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FLASH GENE
Symbol TTC7A contributors: mct - updated : 08-12-2016
HGNC name tetratricopeptide repeat domain 7A
HGNC id 19750
Corresponding disease
GIDID gastrointestinal defects and immunodeficiency syndrome
Location 2p21      Physical location : 47.168.312 - 47.303.274
Synonym symbol(s) KIAA1140, GIDID, MINAT, TTC7
DNA
TYPE functioning gene
STRUCTURE 160.20 kb     21 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
21 - 5166 - 824 - 2005 15718100
21 - 5247 - 882 - 2005 15718100
20 - 5175 - 858 - 2005 15718100
19 - 5017 - 504 - 2005 15718100
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunespleen   moderately Homo sapiens
 thymus     Homo sapiens
Skin/Tegumentskin   moderately Homo sapiens
Urinarykidney   moderately Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticprogenitor cell Homo sapiens
cell lineage
cell lines
fluid/secretion blood
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • nine TPR repeats
  • HOMOLOGY
    interspecies ortholog to murine Ttc7
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • important role in the development of immune system cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TMEM150A strongly reduces the association of TTC7 with the EFR3-PI4KA complex, without impairing the localization of PI4KA at the plasma membrane
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GIDID
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS