Version 5.4
Homo sapiens Protein: TMEM79
Summary
InnateDB Protein IDBP-293173.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMEM79
Protein Name transmembrane protein 79
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000384748
InnateDB Gene IDBG-103452 (TMEM79)
Protein Structure
UniProt Annotation
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}.
Subcellular Localization 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}.
Disease Associations 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.
Tissue Specificity Expressed in the epidermis of the skin. Expressed in epithelial cells of the outermost layer of the stratum granulosum (SG) and hair follicles (at protein level). {ECO:0000269PubMed:24060273, ECO:0000269PubMed:24084074}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 3 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0002070 epithelial cell maturation
GO:0031069 hair follicle morphogenesis
GO:0042335 cuticle development
GO:0045055 regulated secretory pathway
GO:0045684 positive regulation of epidermis development
GO:0061436 establishment of skin barrier
GO:0070268 cornification
Cellular Component
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0016021 integral component of membrane
GO:0032588 trans-Golgi network membrane
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9BSE2
PhosphoSite PhosphoSite-Q9BSE2
TrEMBL
UniProt Splice Variant
Entrez Gene 84283
UniGene Hs.732777
RefSeq NP_115699
HUGO HGNC:28196
OMIM 615531
CCDS CCDS1138
HPRD 17481
IMGT
EMBL AK315767 AL589685 BC005094 CH471121
GenPept AAH05094 BAG38119 CAI14162 EAW52971 EAW52972

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca