Human Gene ROM1 (uc001ntv.3) Description and Page Index
Description: Homo sapiens retinal outer segment membrane protein 1 (ROM1), mRNA. RefSeq Summary (NM_000327): This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK313674.1, BC008100.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr11:62,380,213-62,382,592 Size: 2,380 Total Exon Count: 3 Strand: + Coding Region Position: hg19 chr11:62,380,754-62,382,311 Size: 1,558 Coding Exon Count: 3
ID:ROM1_HUMAN DESCRIPTION: RecName: Full=Rod outer segment membrane protein 1; Short=ROSP1; AltName: Full=Tetraspanin-23; Short=Tspan-23; 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. SUBUNIT: Homodimer; disulfide-linked. Probably forms a complex with a PRPH2 homodimer. Other proteins could associate with this complex in rods. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Retina (photoreceptor). In rim region of ROS (rod outer segment) disks. DISEASE: Defects in ROM1 may cause retinitis pigmentosa (RP) [MIM:268000]; when associated with defects in PRPH2. SIMILARITY: Belongs to the PRPH2/ROM1 family. WEB RESOURCE: Name=Mutations of the ROM1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/rommut.htm";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): ROM1 CDC HuGE Published Literature: ROM1 Positive Disease Associations: retinitis pigmentosa. Related Studies:
retinitis pigmentosa. Martinez-Mir A et al. 1997, Putative association of a mutant ROM1 allele with retinitis pigmentosa., Human genetics. 1997 Jun;99(6):827-30.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q03395
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.