Tmem79
entrez
71913
canonical
uniprot
Q9D709
canonical
ensembl
ENSMUSG00000001420
resolver
ensp
ENSMUSP00000001456
resolver
ensp
ENSMUSP00000103176
resolver
ensp
ENSMUSP00000103177
resolver
ensp
ENSMUSP00000255436
resolver
enst
ENSMUST00000001456
resolver
enst
ENSMUST00000107552
resolver
enst
ENSMUST00000107553
resolver
genesymbol
Tmem79
resolver
genesymbol_syn
Matt
resolver
uniprot_entry
TMM79_MOUSE
resolver
amino_acid_sequence
MTEPETLALLDMKEPETPEKSPPQALVLQSEEEGGTESPGTESLRVGSSVGSPIVREGPEDGPDSTISEAATLPWGTDPHPSAPLPDPPGWRDIEPEPLESEAPTKSEEPFKEDANLLPEKTVRAFVPIDLQCIERKPQEERILHRDAGPGELRNFLPARLSHPEPPERKWAEAVVRPPGRSCGGCGSCGGREALRAVASVVAALIFFPCLLYGAYAFLPFDAPRLPTMSSRLVYTLRCGVFATFPIVLGLLVYGLSLLCFSALRPFGEPRREVEIHRQYVAQSVQLFILYFFNLAVLSTYLPQDTLKLLPLLTGLFAISRLIYWLTFAVGRSFRGFGYGLTFLPLLAMLVWNLYYMFVVEPERMLTASESRLDYPDHARSVSDYRPRSWG
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Tmem79 are the cause of the spontaneous matted (matt) mutant phenotype, a model for human atopic dermatitis. Atopic dermatitis (ma/ma) mice have a matted hair phenotype with progressive dermatitis-like skin inflammation and a scratching behavior. Mice display an altered skin barrier that facilitates allergic sensitization. {ECO:0000269|PubMed:24084074}.
uniprot
proteins
function
FUNCTION: Contributes to the epidermal integrity and skin barrier function. Plays a role in the lamellar granule (LG) secretory system and in the stratum corneum (SC) epithelial cell formation. {ECO:0000269|PubMed:24060273}.
uniprot
proteins
mass_dalton
43464
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
24060273
uniprot
proteins
pubmed
24084074
uniprot
proteins
sequence_length
391
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:24060273}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:24060273}. Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Note=Colocalized with TGOLN2 in the trans-Golgi network. Colocalized with LAMP1 in the lysosome.
uniprot
proteins
transmembrane_region
TRANSMEM 201..221; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 241..261; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 280..300; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 310..330; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 340..360; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins