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FLASH GENE
Symbol TULP1 contributors: mct - updated : 29-06-2011
HGNC name tubby like protein 1
HGNC id 12423
Corresponding disease
RP14 retinitis pigmentosa 14
Location 6p21.3      Physical location : 35.465.652 - 35.480.647
Synonym symbol(s) THER, TUBL1, RP14, TUL1
DNA
TYPE functioning gene
STRUCTURE 14.99 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - D6S439 - D6S2187 - D6S2003 - TULP1 - D6S2128 - D6S1875 - D6S291 - cen
Authors North (97)
Physical map
PACSIN1 6p21.3 protein kinase C and casein kinase substrate in neurons 1 SPDEF 6p21.3 SAM pointed domain containing ets transcription factor C6orf106 6p21.31 chromosome 6 open reading frame 106 MGC4614 6p21.31 hypothetical protein MGC4614 LOC391916 6 hypothetical gene supported by BC001032; NM_001014 SNRPC 6p21.2 small nuclear ribonucleoprotein polypeptide C C6orf107 6p21 chromosome 6 open reading frame 107 TAF11 6p21 TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa ANKS1 6p21.31 ankyrin repeat and SAM domain containing 1 TCP11 6p21.2 t-complex 11 (mouse) CEGF3 6p21.3 CUB domain and EGF-like repeat containing 3 ZNF76 6p21.2 zinc finger protein 76 (expressed in testis) DEF6 6p21.33-p21.1 differentially expressed in FDCP 6 homolog (mouse) PPARD 6p21.2-p21.1 peroxisome proliferative activated receptor, delta MKRNP2 6p21.1 makorin, ring finger protein, pseudogene 2 FANCE 6p22-p21 Fanconi anemia, complementation group E RPL10A 6p21.3 ribosomal protein L10a TEAD3 6p21.2 TEA domain family member 3 TULP1 6p21.3 tubby like protein 1 LOC389382 6 similar to Rps15a protein FKBP5 6p21.3-p21.2 FK506 binding protein 5 C6orf81 6p21.31 chromosome 6 open reading frame 81 LOC389383 6 similar to AAAL3045 LOC340204 6p21.31 similar to precursor peptide CLPS 6p22-p21.1 colipase, pancreatic MGC33835 6p21.31 hypothetical protein MGC33835 SRPK1 6p213-p21.2 SFRS protein kinase 1 SLC26A8 6p21 solute carrier family 26, member 8 MAPK14 6p21.2 mitogen-activated protein kinase 14 MAPK13 6p21.1 mitogen-activated protein kinase 13 BRPF3 6p21 bromodomain and PHD finger containing, 3 PNPLA1 6p21.31 patatin-like phospholipase domain containing 1 LOC389384 6 similar to RIKEN cDNA 4930539E08 ETV7 6p21 ets variant gene 7 (TEL2 oncogene ) STEPP 6p21.31 small testis-specific peroxisomal protein C6orf69 6p21.31 chromosome 6 open reading frame 69 STK38 6p21 serine/threonine kinase 38
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 2107 - 542 - 1997 9096357
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousnervecranial nerve   
Respiratoryrespiratory tractlarynx   
Visualeyeretina  highly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsensoryvisual  
cells
SystemCellPubmedSpeciesStageRna symbol
Visualcone photoreceptor Homo sapiens
Visualrod photoreceptor Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES Hydrophilic
STRUCTURE
motifs/domains
  • five minimal phagocytosis determinants of K/R(X)12KKK in the N-terminus, with five minimal phagocytic determinants (MPDs)
  • hydrophilic protein comprising two nuclear localization signals (NLS),
  • a stretch of 15 predominantly hydrophobic flanked by charged residues and reminiscent of a membrane anchor domain,
  • conserved C terminal domain of 200 AAs, PPBD domain important for TULP1 binding to phagocytosis preys
  • HOMOLOGY
    interspecies homolog to murine Tulp1
    intraspecies homolog to TUB
    Homologene
    FAMILY tubby-like gene family
    CATEGORY antigen , signaling neurotransmitter
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    text
  • inner segment of the photoreceptors
  • associates with cellular membranes and the actin cytoskeleton
  • basic FUNCTION
  • may be a component of the cellular machinery that targets nascent rhodopsin to the outer segments
  • involved in normal photoreceptor function and in retinal development
  • required to maintain viability of rod and cone photoreceptors
  • autoantigen in cancer-associated retinopathy
  • involved in the vesicular trafficking of photoreceptor proteins, both at the nerve terminal during synaptic transmission and at the inner segment during protein translocation to the outer segment
  • may function in the transport of rhodopsin from its site of synthesis in the inner segment through the connecting cilium to its final destination in the outer segment of the photoreceptor cell
  • Tubby and TULP1, but not other family members, enhanced the uptake of membrane vesicles by retinal pigment epithelium (RPE) cells in synergy
  • not only critical for photoreceptor function and survival, but is essential for the proper development of the photoreceptor synapse
  • tubby and TULP1 are new type of MERTK ligands to facilitate phagocytosis
  • tubby and TULP1 have potentially a critical function as phagocytosis ligands in the maintenance of retinal homeostasis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component member of the molecular machinery required for the polarized vesicular translocation of proteins, within photoreceptor outer segments and terminals
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with Dynamin-1 (DNM1)(colocalize to the outer plexiform layer and may play an important role in establishing or maintaining photoreceptor synaptic terminal)
  • tubby and TULP1 are new MERTK ligands and facilitate phagocytosis in a MERTK-dependent manner (TULP1 interacts with all three RTKs in the TAM subfamily)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RP14 , LCA14
    related resource TULP1Mutations
    Retinal Information Network
    Susceptibility
    Variant & Polymorphism
    Candidate gene excellent candidates for these ocular diseases as a mutation within the tub gene is known to lead to early progressive retinal degeneration
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    . the defect intulp1-/- mice is consistent with a loss of polarized transport of nascent opsin to the outer segments