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PR00965

Identifier
OCULARALBNSM  [View Relations]  [View Alignment]  
Accession
PR00965
No. of Motifs
9
Creation Date
14-AUG-1998  (UPDATE 07-JUN-1999)
Title
Ocular albinism type 1 protein signature
Database References

INTERPRO; IPR001414
Literature References
1. BASSI, M.T., SCHIAFFINO, M.V., RENIERI, A., DE NIGRIS, F., GALLI, L.,
BRUTTINI, M., GEBBIA, M., BERGEN, A.A., LEWIS, R.A. AND BALLABIO, A.
Cloning of the gene for ocular albinism type 1 from the distal short arm
of the X chromosome. 
NAT.GENET. 10 13-19 (1995). 

Documentation
Ocular albinism type 1 (OA1) is an X-linked disorder characterised by severe
impairment of visual acuity, retinal hypopigmentation and the presence of
macromelanosomes [1]. A novel transcript has been isolated from the OA1
critical region, which is expressed in high levels in RNA samples from
retina and from melanoma [1]. The gene encodes a potential integral membrane
protein of 424 residues that contains several putative transmembrane (TM)
domains, but shows no similarities to other known sequences. 
 
OCULARALBNSM is a 9-element fingerprint that provides a signature for ocular
albinism type 1 proteins. The fingerprint was derived from an initial 
alignment of 3 sequences: the motifs were drawn from short conserved regions 
spanning the full alignment length - motifs 1-3 include the N-terminal 
residues of the first, second and third putative TM domains; motifs 5 and 6
span the fourth and fifth TM domains; motif 7 includes the N-terminal 
residues of TM domain 6; motif 8 spans TM domain 7; and motif 9 lies at the
C-terminus. A single iteration on OWL30.2 was requried 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  9 elements
0 codes involving 8 elements
0 codes involving 7 elements
0 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
9333333333
8000000000
7000000000
6000000000
5000000000
4000000000
3000000000
2000000000
123456789
True Positives
O89031        OA1_HUMAN     OA1_MOUSE     
Sequence Titles
O89031      OCULAR ALBINISM TYPE 1 PROTEIN HOMOLOG (MOA1) - MUS MUSCULUS (MOUSE). 
OA1_HUMAN OCULAR ALBINISM TYPE 1 PROTEIN - HOMO SAPIENS (HUMAN).
OA1_MOUSE OCULAR ALBINISM TYPE 1 PROTEIN HOMOLOG (MOA1) - MUS MUSCULUS (MOUSE).
Scan History
OWL30_2    1  100  NSINGLE    
SPTR37_9f 2 4 NSINGLE
Initial Motifs
Motif 1  width=20
Element Seqn Id St Int Rpt
DAATQLVLSFQPRAFHALCL OA1_HUMAN 35 35 -
DAATQLVLSFQPRVFHALCL MMOA1 15 15 -
DAATQLVLSFQPRVFHALCL MMU63918 15 15 -

Motif 2 width=21
Element Seqn Id St Int Rpt
VHILRAATACDLLGCLGIVIR MMU63918 68 33 -
VRILRAAAACDLLGCLGMVIR OA1_HUMAN 88 33 -
VHILRAATACDLLGCLGIVIR MMOA1 68 33 -

Motif 3 width=20
Element Seqn Id St Int Rpt
WPAAFCVGSAMWIQLLYSAC OA1_HUMAN 131 22 -
WPATFCVGSAMWIQLLYSAC MMOA1 111 22 -
WPATFCVGSAMWIQLLYSAC MMU63918 111 22 -

Motif 4 width=20
Element Seqn Id St Int Rpt
CFWWLFCYAVDVYLVIRRSA MMOA1 130 -1 -
CFWWLFCYAVDVYLVIRRSA MMU63918 130 -1 -
CFWWLFCYAVDAYLVIRRSA OA1_HUMAN 150 -1 -

Motif 5 width=23
Element Seqn Id St Int Rpt
STILLYHIMAWGLAVLLCVEGAV MMOA1 152 2 -
STILLYHIMAWGLAVLLCVEGAV MMU63918 152 2 -
STILLYHIMAWGLATLLCVEGAA OA1_HUMAN 172 2 -

Motif 6 width=22
Element Seqn Id St Int Rpt
DHAIPHYVTMYLPLLLVLVANP OA1_HUMAN 209 14 -
DHAIPHYVTTYLPLLLVLVANP MMOA1 189 14 -
DHAIPHYVTTYLPLLLVLVANP MMU63918 189 14 -

Motif 7 width=21
Element Seqn Id St Int Rpt
MGAVIKTRFFKIMLVLIACWL MMU63918 238 27 -
MGAVIKTRFFKIMLVLIACWL MMOA1 238 27 -
MGAVIKIRFFKIMLVLIICWL OA1_HUMAN 258 27 -

Motif 8 width=22
Element Seqn Id St Int Rpt
WFIMGILNPAQGLLLSLAFYGW MMU63918 292 33 -
WFIMGILNPAQGLLLSLAFYGW MMOA1 292 33 -
WFIMGILNPAQGFLLSLAFYGW OA1_HUMAN 312 33 -

Motif 9 width=21
Element Seqn Id St Int Rpt
DEVLSILSEDSDASTVEIHTA MMOA1 366 52 -
DEALSMLSEGSDASTIEIHTA OA1_HUMAN 385 51 -
DEVLSILSEDSDASTVEIHTA MMU63918 366 52 -
Final Motifs
Motif 1  width=20
Element Seqn Id St Int Rpt
DAATQLVLSFQPRVFHALCL O89031 15 15 -
DAATQLVLSFQPRVFHALCL OA1_MOUSE 15 15 -
DAATQLVLSFQPRAFHALCL OA1_HUMAN 35 35 -

Motif 2 width=21
Element Seqn Id St Int Rpt
VHILRAATACDLLGCLGIVIR O89031 68 33 -
VHILRAATACDLLGCLGIVIR OA1_MOUSE 68 33 -
VRILRAAAACDLLGCLGMVIR OA1_HUMAN 88 33 -

Motif 3 width=20
Element Seqn Id St Int Rpt
WPATFCVGSAMWIQLLYSAC O89031 111 22 -
WPATFCVGSAMWIQLLYSAC OA1_MOUSE 111 22 -
WPAAFCVGSAMWIQLLYSAC OA1_HUMAN 131 22 -

Motif 4 width=20
Element Seqn Id St Int Rpt
CFWWLFCYAVDVYLVIRRSA O89031 130 -1 -
CFWWLFCYAVDVYLVIRRSA OA1_MOUSE 130 -1 -
CFWWLFCYAVDAYLVIRRSA OA1_HUMAN 150 -1 -

Motif 5 width=23
Element Seqn Id St Int Rpt
STILLYHIMAWGLAVLLCVEGAV O89031 152 2 -
STILLYHIMAWGLAVLLCVEGAV OA1_MOUSE 152 2 -
STILLYHIMAWGLATLLCVEGAA OA1_HUMAN 172 2 -

Motif 6 width=22
Element Seqn Id St Int Rpt
DHAIPHYVTTYLPLLLVLVANP O89031 189 14 -
DHAIPHYVTTYLPLLLVLVANP OA1_MOUSE 189 14 -
DHAIPHYVTMYLPLLLVLVANP OA1_HUMAN 209 14 -

Motif 7 width=21
Element Seqn Id St Int Rpt
MGAVIKTRFFKIMLVLIACWL O89031 238 27 -
MGAVIKTRFFKIMLVLIACWL OA1_MOUSE 238 27 -
MGAVIKIRFFKIMLVLIICWL OA1_HUMAN 258 27 -

Motif 8 width=22
Element Seqn Id St Int Rpt
WFIMGILNPAQGLLLSLAFYGW O89031 292 33 -
WFIMGILNPAQGLLLSLAFYGW OA1_MOUSE 292 33 -
WFIMGILNPAQGFLLSLAFYGW OA1_HUMAN 312 33 -

Motif 9 width=21
Element Seqn Id St Int Rpt
DEVLSILSEDSDASTVEIHTA O89031 366 52 -
DEVLSILSEDSDASTVEIHTA OA1_MOUSE 366 52 -
DEALSMLSEGSDASTIEIHTA OA1_HUMAN 385 51 -