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FLASH GENE
Symbol TTC3 contributors: mct/npt - updated : 20-05-2009
HGNC name tetratricopeptide repeat domain 3
HGNC id 12393
Location 21q22.13      Physical location : 38.445.570 - 38.575.406
Synonym name
  • tetratricopeptide-repeat containing gene isoform 3
  • RING finger protein 105
  • TPR repeat protein D
  • protein DCRR1
  • Synonym symbol(s) TPRD3, DCRR1, TPRD, TPRDI, TPRDII, TPRDIII, RNF105, DKFZp686M0150
    DNA
    TYPE functioning gene
    STRUCTURE 129.84 kb     46 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    PPP1R2P2 21q22.13 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 2 RPL23AP3 21q22.2 ribosomal protein L23a pseudogene 3 C21orf18 21q22.13 chromosome 21 open reading frame 18 RIMKLP 21q22.13 ribosomal modification protein rimK-like (E. coli) pseudogene CBR1 21q22.2 carbonyl reductase 1 LOC388822 21 similar to Protein CGI-27 (C21orf19-like protein) LOC391280 21 similar to ribosomal protein S9 CBR3 21q22.2 carbonyl reductase 3 C21orf5 21q22.2 chromosome 21 open reading frame 5 RPL3P1 21q22.2 ribosomal protein L3 pseudogene 1 ZCWCC3 21q22.13 zinc finger, CW-type with coiled-coil domain 3 CHAF1B 21q22.2 chromatin assembly factor 1, subunit B (p60) CLDN14 21q22.3 claudin 14 PSMD15 21q22.13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 15 LOC388823 21 LOC388823 SIM2 21q22.2 single-minded homolog 2 (Drosophila) HLCS 21q22.2 holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase) MRPL20P1 21q22.2 holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase) DSCR6 21q22.2 Down syndrome critical region gene 6 DSCR5 21q22.2 Down syndrome critical region gene 5 TTC3 21q22.2 tetratricopeptide repeat domain 3 DSCR9 21q22.13 Down syndrome critical region gene 9 DSCR3 21q22.3 Down syndrome critical region gene 3 DYRK1A 21q22.2 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A KCNJ6 21q22.2 potassium inwardly-rectifying channel, subfamily J, member 6 DSCR4 21q22.2 Down syndrome critical region gene 4 DSCR8 21q22.2 Down syndrome critical region gene 8 DSCR10 21q22.2 Down syndrome critical region gene 10
    RNA
    TRANSCRIPTS type messenger
    text gene isoform 3, on the Down syndrome critical region
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    45 - 9021 229.9 2025 - Tsukahara (1998), Berto (2007)
    - initiation site 8992 - 1792 - Tsukahara (1998)
    - initiation site 7416 - 1715 - Tsukahara (1998)
    two third of the TPR motif
    - - 7360 220.2 1945 testis only Eki (1997)
    45 - 7730 - 2025 - Berto(2007)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   highly
    Hearing/Equilibriumear   highly
    Reproductivefemale systemuterus  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text ubiquitous
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal protein phosphatase domain
  • a coiled coil region within the TPR made of three tetratricopeptide repeats near in the C terminal region
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • inhibits neuronal differentiation via RhoA and Citron kinase (Berto 2007)
  • polyubiquitin binding protein involved in NF-kappaB signaling (Fenner 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    TTC3-RhoA-CIT-K pathway that could be a crucial determinant of neuronal development, whose hyperactivity may result in detrimental effects on the normal differentiation program (Berto 2007)
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein interacts with Citron kinase (CIT-K) and Citron N (CIT-N), two effectors of the RhoA small GTPase that have previously been involved in neuronal proliferation and differentiation (Berto 2007)
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS