{PDOC00719}
{PS00930; RDS_ROM1}
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********************************
* Peripherin / rom-1 signature *
********************************

Peripherin (or  RDS)  and rom-1 are related retinal-specific integral membrane
proteins which  are located at the rims of the photoreceptor disks, where they
may act  jointly  in  disk  morphogenesis  [1]. Both peripherin and rom-1 form
disulfide-linked homodimers.

Defects in  the  peripherin  gene  (RDS)  cause various Human diseases such as
autosomal dominant retinitis pigmentosa, autosomal dominant punctata albescens
and butterfly-shaped pigment dystrophy. In mice it causes retinopathy known as
'retinal degeneration slow' (rds).

These proteins  contain  about  350  amino  acid  residues.  Structurally they
consist of   a   short   cytoplasmic   N-terminal  domain,  followed  by  four
transmembrane segments that delimit two lumenal and one cytoplasmic loops; the
C-terminal domain is cytoplasmic. The second lumenal loop is very large (about
140 amino acid residues) and contains seven conserved cysteines. The schematic
representation of this structure is shown below.

       NH2-***                   ************-COOH
             *      * * *        *
             *     *     *       *   Cytoplasmic
          ---* ----* ----*-------*----------------
             *     *     *       *   Membrane
             *     *     *       *
          ---* ----* ----*-------*----------------
             *     *     *       *   Lumenal
              * * *      *       *
                         *       *
                          *     *
                            * *
                             *

As a signature pattern  we selected a region  of 16  residues  which is almost
perfectly conserved.  This region is located in the large lumenal  loop and it
contains three of the seven conserved cysteines.

-Consensus pattern: D-[GS]-V-P-F-[ST]-C-C-N-P-x-S-P-R-P-C
-Sequences known to belong to this class detected by the pattern: ALL.
-Other sequence(s) detected in Swiss-Prot: NONE.
-Last update: July 1998 / Pattern and text revised.

[ 1] Bascom R.A., Manara S., Collins L., Molday R.S., Kalnins V.I.,
     McInnes R.R.
     "Cloning of the cDNA for a novel photoreceptor membrane protein
     (rom-1) identifies a disk rim protein family implicated in human
     retinopathies."
     Neuron 8:1171-1184(1992).
     PubMed=1610568

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