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PR00414

Identifier
PPTHIESTRASE  [View Relations]  [View Alignment]  
Accession
PR00414
No. of Motifs
7
Creation Date
11-DEC-1995  (UPDATE 07-JUN-1999)
Title
Palmitoyl protein thioesterase signature
Database References

INTERPRO; IPR002472
Literature References
1. VESA, J., HELLSTEN, E., VERKRUYSE, L.A., CAMP., L.A., RAPOLA, J.,
SANTAVUORI, P., HOFMANN, S.L. AND PELTONEN, L.
Mutations in the palmitoyl protein thioesterase gene causing infantile
neuronal ceroid lipofuscinosis.
NATURE 376 17 584-587 (1995).

Documentation
Neuronal ceroid lipofuscinoses (NCL) represent a group of encephalopathies
that occur in 1 in 12,500 children [1]. The diseases are divided into 3 main
subtypes, of which the infantile type (INCL) is characterised by early
visual loss and rapidly-progressing mental deterioration. Death usually
occurs at 8-11 years, and characteristic storage bodies are found in the
brain and other tissues at autopsy. Although the molecular pathogenesis
underlying the disease is unknown, defects in the palmitoyl-protein
thioesterase (PPT) gene have recently been reported in a group of INCL
patients [1]. The most common mutation results in intracellular
accumulation of the polypeptide and undetectable enzyme activity in
the brain.
 
Direct sequencing of cDNAs derived from brain RNA of INCL patients has
shown a mis-sense transversion of A to T at nucleotide position 364, which
results in substitution of Trp for Arg at position 122 in the protein - 
Arg 122 is immediately adjacent to a lipase consensus sequence that 
contains the putative active site Ser of PPT. The occurrence of this and
2 other independent mutations in the PPT gene strongly suggests that
defects in this gene cause INCL [1]. 
 
PPTHIESTRASE is a 7-element fingerprint that provides a signature for
palmitoyl protein thioesterases. The fingerprint was derived from an
initial alignment of 3 sequences: the motifs were drawn from conserved
regions spanning the full alignment length - motif 3 spans the lipase
consensus sequence, which contains the putative active-site serine, and
includes Arg 122. A single iteration on OWL26.3 was required to reach
convergence, no further sequences being identified beyond the starting set.
 
An update on SPTR37_9f identified a true set of 4 sequences, and 1
partial match.
Summary Information
   4 codes involving  7 elements
0 codes involving 6 elements
0 codes involving 5 elements
0 codes involving 4 elements
1 codes involving 3 elements
0 codes involving 2 elements
Composite Feature Index
74444444
60000000
50000000
40000000
30010110
20000000
1234567
True Positives
O88531        PPT_BOVIN     PPT_HUMAN     PPT_RAT       
True Positive Partials
Codes involving 3 elements
Q20390
Sequence Titles
O88531      PALMITOYL-PROTEIN THIOESTERASE PRECURSOR - MUS MUSCULUS (MOUSE). 
PPT_BOVIN PALMITOYL-PROTEIN THIOESTERASE PRECURSOR (EC 3.1.2.22) (PALMITOYL- PROTEIN HYDROLASE) - BOS TAURUS (BOVINE).
PPT_HUMAN PALMITOYL-PROTEIN THIOESTERASE PRECURSOR (EC 3.1.2.22) (PALMITOYL- PROTEIN HYDROLASE) - HOMO SAPIENS (HUMAN).
PPT_RAT PALMITOYL-PROTEIN THIOESTERASE PRECURSOR (EC 3.1.2.22) (PALMITOYL- PROTEIN HYDROLASE) - RATTUS NORVEGICUS (RAT).

Q20390 SIMILAR TO PALMITOYL-PROTEIN THIOESTERASE PRECURSOR. NCBI GI: 1226321 - CAENORHABDITIS ELEGANS.
Scan History
OWL26_3    1  100  NSINGLE    
SPTR37_9f 2 9 NSINGLE
Initial Motifs
Motif 1  width=23
Element Seqn Id St Int Rpt
HLDPPAPLPLVIWHGMGDSCCNP B54717 26 26 -
HLDPPAPLPLVIWHGMGDSCCNP HUMPPT 26 26 -
HLDPPSPPPLVIWHGMGDSCCNP A54717 26 26 -

Motif 2 width=20
Element Seqn Id St Int Rpt
HVLSLEIGKTLREDVENSFF B54717 66 17 -
YVLSLEIGKTLMEDVENSFF HUMPPT 66 17 -
YVLSLEIGKNMVEDVENSFF A54717 66 17 -

Motif 3 width=17
Element Seqn Id St Int Rpt
QQGYNAMGFSQGGQFLR B54717 106 20 -
QQGYNAMGFSQGGQFLR HUMPPT 106 20 -
QHGYNAIGFSQGGQFLR A54717 106 20 -

Motif 4 width=20
Element Seqn Id St Int Rpt
RCPGESSHICDFIRKTLNAG B54717 151 28 -
RCPGESSHICDFIRKTLNAG HUMPPT 151 28 -
RCPGESSHICDFIRKSLNAG A54717 151 28 -

Motif 5 width=20
Element Seqn Id St Int Rpt
YWHDPIREDIYRNHSIFLAD B54717 185 14 -
YWHDPIKEDVYRNHSIFLAD HUMPPT 185 14 -
YWHDPIKEEVYRNCSIFLAD A54717 185 14 -

Motif 6 width=19
Element Seqn Id St Int Rpt
DPVDSEWFGFYRSGQAKET B54717 237 32 -
DPVDSEWFGFYRSGQAKET HUMPPT 237 32 -
DPVDSEWFGFYRSGQAKET A54717 237 32 -

Motif 7 width=19
Element Seqn Id St Int Rpt
FLALEGDHLQLSEEWFYAH B54717 282 26 -
FLATEGDHLQLSEEWFYAH HUMPPT 282 26 -
FLAKEGDHLQISKEWFTAH A54717 282 26 -
Final Motifs
Motif 1  width=23
Element Seqn Id St Int Rpt
HLDPPAPLPLVIWHGMGDSCCNP PPT_HUMAN 26 26 -
HLDPPSPPPLVIWHGMGDSCCNP O88531 27 27 -
HLDPPSPPPLVIWHGMGDSCCNP PPT_RAT 26 26 -
HLDPPAPLPLVIWHGMGDSCCNP PPT_BOVIN 26 26 -

Motif 2 width=20
Element Seqn Id St Int Rpt
YVLSLEIGKTLMEDVENSFF PPT_HUMAN 66 17 -
YVLSLEIGKNMMEDVENSFF O88531 67 17 -
YVLSLEIGKNMVEDVENSFF PPT_RAT 66 17 -
HVLSLEIGKTLREDVENSFF PPT_BOVIN 66 17 -

Motif 3 width=17
Element Seqn Id St Int Rpt
QQGYNAMGFSQGGQFLR PPT_HUMAN 106 20 -
QQGYNAIGFSQGGQFLR O88531 107 20 -
QHGYNAIGFSQGGQFLR PPT_RAT 106 20 -
QQGYNAMGFSQGGQFLR PPT_BOVIN 106 20 -

Motif 4 width=20
Element Seqn Id St Int Rpt
RCPGESSHICDFIRKTLNAG PPT_HUMAN 151 28 -
RCPGESSHICDFIRKSLNAG O88531 152 28 -
RCPGESSHICDFIRKSLNAG PPT_RAT 151 28 -
RCPGESSHICDFIRKTLNAG PPT_BOVIN 151 28 -

Motif 5 width=20
Element Seqn Id St Int Rpt
YWHDPIKEDVYRNHSIFLAD PPT_HUMAN 185 14 -
YWHDPIKESVYRNYSIFLAD O88531 186 14 -
YWHDPIKEEVYRNCSIFLAD PPT_RAT 185 14 -
YWHDPIREDIYRNHSIFLAD PPT_BOVIN 185 14 -

Motif 6 width=19
Element Seqn Id St Int Rpt
DPVDSEWFGFYRSGQAKET PPT_HUMAN 237 32 -
DPVDSEWFGFYRSGQAKET O88531 238 32 -
DPVDSEWFGFYRSGQAKET PPT_RAT 237 32 -
DPVDSEWFGFYRSGQAKET PPT_BOVIN 237 32 -

Motif 7 width=19
Element Seqn Id St Int Rpt
FLATEGDHLQLSEEWFYAH PPT_HUMAN 282 26 -
FLAKEGDHLQISKEWFTAH O88531 283 26 -
FLAKEGDHLQISKEWFTAH PPT_RAT 282 26 -
FLALEGDHLQLSEEWFYAH PPT_BOVIN 282 26 -