InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ROM1

Summary

InnateDB Protein

IDBP-51307.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ROM1

Protein Name

retinal outer segment membrane protein 1

Synonyms

ROM; ROSP1; RP7; TSPAN23;

Species

Homo sapiens

Ensembl Protein

ENSP00000278833

InnateDB Gene

IDBG-51305 (ROM1)

Protein Structure

UniProt Annotation

Function

May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Retinitis pigmentosa 7 (RP7) [MIM:608133]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:8202715, ECO:0000269PubMed:9331261}. Note=The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry. A digenic form of retinitis pigmentosa 7 results from a mutation in the PRPH2 gene and a null mutation of the ROM1 gene has been reported (PubMed:8202715). {ECO:0000269PubMed:8202715}.

Tissue Specificity

Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

GO:0007155	cell adhesion
GO:0007601	visual perception
GO:0010468	regulation of gene expression
GO:0060042	retina morphogenesis in camera-type eye
GO:0060219	camera-type eye photoreceptor cell differentiation
GO:0061298	retina vasculature development in camera-type eye

Cellular Component

GO:0001750	photoreceptor outer segment
GO:0005887	integral component of plasma membrane
GO:0016021	integral component of membrane
GO:0042622	photoreceptor outer segment membrane