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FLASH GENE
Symbol TMEM30A contributors: mct - updated : 14-01-2013
HGNC name transmembrane protein 30A
HGNC id 16667
Location 6q14.1      Physical location : 75.962.637 - 75.994.632
Synonym name
  • chromosome 6 open reading frame 67
  • Synonym symbol(s) FLJ10856, C6orf67, CDC50A
    DNA
    TYPE like-sequence
    STRUCTURE 31.99 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 4436 - 325 - 2011 21454556
    7 - 4544 - 361 - 2011 21454556
    EXPRESSION
    Rna function
  • mRNA was expressed in embryonic stem (ES) cells, placenta, brain and chondrosarcoma
  • Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly Mus musculus
     stomach     Homo sapiens
    Endocrinepancreas     Homo sapiens
     parathyroid   highly
    Nervousbrain    
    Reproductivefemale systemplacenta   
    Respiratoryrespiratory tracttrachea  highly
    Urinarykidneytubuleconvoluted tubule   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte Mus musculus
    cell lineage
    cell lines chondrosarcoma cell lines
    fluid/secretion
    at STAGE
    Text in embryonic stem (ES) cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two-transmembrane-domains
  • both the transmembrane and exocytoplasmic domains are required to generate a functionally active complex
  • HOMOLOGY
    interspecies ortholog to S. Cerevisiae Lem3p
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • TMEM30A associated with and recruited ATP8A1 to the plasma membrane
  • basic FUNCTION
  • components of phospholipid-translocators
  • potentially plays a key role in perifosine uptake in human cells, presumably by forming a functional plasma membrane translocator in combination with a P4-ATPase
  • promotes uptake of antitumor and bioactive choline phospholipids into mammalian cells
  • beta-subunit of ATP8A2 and is crucial for the correct folding, stable expression, export from endoplasmic reticulum, and phosphatidylserine flippase activity of ATP8A2)
  • co-expression of ATP8A2 with TMEM30A results in the formation of properly folded heteromeric complex that is transported from the ER and to the Golgi compartment
  • ATP8A2, acting in synergy with TMEM30A, performs an important role in neurite outgrowth in neurons
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • functional ATP8A2-TMEM30A complex (N-linked glycosylation of TMEM30A plays an important role in the formation of a stable ATP8A2-CDC50A protein complex)
  • phosphatidylserine flippase complex of ATP8B1-TMEM30A counteracts the destabilization of the membrane that occurs when ABCB4 flops phosphatidylcholine
  • phospholipid flippase complex of ATP8A1 and TMEM30A plays a major role in cell migration, suggesting that the flippase-mediated translocation of phosphatidylethanolamine at the plasma membrane is involved in the formation of membrane ruffles to promote cell migration
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with ATP8A1 and ATP8A2 (are translocated from the ER to the Golgi complex and plasma membrane upon coexpression of TMEM30A
  • ATP8B1 shifted from the endoplasmic reticulum (ER) to the plasma membrane upon coexpression of TMEM30A or TMEM30B
  • interactions of TMEM30A and TMEM30B with multiple members of the human P(4)-ATPase family, suggesting that these proteins perform broader functions in human physiology than thus far assumed
  • TMEM30 is not essential for the ER exit or TGN localization of ATP9B, whereas TMEMA, but not TMEM30B, is required for ER exit and/or recycling endosomal localization of ATP11B
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS