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FLASH GENE
Symbol TMEM165 contributors: mct - updated : 20-08-2012
HGNC name transmembrane protein 165
HGNC id 30760
Corresponding disease
CDG2K congenital disorder of glycosylation type IIk
Location 4q12      Physical location : 56.262.089 - 56.292.342
Synonym name
  • uncharacterized hypothalamus protein HTMP
  • TPA regulated locus
  • transmembrane protein TPARL
  • transmembrane protein PT27
  • Synonym symbol(s) TMPT27, TPARL, CDG2K, FT27, GDT1
    DNA
    TYPE functioning gene
    STRUCTURE 30.25 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1983 35 324 - 2012 22683087
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   moderately
    Lymphoid/Immunelymph node   moderately
     thymus   highly
    Reproductivefemale systembreastmammary gland highly Homo sapiens
    Respiratorylung   lowly
     respiratory tractlarynx  lowly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period pregnancy
    Text
  • highly expressed in the lactating mammary gland
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal signal sequence
  • 6 predicted transmembrane domains
  • HOMOLOGY
    interspecies ortholog to murine Tparl
    Homologene
    FAMILY
  • UPF0016 family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    text
  • integral to membrane
  • perinuclear Golgi-like distribution, present in the late Golgi (trans) rather than in the early Golgi (cis and median)
  • basic FUNCTION
  • important role for TMEM165 in Golgi glycosylation and Golgi morphology maintenance
  • is potentially responsible for passive proton leakage within the secretory pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDG2K
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS