InterPro : IPR000830

Name  Peripherin/rom-1 Short Name  Peripherin/rom-1
Type  Family Description  The outer segments of vertebrate rod photoreceptor cells are specialised organelles that function in the transduction of light into electrical signals as part of the visual excitation process. These organelles contain thousands of closely-stacked disk membranes, which have distinctly different protein compositions in their lamellar and rim regions []. Peripherin (or RDS) and rom-1 are related retinal-specific memebers of the tetraspanin family which are located at the rims of the photoreceptor disks, where they may act jointly in disk morphogenesis []. Both peripherin and rom-1 formdisulphide-linked homodimers. Defects in the peripherin gene (RDS) cause various human diseases such asautosomal 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.
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Sequence Features

GO Displayer

Proteins

InterPro protein domain ID --> Contigs

 

Other

0 Child Features

2 Contains

Id Name Short Name Type
IPR008952 Tetraspanin, EC2 domain Tetraspanin_EC2 Domain
IPR018498 Peripherin/rom-1, conserved site Peripherin/rom-1_CS Conserved_site

0 Found In

1 Parent Features

Id Name Short Name Type
IPR018499 Tetraspanin/Peripherin Tetraspanin/Peripherin Family

2 Publications

First Author Title Year Journal Volume Pages
Connell GJ Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane. 1990 Biochemistry 29 4691-8
Bascom RA Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. 1992 Neuron 8 1171-84



To cite PlanMine, please refer to the following publication:

Rozanski, A., Moon, H., Brandl, H., Martín-Durán, J. M., Grohme, M., Hüttner, K., Bartscherer, K., Henry, I., & Rink, J. C.
PlanMine 3.0—improvements to a mineable resource of flatworm biology and biodiversity
Nucleic Acids Research, gky1070. doi:10.1093/nar/gky1070 (2018)