• Gene id: 30813

Gene Summary

• Gene Symbol: VSX1   Gene   UCSC   Ensembl
• Aliases: CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD, RINX
• Gene name: visual system homeobox 1
• Alternate names: visual system homeobox 1, homeodomain protein RINX, retinal inner nuclear layer homeobox protein, transcription factor VSX1, visual system homeobox 1 homolog, CHX10-like,
• Gene location: 20p11.21 (22209982: 22208813)     Exons: 1     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. M
• OMIM: 605020

Protein Summary

• Protein general information: Q9NZR4  
  • Name: Visual system homeobox 1 (Homeodomain protein RINX) (Retinal inner nuclear layer homeobox protein) (Transcription factor VSX1)
  • Length: 365  
  • Mass: 38431
  • Tissue specificity: In the adult eye, expressed in lens, iris, ciliary body, choroid, optical nerve head and, most strongly, in retina, but not expressed in sclera and cornea. According to PubMed
• Sequence:

  MTGRDSLSDGRTSSRALVPGGSPRGSRPRGFAITDLLGLEAELPAPAGPGQGSGCEGPAVAPCPGPGLDGSSLAR
  GALPLGLGLLCGFGTQPPAAARAPCLLLADVPFLPPRGPEPAAPLAPSRPPPALGRQKRSDSVSTSDEDSQSEDR
  NDLKASPTLGKRKKRRHRTVFTAHQLEELEKAFSEAHYPDVYAREMLAVKTELPEDRIQVWFQNRRAKWRKREKR
  WGGSSVMAEYGLYGAMVRHCIPLPDSVLNSAEGGLLGSCAPWLLGMHKKSMGMIRKPGSEDKLAGLWGSDHFKEG
  SSQSESGSQRGSDKVSPENGLEDVAIDLSSSARQETKKVHPGAGAQGGSNSTALEGPQPGKVGAT

• Structural information:
  • Protein Domains: (224..27-)
    (/note="CVC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00829"-)
  • Interpro: IPR023339  IPR009057  IPR017970  IPR001356  
  • Prosite: PS51496 PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000365899
• Other Databases: GeneCards:  VSX1  Malacards:  VSX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0048666	neuron development	IBA	biological process
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0007601	visual perception	TAS	biological process
GO:0007601	visual perception	IEA	biological process
GO:0042551	neuron maturation	IEA	biological process
GO:0060040	retinal bipolar neuron differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0048666	neuron development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Keratoconus	KEGG:H00789
Keratoconus	KEGG:H00789
Posterior polymorphous corneal dystrophy 1	PMID:16384943
Keratoconus	PMID:18626569
Keratoconus	PMID:21976959
Keratoconus	PMID:15623752
Corneal dystrophy	PMID:15051220
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881