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PR00487

Identifier
FILAGGRIN  [View Relations]  [View Alignment]  
Accession
PR00487
No. of Motifs
9
Creation Date
03-MAR-1996  (UPDATE 03-JUL-1999)
Title
Filaggrin signature
Database References
Literature References
1. MCKINLEY-GRANT, L.J., IDLER, W.W., BERNSTEIN, I.A., PARRY, D.A.,
CANNIZZARO, L., CROCE, C.M., HUEBNER, K., LESSIN, S.R. AND STEINERT, P.M.
Characterisation of a cDNA clone encoding human filaggrin and localization
of the gene to chromosome region 1q21. 
PROC.NATL.ACAD.SCI.U.S.A. 86 4848-4852 (1989).

Documentation
Filaggrins are filament-associated proteins that interact with keratin
intermediate filaments of terminally differentiating mammalian epidermis
via disulphide bond formation [1]. They show wide species variations and
their aberrant expression has been implicated in a number of keratinising
disorders. The proteins are synthesised as large, insoluble, highly-
phosphorylated precursors, containing multiple tandem repeats of 324 amino
acids, which are not separated by a large linker. The precursor is
deposited as keratohyalin granules. During terminal differentiation, it
is dephosphorylated and proteolytically cleaved.
 
FILAGGRIN is a 9-element fingerprint that provides a signature for
filaggrins. The fingerprint was derived from an initial alignment of 17
sequences: the motifs were drawn from conserved regions spanning the first
two-thirds of the alignment. A single iteration on OWL26.3 was required to
reach convergence, at which point a true set comprising 2 sequences was
identified. Numerous partial matches were also found. Most of the database
entries are fragments (including those in the initial alignment), hence the
rather fragmentary nature of the result. Consequently, this is not a
powerful discriminator, but should nevertheless be sufficient to provide
a reasonable diagnostic guide.
 
An update on OWL31_3 identified a true set of 3 sequences, and 10
partial matches.
Summary Information
   3 codes involving  9 elements
0 codes involving 8 elements
3 codes involving 7 elements
2 codes involving 6 elements
2 codes involving 5 elements
1 codes involving 4 elements
1 codes involving 3 elements
1 codes involving 2 elements
Composite Feature Index
9333333333
8000000000
7113333223
6111222111
5111011221
4111000100
3111000000
2001000001
123456789
True Positives
A35938        HUMPROFILA    HUMPROFILX    
True Positive Partials
Codes involving 7 elements
HUMPROFIL2 HUMPROFILC HUMPROFILE
Codes involving 6 elements
A45135 FILA_HUMAN
Codes involving 5 elements
AF043380 HUMPROFILB
Codes involving 4 elements
HUMPROFILD
Codes involving 3 elements
A48118
Codes involving 2 elements
A34615
Sequence Titles
A35938      profilaggrin - human (fragments)              
HUMPROFILA HUMPROFILA NID: g190395 - Human placenta DNA, clone g-lambda-HF5.
HUMPROFILX HUMPROFILX NID: g190405 - Homo sapiens (library: EMBL3, Clonetics)...

HUMPROFIL2 HUMPROFIL2 NID: g190392 - Human placenta DNA, clone g-lambda-HF222.
HUMPROFILC HUMPROFILC NID: g190399 - Human, cDNA to mRNA, clone lambda-HF604.
HUMPROFILE HUMPROFILE NID: g190403 - Human, cDNA to mRNA, clone lambga-HF223.

A45135 profilaggrin - human (fragment)
FILA_HUMAN F FILAGGRIN PRECURSOR (FRAGMENT). - HOMO SAPIENS (HUMAN).

AF043380 AF043380 NID: g3220176 - human.
HUMPROFILB HUMPROFILB NID: g190397 - Human, cDNA to mRNA, clone lambda-HF202.

HUMPROFILD HUMPROFILD NID: g190401 - Human, cDNA to mRNA, clone lambda-HF373.

A48118 major epidermal calcium-binding protein profilaggrin - human (fragment)

A34615 profilaggrin - rat (fragment)
Scan History
OWL26_3    1  100  NSINGLE    
OWL31_3 2 50 NSINGLE
Initial Motifs
Motif 1  width=23
Element Seqn Id St Int Rpt
HIATYYTIQDEAYDTTDSLLEEN HUMPROFILA 10 10 -
HIATYYTIQDEAYDTTDSLLEEN HUMPROFILX 232 232 -

Motif 2 width=23
Element Seqn Id St Int Rpt
KIYERSRSSDGKSSSQVNRSRHE HUMPROFILA 33 0 -
KIYERSRSSDGKSSSQVNRSRHE HUMPROFILX 255 0 -

Motif 3 width=25
Element Seqn Id St Int Rpt
VPLQESRTRKRRGSRVSQDRDSQGH HUMPROFILA 60 4 -
VPLQESRTRKRRGSRVSQDRDSEGH HUMPROFILX 282 4 -

Motif 4 width=22
Element Seqn Id St Int Rpt
SGRSGSFLYQVSTHEQSESAHG HUMPROFILA 564 479 -
SGRSGSFLYQVSTHEQSESAHG HUMPROFILX 786 479 -

Motif 5 width=21
Element Seqn Id St Int Rpt
GHSGSHHSHTTSQGRSDASHG HUMPROFILA 642 56 -
GHSGSHHSHTTSQGRSDASHG HUMPROFILX 864 56 -

Motif 6 width=23
Element Seqn Id St Int Rpt
SRQTRDEEQSGDGTRHSGSHHQE HUMPROFILA 670 7 -
SRQTRDEEQSGDGTRHSGSHHQE HUMPROFILX 892 7 -

Motif 7 width=16
Element Seqn Id St Int Rpt
RRQAASSQEQARSRAG HUMPROFILA 792 99 -
RRQAASSQEQARSRAG HUMPROFILX 1014 99 -

Motif 8 width=18
Element Seqn Id St Int Rpt
AIGRGQASSAVRDRGHRG HUMPROFILA 825 17 -
AIGRGQASSAVRDRGHRG HUMPROFILX 1047 17 -

Motif 9 width=20
Element Seqn Id St Int Rpt
SQASDQEGHSEDSDSQSVSA HUMPROFILA 846 3 -
SQASDQEGHSEDSDSQSVSA HUMPROFILX 1068 3 -
Final Motifs
Motif 1  width=23
Element Seqn Id St Int Rpt
HIATYYTIQDEAYDTTDSLLEEN HUMPROFILA 10 10 -
HIATYYTIQDEAYDTTDSLLEEN HUMPROFILX 232 232 -
HIATYYTIQDEAYDTTDSLLEEN A35938 10 10 -

Motif 2 width=23
Element Seqn Id St Int Rpt
KIYERSRSSDGKSSSQVNRSRHE HUMPROFILA 33 0 -
KIYERSRSSDGKSSSQVNRSRHE HUMPROFILX 255 0 -
KIYERSRSSDGKSSSQVNRSRHE A35938 33 0 -

Motif 3 width=25
Element Seqn Id St Int Rpt
VPLQESRTRKRRGSRVSQDRDSQGH HUMPROFILA 60 4 -
VPLQESRTRKRRGSRVSQDRDSEGH HUMPROFILX 282 4 -
VPLQESRTRKRRGSQVSQDRDSQGH A35938 60 4 -

Motif 4 width=22
Element Seqn Id St Int Rpt
SGRSGSFLYQVSTHEQSESAHG HUMPROFILA 564 479 -
SGRSGSFLYQVSTHEQSESAHG HUMPROFILX 786 479 -
SGRSGSFLYQVSTHEQSESAHG A35938 564 479 -

Motif 5 width=21
Element Seqn Id St Int Rpt
GHSGSHHSHTTSQGRSDASHG HUMPROFILA 642 56 -
GHSGSHHSHTTSQGRSDASHG HUMPROFILX 864 56 -
GHSGSHHSHTTSQGRSDASHG A35938 642 56 -

Motif 6 width=23
Element Seqn Id St Int Rpt
SRQTRDEEQSGDGTRHSGSHHQE HUMPROFILA 670 7 -
SRQTRDEEQSGDGTRHSGSHHQE HUMPROFILX 892 7 -
SRQTRDEEQSGDGTRHSGSHHQE A35938 670 7 -

Motif 7 width=16
Element Seqn Id St Int Rpt
RRQAASSQEQARSRAG HUMPROFILA 792 99 -
RRQAASSQEQARSRAG HUMPROFILX 1014 99 -
RRQAASSQEQARSRAG A35938 792 99 -

Motif 8 width=18
Element Seqn Id St Int Rpt
AIGRGQASSAVRDRGHRG HUMPROFILA 825 17 -
AIGRGQASSAVRDRGHRG HUMPROFILX 1047 17 -
GIGRGQASSAVRDRGHRG A35938 825 17 -

Motif 9 width=20
Element Seqn Id St Int Rpt
SQASDQEGHSEDSDSQSVSA HUMPROFILA 846 3 -
SQASDQEGHSEDSDSQSVSA HUMPROFILX 1068 3 -
SQASDQEGHSEDSDSQSVSA A35938 846 3 -