UniProtKB - Q02413 (DSG1_HUMAN)
Protein
Desmoglein-1
Gene
DSG1
Organism
Homo sapiens (Human)
Status
Functioni
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.
GO - Molecular functioni
- calcium ion binding Source: GO_Central
- gamma-catenin binding Source: BHF-UCL
- toxic substance binding Source: UniProtKB
GO - Biological processi
- calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules Source: UniProtKB
- cell-cell adhesion Source: GO_Central
- cell-cell junction assembly Source: UniProtKB
- cornification Source: Reactome
- homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
- keratinization Source: Reactome
- maternal process involved in female pregnancy Source: Ensembl
- neutrophil degranulation Source: Reactome
- protein stabilization Source: BHF-UCL
- response to progesterone Source: Ensembl
Keywordsi
Biological process | Cell adhesion |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q02413 |
Reactomei | R-HSA-351906, Apoptotic cleavage of cell adhesion proteins R-HSA-6798695, Neutrophil degranulation R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope |
Names & Taxonomyi
Protein namesi | Recommended name: Desmoglein-1Alternative name(s): Cadherin family member 4 Desmosomal glycoprotein 1 Short name: DG1 Short name: DGI Pemphigus foliaceus antigen |
Gene namesi | Name:DSG1 Synonyms:CDHF4 |
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:3048, DSG1 |
MIMi | 125670, gene |
neXtProti | NX_Q02413 |
VEuPathDBi | HostDB:ENSG00000134760.5 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; Single-pass type I membrane protein By similarity
Other locations
Cytosol
- cytosol Source: Reactome
Plasma Membrane
- apical plasma membrane Source: Ensembl
- cornified envelope Source: Reactome
- cytoplasmic side of plasma membrane Source: BHF-UCL
- lateral plasma membrane Source: Ensembl
- plasma membrane Source: Reactome
Other locations
- desmosome Source: GO_Central
- ficolin-1-rich granule membrane Source: Reactome
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 50 – 548 | ExtracellularSequence analysisAdd BLAST | 499 | |
Transmembranei | 549 – 569 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 570 – 1049 | CytoplasmicSequence analysisAdd BLAST | 480 |
Keywords - Cellular componenti
Cell junction, Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Palmoplantar keratoderma 1, striate, focal, or diffuse (PPKS1)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA dermatological disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger.
Related information in OMIMErythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE (EPKHE)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by severe dermatitis, multiple allergies and metabolic wasting. Clinical features include erythroderma, yellowish papules and plaques arranged at the periphery of the palms, along the fingers and over weight-bearing areas of the feet, skin erosions and scaling, and hypotrichosis. Additionally, patients manifest severe food allergies, elevated immunoglobulin E (IgE) levels and recurrent infections with marked metabolic wasting.
Related information in OMIMKeywords - Diseasei
Hypotrichosis, Palmoplantar keratodermaOrganism-specific databases
DisGeNETi | 1828 |
MalaCardsi | DSG1 |
MIMi | 148700, phenotype 615508, phenotype |
OpenTargetsi | ENSG00000134760 |
Orphaneti | 369999, Diffuse palmoplantar keratoderma with painful fissures 370002, Focal palmoplantar keratoderma with joint keratoses 369992, Severe dermatitis-multiple allergies-metabolic wasting syndrome 50942, Striate palmoplantar keratoderma |
PharmGKBi | PA27501 |
Miscellaneous databases
Pharosi | Q02413, Tbio |
Genetic variation databases
BioMutai | DSG1 |
DMDMi | 292495005 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 23 | Sequence analysisAdd BLAST | 23 | |
PropeptideiPRO_0000003837 | 24 – 49 | Sequence analysisAdd BLAST | 26 | |
ChainiPRO_0000003838 | 50 – 1049 | Desmoglein-1Add BLAST | 1000 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 36 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 110 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 180 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 579 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Cleavage on pair of basic residues, Glycoprotein, PhosphoproteinProteomic databases
EPDi | Q02413 |
jPOSTi | Q02413 |
MassIVEi | Q02413 |
MaxQBi | Q02413 |
PaxDbi | Q02413 |
PeptideAtlasi | Q02413 |
PRIDEi | Q02413 |
ProteomicsDBi | 58089 [Q02413-1] |
PTM databases
GlyGeni | Q02413, 3 sites |
iPTMneti | Q02413 |
PhosphoSitePlusi | Q02413 |
SwissPalmi | Q02413 |
Expressioni
Tissue specificityi
Epidermis, tongue, tonsil and esophagus.
Gene expression databases
Bgeei | ENSG00000134760, Expressed in zone of skin and 102 other tissues |
Genevisiblei | Q02413, HS |
Organism-specific databases
HPAi | ENSG00000134760, Tissue enhanced (skin, tongue) |
Interactioni
Subunit structurei
Binds to JUP/plakoglobin.
(Microbial infection) Interacts with Staphylococcus aureus protein SdrD; this interaction increases S. aureus adherence to keratinocytes.
1 PublicationBinary interactionsi
Hide detailsQ02413
With | #Exp. | IntAct |
---|---|---|
DSC1 [Q08554] | 2 | EBI-1045757,EBI-2371346 |
DSP [P15924] | 2 | EBI-1045757,EBI-355041 |
JUP [P14923] | 2 | EBI-1045757,EBI-702484 |
PKP1 [Q13835] | 2 | EBI-1045757,EBI-2513407 |
GO - Molecular functioni
- gamma-catenin binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 108162, 79 interactors |
ELMi | Q02413 |
IntActi | Q02413, 55 interactors |
STRINGi | 9606.ENSP00000257192 |
Miscellaneous databases
RNActi | Q02413, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 50 – 158 | Cadherin 1PROSITE-ProRule annotationAdd BLAST | 109 | |
Domaini | 159 – 270 | Cadherin 2PROSITE-ProRule annotationAdd BLAST | 112 | |
Domaini | 271 – 385 | Cadherin 3PROSITE-ProRule annotationAdd BLAST | 115 | |
Domaini | 386 – 497 | Cadherin 4PROSITE-ProRule annotationAdd BLAST | 112 | |
Repeati | 813 – 839 | Desmoglein repeat 1Add BLAST | 27 | |
Repeati | 840 – 869 | Desmoglein repeat 2Add BLAST | 30 | |
Repeati | 870 – 899 | Desmoglein repeat 3Add BLAST | 30 | |
Repeati | 900 – 927 | Desmoglein repeat 4Add BLAST | 28 | |
Repeati | 928 – 956 | Desmoglein repeat 5Add BLAST | 29 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 969 – 1019 | Gly/Ser-richAdd BLAST | 51 |
Domaini
Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.By similarity
Keywords - Domaini
Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3594, Eukaryota |
GeneTreei | ENSGT00950000182765 |
HOGENOMi | CLU_005284_0_0_1 |
InParanoidi | Q02413 |
OMAi | MDWRFFR |
OrthoDBi | 250139at2759 |
PhylomeDBi | Q02413 |
TreeFami | TF331809 |
Family and domain databases
DisProti | DP01476 |
Gene3Di | 4.10.900.10, 1 hit |
InterProi | View protein in InterPro IPR002126, Cadherin-like_dom IPR015919, Cadherin-like_sf IPR020894, Cadherin_CS IPR000233, Cadherin_cytoplasmic-dom IPR027397, Catenin-bd_sf IPR009123, Desmoglein IPR009122, Desmosomal_cadherin |
Pfami | View protein in Pfam PF00028, Cadherin, 3 hits PF01049, Cadherin_C, 1 hit |
PRINTSi | PR00205, CADHERIN PR01818, DESMOCADHERN PR01819, DESMOGLEIN |
SMARTi | View protein in SMART SM00112, CA, 4 hits |
SUPFAMi | SSF49313, SSF49313, 4 hits |
PROSITEi | View protein in PROSITE PS00232, CADHERIN_1, 2 hits PS50268, CADHERIN_2, 4 hits |
s (2)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q02413-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDWSFFRVVA MLFIFLVVVE VNSEFRIQVR DYNTKNGTIK WHSIRRQKRE
60 70 80 90 100
WIKFAAACRE GEDNSKRNPI AKIHSDCAAN QQVTYRISGV GIDQPPYGIF
110 120 130 140 150
VINQKTGEIN ITSIVDREVT PFFIIYCRAL NSMGQDLERP LELRVRVLDI
160 170 180 190 200
NDNPPVFSMA TFAGQIEENS NANTLVMILN ATDADEPNNL NSKIAFKIIR
210 220 230 240 250
QEPSDSPMFI INRNTGEIRT MNNFLDREQY GQYALAVRGS DRDGGADGMS
260 270 280 290 300
AECECNIKIL DVNDNIPYME QSSYTIEIQE NTLNSNLLEI RVIDLDEEFS
310 320 330 340 350
ANWMAVIFFI SGNEGNWFEI EMNERTNVGI LKVVKPLDYE AMQSLQLSIG
360 370 380 390 400
VRNKAEFHHS IMSQYKLKAS AISVTVLNVI EGPVFRPGSK TYVVTGNMGS
410 420 430 440 450
NDKVGDFVAT DLDTGRPSTT VRYVMGNNPA DLLAVDSRTG KLTLKNKVTK
460 470 480 490 500
EQYNMLGGKY QGTILSIDDN LQRTCTGTIN INIQSFGNDD RTNTEPNTKI
510 520 530 540 550
TTNTGRQEST SSTNYDTSTT STDSSQVYSS EPGNGAKDLL SDNVHFGPAG
560 570 580 590 600
IGLLIMGFLV LGLVPFLMIC CDCGGAPRSA AGFEPVPECS DGAIHSWAVE
610 620 630 640 650
GPQPEPRDIT TVIPQIPPDN ANIIECIDNS GVYTNEYGGR EMQDLGGGER
660 670 680 690 700
MTGFELTEGV KTSGMPEICQ EYSGTLRRNS MRECREGGLN MNFMESYFCQ
710 720 730 740 750
KAYAYADEDE GRPSNDCLLI YDIEGVGSPA GSVGCCSFIG EDLDDSFLDT
760 770 780 790 800
LGPKFKKLAD ISLGKESYPD LDPSWPPQST EPVCLPQETE PVVSGHPPIS
810 820 830 840 850
PHFGTTTVIS ESTYPSGPGV LHPKPILDPL GYGNVTVTES YTTSDTLKPS
860 870 880 890 900
VHVHDNRPAS NVVVTERVVG PISGADLHGM LEMPDLRDGS NVIVTERVIA
910 920 930 940 950
PSSSLPTSLT IHHPRESSNV VVTERVIQPT SGMIGSLSMH PELANAHNVI
960 970 980 990 1000
VTERVVSGAG VTGISGTTGI SGGIGSSGLV GTSMGAGSGA LSGAGISGGG
1010 1020 1030 1040
IGLSSLGGTA SIGHMRSSSD HHFNQTIGSA SPSTARSRIT KYSTVQYSK
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_060248 | 11 | M → V2 PublicationsCorresponds to variant dbSNP:rs1426310EnsemblClinVar. | 1 | |
Natural variantiVAR_055573 | 395 | T → S. Corresponds to variant dbSNP:rs16961655EnsemblClinVar. | 1 | |
Natural variantiVAR_024385 | 493 | N → T. Corresponds to variant dbSNP:rs8091003Ensembl. | 1 | |
Natural variantiVAR_024386 | 498 | T → N. Corresponds to variant dbSNP:rs8091117Ensembl. | 1 | |
Natural variantiVAR_055574 | 528 | Y → S. Corresponds to variant dbSNP:rs16961689Ensembl. | 1 | |
Natural variantiVAR_055575 | 538 | D → N. Corresponds to variant dbSNP:rs34302455Ensembl. | 1 | |
Natural variantiVAR_055576 | 665 | M → I. Corresponds to variant dbSNP:rs35360042EnsemblClinVar. | 1 | |
Natural variantiVAR_055577 | 821 | L → Q. Corresponds to variant dbSNP:rs16961692Ensembl. | 1 | |
Natural variantiVAR_060249 | 828 | D → N. Corresponds to variant dbSNP:rs3752094Ensembl. | 1 | |
Natural variantiVAR_020364 | 841 | Y → F. Corresponds to variant dbSNP:rs3752095EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055930 | 1 – 641 | Missing in isoform 2. 1 PublicationAdd BLAST | 641 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X56654 mRNA Translation: CAA39976.1 AF097935 mRNA Translation: AAC83817.1 AK302888 mRNA Translation: BAH13831.1 AC009717 Genomic DNA No translation available. |
CCDSi | CCDS11896.1 [Q02413-1] |
PIRi | S16906, IJHUG1 |
RefSeqi | NP_001933.2, NM_001942.3 [Q02413-1] |
Genome annotation databases
Ensembli | ENST00000257192; ENSP00000257192; ENSG00000134760 [Q02413-1] |
GeneIDi | 1828 |
KEGGi | hsa:1828 |
UCSCi | uc002kwp.4, human [Q02413-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X56654 mRNA Translation: CAA39976.1 AF097935 mRNA Translation: AAC83817.1 AK302888 mRNA Translation: BAH13831.1 AC009717 Genomic DNA No translation available. |
CCDSi | CCDS11896.1 [Q02413-1] |
PIRi | S16906, IJHUG1 |
RefSeqi | NP_001933.2, NM_001942.3 [Q02413-1] |
3D structure databases
SMRi | Q02413 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 108162, 79 interactors |
ELMi | Q02413 |
IntActi | Q02413, 55 interactors |
STRINGi | 9606.ENSP00000257192 |
PTM databases
GlyGeni | Q02413, 3 sites |
iPTMneti | Q02413 |
PhosphoSitePlusi | Q02413 |
SwissPalmi | Q02413 |
Genetic variation databases
BioMutai | DSG1 |
DMDMi | 292495005 |
Proteomic databases
EPDi | Q02413 |
jPOSTi | Q02413 |
MassIVEi | Q02413 |
MaxQBi | Q02413 |
PaxDbi | Q02413 |
PeptideAtlasi | Q02413 |
PRIDEi | Q02413 |
ProteomicsDBi | 58089 [Q02413-1] |
Protocols and materials databases
ABCDi | Q02413, 43 sequenced antibodies |
Antibodypediai | 3998, 776 antibodies |
DNASUi | 1828 |
Genome annotation databases
Ensembli | ENST00000257192; ENSP00000257192; ENSG00000134760 [Q02413-1] |
GeneIDi | 1828 |
KEGGi | hsa:1828 |
UCSCi | uc002kwp.4, human [Q02413-1] |
Organism-specific databases
CTDi | 1828 |
DisGeNETi | 1828 |
GeneCardsi | DSG1 |
HGNCi | HGNC:3048, DSG1 |
HPAi | ENSG00000134760, Tissue enhanced (skin, tongue) |
MalaCardsi | DSG1 |
MIMi | 125670, gene 148700, phenotype 615508, phenotype |
neXtProti | NX_Q02413 |
OpenTargetsi | ENSG00000134760 |
Orphaneti | 369999, Diffuse palmoplantar keratoderma with painful fissures 370002, Focal palmoplantar keratoderma with joint keratoses 369992, Severe dermatitis-multiple allergies-metabolic wasting syndrome 50942, Striate palmoplantar keratoderma |
PharmGKBi | PA27501 |
VEuPathDBi | HostDB:ENSG00000134760.5 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3594, Eukaryota |
GeneTreei | ENSGT00950000182765 |
HOGENOMi | CLU_005284_0_0_1 |
InParanoidi | Q02413 |
OMAi | MDWRFFR |
OrthoDBi | 250139at2759 |
PhylomeDBi | Q02413 |
TreeFami | TF331809 |
Enzyme and pathway databases
PathwayCommonsi | Q02413 |
Reactomei | R-HSA-351906, Apoptotic cleavage of cell adhesion proteins R-HSA-6798695, Neutrophil degranulation R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope |
Miscellaneous databases
BioGRID-ORCSi | 1828, 0 hits in 875 CRISPR screens |
ChiTaRSi | DSG1, human |
GeneWikii | Desmoglein_1 |
GenomeRNAii | 1828 |
Pharosi | Q02413, Tbio |
PROi | PR:Q02413 |
RNActi | Q02413, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000134760, Expressed in zone of skin and 102 other tissues |
Genevisiblei | Q02413, HS |
Family and domain databases
DisProti | DP01476 |
Gene3Di | 4.10.900.10, 1 hit |
InterProi | View protein in InterPro IPR002126, Cadherin-like_dom IPR015919, Cadherin-like_sf IPR020894, Cadherin_CS IPR000233, Cadherin_cytoplasmic-dom IPR027397, Catenin-bd_sf IPR009123, Desmoglein IPR009122, Desmosomal_cadherin |
Pfami | View protein in Pfam PF00028, Cadherin, 3 hits PF01049, Cadherin_C, 1 hit |
PRINTSi | PR00205, CADHERIN PR01818, DESMOCADHERN PR01819, DESMOGLEIN |
SMARTi | View protein in SMART SM00112, CA, 4 hits |
SUPFAMi | SSF49313, SSF49313, 4 hits |
PROSITEi | View protein in PROSITE PS00232, CADHERIN_1, 2 hits PS50268, CADHERIN_2, 4 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DSG1_HUMAN | |
Accessioni | Q02413Primary (citable) accession number: Q02413 Secondary accession number(s): B7Z845 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1993 |
Last sequence update: | March 23, 2010 | |
Last modified: | February 10, 2021 | |
This is version 205 of the entry and version 2 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 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 - Human chromosome 18
Human chromosome 18: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants