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Q02413 (DSG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 145. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Desmoglein-1
Alternative name(s):
Cadherin family member 4
Desmosomal glycoprotein 1
Short name=DG1
Short name=DGI
Pemphigus foliaceus antigen
Gene names
Name:DSG1
Synonyms:CDHF4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1049 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.

Subunit structure

Binds to JUP/plakoglobin. Ref.6

Subcellular location

Cell membrane; Single-pass type I membrane protein By similarity. Cell junctiondesmosome.

Tissue specificity

Epidermis, tongue, tonsil and esophagus.

Domain

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.

Involvement in disease

Palmoplantar keratoderma 1, striate, focal, or diffuse (PPKS1) [MIM:148700]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE (EPKHE) [MIM:615508]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities

Contains 4 cadherin domains.

Ontologies

Keywords
   Biological processCell adhesion
   Cellular componentCell junction
Cell membrane
Membrane
   Coding sequence diversityPolymorphism
   DiseaseHypotrichosis
Palmoplantar keratoderma
   DomainRepeat
Signal
Transmembrane
Transmembrane helix
   LigandCalcium
Metal-binding
   PTMCleavage on pair of basic residues
Glycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processapoptotic process

Traceable author statement. Source: Reactome

calcium-dependent cell-cell adhesion

Non-traceable author statement Ref.2. Source: UniProtKB

cell-cell junction assembly

Non-traceable author statement PubMed 12485422. Source: UniProtKB

cellular component disassembly involved in execution phase of apoptosis

Traceable author statement. Source: Reactome

homophilic cell adhesion

Inferred from electronic annotation. Source: InterPro

maternal process involved in female pregnancy

Inferred from electronic annotation. Source: Ensembl

protein stabilization

Inferred from direct assay PubMed 7983064. Source: BHF-UCL

response to progesterone

Inferred from electronic annotation. Source: Ensembl

single organismal cell-cell adhesion

Non-traceable author statement Ref.1. Source: UniProtKB

   Cellular_componentapical plasma membrane

Inferred from electronic annotation. Source: Ensembl

cytoplasmic side of plasma membrane

Inferred from direct assay PubMed 7983064. Source: BHF-UCL

cytosol

Traceable author statement. Source: Reactome

desmosome

Non-traceable author statement Ref.1. Source: UniProtKB

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

lateral plasma membrane

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functioncalcium ion binding

Non-traceable author statement Ref.2. Source: UniProtKB

gamma-catenin binding

Inferred from physical interaction PubMed 7983064. Source: BHF-UCL

toxic substance binding

Non-traceable author statement PubMed 12582396. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2323 Potential
Propeptide24 – 4926 Potential
PRO_0000003837
Chain50 – 10491000Desmoglein-1
PRO_0000003838

Regions

Topological domain50 – 548499Extracellular Potential
Transmembrane549 – 56921Helical; Potential
Topological domain570 – 1049480Cytoplasmic Potential
Domain50 – 158109Cadherin 1
Domain159 – 270112Cadherin 2
Domain271 – 385115Cadherin 3
Domain386 – 497112Cadherin 4
Repeat813 – 83927Desmoglein repeat 1
Repeat840 – 86930Desmoglein repeat 2
Repeat870 – 89930Desmoglein repeat 3
Repeat900 – 92728Desmoglein repeat 4
Repeat928 – 95629Desmoglein repeat 5
Compositional bias969 – 101951Gly/Ser-rich

Amino acid modifications

Modified residue5791Phosphoserine Ref.7
Glycosylation361N-linked (GlcNAc...) Potential
Glycosylation1101N-linked (GlcNAc...) Ref.5
Glycosylation1801N-linked (GlcNAc...) Potential

Natural variations

Natural variant111M → V. Ref.1 Ref.2
Corresponds to variant rs1426310 [ dbSNP | Ensembl ].
VAR_060248
Natural variant3951T → S.
Corresponds to variant rs16961655 [ dbSNP | Ensembl ].
VAR_055573
Natural variant4931N → T.
Corresponds to variant rs8091003 [ dbSNP | Ensembl ].
VAR_024385
Natural variant4981T → N.
Corresponds to variant rs8091117 [ dbSNP | Ensembl ].
VAR_024386
Natural variant5281Y → S.
Corresponds to variant rs16961689 [ dbSNP | Ensembl ].
VAR_055574
Natural variant5381D → N.
Corresponds to variant rs34302455 [ dbSNP | Ensembl ].
VAR_055575
Natural variant6651M → I.
Corresponds to variant rs35360042 [ dbSNP | Ensembl ].
VAR_055576
Natural variant8211L → Q.
Corresponds to variant rs16961692 [ dbSNP | Ensembl ].
VAR_055577
Natural variant8281D → N.
Corresponds to variant rs3752094 [ dbSNP | Ensembl ].
VAR_060249
Natural variant8411Y → F.
Corresponds to variant rs3752095 [ dbSNP | Ensembl ].
VAR_020364

Sequences

Sequence LengthMass (Da)Tools
Q02413 [UniParc].

Last modified March 23, 2010. Version 2.
Checksum: FEA471244B9D67AE

FASTA1,049113,748
        10         20         30         40         50         60 
MDWSFFRVVA MLFIFLVVVE VNSEFRIQVR DYNTKNGTIK WHSIRRQKRE WIKFAAACRE 

        70         80         90        100        110        120 
GEDNSKRNPI AKIHSDCAAN QQVTYRISGV GIDQPPYGIF VINQKTGEIN ITSIVDREVT 

       130        140        150        160        170        180 
PFFIIYCRAL NSMGQDLERP LELRVRVLDI NDNPPVFSMA TFAGQIEENS NANTLVMILN 

       190        200        210        220        230        240 
ATDADEPNNL NSKIAFKIIR QEPSDSPMFI INRNTGEIRT MNNFLDREQY GQYALAVRGS 

       250        260        270        280        290        300 
DRDGGADGMS AECECNIKIL DVNDNIPYME QSSYTIEIQE NTLNSNLLEI RVIDLDEEFS 

       310        320        330        340        350        360 
ANWMAVIFFI SGNEGNWFEI EMNERTNVGI LKVVKPLDYE AMQSLQLSIG VRNKAEFHHS 

       370        380        390        400        410        420 
IMSQYKLKAS AISVTVLNVI EGPVFRPGSK TYVVTGNMGS NDKVGDFVAT DLDTGRPSTT 

       430        440        450        460        470        480 
VRYVMGNNPA DLLAVDSRTG KLTLKNKVTK EQYNMLGGKY QGTILSIDDN LQRTCTGTIN 

       490        500        510        520        530        540 
INIQSFGNDD RTNTEPNTKI TTNTGRQEST SSTNYDTSTT STDSSQVYSS EPGNGAKDLL 

       550        560        570        580        590        600 
SDNVHFGPAG IGLLIMGFLV LGLVPFLMIC CDCGGAPRSA AGFEPVPECS DGAIHSWAVE 

       610        620        630        640        650        660 
GPQPEPRDIT TVIPQIPPDN ANIIECIDNS GVYTNEYGGR EMQDLGGGER MTGFELTEGV 

       670        680        690        700        710        720 
KTSGMPEICQ EYSGTLRRNS MRECREGGLN MNFMESYFCQ KAYAYADEDE GRPSNDCLLI 

       730        740        750        760        770        780 
YDIEGVGSPA GSVGCCSFIG EDLDDSFLDT LGPKFKKLAD ISLGKESYPD LDPSWPPQST 

       790        800        810        820        830        840 
EPVCLPQETE PVVSGHPPIS PHFGTTTVIS ESTYPSGPGV LHPKPILDPL GYGNVTVTES 

       850        860        870        880        890        900 
YTTSDTLKPS VHVHDNRPAS NVVVTERVVG PISGADLHGM LEMPDLRDGS NVIVTERVIA 

       910        920        930        940        950        960 
PSSSLPTSLT IHHPRESSNV VVTERVIQPT SGMIGSLSMH PELANAHNVI VTERVVSGAG 

       970        980        990       1000       1010       1020 
VTGISGTTGI SGGIGSSGLV GTSMGAGSGA LSGAGISGGG IGLSSLGGTA SIGHMRSSSD 

      1030       1040 
HHFNQTIGSA SPSTARSRIT KYSTVQYSK 

« Hide

References

« Hide 'large scale' references
[1]"Desmosomal glycoprotein DGI, a component of intercellular desmosome junctions, is related to the cadherin family of cell adhesion molecules."
Wheeler G.N., Parker A.E., Thomas C.L., Ataliotis P., Poynter D., Arnemann J., Rutman A.J., Pidsley S.C., Watt F.M., Rees D.A., Buxton R.S., Magee A.I.
Proc. Natl. Acad. Sci. U.S.A. 88:4796-4800(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-11.
Tissue: Keratinocyte.
[2]"Structural analysis and expression of human desmoglein: a cadherin-like component of the desmosome."
Nilles L.A., Parry D.A., Powers E.E., Angst B.D., Wagner R.M., Green K.J.
J. Cell Sci. 99:809-821(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-11.
Tissue: Foreskin.
[3]"DNA sequence and analysis of human chromosome 18."
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. expand/collapse author list , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.
Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma."
Rickman L., Simrak D., Stevens H.P., Hunt D.M., King I.A., Bryant S.P., Eady R.A.J., Leigh I.M., Arnemann J., Magee A.I., Kelsell D.P., Buxton R.S.
Hum. Mol. Genet. 8:971-976(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PPKS1.
[5]"Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry."
Ramachandran P., Boontheung P., Xie Y., Sondej M., Wong D.T., Loo J.A.
J. Proteome Res. 5:1493-1503(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-110.
Tissue: Saliva.
[6]"Interactions of plakoglobin and beta-catenin with desmosomal cadherins: basis of selective exclusion of alpha- and beta-catenin from desmosomes."
Choi H.J., Gross J.C., Pokutta S., Weis W.I.
J. Biol. Chem. 284:31776-31788(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH JUP/PLAKOGLOBIN.
[7]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-579, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting."
Samuelov L., Sarig O., Harmon R.M., Rapaport D., Ishida-Yamamoto A., Isakov O., Koetsier J.L., Gat A., Goldberg I., Bergman R., Spiegel R., Eytan O., Geller S., Peleg S., Shomron N., Goh C.S., Wilson N.J., Smith F.J. expand/collapse author list , Pohler E., Simpson M.A., McLean W.H., Irvine A.D., Horowitz M., McGrath J.A., Green K.J., Sprecher E.
Nat. Genet. 45:1244-1248(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN EPKHE.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X56654 mRNA. Translation: CAA39976.1.
AF097935 mRNA. Translation: AAC83817.1.
AC009717 Genomic DNA. No translation available.
CCDSCCDS11896.1.
PIRIJHUG1. S16906.
RefSeqNP_001933.2. NM_001942.2.
UniGeneHs.2633.

3D structure databases

ProteinModelPortalQ02413.
SMRQ02413. Positions 47-516.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108162. 21 interactions.
IntActQ02413. 12 interactions.
STRING9606.ENSP00000257192.

PTM databases

PhosphoSiteQ02413.

Polymorphism databases

DMDM292495005.

Proteomic databases

MaxQBQ02413.
PaxDbQ02413.
PRIDEQ02413.

Protocols and materials databases

DNASU1828.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000257192; ENSP00000257192; ENSG00000134760.
GeneID1828.
KEGGhsa:1828.
UCSCuc002kwp.3. human.

Organism-specific databases

CTD1828.
GeneCardsGC18P028921.
H-InvDBHIX0039708.
HGNCHGNC:3048. DSG1.
HPACAB009394.
HPA022128.
MIM125670. gene.
148700. phenotype.
615508. phenotype.
neXtProtNX_Q02413.
Orphanet369999. 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.
PharmGKBPA27501.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG283402.
HOGENOMHOG000236266.
HOVERGENHBG005532.
InParanoidQ02413.
KOK07596.
OMAVRYVMGN.
OrthoDBEOG7VTDM9.
PhylomeDBQ02413.
TreeFamTF331809.

Enzyme and pathway databases

ReactomeREACT_578. Apoptosis.

Gene expression databases

ArrayExpressQ02413.
BgeeQ02413.
CleanExHS_DSG1.
GenevestigatorQ02413.

Family and domain databases

Gene3D2.60.40.60. 4 hits.
4.10.900.10. 1 hit.
InterProIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR000233. Cadherin_cytoplasmic-dom.
IPR027397. Catenin_binding_dom.
IPR009123. Desmoglein.
IPR009122. Desmosomal_cadherin.
[Graphical view]
PANTHERPTHR24025. PTHR24025. 1 hit.
PfamPF00028. Cadherin. 3 hits.
PF01049. Cadherin_C. 1 hit.
[Graphical view]
PRINTSPR00205. CADHERIN.
PR01818. DESMOCADHERN.
PR01819. DESMOGLEIN.
SMARTSM00112. CA. 4 hits.
[Graphical view]
SUPFAMSSF49313. SSF49313. 4 hits.
PROSITEPS00232. CADHERIN_1. 2 hits.
PS50268. CADHERIN_2. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDesmoglein_1.
GenomeRNAi1828.
NextBio7461.
PMAP-CutDBQ02413.
PROQ02413.
SOURCESearch...

Entry information

Entry nameDSG1_HUMAN
AccessionPrimary (citable) accession number: Q02413
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: March 23, 2010
Last modified: July 9, 2014
This is version 145 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM