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PR00979

Identifier
TAFAZZIN  [View Relations]  [View Alignment]  
Accession
PR00979
No. of Motifs
6
Creation Date
17-AUG-1998  (UPDATE 07-JUN-1999)
Title
Tafazzin signature
Database References

INTERPRO; IPR000872
Literature References
1. BIONE, S., D'ADAMO, P., MAESTRINI, E., GEDEON, A.K., BOLHUIS, P.A.,
AND TONIOLO, D. 
A novel X-linked gene, G4.5. is responsible for Barth syndrome. 
NAT.GENET. 12 385-389 (1996). 

Documentation
Tafazzins [1] are expressed in high levels in cardiac and skeletal muscle. 
As many as 10 isoforms can be present in different amounts in different
tissues. Isoforms with hydrophobic N-termini are thought to be membrane
anchored, while shorter forms, lacking the hydrophobic stretch, may be
cytoplasmic (these latter are found in leukocytes and fibroblasts, but not
in heart and skeletal muscle). A central hydrophilic domain may serve as
an exposed loop that interacts with other proteins.
 
Defects in taz are the cause of Barth syndrome, a severe inherited disorder,
often fatal in childhood [1]. The disease is characterised by cardiac and
skeletal myopathy, short stature and neutropenia [1].
 
TAFAZZIN is a 6-element fingerprint that provides a signature for
tafazzins. The fingerprint was derived from an intitial alignment of 3
sequences: the motifs were drawn from short conserved regions spanning
the central portion of the alignment - motif 4 lies in the hydrophilic
domain. A single iteration on OWL30.2 was required to reach convergence,
no further sequences being identified beyond the starting set.
 
An update on SPTR37_9f identified a true set of 3 sequences.
Summary Information
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
6333333
5000000
4000000
3000000
2000000
123456
True Positives
Q06510        Q23598        TFZ_HUMAN     
Sequence Titles
Q06510      CHROMOSOME XVI COSMID 9659 - SACCHAROMYCES CEREVISIAE (BAKER'S YEAST). 
Q23598 ZK809.2 PROTEIN - CAENORHABDITIS ELEGANS.
TFZ_HUMAN TAFAZZIN - HOMO SAPIENS (HUMAN).
Scan History
OWL30_2    1  50   NSINGLE    
SPTR37_9f 2 4 NSINGLE
Initial Motifs
Motif 1  width=20
Element Seqn Id St Int Rpt
LITVSNHQSCMDDPHLWGIL TFZ_HUMAN 63 63 -
LITVSNHRSNIDDPLMWCIL CEZK8093 38 38 -
LMTVMNHMSMVDDPLVWATL S69029 71 71 -

Motif 2 width=12
Element Seqn Id St Int Rpt
RWSLGAHNICFQ S69029 102 11 -
RWTPAAADICFT TFZ_HUMAN 94 11 -
RYTLAAHNICFT CEZK8093 70 12 -

Motif 3 width=16
Element Seqn Id St Int Rpt
LHSHFFSLGKCVPVCR TFZ_HUMAN 108 2 -
FHTTMFSLGRCVPCVR CEZK8093 84 2 -
FLANFFSLGQVLSTER S69029 116 2 -

Motif 4 width=15
Element Seqn Id St Int Rpt
SKPSWVHVYPEGFVL S69029 179 47 -
NHGDWVHIFPEGKVN TFZ_HUMAN 170 46 -
NDNKWVHIFPEGKVC CEZK8093 116 16 -

Motif 5 width=22
Element Seqn Id St Int Rpt
FKWGITRMILEATKPPIVVPIF S69029 206 12 -
FKWGIGRLVMDAKTDPVILPVW CEZK8093 139 8 -
FKWGIGRLIAECHLNPIILPLW TFZ_HUMAN 192 7 -

Motif 6 width=14
Element Seqn Id St Int Rpt
KFGNTVTVHIGEPF CEZK8093 177 16 -
RFGQKITVLIGKPF TFZ_HUMAN 230 16 -
NFGSEINVTIGDPL S69029 251 23 -
Final Motifs
Motif 1  width=20
Element Seqn Id St Int Rpt
LITVSNHRSNIDDPLMWCIL Q23598 38 38 -
LITVSNHQSCMDDPHLWGIL TFZ_HUMAN 63 63 -
LMTVMNHMSMVDDPLVWATL Q06510 71 71 -

Motif 2 width=12
Element Seqn Id St Int Rpt
RYTLAAHNICFT Q23598 70 12 -
RWTPAAADICFT TFZ_HUMAN 94 11 -
RWSLGAHNICFQ Q06510 102 11 -

Motif 3 width=16
Element Seqn Id St Int Rpt
FHTTMFSLGRCVPCVR Q23598 84 2 -
LHSHFFSLGKCVPVCR TFZ_HUMAN 108 2 -
FLANFFSLGQVLSTER Q06510 116 2 -

Motif 4 width=15
Element Seqn Id St Int Rpt
NDNKWVHIFPEGKVC Q23598 116 16 -
NHGDWVHIFPEGKVN TFZ_HUMAN 170 46 -
SKPSWVHVYPEGFVL Q06510 179 47 -

Motif 5 width=22
Element Seqn Id St Int Rpt
FKWGIGRLVMDAKTDPVILPVW Q23598 139 8 -
FKWGIGRLIAECHLNPIILPLW TFZ_HUMAN 192 7 -
FKWGITRMILEATKPPIVVPIF Q06510 206 12 -

Motif 6 width=14
Element Seqn Id St Int Rpt
KFGNTVTVHIGEPF Q23598 177 16 -
RFGQKITVLIGKPF TFZ_HUMAN 230 16 -
NFGSEINVTIGDPL Q06510 251 23 -