Rom1 rod outer segment membrane protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rom1provided by MGI
Official Full Name: rod outer segment membrane protein 1provided by MGI
Primary source: MGI:MGI:97998
See related: Ensembl:ENSMUSG00000071648 AllianceGenome:MGI:97998
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rom-1; Rosp1; M101156; Tspan23; Rgsc1156
Summary: Enables protein homodimerization activity. Acts upstream of or within several processes, including detection of light stimulus involved in visual perception; protein complex oligomerization; and retina development in camera-type eye. Located in photoreceptor outer segment membrane. Is expressed in photoreceptor layer; photoreceptor layer outer segment; and retina. Human ortholog(s) of this gene implicated in retinitis pigmentosa 7. Orthologous to human ROM1 (retinal outer segment membrane protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in adrenal adult (RPKM 48.4), ovary adult (RPKM 10.3) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 A; 19 6.03 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (8904746..8906720, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (8927382..8929356, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims.
Title: ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims.
ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.
Title: ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.
Experiments evaluating Prph2 trafficking show that Rom1 is a key determinant of whether Prph2 complexes utilize conventional versus unconventional (Golgi bypass) secretory pathways to reach the OS.
Title: Prph2 initiates outer segment morphogenesis but maturation requires Prph2/Rom1 oligomerization.
ablation of Rom1 results in the conversion of an MD/PD phenotype characterized by cone functional defects and the formation of abnormal Prph2/Rom1 complexes to an RP phenotype characterized by rod-dominant functional defects and reductions in total Prph2 protein. Thus one method by which ROM1 may act as a disease modifier is by contributing to the large variability in PRPH2-associated disease phenotype
Title: Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.
ROM1 overexpression leads to negative effects on cone outer segments ultrastructure and function.
Title: Overexpression of ROM-1 in the cone-dominant retina.
The results suggested that Trp182Arg mutant Rom1 causes a decrease in the levels of wild-type Prph2 and Rom1.
Title: A monogenic dominant mutation in Rom1 generated by N-ethyl-N-nitrosourea mutagenesis causes retinal degeneration in mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation
Chemically induced (ENU) (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within camera-type eye photoreceptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell adhesion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within detection of light stimulus involved in visual perception	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within photoreceptor cell outer segment organization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within photoreceptor cell outer segment organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein heterooligomerization	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of_or_within protein homooligomerization	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of_or_within protein localization to photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein localization to photoreceptor outer segment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retina development in camera-type eye	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina vasculature development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual perception	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: rod outer segment membrane protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_009073.4 → NP_033099.3 rod outer segment membrane protein 1

See identical proteins and their annotated locations for NP_033099.3

Status: VALIDATED

Source sequence(s)

AC129217, AK133529, BC014827

Consensus CDS

CCDS29559.1

UniProtKB/Swiss-Prot

P32958

UniProtKB/TrEMBL

Q3UZZ7

Related

ENSMUSP00000093961.4, ENSMUST00000096242.5

Conserved Domains (1) summary

cd03162
Location:128 → 264

peripherin_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), peripherin_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...