102 -1 -
KLKALRLRCSGGMR NDP_MOUSE 100 -1 -

Motif 6 width=19
Element Seqn Id St Int Rpt
RLTATYRYILSCHCEECNS NDP_HUMAN 115 -1 -
RLTATYRYILSCHCEECSS NDP_MOUSE 113 -1 -