ROM1 (retinal outer segment membrane protein 1)

Gene

• Entrez ID: 6094
• Gene name: Retinal outer segment membrane protein 1
• Gene symbol: ROM1
• Synonyms (NCBI Gene): ROM, ROSP1, RP7, TSPAN23
• Chromosome: 11
• Chromosome location: 11q12.3
• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 180721
• HGNC: 10254
• e!Ensembl: 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Macular dystrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal dystrophy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa 7	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis pigmentosa 7, digenic	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa, Dominant	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROM1-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult-onset night blindness	Night Blindness	HPO_DG			★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	20335603		★☆☆☆☆ Found in Text Mining only
Arthritis, Suppurative	Suppurative arthritis	BEFREE	31243926		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	29386280		★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	34440333	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30561010		★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	28087121		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33680068	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29129842		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	29679921		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29129842		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	28419886		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	28087121		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28567511, 29139570		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23703342		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	BEFREE	30001292		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29129842		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27889457		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	16756685	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33680068	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	20335603, 30630813	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	BEFREE	20335603		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Macular Edema, Cystoid	Cystoid macular edema	BEFREE	8004098		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30561010		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29129842		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30561010		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20142594, 30561010, 31167893		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	30621171		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	28053051		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30561010		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	9007328, 9331261		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	1610568, 30307502, 7904211, 9052636		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	11297544, 11559856, 1610568, 16916875, 28053051, 28539581, 8595413, 8943002, 9187681, 9331261		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	16799052, 19096719, 34440333, 9007328, 9187681	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa 7	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa 7	Retinitis Pigmentosa	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa 7, Digenic	Retinitis Pigmentosa, Digenic	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis punctata albescens (disorder)	Retinitis punctata albescens	BEFREE	8554077		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rotator cuff syndrome	Rotator cuff syndrome	BEFREE	30334833		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	30461516		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	29070768		★☆☆☆☆ Found in Text Mining only
Spondylolisthesis	Spondylolisthesis	BEFREE	29605898		★☆☆☆☆ Found in Text Mining only
Stargardt Disease	Stargardt disease	Pubtator	35353811	Associate	★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	7713492, 7860071, 8279475		★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform macular dystrophy	Pubtator	8279475	Associate	★☆☆☆☆ Found in Text Mining only