ROM1 retinal outer segment membrane protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ROM1provided by HGNC
Official Full Name: retinal outer segment membrane protein 1provided by HGNC
Primary source: HGNC:HGNC:10254
See related: Ensembl:ENSG00000149489 MIM:180721; AllianceGenome:HGNC:10254
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ROM; RP7; ROSP1; TSPAN23
Summary: 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]
Expression: Ubiquitous expression in brain (RPKM 5.2), ovary (RPKM 2.2) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (62613257..62615116)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (62602705..62604564)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (62380729..62382588)

Chromosome 11 - NC_000011.10 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
Title: Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
The Outer Retinal Membrane Protein 1 Could Inhibit Lung Cancer Progression as a Tumor Suppressor.
Title: The Outer Retinal Membrane Protein 1 Could Inhibit Lung Cancer Progression as a Tumor Suppressor.
our study unravels unexpected opposing roles of per(WT) and Rom-1 in rod outer segment (OS)targeting of adRP-linked peripherin-2 mutants and suggests a new treatment strategy for the affected individuals.
Title: Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants.
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.
Observational study of genetic testing. (HuGE Navigator)
Title: Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 should be tested for additional mutations in ABCA4 and ROM1, as they may alter the progression of the PRPH2 phenotype.
Title: ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Retinitis pigmentosa MedGen: C0035334 OMIM: 268000 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	Compare labs
Retinitis pigmentosa 7 MedGen: C1842475 OMIM: 608133 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-9219 (e-PCR)
- UniSTS:52047

ROM1_8597 (e-PCR)
- UniSTS:468654

STS-L07894 (e-PCR)
- UniSTS:11757

ROM1 (e-PCR)
- UniSTS:32750

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in camera-type eye photoreceptor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in detection of light stimulus involved in visual perception	IEA Inferred from Electronic Annotation more info
involved_in photoreceptor cell outer segment organization	IEA Inferred from Electronic Annotation more info
involved_in protein heterooligomerization	IEA Inferred from Electronic Annotation more info
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info
involved_in protein localization to photoreceptor outer segment	IEA Inferred from Electronic Annotation more info
involved_in regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in retina vasculature development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in photoreceptor outer segment membrane	IEA Inferred from Electronic Annotation more info
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

Names: tetraspanin-23

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.

Genomic

NG_009845.2 RefSeqGene

Range

5002..6861

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000327.4 → NP_000318.2 rod outer segment membrane protein 1

Status: REVIEWED

Source sequence(s)

AP001458

Consensus CDS

CCDS8024.1

UniProtKB/Swiss-Prot

B2R978, Q03395

Related

ENSP00000278833.3, ENST00000278833.4

Conserved Domains (1) summary

cd03162
Location:126 → 265

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 ...