Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6094
Gene name Gene Name - the full gene name approved by the HGNC.	Retinal outer segment membrane protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ROM1
Synonyms (NCBI Gene) Gene synonyms aliases	ROM, ROSP1, RP7, TSPAN23
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q12.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(7)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022287	hsa-miR-124-3p	Microarray	18668037
MIRT028880	hsa-miR-26b-5p	Microarray	19088304
MIRT1315103	hsa-miR-1236	CLIP-seq
MIRT1315104	hsa-miR-1470	CLIP-seq
MIRT1315105	hsa-miR-4469	CLIP-seq
MIRT1315106	hsa-miR-4667-3p	CLIP-seq
MIRT1315107	hsa-miR-642a	CLIP-seq

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS	1610568
GO:0007155	Process	Cell adhesion	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	1610568
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0035845	Process	Photoreceptor cell outer segment organization	IEA
GO:0042622	Component	Photoreceptor outer segment membrane	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042995	Component	Cell projection	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051291	Process	Protein heterooligomerization	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060042	Process	Retina morphogenesis in camera-type eye	IEA
GO:0060219	Process	Camera-type eye photoreceptor cell differentiation	IEA
GO:0061298	Process	Retina vasculature development in camera-type eye	IEA
GO:1903546	Process	Protein localization to photoreceptor outer segment	IEA

MIM	HGNC	e!Ensembl
180721	10254	ENSG00000149489

Protein

UniProt ID

Q03395

Protein name

Rod outer segment membrane protein 1 (ROSP1) (Tetraspanin-23) (Tspan-23)

Protein function

Plays a role in rod outer segment (ROS) morphogenesis (By similarity). May play a role with PRPH2 in the maintenance of the structure of ROS curved disks (By similarity). Plays a role in the organization of the ROS and maintenance of ROS disk di

PDB

7ZW1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00335	Tetraspanin	17 → 290	Tetraspanin family	Family

Tissue specificity

TISSUE SPECIFICITY: Retina photoreceptors (at protein level) (PubMed:1610568, PubMed:8504299). In rim region of ROS disks (PubMed:1610568). {ECO:0000269|PubMed:1610568, ECO:0000269|PubMed:8504299}.

Sequence

MAPVLPLVLPLQPRIRLAQGLWLLSWLLALAGGVILLCSGHLLVQLRHLGTFLAPSCQFP
VLPQAALAAGAVALGTGLVGVGASRASLNAALYPPWRGVLGPLLVAGTAGGGGLLVVGLG
LALALPGSLDEALEEGLVTALAHYKDTEVPGHCQAKRLVDELQLRYHCCGRHGYKDWFGV
QWVSSRYLDPGDRDVADRIQSNVEGLYLTDGVPFSCCNPHSPRPCLQNRLSDSYAHPLFD
PRQPNQNLWAQGCHEVLLEHLQDLAGTLGSMLAVTFLLQALVLLGLRYLQTALEGLGGVI
DAGGETQGYLFPSGLKDMLKTAWLQGGVACRPAPEEAPPGEAPPKEDLSEA

Sequence length

351

Interactions

View interactions

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Macular dystrophy	macular dystrophy	N/A	N/A	ClinVar
Metabolic Syndrome	Serum bilirubin levels in metabolic syndrome	N/A	N/A	GWAS
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar
Retinitis Pigmentosa	retinitis pigmentosa, Retinitis Pigmentosa, Dominant, retinitis pigmentosa 7	N/A	N/A	ClinVar, GenCC

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Blindness	Associate	34440333
Carcinogenesis	Associate	33680068
Disease	Associate	30630813
Lung Neoplasms	Inhibit	16756685
Lung Neoplasms	Associate	33680068
Macular Degeneration	Associate	20335603, 30630813
Neoplasms	Associate	33680068
Retinitis Pigmentosa	Associate	16799052, 19096719, 34440333, 9007328, 9187681
Stargardt Disease	Associate	35353811
Vitelliform Macular Dystrophy	Associate	8279475

ROM1 (retinal outer segment membrane protein 1)