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PR01458

Identifier
PMYELIN22  [View Relations]  [View Alignment]  
Accession
PR01458
No. of Motifs
4
Creation Date
17-NOV-2000
Title
Peripheral myelin protein PMP22 signature
Database References
PRINTS; PR01453 EPMEMFAMILY
MIM; 601097; 118220; 118300; 145900; 162500
Literature References
1. TAYLOR, V., WELCHER, A.A., PROGRAM, A.E. AND SUTER, U.
Epithelial membrane protein-1, peripheral myelin protein 22, and lens 
membrane protein 20 define a novel gene family.
J.BIOL.CHEM. 270 28824-28833 (1995).
 
2. LOBSIGER, C., MAGYAR, J., TAYLOR, V., WULF, P., WELCHER, A., PROGRAM A.E.
AND SUTER, U.
Identification and characterization of a cDNA and the structural gene 
encoding the mouse epithelial membrane protein-1.
GENOMICS 36 379-387 (1996).
 
3. SUTER, U., WELCHER, A. AND SNIPES, G.
Progress in the molecular understanding of hereditary peripheral 
neuropathies reveals new insights into the biology of the peripheral
nervous system.
TRENDS NEUROSCIENCE 16 50-56 (1993).
 
4. SUTER, U. AND SNIPES, G.
Biology and genetics of hereditary motor and sensory neuropathies.
ANNU.REV.NEUROSCIENCE 18 45-75 (1995).
 
5. ROA, B., DYCK, P., MARKS, H., CHANCE, P. AND LUPSKI, J.
Dejerine-Sottas syndrome associated with point mutation in the peripheral
myelin protein 22 (PMP22) gene.
NAT.GENET. 5 269-273 (1993).
 
6. ZOIDL, G., BLASS-KAMPMANN, S., D'URSO, D., SCHMALENBACH, C. AND MULLER, H.
Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in
Schwann cells: modulation of cell growth.
EMBO J. 14 1122-1128 (1995).
 
7. FABBRETTI, E., EDOMI, P., BRANCOLINI, C. AND SCHNEIDER, C.
Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its
relation to the demyelinating peripheral neuropathy CMT1A.
GENES DEV. 9 1846-1856 (1995).

Documentation
The epithelial membrane proteins (EMP-1, -2 and -3), peripheral myelin 
protein 22 (PMP22), and lens fiber membrane intrinsic protein (LMIP)
comprise a protein family on the basis of sequence and structural 
similarities [1]. Each family member is a small hydrophobic membrane
glycoprotein, ~160-170 amino acids in length, and shares a common predicted
transmembrane (TM) topology of 4 TM domains, with intracellular N- and 
C-termini [2]. 
 
PMP22, also termed growth-arrest specific protein (GAS3), is a structural
component of compact myelin in the peripheral nervous system. Aberrant
expression of the PMP22 gene, and mutations in the protein, are associated 
with a variety of hereditary peripheral motor and sensory neuropathies [3].
An intra-chromosomal duplication containing the PMP22 gene is found in the
majority of patients suffering from the autosomal dominant demyelinating
neuropathy Charcot-Marie-Tooth disease 1A (CMT1A) [4]. In addition, rare 
point mutations in PMP22 have been found in non-duplication CMT1A patients
and in the severe congenital peripheral neuropathy Dejerine-Sottas
syndrome [5].
 
PMP22 is also implicated in the control of cell proliferation. Its
expression levels are up-regulated in cells undergoing growth arrest [1],
and it has been shown that modulating PMP22 levels in cultured Schwann
cells exerts a profound effect on the length of the G1 phase of the cell
cycle [6]. It has also been demonstrated that over-expression of PMP22 in
NIH 3T3 fibroblast cells induces apoptosis [7].
 
PMYELIN22 is a 4-element fingerprint that provides a signature for
peripheral myelin protein PMP22. The fingerprint was derived from an initial 
alignment of 3 sequences: the motifs were drawn from conserved TM and loop
regions, focusing on those sections that characterise peripheral myelin 
protein PMP22 and distinguish it from other family members - motif 1 lies in
the first extracellular loop; motif 2 resides within TM domain 2; motif 3
lies in TM domain 3; and motif 4 resides in the second extracellular loop.
A single iteration on SPTR39_14f was required to reach convergence, no
further sequences being identified beyond the starting set.
Summary Information
3 codes involving  4 elements
0 codes involving 3 elements
0 codes involving 2 elements
Composite Feature Index
43333
30000
20000
1234
True Positives
PM22_HUMAN    PM22_MOUSE    PM22_RAT      
Sequence Titles
PM22_HUMAN  PERIPHERAL MYELIN PROTEIN 22 (PMP-22) - Homo sapiens (Human). 
PM22_MOUSE PERIPHERAL MYELIN PROTEIN 22 (PMP-22) (GROWTH-ARREST-SPECIFIC PROTEIN 3) (GAS3) - Mus musculus (Mouse).
PM22_RAT PERIPHERAL MYELIN PROTEIN 22 (PMP-22) (CD25 PROTEIN) (SR13 MYELIN PROTEIN) - Rattus norvegicus (Rat).
Scan History
SPTR39_14f 1  150  NSINGLE    
Initial Motifs
Motif 1  width=13
Element Seqn Id St Int Rpt
TSALGAVQHCYSS PM22_MOUSE 44 44 -
TSALGAVQHCYSS PM22_RAT 44 44 -
TSSSGNVHHCFSS PM22_HUMAN 44 44 -

Motif 2 width=8
Element Seqn Id St Int Rpt
LFLFFCQL PM22_MOUSE 80 23 -
LFLFFCQL PM22_RAT 80 23 -
LFLFFCQL PM22_HUMAN 80 23 -

Motif 3 width=11
Element Seqn Id St Int Rpt
FQILAGLCVMS PM22_MOUSE 102 14 -
FQILAGLCVMS PM22_RAT 102 14 -
FQILAGLCVMS PM22_HUMAN 102 14 -

Motif 4 width=10
Element Seqn Id St Int Rpt
HSEWHVNTDY PM22_MOUSE 121 8 -
HSEWHVNNDY PM22_RAT 121 8 -
HPEWHLNSDY PM22_HUMAN 121 8 -
Final Motifs
Motif 1  width=13
Element Seqn Id St Int Rpt
TSALGAVQHCYSS PM22_MOUSE 44 44 -
TSALGAVQHCYSS PM22_RAT 44 44 -
TSSSGNVHHCFSS PM22_HUMAN 44 44 -

Motif 2 width=8
Element Seqn Id St Int Rpt
LFLFFCQL PM22_MOUSE 80 23 -
LFLFFCQL PM22_RAT 80 23 -
LFLFFCQL PM22_HUMAN 80 23 -

Motif 3 width=11
Element Seqn Id St Int Rpt
FQILAGLCVMS PM22_MOUSE 102 14 -
FQILAGLCVMS PM22_RAT 102 14 -
FQILAGLCVMS PM22_HUMAN 102 14 -

Motif 4 width=10
Element Seqn Id St Int Rpt
HSEWHVNTDY PM22_MOUSE 121 8 -
HSEWHVNNDY PM22_RAT 121 8 -
HPEWHLNSDY PM22_HUMAN 121 8 -