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Protein

Transmembrane protein 79

Gene

TMEM79

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 similarity

GO - Molecular functioni

  • identical protein binding Source: IntAct

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 79
Alternative name(s):
Mattrin
Gene namesi
Name:TMEM79
Synonyms:MATT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000163472.18
HGNCiHGNC:28196 TMEM79
MIMi615531 gene
neXtProtiNX_Q9BSE2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 203CytoplasmicSequence analysisAdd BLAST203
Transmembranei204 – 224HelicalSequence analysisAdd BLAST21
Topological domaini225 – 243ExtracellularSequence analysisAdd BLAST19
Transmembranei244 – 264HelicalSequence analysisAdd BLAST21
Topological domaini265 – 282CytoplasmicSequence analysisAdd BLAST18
Transmembranei283 – 303HelicalSequence analysisAdd BLAST21
Topological domaini304 – 312ExtracellularSequence analysis9
Transmembranei313 – 333HelicalSequence analysisAdd BLAST21
Topological domaini334 – 342CytoplasmicSequence analysis9
Transmembranei343 – 363HelicalSequence analysisAdd BLAST21
Topological domaini364 – 394ExtracellularSequence analysisAdd BLAST31

Keywords - Cellular componenti

Golgi apparatus, Lysosome, Membrane

Pathology & 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

DisGeNETi84283
OpenTargetsiENSG00000163472
PharmGKBiPA143485632

Polymorphism and mutation databases

BioMutaiTMEM79
DMDMi74752301

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002541181 – 394Transmembrane protein 79Add BLAST394

Proteomic databases

MaxQBiQ9BSE2
PaxDbiQ9BSE2
PeptideAtlasiQ9BSE2
PRIDEiQ9BSE2

PTM databases

iPTMnetiQ9BSE2
PhosphoSitePlusiQ9BSE2

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

BgeeiENSG00000163472
CleanExiHS_TMEM79
ExpressionAtlasiQ9BSE2 baseline and differential
GenevisibleiQ9BSE2 HS

Organism-specific databases

HPAiHPA055214

Interactioni

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi124010, 17 interactors
IntActiQ9BSE2, 30 interactors
MINTiQ9BSE2

Structurei

3D structure databases

ProteinModelPortaliQ9BSE2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IE7M Eukaryota
ENOG4111NK6 LUCA
GeneTreeiENSGT00390000002390
HOGENOMiHOG000059668
HOVERGENiHBG075003
InParanoidiQ9BSE2
OMAiECKWAEA
OrthoDBiEOG091G0AH2
PhylomeDBiQ9BSE2
TreeFamiTF333310

Family and domain databases

InterProiView protein in InterPro
IPR033582 TMEM79
PANTHERiPTHR31004 PTHR31004, 1 hit

Sequencei

Sequence statusi: Complete.

Q9BSE2-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:394
Mass (Da):43,520
Last modified:June 1, 2001 - v1
Checksum:iA114D3D610020E4C
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028815147V → M Polymorphism that 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
CCDSiCCDS1138.1
RefSeqiNP_115699.1, NM_032323.2
UniGeneiHs.347408

Genome annotation databases

EnsembliENST00000295694; ENSP00000295694; ENSG00000163472
ENST00000405535; ENSP00000384748; ENSG00000163472
GeneIDi84283
KEGGihsa:84283
UCSCiuc009wrw.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTMM79_HUMAN
AccessioniPrimary (citable) accession number: Q9BSE2
Secondary accession number(s): B2RE22, D3DVB8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: June 1, 2001
Last modified: March 28, 2018
This is version 115 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome
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Main funding by: National Institutes of Health