Skip Header

 
Contribute Send feedback

Reviewed, UniProtKB/Swiss-Prot Q02413 (DSG1_HUMAN)

Last modified November 25, 2008. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Desmoglein-1
Alternative name(s):
    Desmosomal glycoprotein 1
      Short name=DG1
      Short name=DGI
    Pemphigus foliaceus antigen
Gene names
Name: DSG1
Synonyms: CDHF4
OrganismHomo sapiens (Human)
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.

Subcellular location

Cell membrane; Single-pass type I membrane proteinBy similarity. Cell junctiondesmosome.

Tissue specificity

Epidermis, tongue, tonsil and esophagus.

Domain

Calcium may be bound by the cadherin-like repeats Potential.

Involvement in disease

Defects in DSG1 are the cause of palmoplantar keratoderma striate type 1 (SPPK1) [MIM:148700]; also known as keratosis palmoplantaris striata I. SPPK1 is a dermatoligical 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.

Sequence similarities

Contains 4 cadherin domains.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

SSSCA1O602321EBI-1045757,EBI-741415

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 – 56921 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

Glycosylation361N-linked (GlcNAc...) Potential
Glycosylation1101N-linked (GlcNAc...)
Glycosylation1801N-linked (GlcNAc...) Potential

Natural variations

Natural variant4931N → T: dbSNP rs8091003.
VAR_024385
Natural variant4981T → N: dbSNP rs8091117.
VAR_024386
Natural variant8411Y → F: dbSNP rs3752095.
VAR_020364

Sequences

Sequence LengthMass (Da)Tools
Q02413-1 [UniParc].

Last modified October 1, 1993. Version 1.
Checksum: EEE125655B9D6619

FASTA1,049113,716
        10         20         30         40         50         60 
MDWSFFRVVA VLFIFLVVVE 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: 1711210] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
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: 1770008] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Foreskin.
[3]"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: 10332028] [Abstract]
Cited for: INVOLVEMENT IN SPPK1.
[4]"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: 16740002] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-110, MASS SPECTROMETRY.
Tissue: Saliva.
+Additional computationally mapped references.

Cross-references

Sequence databases

X56654 mRNA. Translation: CAA39976.1.
AF097935 mRNA. Translation: AAC83817.1.
PIRIJHUG1. S16906.
RefSeqNP_001933.2.
UniGeneHs.2633

3D structure databases

HSSPHSSP built from PDB template 1NCJ based on UniProtKB P15116.
ModBaseSearch...

Protein-protein interaction databases

IntActQ02413.

PTM databases

PhosphoSiteQ02413.

Genome annotation databases

EnsemblENSG00000134760. Homo sapiens. [Contig view]
GeneID1828.
KEGGhsa:1828.

Organism-specific databases

H-InvDBHIX0039708.
HGNCHGNC:3048. DSG1.
HPACAB009394.
MIM125670. gene.
148700. phenotype.
Orphanet50942. Keratosis palmoplantaris striata.
PharmGKBPA27501.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMQ02413.
HOVERGENQ02413.

Gene expression databases

ArrayExpressQ02413.
CleanExHS_DSG1.
GermOnlineENSG00000134760. Homo sapiens.

Family and domain databases

InterProIPR002126. Cadherin.
IPR000233. Cadherin_C_term.
IPR009122. Desmo_cadherin.
IPR009123. Desmoglein.
IPR015487. Desmoglein1.
[Graphical view]
Gene3DG3DSA:2.60.40.60. Cadherin. 3 hits.
PANTHERPTHR10596:SF32. Desmoglein1. 1 hit.
PfamPF00028. Cadherin. 4 hits.
PF01049. Cadherin_C. 1 hit.
[Graphical view]
PRINTSPR00205. CADHERIN.
PR01818. DESMOCADHERN.
PR01819. DESMOGLEIN.
SMARTSM00112. CA. 4 hits.
[Graphical view]
PROSITEPS00232. CADHERIN_1. 2 hits.
PS50268. CADHERIN_2. 4 hits.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio7461.
SOURCESearch...

Entry information

Entry nameDSG1_HUMAN
AccessionPrimary (citable) accession number: Q02413
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: November 25, 2008
This is version 88 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 18

Human chromosome 18: 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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents