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The Protein Pages

RDS/Peripherin and
Rod Outer Membrane Protein 1 (ROM1)

To see compiled data on further species click on the topics.
To see the reference for the human data click on the data

Editor's Notes from the Literature

Recent update from: 08.07.00

Description

RDS/Peripherin and ROM-1 are two transmembrane proteins present in photoreceptor outer segment disc membranes. While RDS/Peripherin is present in rods and cones, ROM1 is restricted to rods only (1). The proteins form heterodimers in rods as well as homodimers in cones. 4 dimers may form octamers (8). The dimers are located at the disc rim and may play a role in anchoring the disc to the cytoskeletal system of the outer segment (4).

GENE DATA

Exons:

RDS/Peripherin 3
ROM1 3

Markers / RFLPs:

RDS/Peripherin Flanking markers: D6S1582 and D6S271 (1.2 cM)
ROM1 Probe pHRDS8 - Apa I, Dra I, Bgl II

Transcripts:

RDS/Peripherin 3.0 kb, 5,5 kb
ROM1

Regulatory Elements:

RDS/Peripherin
ROM1 no TATAA box, no CCAAT box, maybe CpG-island promoter

Primers:

RDS/Peripherin complete
ROM1
Chromosomes with RDS/Peripherin und ROM1 loci

Assignment:

RDS/Peripherin 6p12
ROM1 11q13

Involvement in Retinal Degenerations:


click here to see a compilation of

CLICK

several Mutations found to underlie

Retinal pattern dystrophy
Retinitis punctata albescens
ADRP
digenic RP

PROTEIN DATA

Subunits:
RDS/Peripherin 1
ROM1 1

Amino acids:

RDS/Peripherin 346
ROM1 351

Modifications:

RDS/Peripherin N-glycosylation at N-230, 263, 53
ROM1 nonglycosylated

Mr/ Weight:

RDS/Peripherin 39 kDa
ROM1 37 kDa

Cofactors:

RDS/Peripherin
ROM1

Motifs:

RDS/Peripherin
ROM1
PROTEIN DATA

Click on entry to see database record online
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Protein Subtype Locus Species EC-No. Swissprot PIR Prosite
Peripherin/RDS
RDS Bos taurus EC- P17810 A34608 B34608 PS00930
Peripherin/RDS
RDS Canis familiaris EC- P52204
PS00930
Peripherin/RDS
RDS Felis catus EC- P35906
PS00930
Peripherin/RDS
RDS Homo sapiens EC- P23942 A40308 PS00930
Peripherin/RDS
RDS Rattus norvegicus EC- P17438

Peripherin/RDS
RDS Xenopus laevis EC-
A60090 S24581 B60094

GENE DATA

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Gene Subtype Locus Species Genbank Unigene Medline
Peripherin/RDS
RDS Bos taurus J02884
90214527
Peripherin/RDS
RDS Canis familiaris U36577
96262792
Peripherin/RDS
RDS Felis catus M94047
94162777
Peripherin/RDS
RDS Gallus gallus AF031238 AF031239
98138492
Peripherin/RDS
RDS Homo sapiens S73627 U07147 U07148 U07149 M73531 M62958
94162777 94290510 89143767 91365382 92086047
Peripherin/RDS
RDS Rattus norvegicus X52376 NM_013021
90272424
Peripherin/RDS
RDS Xenopus laevis L79913 L79914 L79915
97081973
Rod Outer Segment Membrane Protein1
ROM1 Bos taurus U72027 U72028 D83385
96190383
Rod Outer Segment Membrane Protein1
ROM1 Canis familiaris X96587 L77426 L77427
98251486
Rod Outer Segment Membrane Protein1
ROM1 Homo sapiens M96759 L07894 NM_000327 Hs.1943 93278286 92304584
Rod Outer Segment Membrane Protein1
ROM1 Mus musculus M96760 M96759 NM_009073 Mm.679 93278386

GENE LOCUS DATA

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Gene Subtype Locus Species Genome Database Mouse Genome Database OMIM Locus Link
Peripherin/RDS
RDS Homo sapiens 118863
179605 153700 153800 169150 180100 180103 248200 268000 300029 600132 602093
Peripherin/RDS
RDS Mus musculus
Prph2

Peripherin/RDS
RDS Rattus norvegicus


25534

References:
1. Arikawa,K., Molday,L.L., Molday,R.S., and Williams,D.S. Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration. 1992; J.Cell Biol. 116: 659-667.
Goto Top Link to PudMed
2. Bascom,R.A., Liu,L., Humphries,P., Fishman,G.A., Murray,J.C., and McInnes,R.R. Polymorphisms and rare sequence variants at the ROM1 locus. 1993; Hum.Mol.Genet. 2: 1975-1977.
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3. Bascom,R.A., Schappert,K., and McInnes,R.R. Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation. 1993; Hum.Mol.Genet. 2: 385-391.
Goto Top Link to PudMed
4. Connell,G.J. and Molday,R.S. Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane. 1990; Biochemistry. 29: 4691-4698.
Goto Top Link to PudMed
5. Dryja,T.P., Hahn,L.B., Kajiwara,K., and Berson,E.L. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. 1997; Invest.Ophthalmol.Vis.Sci. 38: 1972-1982.
Goto Top Link to PudMed
6. Goldberg,A.F., Moritz,O.L., and Molday,R.S. Heterologous expression of photoreceptor peripherin/rds and Rom- 1 in COS-1 cells: assembly, interactions, and localization of multisubunit complexes. 1995; Biochemistry. 34: 14213-14219.
Goto Top Link to PudMed
7. Molday,L.L. and Molday,R.S. Structural And Enzymatic Properties Of The ABCR Protein Of Rod Photoreceptors. 1998; Invest.Ophthalmol.Vis.Sci. 39: S963
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8. Molday,R.S., Loewen,C.J., and Molday,L.L. Structural Properties Of The Peripherin/RDS-ROM1 Complex Of Disk Membranes. 1998; Invest.Ophthalmol.Vis.Sci. 39: S11
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9. Payne,A.M., Downes,S.M., Bessant,D.A., Bird,A.C., and Bhattacharya,S.S. Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene. 1998; Am.J.Hum.Genet. 62: 192-195.
Goto Top Link to PudMed
10. Travis,G.H., Christerson,L., Danielson,P.E., Klisak,I., Sparkes,R.S., Hahn,L.B., Dryja,T.P., and Sutcliffe,J.G. The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. 1991; Genomics. 10: 733-739.
Goto Top Link to PudMed
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Contact the editor: irpamp@irpa.org 		This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz