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FLASH GENE
Symbol RBP1 contributors: np/mct - updated : 28-10-2010
HGNC name retinol binding protein 1, cellular
HGNC id 9919
DNA
TYPE functioning gene
STRUCTURE 22.40 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 1487 - 157 - 1999 10487743
isoform b
4 - 916 - 197 - 1999 10487743
3 - 667 - 153 - 1999 10487743
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtongue   
 pancreas exocrine    
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadiposewhite highly
Epithelialbarrier liningretinal pigment epithelium (RPE)  
cells
SystemCellPubmedSpeciesStageRna symbol
not specificadipocyte
VisualMuller cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES other
STRUCTURE
motifs/domains
an internal ligand binding site
secondary structure a single eight-stranded continuously hydrogen-bonded antiparallel beta-barrel
mono polymer monomer
HOMOLOGY
interspecies ortholog to murine Rbp1
ortholog to rattus rbp1
Homologene
FAMILY
  • cellular, lipocalin family, Kernel group
  • CATEGORY chaperone/stress , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • essential for vitamin A homeostasis
  • involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue
  • reducing the oxidation of all-trans retinol by RDH12
  • small cytosolic binding protein for retinol and retinaldehyde, specifically expressed in preadipocytes that regulates adipocyte differentiation in part by affecting PPARG activity
  • influences photoreceptor outer segment assembly through a mechanism unrelated to rhodopsin regeneration, and have a role in modulating the proper folding of nascent outer segment membranes through retinoic acid
  • having an important role as a non-transcriptionally active preadipocyte factor that is involved in adipocyte differentiation
  • play different roles in the maintenance of vitamin A homeostasis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism vitamin
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds retinol and its immediate oxidation product retinaldehyde
  • binds to the pocket region of RB1 via an LXCXE motif and to the SAP30 subunit of the mSin3·HDAC complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    early in cervical carcinogenesis
    constitutional       loss of function
    leads to a proadipogenic phenotype with significantly enhanced adipocyte differentiation and increased intracellular TG accumulation due to augmented PPAR{gamma} activity
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS