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

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Macular dystrophy	Uncertain significance	rs200287184	RCV000787687
Optic atrophy	Uncertain significance	rs781488213	RCV004813873
Retinal dystrophy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs143166696, rs137950927, rs150168119, rs71458427, rs746554322, rs1036187889, rs1590769781, rs1464646439, rs1246812952, rs2496228432, rs1801144, rs768652143, rs200287184, rs150926409, rs747855165, rs767877192, rs190642059, rs147065010, rs753452550, rs781488213, rs145383959, rs142496524	RCV003888610 RCV003888624 RCV004816272 RCV003887860 RCV003889593 RCV003889594 RCV003889595 RCV003889597 RCV003889598 RCV003889599 RCV003888717 RCV004817828 RCV001075797 RCV003890150 RCV001074151 RCV001073471 RCV003890250 RCV003890251 RCV003890360 RCV004813872 RCV004813945 RCV004813969 RCV003887942 RCV004813987
Retinitis pigmentosa	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs143166696, rs148196509, rs146358003, rs137950927, rs150168119, rs537377404, rs71458427, rs886048435, rs886048437, rs886048438, rs566866016, rs147684283, rs3825019, rs572174792, rs3923805, rs766769824, rs1801144, rs139971812, rs576371643, rs886048440, rs141629524, rs886048441, rs539586649, rs886048439, rs201202592, rs200213584, rs202210450, rs768652143, rs144650228, rs199757012, rs200272942, rs866691973, rs1029157002, rs199847029, rs1036187889, rs190642059, rs754473229, rs1204988981, rs149255362, rs147065010, rs374968800, rs199827702, rs753460076, rs757950484, rs922097086, rs139654544, rs200287184	RCV001103768 RCV000368177 RCV001105712 RCV000284626 RCV000376751 RCV001105713 RCV000132581 RCV000398360 RCV000392788 RCV000369142 RCV000316481 RCV000315545 RCV000286575 RCV000389968 RCV000365704 RCV000329740 RCV000324552 RCV000288502 RCV000309018 RCV000261834 RCV000285910 RCV000400154 RCV000335995 RCV000277069 RCV000373478 RCV000399347 RCV000345776 RCV000626098 RCV001103857 RCV001105710 RCV001107488 RCV001106760 RCV001108919 RCV001103769 RCV001105711 RCV001106826 RCV001106827 RCV001106829 RCV001107486 RCV001107487 RCV001107489 RCV001107490 RCV001107491 RCV001103858 RCV001106759 RCV001106828 RCV001197679
Retinitis pigmentosa 7	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs201994615, rs137950927, rs71458427, rs199847029, rs747140028	RCV005634116 RCV001000395 RCV001169958 RCV001332365 RCV005633824 RCV003130208
Retinitis pigmentosa 7, digenic	Uncertain significance; Conflicting classifications of pathogenicity	rs1387102485, rs71458427	RCV000013871 RCV000013872
Retinitis Pigmentosa, Dominant	Benign; Likely benign; Uncertain significance	rs548233813, rs886048436, rs879752924	RCV000346504 RCV000339290 RCV000307424
ROM1-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs186331143, rs537377404, rs71458427, rs145958512	RCV003921055 RCV003920088 RCV004757949 RCV003950834

Associations from Text Mining
Disease Name	Relationship Type	References
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