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Protein

Transmembrane protein 79

Gene

TMEM79

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 - Biological processi

Complete GO annotation...

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

HGNCiHGNC:28196. TMEM79.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 203203CytoplasmicSequence analysisAdd
BLAST
Transmembranei204 – 22421HelicalSequence analysisAdd
BLAST
Topological domaini225 – 24319ExtracellularSequence analysisAdd
BLAST
Transmembranei244 – 26421HelicalSequence analysisAdd
BLAST
Topological domaini265 – 28218CytoplasmicSequence analysisAdd
BLAST
Transmembranei283 – 30321HelicalSequence analysisAdd
BLAST
Topological domaini304 – 3129ExtracellularSequence analysis
Transmembranei313 – 33321HelicalSequence analysisAdd
BLAST
Topological domaini334 – 3429CytoplasmicSequence analysis
Transmembranei343 – 36321HelicalSequence analysisAdd
BLAST
Topological domaini364 – 39431ExtracellularSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

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.

Organism-specific databases

PharmGKBiPA143485632.

Polymorphism and mutation databases

BioMutaiTMEM79.
DMDMi74752301.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 394394Transmembrane protein 79PRO_0000254118Add
BLAST

Proteomic databases

MaxQBiQ9BSE2.
PaxDbiQ9BSE2.
PeptideAtlasiQ9BSE2.
PRIDEiQ9BSE2.

PTM databases

iPTMnetiQ9BSE2.
PhosphoSiteiQ9BSE2.

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

WithEntry#Exp.IntActNotes
ABOB0B1U23EBI-8649725,EBI-10175342
CLEC7AQ9BXN23EBI-8649725,EBI-3939278
PLP2Q049413EBI-8649725,EBI-608347
RNF8O760643EBI-8649725,EBI-373337
RPRMQ9NS643EBI-8649725,EBI-1052363
SEC22AQ96IW73EBI-8649725,EBI-8652744
SERP1Q9Y6X13EBI-8649725,EBI-10329948
SFTPCP116863EBI-8649725,EBI-10197617
SLNO006313EBI-8649725,EBI-10180786
TEX264Q9Y6I93EBI-8649725,EBI-10329860
TMEM100Q9NV293EBI-8649725,EBI-8644968
TMPRSS4Q9NRS43EBI-8649725,EBI-10313040
TMPRSS4Q9NRS4-33EBI-8649725,EBI-10312990
TNMDQ9H2S63EBI-8649725,EBI-10306119

Protein-protein interaction databases

BioGridi124010. 17 interactions.
IntActiQ9BSE2. 13 interactions.
STRINGi9606.ENSP00000295694.

Structurei

3D structure databases

ProteinModelPortaliQ9BSE2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IE7M. Eukaryota.
ENOG4111NK6. LUCA.
GeneTreeiENSGT00390000002390.
HOGENOMiHOG000059668.
HOVERGENiHBG075003.
InParanoidiQ9BSE2.
OMAiMSSRLVY.
OrthoDBiEOG091G0AH2.
PhylomeDBiQ9BSE2.
TreeFamiTF333310.

Family and domain databases

InterProiIPR033582. TMEM79.
[Graphical view]
PANTHERiPTHR31004:SF1. PTHR31004:SF1. 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti147 – 1471V → M Polymorphism that may be associated with atopic dermatitis. 1 Publication
Corresponds to variant rs6684514 [ dbSNP | Ensembl ].
VAR_028815

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK315767 mRNA. Translation: BAG38119.1.
AL589685 Genomic DNA. Translation: CAI14162.1.
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK315767 mRNA. Translation: BAG38119.1.
AL589685 Genomic DNA. Translation: CAI14162.1.
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.

3D structure databases

ProteinModelPortaliQ9BSE2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124010. 17 interactions.
IntActiQ9BSE2. 13 interactions.
STRINGi9606.ENSP00000295694.

PTM databases

iPTMnetiQ9BSE2.
PhosphoSiteiQ9BSE2.

Polymorphism and mutation databases

BioMutaiTMEM79.
DMDMi74752301.

Proteomic databases

MaxQBiQ9BSE2.
PaxDbiQ9BSE2.
PeptideAtlasiQ9BSE2.
PRIDEiQ9BSE2.

Protocols and materials databases

DNASUi84283.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi84283.
GeneCardsiTMEM79.
HGNCiHGNC:28196. TMEM79.
HPAiHPA055214.
MIMi615531. gene.
neXtProtiNX_Q9BSE2.
PharmGKBiPA143485632.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE7M. Eukaryota.
ENOG4111NK6. LUCA.
GeneTreeiENSGT00390000002390.
HOGENOMiHOG000059668.
HOVERGENiHBG075003.
InParanoidiQ9BSE2.
OMAiMSSRLVY.
OrthoDBiEOG091G0AH2.
PhylomeDBiQ9BSE2.
TreeFamiTF333310.

Miscellaneous databases

GenomeRNAii84283.
PROiQ9BSE2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163472.
CleanExiHS_TMEM79.
ExpressionAtlasiQ9BSE2. baseline and differential.
GenevisibleiQ9BSE2. HS.

Family and domain databases

InterProiIPR033582. TMEM79.
[Graphical view]
PANTHERiPTHR31004:SF1. PTHR31004:SF1. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiTMM79_HUMAN
AccessioniPrimary (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: September 7, 2016
This is version 101 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.