• Gene id: 6017

Gene Summary

• Gene Symbol: RLBP1   Gene   UCSC   Ensembl
• Aliases: CRALBP
• Gene name: retinaldehyde binding protein 1
• Alternate names: retinaldehyde-binding protein 1, cellular retinaldehyde-binding protein, cellular retinaldehyde-binding protein-1,
• Gene location: 15q26.1 (89223178: 89209868)     Exons: 9     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe ro
• OMIM: 601978

Protein Summary

• Protein general information: P12271  
  • Name: Retinaldehyde binding protein 1 (Cellular retinaldehyde binding protein)
  • Length: 317  
  • Mass: 36474
  • Tissue specificity: Retina and pineal gland. Not present in photoreceptor cells but is expressed abundantly in the adjacent retinal pigment epithelium (RPE) and in the Mueller glial cells of the retina. {ECO
• Sequence:

  MSEGVGTFRMVPEEEQELRAQLEQLTTKDHGPVFGPCSQLPRHTLQKAKDELNEREETREEAVRELQEMVQAQAA
  SGEELAVAVAERVQEKDSGFFLRFIRARKFNVGRAYELLRGYVNFRLQYPELFDSLSPEAVRCTIEAGYPGVLSS
  RDKYGRVVMLFNIENWQSQEITFDEILQAYCFILEKLLENEETQINGFCIIENFKGFTMQQAASLRTSDLRKMVD
  MLQDSFPARFKAIHFIHQPWYFTTTYNVVKPFLKSKLLERVFVHGDDLSGFYQEIDENILPSDFGGTLPKYDGKA
  VAEQLFGPQAQAENTAF

• Structural information:
  • Protein Domains: (136..29-)
    (/note="CRAL-TRIO-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00056"-)
  • Interpro: IPR001251  IPR036865  IPR011074  IPR036273  IPR032941  
  • Prosite: PS50191
  • CDD: cd00170
  • PDB: 1XGG 1XGH 3HX3 3HY5 4CIZ 4CJ6
  • PDBsum: 1XGG 1XGH 3HX3 3HY5 4CIZ 4CJ6
  • STRING: ENSP00000268125
• Other Databases: GeneCards:  RLBP1  Malacards:  RLBP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902936	phosphatidylinositol bisphosphate binding	IBA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0016918	retinal binding	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0019841	retinol binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006776	vitamin A metabolic process	TAS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005502	11-cis retinal binding	IEA	molecular function
GO:0044297	cell body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Familial flecked retina syndrome	KEGG:H00825
Newfoundland rod-cone dystrophy	KEGG:H01009
Retinitis pigmentosa	KEGG:H00527
Familial flecked retina syndrome	KEGG:H00825
Newfoundland rod-cone dystrophy	KEGG:H01009
Retinitis pigmentosa	PMID:11176989
Night blindness	PMID:11453974
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881