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Protein

Desmoglein-1

Gene

DSG1

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

GO - Biological processi

  • calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules Source: UniProtKB
  • cell-cell junction assembly Source: UniProtKB
  • homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
  • maternal process involved in female pregnancy Source: Ensembl
  • protein stabilization Source: BHF-UCL
  • response to progesterone Source: Ensembl
  • single organismal cell-cell adhesion Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134760-MONOMER.
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:3048. DSG1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini50 – 548ExtracellularSequence analysisAdd BLAST499
Transmembranei549 – 569HelicalSequence analysisAdd BLAST21
Topological domaini570 – 1049CytoplasmicSequence analysisAdd BLAST480

GO - Cellular componenti

  • apical plasma membrane Source: Ensembl
  • cytoplasmic side of plasma membrane Source: BHF-UCL
  • cytosol Source: Reactome
  • desmosome Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • extracellular matrix Source: BHF-UCL
  • integral component of membrane Source: UniProtKB-KW
  • lateral plasma membrane Source: Ensembl
  • plasma membrane Source: Reactome
Complete GO annotation...

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...)Sequence analysis1
Glycosylationi110N-linked (GlcNAc...)1 Publication1
Glycosylationi180N-linked (GlcNAc...)Sequence analysis1
Modified residuei579PhosphoserineCombined sources1

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ02413.
MaxQBiQ02413.
PaxDbiQ02413.
PeptideAtlasiQ02413.
PRIDEiQ02413.

PTM databases

iPTMnetiQ02413.
PhosphoSitePlusiQ02413.
SwissPalmiQ02413.

Miscellaneous databases

PMAP-CutDBQ02413.

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

Protein-protein interaction databases

BioGridi108162. 35 interactors.
IntActiQ02413. 18 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

Sequence similaritiesi

Contains 4 cadherin domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00760000118906.
HOGENOMiHOG000236266.
HOVERGENiHBG005532.
InParanoidiQ02413.
KOiK07596.
OMAiVRYVMGN.
OrthoDBiEOG091G01PF.
PhylomeDBiQ02413.
TreeFamiTF331809.

Family and domain databases

Gene3Di2.60.40.60. 4 hits.
4.10.900.10. 1 hit.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR000233. Cadherin_cytoplasmic-dom.
IPR027397. Catenin_binding_dom.
IPR009123. Desmoglein.
IPR009122. Desmosomal_cadherin.
[Graphical view]
PANTHERiPTHR24025. PTHR24025. 2 hits.
PfamiPF00028. Cadherin. 3 hits.
PF01049. Cadherin_C. 1 hit.
[Graphical view]
PRINTSiPR00205. CADHERIN.
PR01818. DESMOCADHERN.
PR01819. DESMOGLEIN.
SMARTiSM00112. CA. 4 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 4 hits.
PROSITEiPS00232. CADHERIN_1. 2 hits.
PS50268. CADHERIN_2. 4 hits.
[Graphical view]

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 → V.2 PublicationsCorresponds to variant rs1426310dbSNPEnsembl.1
Natural variantiVAR_055573395T → S.Corresponds to variant rs16961655dbSNPEnsembl.1
Natural variantiVAR_024385493N → T.Corresponds to variant rs8091003dbSNPEnsembl.1
Natural variantiVAR_024386498T → N.Corresponds to variant rs8091117dbSNPEnsembl.1
Natural variantiVAR_055574528Y → S.Corresponds to variant rs16961689dbSNPEnsembl.1
Natural variantiVAR_055575538D → N.Corresponds to variant rs34302455dbSNPEnsembl.1
Natural variantiVAR_055576665M → I.Corresponds to variant rs35360042dbSNPEnsembl.1
Natural variantiVAR_055577821L → Q.Corresponds to variant rs16961692dbSNPEnsembl.1
Natural variantiVAR_060249828D → N.Corresponds to variant rs3752094dbSNPEnsembl.1
Natural variantiVAR_020364841Y → F.Corresponds to variant rs3752095dbSNPEnsembl.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

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

3D structure databases

ProteinModelPortaliQ02413.
SMRiQ02413.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108162. 35 interactors.
IntActiQ02413. 18 interactors.
STRINGi9606.ENSP00000257192.

PTM databases

iPTMnetiQ02413.
PhosphoSitePlusiQ02413.
SwissPalmiQ02413.

Polymorphism and mutation databases

BioMutaiDSG1.
DMDMi292495005.

Proteomic databases

EPDiQ02413.
MaxQBiQ02413.
PaxDbiQ02413.
PeptideAtlasiQ02413.
PRIDEiQ02413.

Protocols and materials databases

DNASUi1828.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi1828.
DisGeNETi1828.
GeneCardsiDSG1.
H-InvDBHIX0039708.
HGNCiHGNC:3048. DSG1.
HPAiCAB009394.
HPA022128.
MalaCardsiDSG1.
MIMi125670. gene.
148700. phenotype.
615508. phenotype.
neXtProtiNX_Q02413.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00760000118906.
HOGENOMiHOG000236266.
HOVERGENiHBG005532.
InParanoidiQ02413.
KOiK07596.
OMAiVRYVMGN.
OrthoDBiEOG091G01PF.
PhylomeDBiQ02413.
TreeFamiTF331809.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134760-MONOMER.
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.

Miscellaneous databases

GeneWikiiDesmoglein_1.
GenomeRNAii1828.
PMAP-CutDBQ02413.
PROiQ02413.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134760.
CleanExiHS_DSG1.
GenevisibleiQ02413. HS.

Family and domain databases

Gene3Di2.60.40.60. 4 hits.
4.10.900.10. 1 hit.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR000233. Cadherin_cytoplasmic-dom.
IPR027397. Catenin_binding_dom.
IPR009123. Desmoglein.
IPR009122. Desmosomal_cadherin.
[Graphical view]
PANTHERiPTHR24025. PTHR24025. 2 hits.
PfamiPF00028. Cadherin. 3 hits.
PF01049. Cadherin_C. 1 hit.
[Graphical view]
PRINTSiPR00205. CADHERIN.
PR01818. DESMOCADHERN.
PR01819. DESMOGLEIN.
SMARTiSM00112. CA. 4 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 4 hits.
PROSITEiPS00232. CADHERIN_1. 2 hits.
PS50268. CADHERIN_2. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDSG1_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 170 of the entry and version 2 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 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
  5. SIMILARITY comments
    Index of protein domains and families

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.