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UniProtKB - Q02413 (DSG1_HUMAN)

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Protein

Desmoglein-1

Gene

DSG1

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

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: UniProtKB
  • gamma-catenin binding Source: BHF-UCL
  • toxic substance binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules Source: UniProtKB
  • cell-cell adhesion Source: UniProtKB
  • 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
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCell adhesion
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-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-1
Alternative name(s):
Cadherin family member 4
Desmosomal glycoprotein 1
Short name:
DG1
Short name:
DGI
Pemphigus foliaceus antigen
Gene namesi
Name:DSG1
Synonyms:CDHF4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000134760.5
HGNCiHGNC:3048 DSG1
MIMi125670 gene
neXtProtiNX_Q02413

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 domaini50 – 548ExtracellularSequence analysisAdd BLAST499
Transmembranei549 – 569HelicalSequence analysisAdd BLAST21
Topological domaini570 – 1049CytoplasmicSequence analysisAdd BLAST480

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Palmoplantar keratoderma 1, striate, focal, or diffuse (PPKS1)1 Publication
The disease is caused by mutations 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.
See also OMIM:148700
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE (EPKHE)1 Publication
The disease is caused by mutations 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.
See also OMIM:615508

Keywords - Diseasei

Hypotrichosis, Palmoplantar keratoderma

Organism-specific databases

DisGeNETi1828
MalaCardsiDSG1
MIMi148700 phenotype
615508 phenotype
OpenTargetsiENSG00000134760
Orphaneti369999 Diffuse palmoplantar keratoderma with painful fissures
370002 Focal palmoplantar keratoderma with joint keratoses
50942 Keratosis palmoplantaris striata
369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome
PharmGKBiPA27501

Polymorphism and mutation databases

BioMutaiDSG1
DMDMi292495005

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
PropeptideiPRO_000000383724 – 49Sequence analysisAdd BLAST26
ChainiPRO_000000383850 – 1049Desmoglein-1Add BLAST1000

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi36N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi110N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi180N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei579PhosphoserineCombined sources1

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ02413
MaxQBiQ02413
PaxDbiQ02413
PeptideAtlasiQ02413
PRIDEiQ02413
ProteomicsDBi58089

PTM databases

iPTMnetiQ02413
PhosphoSitePlusiQ02413
SwissPalmiQ02413

Miscellaneous databases

PMAP-CutDBiQ02413

Expressioni

Tissue specificityi

Epidermis, tongue, tonsil and esophagus.

Gene expression databases

BgeeiENSG00000134760
CleanExiHS_DSG1
GenevisibleiQ02413 HS

Organism-specific databases

HPAiCAB009394
HPA022128

Interactioni

Subunit structurei

Binds to JUP/plakoglobin.

GO - Molecular functioni

  • gamma-catenin binding Source: BHF-UCL
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi108162, 41 interactors
ELMiQ02413
IntActiQ02413, 23 interactors
STRINGi9606.ENSP00000257192

Structurei

3D structure databases

ProteinModelPortaliQ02413
SMRiQ02413
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini50 – 158Cadherin 1PROSITE-ProRule annotationAdd BLAST109
Domaini159 – 270Cadherin 2PROSITE-ProRule annotationAdd BLAST112
Domaini271 – 385Cadherin 3PROSITE-ProRule annotationAdd BLAST115
Domaini386 – 497Cadherin 4PROSITE-ProRule annotationAdd BLAST112
Repeati813 – 839Desmoglein repeat 1Add BLAST27
Repeati840 – 869Desmoglein repeat 2Add BLAST30
Repeati870 – 899Desmoglein repeat 3Add BLAST30
Repeati900 – 927Desmoglein repeat 4Add BLAST28
Repeati928 – 956Desmoglein repeat 5Add BLAST29

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi969 – 1019Gly/Ser-richAdd BLAST51

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 helix

Phylogenomic databases

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00910000144083
HOGENOMiHOG000236266
HOVERGENiHBG005532
InParanoidiQ02413
KOiK07596
OMAiEGGLNMN
OrthoDBiEOG091G01PF
PhylomeDBiQ02413
TreeFamiTF331809

Family and domain databases

Gene3Di4.10.900.10, 1 hit
InterProiView protein in InterPro
IPR002126 Cadherin
IPR015919 Cadherin-like
IPR020894 Cadherin_CS
IPR000233 Cadherin_cytoplasmic-dom
IPR027397 Catenin_binding_dom_sf
IPR009123 Desmoglein
IPR009122 Desmosomal_cadherin
PANTHERiPTHR24025 PTHR24025, 1 hit
PfamiView protein in Pfam
PF00028 Cadherin, 3 hits
PF01049 Cadherin_C, 1 hit
PRINTSiPR00205 CADHERIN
PR01818 DESMOCADHERN
PR01819 DESMOGLEIN
SMARTiView protein in SMART
SM00112 CA, 4 hits
SUPFAMiSSF49313 SSF49313, 4 hits
PROSITEiView protein in PROSITE
PS00232 CADHERIN_1, 2 hits
PS50268 CADHERIN_2, 4 hits

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q02413-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:1,049
Mass (Da):113,748
Last modified:March 23, 2010 - v2
Checksum:iFEA471244B9D67AE
GO
Isoform 2 (identifier: Q02413-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-641: Missing.

Note: No experimental confirmation available.
Show »
Length:408
Mass (Da):42,619
Checksum:iA910C8D97368B725
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06024811M → V2 PublicationsCorresponds to variant dbSNP:rs1426310EnsemblClinVar.1
Natural variantiVAR_055573395T → S. Corresponds to variant dbSNP:rs16961655Ensembl.1
Natural variantiVAR_024385493N → T. Corresponds to variant dbSNP:rs8091003Ensembl.1
Natural variantiVAR_024386498T → N. Corresponds to variant dbSNP:rs8091117Ensembl.1
Natural variantiVAR_055574528Y → S. Corresponds to variant dbSNP:rs16961689Ensembl.1
Natural variantiVAR_055575538D → N. Corresponds to variant dbSNP:rs34302455Ensembl.1
Natural variantiVAR_055576665M → I. Corresponds to variant dbSNP:rs35360042Ensembl.1
Natural variantiVAR_055577821L → Q. Corresponds to variant dbSNP:rs16961692Ensembl.1
Natural variantiVAR_060249828D → N. Corresponds to variant dbSNP:rs3752094Ensembl.1
Natural variantiVAR_020364841Y → F. Corresponds to variant dbSNP:rs3752095EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0559301 – 641Missing in isoform 2. 1 PublicationAdd BLAST641

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.
CCDSiCCDS11896.1 [Q02413-1]
PIRiS16906 IJHUG1
RefSeqiNP_001933.2, NM_001942.3 [Q02413-1]
UniGeneiHs.2633

Genome annotation databases

EnsembliENST00000257192; ENSP00000257192; ENSG00000134760 [Q02413-1]
ENST00000462981; ENSP00000462666; ENSG00000134760 [Q02413-2]
GeneIDi1828
KEGGihsa:1828
UCSCiuc002kwp.4 human [Q02413-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDSG1_HUMAN
AccessioniPrimary (citable) accession number: Q02413
Secondary accession number(s): B7Z845
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: March 23, 2010
Last modified: July 18, 2018
This is version 185 of the entry and version 2 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

Documents

  1. Human chromosome 18
    Human chromosome 18: 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

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