UniProtKB - Q9BSE2 (TMM79_HUMAN)

BLAST

>sp|Q9BSE2|TMM79_HUMAN Transmembrane protein 79 OS=Homo sapiens OX=9606 GN=TMEM79 PE=1 SV=1
MTEQETLALLEVKRSDSPEKSSPQALVPNGRQPEGEGGAESPGAESLRVGSSAGSPTAIE
GAEDGLDSTVSEAATLPWGTGPQPSAPFPDPPGWRDIEPEPPESEPLTKLEELPEDDANL
LPEKAARAFVPIDLQCIERQPQEDLIVRCEAGEGECRTFMPPRVTHPDPTERKWAEAVVR
PPGCSCGGCGSCGDREWLRAVASVGAALILFPCLLYGAYAFLPFDVPRLPTMSSRLIYTL
RCGVFATFPIVLGILVYGLSLLCFSALRPFGEPRREVEIHRRYVAQSVQLFILYFFNLAV
LSTYLPQDTLKLLPLLTGLFAVSRLIYWLTFAVGRSFRGFGYGLTFLPLLSMLMWNLYYM
FVVEPERMLTATESRLDYPDHARSASDYRPRPWG

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Entry version 119 (12 Sep 2018)
Sequence version 1 (01 Jun 2001)
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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
Inferred from physical interactionⁱ
- 21516116
- 25416956

View the complete GO annotation on QuickGO ...

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

View the complete GO annotation on QuickGO ...

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Transmembrane protein 79 Alternative name(s): Mattrin
Gene namesⁱ	Name:TMEM79 Synonyms:MATT
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 1

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000163472.18
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:28196 TMEM79
MIMⁱ	615531 gene
neXtProtⁱ	NX_Q9BSE2

Topology

Feature key	Position(s)	DescriptionActions	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, 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

DisGeNET More...DisGeNETⁱ	84283
Open Targets More...OpenTargetsⁱ	ENSG00000163472
PharmGKBⁱ	PA143485632

Polymorphism and mutation 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

MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9BSE2
PaxDbⁱ	Q9BSE2
PeptideAtlas More...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 128 organ(s), highest expression level in esophagus mucosa
CleanExⁱ	HS_TMEM79
ExpressionAtlasⁱ	Q9BSE2 baseline and differential
Genevisibleⁱ	Q9BSE2 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA055214

HPAⁱ

HPA055214

Interactionⁱ

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
itself		4	EBI-8649725,EBI-8649725
ABO	B0B1U2	3	EBI-8649725,EBI-10175342
CLEC7A	Q9BXN2	3	EBI-8649725,EBI-3939278
PLP2	Q04941	3	EBI-8649725,EBI-608347
RNF8	O76064	7	EBI-8649725,EBI-373337
RPRM	Q9NS64	5	EBI-8649725,EBI-1052363
SEC22A	Q96IW7	5	EBI-8649725,EBI-8652744
SERP1	Q9Y6X1	3	EBI-8649725,EBI-10329948
SFTPC	P11686	12	EBI-8649725,EBI-10197617
SFTPC	P11686-2	3	EBI-8649725,EBI-16435005
SLN	O00631	3	EBI-8649725,EBI-10180786
TEX264	Q9Y6I9	5	EBI-8649725,EBI-10329860
TMEM100	Q9NV29	3	EBI-8649725,EBI-8644968
TMPRSS4	Q9NRS4	3	EBI-8649725,EBI-10313040
TMPRSS4	Q9NRS4-3	3	EBI-8649725,EBI-10312990
TNMD	Q9H2S6	3	EBI-8649725,EBI-10306119

GO - Molecular functionⁱ

identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- 21516116
- 25416956

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	124010, 20 interactors
IntActⁱ	Q9BSE2, 36 interactors
Molecular INTeraction database More...MINTⁱ	Q9BSE2

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9BSE2
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	ENOG410IE7M Eukaryota ENOG4111NK6 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000002390
HOGENOMⁱ	HOG000059668
HOVERGENⁱ	HBG075003
InParanoidⁱ	Q9BSE2
OMAⁱ	ECKWAEA
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0AH2
PhylomeDBⁱ	Q9BSE2
TreeFamⁱ	TF333310

Family and domain databases

InterProⁱ	View protein in InterPro IPR033582 TMEM79
PANTHERⁱ	PTHR31004 PTHR31004, 1 hit

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show all Align All

Q9BSE2-1 [UniParc]FASTA Add 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

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

Q5SZW9	Q5SZW9_HUMAN	Transmembrane protein 79 Transmembrane protein 79	TMEM79	132	Annotation score:
Q5SZX3	Q5SZX3_HUMAN	Transmembrane protein 79 Transmembrane protein 79	TMEM79	175	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_028815	147	V → 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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS1138.1
NCBI Reference Sequences More...RefSeqⁱ	NP_115699.1, NM_032323.2
UniGeneⁱ	Hs.347408

Genome annotation databases

Ensemblⁱ	ENST00000295694; ENSP00000295694; ENSG00000163472 ENST00000405535; ENSP00000384748; ENSG00000163472
GeneIDⁱ	84283
KEGGⁱ	hsa:84283
UCSC genome browser More...UCSCⁱ	uc009wrw.3 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9BSE2	Transmembrane protein 79		MACNE		394	UniRef90_Q9BSE2
Transmembrane protein 79 (Fragment)		MACMU		181
Uncharacterized protein		MANLE		394
Uncharacterized protein		RHIBE		391
Uncharacterized protein		RHIRO		383
+7

Protein	Similar proteins		Species	Score	Length	Source
Q9BSE2	Transmembrane protein 79		BOVIN		395	UniRef50_Q9BSE2
Transmembrane protein 79		RAT		391
Transmembrane protein 79		MOUSE		391
Uncharacterized protein		MANLE		394
Transmembrane protein 79		MACNE		394
+126

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
UniGeneⁱ	Hs.347408

3D structure databases

ProteinModelPortalⁱ	Q9BSE2
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	124010, 20 interactors
IntActⁱ	Q9BSE2, 36 interactors
MINTⁱ	Q9BSE2

PTM databases

iPTMnetⁱ	Q9BSE2
PhosphoSitePlusⁱ	Q9BSE2

Polymorphism and mutation databases

BioMutaⁱ	TMEM79
DMDMⁱ	74752301

Proteomic databases

MaxQBⁱ	Q9BSE2
PaxDbⁱ	Q9BSE2
PeptideAtlasⁱ	Q9BSE2
PRIDEⁱ	Q9BSE2
ProteomicsDBⁱ	78880

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	84283
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000295694; ENSP00000295694; ENSG00000163472 ENST00000405535; ENSP00000384748; ENSG00000163472
GeneIDⁱ	84283
KEGGⁱ	hsa:84283
UCSCⁱ	uc009wrw.3 human

Organism-specific databases

CTDⁱ	84283
DisGeNETⁱ	84283
EuPathDBⁱ	HostDB:ENSG00000163472.18
GeneCardsⁱ	TMEM79
HGNCⁱ	HGNC:28196 TMEM79
HPAⁱ	HPA055214
MIMⁱ	615531 gene
neXtProtⁱ	NX_Q9BSE2
OpenTargetsⁱ	ENSG00000163472
PharmGKBⁱ	PA143485632
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IE7M Eukaryota ENOG4111NK6 LUCA
GeneTreeⁱ	ENSGT00390000002390
HOGENOMⁱ	HOG000059668
HOVERGENⁱ	HBG075003
InParanoidⁱ	Q9BSE2
OMAⁱ	ECKWAEA
OrthoDBⁱ	EOG091G0AH2
PhylomeDBⁱ	Q9BSE2
TreeFamⁱ	TF333310

Miscellaneous databases

GenomeRNAiⁱ	84283
Protein Ontology More...PROⁱ	PR:Q9BSE2
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000163472 Expressed in 128 organ(s), highest expression level in esophagus mucosa
CleanExⁱ	HS_TMEM79
ExpressionAtlasⁱ	Q9BSE2 baseline and differential
Genevisibleⁱ	Q9BSE2 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR033582 TMEM79
PANTHERⁱ	PTHR31004 PTHR31004, 1 hit
ProtoNetⁱ	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:	September 12, 2018
	This is version 119 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

Complete proteome, Reference proteome

Documents

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

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q9BSE2 (TMM79_HUMAN)

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Transmembrane protein 79

TMEM79

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Golgi apparatus

Lysosome

Other locations

Golgi apparatus

Lysosome

Other locations

Topology

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ