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UniProtKB - Q9BSE2 (TMM79_HUMAN)
Protein
Transmembrane protein 79
Gene
TMEM79
Organism
Homo sapiens (Human)
Status
Functioni
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).
By similarityGO - Molecular functioni
- identical protein binding Source: IntAct
GO - Biological processi
- cornification Source: Ensembl
- cuticle development Source: Ensembl
- epithelial cell maturation Source: UniProtKB
- establishment of skin barrier Source: UniProtKB
- hair follicle morphogenesis Source: Ensembl
- positive regulation of epidermis development Source: UniProtKB
- regulated exocytosis Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q9BSE2 |
SignaLinki | Q9BSE2 |
Names & Taxonomyi
Protein namesi | Recommended name: Transmembrane protein 79Alternative name(s): Mattrin |
Gene namesi | Name:TMEM79 Synonyms:MATT |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28196, TMEM79 |
MIMi | 615531, gene |
neXtProti | NX_Q9BSE2 |
VEuPathDBi | HostDB:ENSG00000163472 |
Subcellular locationi
Golgi apparatus
- trans-Golgi network By similarity
Lysosome
- Lysosome By similarity
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
Note: Colocalized with TGOLN2 in the trans-Golgi network. Colocalized with LAMP1 in the lysosome (By similarity).By similarity
Golgi apparatus
- trans-Golgi network membrane Source: UniProtKB
Lysosome
- lysosomal membrane Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 203 | CytoplasmicSequence analysisAdd BLAST | 203 | |
Transmembranei | 204 – 224 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 225 – 243 | ExtracellularSequence analysisAdd BLAST | 19 | |
Transmembranei | 244 – 264 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 265 – 282 | CytoplasmicSequence analysisAdd BLAST | 18 | |
Transmembranei | 283 – 303 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 304 – 312 | ExtracellularSequence analysis | 9 | |
Transmembranei | 313 – 333 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 334 – 342 | CytoplasmicSequence analysis | 9 | |
Transmembranei | 343 – 363 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 364 – 394 | ExtracellularSequence analysisAdd BLAST | 31 |
Keywords - Cellular componenti
Golgi apparatus, Lysosome, MembranePathology & Biotechi
Involvement in diseasei
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.1 Publication
Organism-specific databases
DisGeNETi | 84283 |
OpenTargetsi | ENSG00000163472 |
PharmGKBi | PA143485632 |
Miscellaneous databases
Pharosi | Q9BSE2, Tbio |
Genetic variation databases
BioMutai | TMEM79 |
DMDMi | 74752301 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000254118 | 1 – 394 | Transmembrane protein 79Add BLAST | 394 |
Proteomic databases
MassIVEi | Q9BSE2 |
MaxQBi | Q9BSE2 |
PaxDbi | Q9BSE2 |
PeptideAtlasi | Q9BSE2 |
PRIDEi | Q9BSE2 |
ProteomicsDBi | 78880 |
PTM databases
iPTMneti | Q9BSE2 |
PhosphoSitePlusi | Q9BSE2 |
Expressioni
Tissue specificityi
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).2 Publications
Gene expression databases
Bgeei | ENSG00000163472, Expressed in esophagus mucosa and 145 other tissues |
ExpressionAtlasi | Q9BSE2, baseline and differential |
Genevisiblei | Q9BSE2, HS |
Organism-specific databases
HPAi | ENSG00000163472, Tissue enhanced (esophagus, skin, vagina) |
Interactioni
Binary interactionsi
Q9BSE2
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 124010, 69 interactors |
IntActi | Q9BSE2, 38 interactors |
MINTi | Q9BSE2 |
STRINGi | 9606.ENSP00000384748 |
Miscellaneous databases
RNActi | Q9BSE2, protein |
Structurei
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 107 | DisorderedSequence analysisAdd BLAST | 107 |
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QVUB, Eukaryota |
GeneTreei | ENSGT00390000002390 |
HOGENOMi | CLU_062246_1_0_1 |
InParanoidi | Q9BSE2 |
OMAi | YYMFLVE |
OrthoDBi | 963760at2759 |
PhylomeDBi | Q9BSE2 |
TreeFami | TF333310 |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
Q9BSE2-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MTEQETLALL EVKRSDSPEK SSPQALVPNG RQPEGEGGAE SPGAESLRVG
60 70 80 90 100
SSAGSPTAIE GAEDGLDSTV SEAATLPWGT GPQPSAPFPD PPGWRDIEPE
110 120 130 140 150
PPESEPLTKL EELPEDDANL LPEKAARAFV PIDLQCIERQ PQEDLIVRCE
160 170 180 190 200
AGEGECRTFM PPRVTHPDPT ERKWAEAVVR PPGCSCGGCG SCGDREWLRA
210 220 230 240 250
VASVGAALIL FPCLLYGAYA FLPFDVPRLP TMSSRLIYTL RCGVFATFPI
260 270 280 290 300
VLGILVYGLS LLCFSALRPF GEPRREVEIH RRYVAQSVQL FILYFFNLAV
310 320 330 340 350
LSTYLPQDTL KLLPLLTGLF AVSRLIYWLT FAVGRSFRGF GYGLTFLPLL
360 370 380 390
SMLMWNLYYM FVVEPERMLT ATESRLDYPD HARSASDYRP RPWG
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5SZW9 | Q5SZW9_HUMAN | Transmembrane protein 79 | TMEM79 | 132 | Annotation score: | ||
Q5SZX3 | Q5SZX3_HUMAN | Transmembrane protein 79 | TMEM79 | 175 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_028815 | 147 | V → M May be associated with atopic dermatitis. 1 PublicationCorresponds to variant dbSNP:rs6684514Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK315767 mRNA Translation: BAG38119.1 AL589685 Genomic DNA No translation available. CH471121 Genomic DNA Translation: EAW52971.1 CH471121 Genomic DNA Translation: EAW52972.1 BC005094 mRNA Translation: AAH05094.1 |
CCDSi | CCDS1138.1 |
RefSeqi | NP_115699.1, NM_032323.2 |
Genome annotation databases
Ensembli | ENST00000295694; ENSP00000295694; ENSG00000163472 ENST00000405535; ENSP00000384748; ENSG00000163472 |
GeneIDi | 84283 |
KEGGi | hsa:84283 |
MANE-Selecti | ENST00000405535.3; ENSP00000384748.2; NM_032323.3; NP_115699.1 |
UCSCi | uc009wrw.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK315767 mRNA Translation: BAG38119.1 AL589685 Genomic DNA No translation available. CH471121 Genomic DNA Translation: EAW52971.1 CH471121 Genomic DNA Translation: EAW52972.1 BC005094 mRNA Translation: AAH05094.1 |
CCDSi | CCDS1138.1 |
RefSeqi | NP_115699.1, NM_032323.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 124010, 69 interactors |
IntActi | Q9BSE2, 38 interactors |
MINTi | Q9BSE2 |
STRINGi | 9606.ENSP00000384748 |
PTM databases
iPTMneti | Q9BSE2 |
PhosphoSitePlusi | Q9BSE2 |
Genetic variation databases
BioMutai | TMEM79 |
DMDMi | 74752301 |
Proteomic databases
MassIVEi | Q9BSE2 |
MaxQBi | Q9BSE2 |
PaxDbi | Q9BSE2 |
PeptideAtlasi | Q9BSE2 |
PRIDEi | Q9BSE2 |
ProteomicsDBi | 78880 |
Protocols and materials databases
Antibodypediai | 34211, 86 antibodies from 19 providers |
DNASUi | 84283 |
Genome annotation databases
Ensembli | ENST00000295694; ENSP00000295694; ENSG00000163472 ENST00000405535; ENSP00000384748; ENSG00000163472 |
GeneIDi | 84283 |
KEGGi | hsa:84283 |
MANE-Selecti | ENST00000405535.3; ENSP00000384748.2; NM_032323.3; NP_115699.1 |
UCSCi | uc009wrw.3, human |
Organism-specific databases
CTDi | 84283 |
DisGeNETi | 84283 |
GeneCardsi | TMEM79 |
HGNCi | HGNC:28196, TMEM79 |
HPAi | ENSG00000163472, Tissue enhanced (esophagus, skin, vagina) |
MIMi | 615531, gene |
neXtProti | NX_Q9BSE2 |
OpenTargetsi | ENSG00000163472 |
PharmGKBi | PA143485632 |
VEuPathDBi | HostDB:ENSG00000163472 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QVUB, Eukaryota |
GeneTreei | ENSGT00390000002390 |
HOGENOMi | CLU_062246_1_0_1 |
InParanoidi | Q9BSE2 |
OMAi | YYMFLVE |
OrthoDBi | 963760at2759 |
PhylomeDBi | Q9BSE2 |
TreeFami | TF333310 |
Enzyme and pathway databases
PathwayCommonsi | Q9BSE2 |
SignaLinki | Q9BSE2 |
Miscellaneous databases
BioGRID-ORCSi | 84283, 18 hits in 1044 CRISPR screens |
GenomeRNAii | 84283 |
Pharosi | Q9BSE2, Tbio |
PROi | PR:Q9BSE2 |
RNActi | Q9BSE2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163472, Expressed in esophagus mucosa and 145 other tissues |
ExpressionAtlasi | Q9BSE2, baseline and differential |
Genevisiblei | Q9BSE2, HS |
Family and domain databases
MobiDBi | Search... |
Entry informationi
Entry namei | TMM79_HUMAN | |
Accessioni | Q9BSE2Primary (citable) accession number: Q9BSE2 Secondary accession number(s): B2RE22, D3DVB8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 31, 2006 |
Last sequence update: | June 1, 2001 | |
Last modified: | February 23, 2022 | |
This is version 137 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot