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FLASH GENE
Symbol RP1L1 contributors: mct/npt - updated : 12-11-2009
HGNC name retinitis pigmentosa 1-like 1
HGNC id 15946
Corresponding disease
OMACD occult macular dystrophy
Location 8p23.1      Physical location : 10.463.861 - 10.512.617
Synonym symbol(s) DC4B, DCDC4B
DNA
TYPE functioning gene
STRUCTURE 48.76 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
TNKS 8p11 tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase LOC389623 8 LOC389623 MSRA 8p23.1 methionine sulfoxide reductase A LOC346702 8p23.1 similar to tryptophan/serine protease RP1L1 8p23 retinitis pigmentosa 1-like 1 LOC203076 8p23.1 similar to 4930578I06Rik protein SOX7 8p22 SRY (sex determining region Y)-box 7 PINX1 8p23 SRY (sex determining region Y)-box 7 LOC389624 8 LOC389624 LOC286046 8p23.1 hypothetical protein LOC286046 C8orf5 8p22 chromosome 8 open reading frame 5 C8orf15 8p23.1 chromosome 8 open reading frame 15 C8orf6 8p23.1 chromosome 8 open reading frame 6 C8orf7 8p22 chromosome 8 open reading frame 7 LOC392193 8 similar to 60S ribosomal protein L19 LOC157740 8p23.1 hypothetical protein C8orf9 MTMR9 8p23-p22 myotubularin related protein 9 AMAC 8p22 acyl-malonyl condensing enzyme TDH 8p22 L-threonine dehydrogenase C8orf12 8p22 chromosome 8 open reading frame 12 C8orf13 8p22 chromosome 8 open reading frame 13 BLK 8p23-p22 B lymphoid tyrosine kinase C8orf14 8p22 chromosome 8 open reading frame 14 GATA4 8p23.1 GATA binding protein 4
RNA
TRANSCRIPTS type messenger
text several length polymorphisms, three distinct polyadenylation signals
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 7978 - 2400 - Bowne (2003)
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Visualeyeretina  specific
cells
SystemCellPubmedSpeciesStageRna symbol
Visualcone photoreceptor
Visualrod photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two N-terminal doublecortin (DC) domains
  • two C-terminal coiled-coil domains
  • HOMOLOGY
    interspecies ortholog to murine Rp1hl1
    intraspecies paralog to RP1
    Homologene
    FAMILY
    CATEGORY signaling
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • playing a role in visual perception
  • plays essential roles in the cone functions
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text intracellular signaling cascade
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by TH (Liu 2007)
    ASSOCIATED DISORDERS
    corresponding disease(s) OMACD
    Susceptibility
    Variant & Polymorphism SNP highly polymorphic
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS