• Gene id: 6094

Gene Summary

• Gene Symbol: ROM1   Gene   UCSC   Ensembl
• Aliases: ROM, ROSP1, RP7, TSPAN23
• Gene name: retinal outer segment membrane protein 1
• Alternate names: rod outer segment membrane protein 1, tetraspanin-23,
• Gene location: 11q12.3 (62613256: 62615115)     Exons: 3     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 601929

Protein Summary

• Protein general information: Q03395  
  • Name: Rod outer segment membrane protein 1 (ROSP1) (Tetraspanin 23) (Tspan 23)
  • Length: 351  
  • Mass: 37205
  • Tissue specificity: Retina photoreceptors (at protein level) (PubMed
• Sequence:

  MAPVLPLVLPLQPRIRLAQGLWLLSWLLALAGGVILLCSGHLLVQLRHLGTFLAPSCQFPVLPQAALAAGAVALG
  TGLVGVGASRASLNAALYPPWRGVLGPLLVAGTAGGGGLLVVGLGLALALPGSLDEALEEGLVTALAHYKDTEVP
  GHCQAKRLVDELQLRYHCCGRHGYKDWFGVQWVSSRYLDPGDRDVADRIQSNVEGLYLTDGVPFSCCNPHSPRPC
  LQNRLSDSYAHPLFDPRQPNQNLWAQGCHEVLLEHLQDLAGTLGSMLAVTFLLQALVLLGLRYLQTALEGLGGVI
  DAGGETQGYLFPSGLKDMLKTAWLQGGVACRPAPEEAPPGEAPPKEDLSEA

• Structural information:
  • Interpro: IPR000830  IPR018498  IPR042026  IPR018499  IPR008952  
  • Prosite: PS00930
  • CDD: cd03162
  • STRING: ENSP00000278833
• Other Databases: GeneCards:  ROM1  Malacards:  ROM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0010468	regulation of gene expression	IEA	biological process
GO:0042622	photoreceptor outer segment membrane	IEA	cellular component
GO:0060042	retina morphogenesis in camera-type eye	IEA	biological process
GO:0061298	retina vasculature development in camera-type eye	IEA	biological process
GO:0060219	camera-type eye photoreceptor cell differentiation	IEA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0010468	regulation of gene expression	IEA	biological process
GO:0042622	photoreceptor outer segment membrane	IEA	cellular component
GO:0060042	retina morphogenesis in camera-type eye	IEA	biological process
GO:0061298	retina vasculature development in camera-type eye	IEA	biological process
GO:0060219	camera-type eye photoreceptor cell differentiation	IEA	biological process

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq