TMEM79
entrez
84283
canonical
uniprot
Q9BSE2
canonical
ensembl
ENSG00000163472
resolver
ensp
ENSP00000295694
resolver
ensp
ENSP00000384748
resolver
ensp
ENSP00000575756
resolver
ensp
ENSP00000583347
resolver
enst
ENST00000295694
resolver
enst
ENST00000405535
resolver
enst
ENST00000905697
resolver
enst
ENST00000913288
resolver
genesymbol
TMEM79
resolver
genesymbol_syn
MATT
resolver
hgnc
HGNC:28196
resolver
uniprot
B2RE22
resolver
uniprot
D3DVB8
resolver
uniprot_entry
TMM79_HUMAN
resolver
uniprot_sec
B2RE22
resolver
uniprot_sec
D3DVB8
resolver
amino_acid_sequence
MTEQETLALLEVKRSDSPEKSSPQALVPNGRQPEGEGGAESPGAESLRVGSSAGSPTAIEGAEDGLDSTVSEAATLPWGTGPQPSAPFPDPPGWRDIEPEPPESEPLTKLEELPEDDANLLPEKAARAFVPIDLQCIERQPQEDLIVRCEAGEGECRTFMPPRVTHPDPTERKWAEAVVRPPGCSCGGCGSCGDREWLRAVASVGAALILFPCLLYGAYAFLPFDVPRLPTMSSRLIYTLRCGVFATFPIVLGILVYGLSLLCFSALRPFGEPRREVEIHRRYVAQSVQLFILYFFNLAVLSTYLPQDTLKLLPLLTGLFAVSRLIYWLTFAVGRSFRGFGYGLTFLPLLSMLMWNLYYMFVVEPERMLTATESRLDYPDHARSASDYRPRPWG
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in TMEM79 may be associated with susceptibility to atopic dermatitis. Atopic dermatitis is a complex, inflammatory disease with multiple alleles at several loci thought to be involved in the pathogenesis. It commonly begins in infancy or early childhood and is characterized by a chronic relapsing form of skin inflammation, a disturbance of epidermal barrier function that culminates in dry skin, and IgE-mediated sensitization to food and environmental allergens. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. {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 (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
43520
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
24060273
uniprot
proteins
pubmed
24084074
uniprot
proteins
sequence_length
394
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome {ECO:0000250}. Golgi apparatus, trans-Golgi network {ECO:0000250}. Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Note=Colocalized with TGOLN2 in the trans-Golgi network. Colocalized with LAMP1 in the lysosome (By similarity). {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 204..224; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 244..264; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 283..303; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 313..333; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 343..363; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins