SPRINT Home UMBER Home Contents Standard Search Advanced Search Relation Search

==SPRINT==> PRINTS View



  selected as


PR01222

Identifier
ATROPHIN  [View Relations]  [View Alignment]  
Accession
PR01222
No. of Motifs
14
Creation Date
10-NOV-1999
Title
Atrophin signature
Database References

INTERPRO; IPR002951
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. MARGOLIS, R.L., LI, S.H., YOUNG, W.S., WAGSTER, M.V., STINE, O.C., 
KIDWAI, A.S., ASHWORTH, R.G. AND ROSS, C.A.
DRPLA gene (atrophin-1) sequence and mRNA expression in human brain.
BRAIN RES.MOL.BRAIN RES. 36 219-226 (1996). 
 
3. NAGAFUCHI, S., YANAGISAWA, H., OHSAKI, E., SHIRAYAMA, T., TADOKORO, K., 
INOUE, T. AND YAMADA, M.
Structure and expression of the gene responsible for the triplet repeat
disorder, dentatorubral and pallidoluysian atrophy (DRPLA).
NAT.GENET. 8 177-182 (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]. 
Dentatorubral pallidoluysian atrophy (DRPLA, or Smith's disease) is one of 
five disorders now known to result from expansion of a CAG trinucleotide
repeat encoding glutamine [2].
 
The reported full length cDNA sequence encodes a serine repeat and a region
of alternating acidic and basic amino acids, in addition to the glutamine
repeat [2,3]. It is believed that the pathology of DRPLA may arise from the 
altered structure and function of the abnormal protein [2]. Although the 
function of the protein is still unknown, its unusual amino acid composition
may provide clues toward understanding neurodegenerative diseases associated
with triplet repeat expansion [3]. 
 
ATROPHIN is a 14-element fingerprint that provides a signature for 
atrophins. The fingerprint was derived from an initial alignment of 2
sequences: the motifs were drawn from conserved regions spanning virtually
the full alignment length. Two iterations on SPTR37_10f were required to 
reach convergence, at which point a true set comprising 6 sequences was 
identified. Four partial matches were also found, all of which are 
atrophin-related proteins that largely match the C-terminal motifs.
Summary Information
   6 codes involving 14 elements
0 codes involving 13 elements
0 codes involving 12 elements
0 codes involving 11 elements
0 codes involving 10 elements
0 codes involving 9 elements
0 codes involving 8 elements
1 codes involving 7 elements
3 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
1466666666666666
1300000000000000
1200000000000000
1100000000000000
1000000000000000
900000000000000
800000000000000
710000101010111
600000303030333
500000000000000
400000000000000
300000000000000
200000000000000
1234567891011121314
True Positives
DRPL_HUMAN    DRPL_RAT      O35126        P70200        
Q99495 Q99621
True Positive Partials
Codes involving 7 elements
Q62901
Codes involving 6 elements
O43393 O75046 O75359
Sequence Titles
DRPL_HUMAN  ATROPHIN-1 (DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY PROTEIN) - HOMO SAPIENS (HUMAN) 
DRPL_RAT ATROPHIN-1 (DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY PROTEIN) - RATTUS NORVEGICUS (R
O35126 DRPLA - MUS MUSCULUS (MOUSE).
P70200 DRPLA PROTEIN - MUS MUSCULUS (MOUSE).
Q99495 DRPLA PROTEIN - HOMO SAPIENS (HUMAN).
Q99621 DRPLA - HOMO SAPIENS (HUMAN).

Q62901 ATROPHIN-1 RELATED PROTEIN - RATTUS NORVEGICUS (RAT).

O43393 ATROPHIN-1 RELATED PROTEIN - HOMO SAPIENS (HUMAN).
O75046 KIAA0458 PROTEIN - HOMO SAPIENS (HUMAN).
O75359 ATROPHIN-1 LIKE PROTEIN - HOMO SAPIENS (HUMAN).
Scan History
SPTR37_10f 2  20   NSINGLE    
Initial Motifs
Motif 1  width=23
Element Seqn Id St Int Rpt
DGKAEKSRQTAKKARVEEASTPK DRPL_HUMAN 44 44 -
DGKAEKSRQTAKKARVEETSTPK DRPL_RAT 44 44 -

Motif 2 width=25
Element Seqn Id St Int Rpt
YSPGSVENDSDSSSGLSQGPARPYH DRPL_HUMAN 136 69 -
YSPGSVENDSDSSSGLSQGPARPYH DRPL_RAT 135 68 -

Motif 3 width=29
Element Seqn Id St Int Rpt
EKGPTLAPSPHSLPPASSSAPAPPMRFPY DRPL_HUMAN 347 186 -
EKGPTLAPSPHPLPPASSSAPGPPMRYPY DRPL_RAT 348 188 -

Motif 4 width=21
Element Seqn Id St Int Rpt
SNQPPKYTQPSLPSQAVWSQG DRPL_HUMAN 421 45 -
SNQPPKYTQPSLPSQAVWSQG DRPL_RAT 419 42 -

Motif 5 width=25
Element Seqn Id St Int Rpt
GAFPHPLEGGSSHHAHPYAMSPSLG DRPL_HUMAN 508 66 -
GAYPHPLESSNSHHAHPYNMSPSLG DRPL_RAT 506 66 -

Motif 6 width=22
Element Seqn Id St Int Rpt
KQEPAEEYETPESPVPPARSPS DRPL_HUMAN 722 189 -
KQEPAEEYETPESPVPPARSPS DRPL_RAT 720 189 -

Motif 7 width=22
Element Seqn Id St Int Rpt
QEGRAPVECPSLGPVPHRPPFE DRPL_HUMAN 838 94 -
QEGRAPVECPSLGPVPHRPPFE DRPL_RAT 836 94 -

Motif 8 width=25
Element Seqn Id St Int Rpt
SAVATVPPYLGPDTPALRTLSEYAR DRPL_HUMAN 862 2 -
SAVATVPPYLGPDTPALRTLSEYAR DRPL_RAT 860 2 -

Motif 9 width=26
Element Seqn Id St Int Rpt
HPFYVPLGAVDPGLLGYNVPALYSSD DRPL_HUMAN 897 10 -
HPFYVPLGAVDPGLLGYNVPALYSSD DRPL_RAT 895 10 -

Motif 10 width=24
Element Seqn Id St Int Rpt
ERLALAAGPALRPDMSYAERLAAE DRPL_HUMAN 996 73 -
ERLALAAGPALRPDMSYAERLAAE DRPL_RAT 994 73 -

Motif 11 width=22
Element Seqn Id St Int Rpt
DAIHAASASVHPLIDPLASGSH DRPL_HUMAN 1062 42 -
DAIHAASASVHPLIDPLASGSH DRPL_RAT 1060 42 -

Motif 12 width=21
Element Seqn Id St Int Rpt
HPLHENEVLRHQLFAAPYRDL DRPL_HUMAN 1101 17 -
HPLHENEVLRHQLFAAPYRDL DRPL_RAT 1099 17 -

Motif 13 width=23
Element Seqn Id St Int Rpt
SAAHQLQAMHAQSAELQRLALEQ DRPL_HUMAN 1130 8 -
SAAHQLQAMHAQSAELQRLALEQ DRPL_RAT 1128 8 -

Motif 14 width=22
Element Seqn Id St Int Rpt
WLHAHHPLHSVPLPAQEDYYSH DRPL_HUMAN 1155 2 -
WLHAHHPLHSVPLPAQEDYYSH DRPL_RAT 1153 2 -
Final Motifs
Motif 1  width=23
Element Seqn Id St Int Rpt
DGKAEKSRQTAKKARVEEASTPK DRPL_HUMAN 44 44 -
DGKAEKSRQTAKKARVEEASTPK Q99621 44 44 -
DGKAEKSRQTAKKARVEETSTPK DRPL_RAT 44 44 -
DGKAEKSRQTAKKARIEEPSAPK O35126 44 44 -
DGKAEKSRQTAKKARIEEPSAPK P70200 44 44 -
DGKAEKSRQTAKKARVEEASTPK Q99495 44 44 -

Motif 2 width=25
Element Seqn Id St Int Rpt
YSPGSVENDSDSSSGLSQGPARPYH DRPL_HUMAN 136 69 -
YSPGSVENDSDSSSGLSQGPARPYH Q99621 136 69 -
YSPGSVENDSDSSSGLSQGPARPYH DRPL_RAT 135 68 -
YSPGSVENDSDSSSGLSQGPARPYH O35126 136 69 -
YSPGSVENDSDSSSGLSQGPARPYH P70200 136 69 -
YSPGSVENDSDSSSGLSQGPARPYH Q99495 136 69 -

Motif 3 width=29
Element Seqn Id St Int Rpt
EKGPTLAPSPHSLPPASSSAPAPPMRFPY DRPL_HUMAN 347 186 -
EKGPTLAPSPHSLPPASSSAPAPPMRFPY Q99621 347 186 -
EKGPTLAPSPHPLPPASSSAPGPPMRYPY DRPL_RAT 348 188 -
EKGPTLAPSPHPLPPASSSAPGPPMRYPY O35126 349 188 -
EKGPTLAPSPHPLPPASSSAPGPPMRYPY P70200 349 188 -
EKGPTLAPSPHSLPPASSSAPAPPMRFPY Q99495 347 186 -

Motif 4 width=21
Element Seqn Id St Int Rpt
SNQPPKYTQPSLPSQAVWSQG DRPL_HUMAN 421 45 -
SNQPPKYTQPSLPSQAVWSQG Q99621 421 45 -
SNQPPKYTQPSLPSQAVWSQG DRPL_RAT 419 42 -
SNQPPKYTQPSLPSQAVWSQG O35126 420 42 -
SNQPPKYTQPSLPSQAVWSQG P70200 420 42 -
SNQPPKYTQPSLPSQAVWSQG Q99495 421 45 -

Motif 5 width=25
Element Seqn Id St Int Rpt
GAFPHPLEGGSSHHAHPYAMSPSLG DRPL_HUMAN 508 66 -
GAFPHPLEGGSSHHAHPYAMSPSLG Q99621 513 71 -
GAYPHPLESSNSHHAHPYNMSPSLG DRPL_RAT 506 66 -
GAYPHPLESSNSHHAHPYNMSPSLG O35126 499 58 -
GAYPHPLESSNSHHAHPYNMSPSLG P70200 499 58 -
GAFPHPLEGGSSHHAHPYAMSPSLG Q99495 508 66 -

Motif 6 width=22
Element Seqn Id St Int Rpt
KQEPAEEYETPESPVPPARSPS DRPL_HUMAN 722 189 -
KQEPAEEYETPESPVPPARSPS Q99621 727 189 -
KQEPAEEYETPESPVPPARSPS DRPL_RAT 720 189 -
KQEPAEEYEPPESPVPPARSPS O35126 712 188 -
KQEPAEEYEPPESPVPPARSPS P70200 712 188 -
KQEPAEEYETPESPVPPARSPS Q99495 722 189 -

Motif 7 width=22
Element Seqn Id St Int Rpt
QEGRAPVECPSLGPVPHRPPFE DRPL_HUMAN 838 94 -
QEGRAPVECPSLGPVPHRPPFE Q99621 843 94 -
QEGRAPVECPSLGPVPHRPPFE DRPL_RAT 836 94 -
QEGRAPVECPSLGPVPHRPPFE O35126 828 94 -
QEGRAPVECPSLGPVPHRPPFE P70200 828 94 -
QEGRAPVECPSLGPVPHRPPFE Q99495 838 94 -

Motif 8 width=25
Element Seqn Id St Int Rpt
SAVATVPPYLGPDTPALRTLSEYAR DRPL_HUMAN 862 2 -
SAVATVPPYLGPDTPALRTLSEYAR Q99621 867 2 -
SAVATVPPYLGPDTPALRTLSEYAR DRPL_RAT 860 2 -
SAVATVPPYLGPDTPALRTLSEYAR O35126 852 2 -
SAVATVPPYLGPDTPALRTLSEYAR P70200 852 2 -
SAVATVPPYLGPDTPALRTLSEYAR Q99495 862 2 -

Motif 9 width=26
Element Seqn Id St Int Rpt
HPFYVPLGAVDPGLLGYNVPALYSSD DRPL_HUMAN 897 10 -
HPFYVPLGAVDPGLLGYNVPALYSSD Q99621 902 10 -
HPFYVPLGAVDPGLLGYNVPALYSSD DRPL_RAT 895 10 -
HPFYVPLGAVDPGLLGYNVPALYSSD O35126 887 10 -
HPFYVPLGAVDPGLLGYNVPALYSSD P70200 887 10 -
HPFYVPLGAVDPGLLGYNVPALYSSD Q99495 897 10 -

Motif 10 width=24
Element Seqn Id St Int Rpt
ERLALAAGPALRPDMSYAERLAAE DRPL_HUMAN 996 73 -
ERLALAAGPALRPDMSYAERLAAE Q99621 1001 73 -
ERLALAAGPALRPDMSYAERLAAE DRPL_RAT 994 73 -
ERLALAAGPALRPDMSYAERLAAE O35126 986 73 -
ERLALAAGPALRPDMSYAERLAAE P70200 986 73 -
RTSSAGSWASLRPDMSYAERLAAE Q99495 993 70 -

Motif 11 width=22
Element Seqn Id St Int Rpt
DAIHAASASVHPLIDPLASGSH DRPL_HUMAN 1062 42 -
DAIHAASASVHPLIDPLASGSH Q99621 1067 42 -
DAIHAASASVHPLIDPLASGSH DRPL_RAT 1060 42 -
DAIHAASASVHPLIDPLASGSH O35126 1052 42 -
DAIHAASASVHPLIDPLASGSH P70200 1052 42 -
DAIHAASASVHPLIDPLASGSH Q99495 1059 42 -

Motif 12 width=21
Element Seqn Id St Int Rpt
HPLHENEVLRHQLFAAPYRDL DRPL_HUMAN 1101 17 -
HPLHENEVLRHQLFAAPYRDL Q99621 1106 17 -
HPLHENEVLRHQLFAAPYRDL DRPL_RAT 1099 17 -
HPLHENEVLRHQLFAAPYRDL O35126 1091 17 -
HPLHENEVLRHQLFAAPYRDL P70200 1091 17 -
HPLHENEVLRHQLFAAPYRDL Q99495 1098 17 -

Motif 13 width=23
Element Seqn Id St Int Rpt
SAAHQLQAMHAQSAELQRLALEQ DRPL_HUMAN 1130 8 -
SAAHQLQAMHAQSAELQRLALEQ Q99621 1135 8 -
SAAHQLQAMHAQSAELQRLALEQ DRPL_RAT 1128 8 -
SAAHQLQAMHAQSAELQRLALEQ O35126 1120 8 -
SAAHQLQAMHAQSAELQRLALEQ P70200 1120 8 -
SAAHQLQAMHAQSAELQRLALEQ Q99495 1127 8 -

Motif 14 width=22
Element Seqn Id St Int Rpt
WLHAHHPLHSVPLPAQEDYYSH DRPL_HUMAN 1155 2 -
WLHAHHPLHSVPLPAQEDYYSH Q99621 1160 2 -
WLHAHHPLHSVPLPAQEDYYSH DRPL_RAT 1153 2 -
WLHAHHPLHSVPLPAQEDYYSH O35126 1145 2 -
WLHAHHPLHSVPLPAQEDYYSH P70200 1145 2 -
WLHAHHPLHSVPLPAQEDYYSH Q99495 1152 2 -