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FLASH GENE
Symbol TTC8 contributors: mct/npt/pgu - updated : 03-03-2015
HGNC name tetratricopeptide repeat domain 8
HGNC id 20087
Corresponding disease
BBS8 Bardet-Biedl syndrome 8
RP51 retinitis pigmentosa 51
Location 14q31.3      Physical location : 89.290.977 - 89.344.334
Synonym name
  • TPR repeat protein 8
  • Bardet-Biedl syndrome 8 protein
  • Synonym symbol(s) BBS8
    DNA
    TYPE functioning gene
    STRUCTURE 53.36 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC283586 14q31.3 hypothetical LOC283586 GALC 14q31 galactosylceramidase (Krabbe disease) GPR65 14q31.1 G protein-coupled receptor 65 LOC283587 14q31.3 hypothetical protein LOC283587 KCNK10 14q31 potassium channel, subfamily K, member 10 SPATA7 14q31.3 spermatogenesis associated 7 PTPN21 14q31.1 protein tyrosine phosphatase, non-receptor type 21 FLJ11806 14q31.3 nuclear protein UKp68 EML5 14q31.3 echinoderm microtubule associated protein like 5 TTC8 14q31.3 tetratricopeptide repeat domain 8 LOC390501 14 similar to MPPE1 protein CHES1 14q24.3-q31 checkpoint suppressor 1 C14orf116 14q31.3 chromosome 14 open reading frame 116 CAP2P1 14 CAP, adenylate cyclase-associated protein, 2 (yeast) pseudogene 1 PRO1768 14q32.11 PRO1768 protein CHORDC2P 14 cysteine and histidine-rich domain (CHORD)-containing 2 pseudogene C14orf143 14q32.11 chromosome 14 open reading frame 143 TDP1 14q32.11 tyrosyl-DNA phosphodiesterase 1 KCNK13 14q24.1-q24.3 potassium channel, subfamily K, member 13 GLRXP2 14q32.13-q32.2 glutaredoxin pseudogene 2 PSMC1 19p13.3 proteasome (prosome, macropain) 26S subunit, ATPase, 1 C14orf102 14q32.11 chromosome 14 open reading frame 102 RPL21P11 14q32.11 ribosomal protein L21 pseudogene 11 CALM1 14q24-q31 calmodulin 1 (phosphorylase kinase, delta) TTC7L1 14q32.12 tetratricopeptide repeat domain 7 like 1 RPS18P2 14 ribosomal protein S18 pseudogene 2 LOC283588 14q32.12 hypothetical protein LOC283588 RPS6KA5 14q31-q32.1 ribosomal protein S6 kinase, 90kDa, polypeptide 5 C14orf159 14q32.12 chromosome 14 open reading frame 159 GPR68 14q31 G protein-coupled receptor 68
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2248 - 515 - 2003 14520415
    14 splicing 2218 - 505 - 2003 14520415
    13 splicing 2128 - 475 - 2003 14520415
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
     parathyroid   highly
    Nervousbrain    
    Olfactory (smell)      Homo sapiens
    Reproductivemale systemprostate  highly
    Respiratorylung   moderately Homo sapiens
    Urinarykidney   moderately Homo sapiens
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensoryolfactory highly Homo sapiens
    Epithelialsensoryvisualphotoreceptor layer  Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Olfactoryolfactory receptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • eight TPR repeats
  • HOMOLOGY
    interspecies homolog to Drosophila CG13691
    homolog to C.elegans T25F10.5
    ortholog to murine Ttc8
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text basal bodies and centrosome, ciliated dendritic endings of sensory neurons(and in connecting cilium of the retina)
    basic FUNCTION
  • involved in planar cell polarity
  • required for normal localization of specific intraflagellar transport and in general intracellular transport
  • required for the localization of G protein-coupled receptors to primary cilia on central neurons
  • mediate LEPR trafficking and impaired LEPR signaling underlies energy imbalance in the disease
  • could participate, at the base of cilia, in a gate-keeping mechanism that allows only appropriate proteins access to the ciliary compartment
  • play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RHOA levels
  • potential role for TTC8 and/or IFT20, possibly upstream of core planar cell polarity (PCP) asymmetry
  • ciliary genes FAM161A and TTC8 have been implicated in retinal degeneration (RD)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • part of complex composed of seven highly conserved BBS proteins, the BBSome, localized to nonmembranous centriolar satellites in the cytoplasm but also to the membrane of the cilium
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PCM1
  • direct interactions of TTC8 and IFT20 with VANGL2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BBS8 , RP51
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Bbs8-null mice have reduced olfactory responses to a number of odorants, and immunohistochemical analyses reveal a near-complete loss of cilia from olfactory sensory neurons and mislocalization of proteins normally enriched in cilia