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FLASH GENE
Symbol TMEM5 contributors: mct - updated : 16-01-2013
HGNC name transmembrane protein 5
HGNC id 13530
Corresponding disease
WLKWS8 Walker-Warburg syndrome 8
Location 12q14.2      Physical location : 64.173.636 - 64.202.887
Synonym name putative type II membrane protein
Synonym symbol(s) HP10481
DNA
TYPE functioning gene
STRUCTURE 29.25 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 1451 - 443 - 1999 10072769
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Endocrinepancreas    
Nervousbrain    
Respiratorylung    
Urinarykidney    
Visualeyelens   
 eyeuveachoroid  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a glycosyltransferase domain
  • a signal anchor for a type II membrane protein encoded by AAs 1030
  • a cytoplasmic domain encoded by AAs 19
  • a domain that has some similarities to exostosin (AAs 218353), which is a domain found in EXT1
  • an extracellular domain encoded by AAs 31443
  • HOMOLOGY
    Homologene
    FAMILY
  • TMEM5 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text type 2 transmembrane protein
    basic FUNCTION
  • transmembrane protein with a potential glycosyltransferase function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) WLKWS8
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS