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PR01233

Identifier
JOSEPHIN  [View Relations]  [View Alignment]  
Accession
PR01233
No. of Motifs
11
Creation Date
11-NOV-1999
Title
Josephin signature 
Database References

INTERPRO; IPR002950
Literature References
1. LI, S.H., MCINNIS, M.G., MARGOLIS, R.L., ANTONARAKIS, S.E. AND ROSS, C.A.
Novel triplet repeat containing genes in human brain: cloning, expression,
and length polymorphisms.
GENOMICS 16 572-579 (1993). 
 
2. KAWAGUCHI, Y., OKAMOTO, T., TANIWAKI, M., AIZAWA, M., INOUE, M.,
KATAYAMA, S., KAWAKAMI, H., NAKAMURA, S., NISHIMURA, M., AKIGUCHI, I., ET AL..
CAG expansions in a novel gene for Machado-Joseph disease at chromosome
14q32.1.
NAT.GENET. 8 221-228 (1994).

Documentation
Human genes containing triplet repeats can markedly expand in length, leading
to neuropsychiatric disease [1]. Expansion of triplet repeats explains the
phenomenon of anticipation, i.e. the increasing severity or earlier age of
onset in successive generations in a pedigree [1].
 
A novel gene containing CAG repeats has been identified and mapped to
chromosome 14q32.1, the genetic locus for Machado-Joseph disease (MJD) [2].
Normally, the gene contains 13-36 CAG repeats, but most clinically diagnosed
patients and all affected members of a family with the clinical and 
pathological diagnosis of MJD show expansion of the repeat number, from 
68-79 [2]. Similar abnormalities in related genes may give rise to diseases
similar to MJD. 
 
MJD is a neurodegenerative disorder characterised by cerebellar ataxia, 
pyramidal and extra-pyramidal signs, peripheral nerve palsy, external 
ophtalmoplegia, facial and lingual fasciculation and bulging. The disease
is autosomal dominant, with late onset of symptoms, generally after the
fourth decade.
 
JOSEPHIN is an 11-element fingerprint that provides a signature for
josephins. The fingerprint was derived from an initial alignment of 4
sequences: the motifs were drawn from conserved regions spanning virutally
the full alignment length. A single iteration on SPTR37_10f was required to
reach convergence, no further sequences being identified beyond the starting
set. A single partial match was found, O17850, the C.elegans F28F8.6 protein, 
which matches motifs 1 and 3-6.
Summary Information
   4 codes involving 11 elements
0 codes involving 10 elements
0 codes involving 9 elements
0 codes involving 8 elements
0 codes involving 7 elements
0 codes involving 6 elements
1 codes involving 5 elements
0 codes involving 4 elements
0 codes involving 3 elements
0 codes involving 2 elements
Composite Feature Index
1144444444444
1000000000000
900000000000
800000000000
700000000000
600000000000
510111100000
400000000000
300000000000
200000000000
1234567891011
True Positives
MJD1_HUMAN    O15284        O15285        O35815        
True Positive Partials
Codes involving 5 elements
O17850
Sequence Titles
MJD1_HUMAN  MACHADO-JOSEPH DISEASE PROTEIN 1 - HOMO SAPIENS (HUMAN). 
O15284 JOSEPHIN MJD1 - HOMO SAPIENS (HUMAN).
O15285 JOSEPHIN MJD1 - HOMO SAPIENS (HUMAN).
O35815 SPINOCEREBELLAR ATAXIA TYPE 3 - RATTUS NORVEGICUS (RAT).

O17850 F28F8.6 PROTEIN - CAENORHABDITIS ELEGANS.
Scan History
SPTR37_10f 1  35   NSINGLE    
Initial Motifs
Motif 1  width=24
Element Seqn Id St Int Rpt
FHEKQEGSLCAQHCLNNLLQGEYF O15284 5 5 -
FHEKQEGSLCAQHCLNNLLQGEYF O15285 5 5 -
FHEKQEGSLCAQHCLNNLLQGEYF MJD1_HUMAN 5 5 -
FHEKQEGSLCAQHCLNNLLQGEYF O35815 5 5 -

Motif 2 width=22
Element Seqn Id St Int Rpt
ERMRMAEGGVTSEDYRTFLQQP O15284 44 15 -
ERMRMAEGGVTSEDYRTFLQQP O15285 44 15 -
ERMRMAEGGVTSEDYRTFLQQP MJD1_HUMAN 44 15 -
ERLRMAEGGVTSEDYRTFLQQP O35815 44 15 -

Motif 3 width=20
Element Seqn Id St Int Rpt
SGNMDDSGFFSIQVISNALK O15284 66 0 -
SGNMDDSGFFSIQVISNALK O15285 66 0 -
SGNMDDSGFFSIQVISNALK MJD1_HUMAN 66 0 -
SGNMDDSGFFSIQVISNALK O35815 66 0 -

Motif 4 width=20
Element Seqn Id St Int Rpt
PINERSFICNYKEHWFTVRK O15284 106 20 -
PINERSFICNYKEHWFTVRK O15285 106 20 -
PINERSFICNYKEHWFTVRK MJD1_HUMAN 106 20 -
PINERSFICNYKEHWFTVRK O35815 106 20 -

Motif 5 width=21
Element Seqn Id St Int Rpt
GKQWFNLNSLLTGPELISDTY O15284 127 1 -
GKQWFNLNSLLTGPELISDTY O15285 127 1 -
GKQWFNLNSLLTGPELISDTY MJD1_HUMAN 127 1 -
GKQWFNLNSLLTGPELISDTY O35815 127 1 -

Motif 6 width=20
Element Seqn Id St Int Rpt
FLAQLQQEGYSIFVVKGDLP O15284 151 3 -
FLAQLQQEGYSIFVVKGDLP O15285 151 3 -
FLAQLQQEGYSIFVVKGDLP MJD1_HUMAN 151 3 -
FLAQLQQEGYSIFVVKGDLP O35815 151 3 -

Motif 7 width=26
Element Seqn Id St Int Rpt
CEADQLLQMIRVQQMHRPKLIGEELA O15284 172 1 -
CEADQLLQMIRVQQMHRPKLIGEELA O15285 172 1 -
CEADQLLQMIRVQQMHRPKLIGEELA MJD1_HUMAN 172 1 -
CEADQLLQMIKVQQMHRPKLIGEELA O35815 172 1 -

Motif 8 width=24
Element Seqn Id St Int Rpt
KEQRVHKTDLERVLEANDGSGMLD O15284 200 2 -
KEQRVHKTDLERVLEANDGSGMLD O15285 200 2 -
KEQRVHKTDLERMLEANDGSGMLD MJD1_HUMAN 200 2 -
KEQSALKADLERVLEAADGPGMFD O35815 200 2 -

Motif 9 width=23
Element Seqn Id St Int Rpt
LQRALALSRQEIDMEDEEADLRR O15284 229 5 -
LQRALALSRQEIDMEDEEADLRR O15285 229 5 -
LQRALALSRQEIDMEDEEADLRR MJD1_HUMAN 229 5 -
LQRALAMSRQEIDMEDEEADLRR O35815 229 5 -

Motif 10 width=24
Element Seqn Id St Int Rpt
QTSGTNLTSEELRKRREAYFEKQQ O15284 270 18 -
QTSGTNLTSEELRKRREAYFEKQQ O15285 270 18 -
QTSGTNLTSEELRKRREAYFEKQQ MJD1_HUMAN 270 18 -
QTSSTDLSSEELRKRREAYFEKQQ O35815 270 18 -

Motif 11 width=23
Element Seqn Id St Int Rpt
DLSGQSSHPCERPATSSGALGSD O15284 307 13 -
DLSGQSSHPCERPATSSGALGSD O15285 307 13 -
DLSGQSSHPCERPATSSGALGSD MJD1_HUMAN 319 25 -
DRPGYLSYPCERPTTSSGGLRSN O35815 300 6 -
Final Motifs
Motif 1  width=24
Element Seqn Id St Int Rpt
FHEKQEGSLCAQHCLNNLLQGEYF O15284 5 5 -
FHEKQEGSLCAQHCLNNLLQGEYF O15285 5 5 -
FHEKQEGSLCAQHCLNNLLQGEYF MJD1_HUMAN 5 5 -
FHEKQEGSLCAQHCLNNLLQGEYF O35815 5 5 -

Motif 2 width=22
Element Seqn Id St Int Rpt
ERMRMAEGGVTSEDYRTFLQQP O15284 44 15 -
ERMRMAEGGVTSEDYRTFLQQP O15285 44 15 -
ERMRMAEGGVTSEDYRTFLQQP MJD1_HUMAN 44 15 -
ERLRMAEGGVTSEDYRTFLQQP O35815 44 15 -

Motif 3 width=20
Element Seqn Id St Int Rpt
SGNMDDSGFFSIQVISNALK O15284 66 0 -
SGNMDDSGFFSIQVISNALK O15285 66 0 -
SGNMDDSGFFSIQVISNALK MJD1_HUMAN 66 0 -
SGNMDDSGFFSIQVISNALK O35815 66 0 -

Motif 4 width=20
Element Seqn Id St Int Rpt
PINERSFICNYKEHWFTVRK O15284 106 20 -
PINERSFICNYKEHWFTVRK O15285 106 20 -
PINERSFICNYKEHWFTVRK MJD1_HUMAN 106 20 -
PINERSFICNYKEHWFTVRK O35815 106 20 -

Motif 5 width=21
Element Seqn Id St Int Rpt
GKQWFNLNSLLTGPELISDTY O15284 127 1 -
GKQWFNLNSLLTGPELISDTY O15285 127 1 -
GKQWFNLNSLLTGPELISDTY MJD1_HUMAN 127 1 -
GKQWFNLNSLLTGPELISDTY O35815 127 1 -

Motif 6 width=20
Element Seqn Id St Int Rpt
FLAQLQQEGYSIFVVKGDLP O15284 151 3 -
FLAQLQQEGYSIFVVKGDLP O15285 151 3 -
FLAQLQQEGYSIFVVKGDLP MJD1_HUMAN 151 3 -
FLAQLQQEGYSIFVVKGDLP O35815 151 3 -

Motif 7 width=26
Element Seqn Id St Int Rpt
CEADQLLQMIRVQQMHRPKLIGEELA O15284 172 1 -
CEADQLLQMIRVQQMHRPKLIGEELA O15285 172 1 -
CEADQLLQMIRVQQMHRPKLIGEELA MJD1_HUMAN 172 1 -
CEADQLLQMIKVQQMHRPKLIGEELA O35815 172 1 -

Motif 8 width=24
Element Seqn Id St Int Rpt
KEQRVHKTDLERVLEANDGSGMLD O15284 200 2 -
KEQRVHKTDLERVLEANDGSGMLD O15285 200 2 -
KEQRVHKTDLERMLEANDGSGMLD MJD1_HUMAN 200 2 -
KEQSALKADLERVLEAADGPGMFD O35815 200 2 -

Motif 9 width=23
Element Seqn Id St Int Rpt
LQRALALSRQEIDMEDEEADLRR O15284 229 5 -
LQRALALSRQEIDMEDEEADLRR O15285 229 5 -
LQRALALSRQEIDMEDEEADLRR MJD1_HUMAN 229 5 -
LQRALAMSRQEIDMEDEEADLRR O35815 229 5 -

Motif 10 width=24
Element Seqn Id St Int Rpt
QTSGTNLTSEELRKRREAYFEKQQ O15284 270 18 -
QTSGTNLTSEELRKRREAYFEKQQ O15285 270 18 -
QTSGTNLTSEELRKRREAYFEKQQ MJD1_HUMAN 270 18 -
QTSSTDLSSEELRKRREAYFEKQQ O35815 270 18 -

Motif 11 width=23
Element Seqn Id St Int Rpt
DLSGQSSHPCERPATSSGALGSD O15284 307 13 -
DLSGQSSHPCERPATSSGALGSD O15285 307 13 -
DLSGQSSHPCERPATSSGALGSD MJD1_HUMAN 319 25 -
DRPGYLSYPCERPTTSSGGLRSN O35815 300 6 -