Reviewed, UniProtKB/Swiss-Prot Q02413 (DSG1_HUMAN)

Names and origin

Protein names

Recommended name:
    Desmoglein-1
Alternative name(s):
    Desmosomal glycoprotein 1
      Short name=DG1
      Short name=DGI
    Pemphigus foliaceus antigen

Gene names

Name:	DSG1
Synonyms:	CDHF4

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1049 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 junction › desmosome.
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.

Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Cell junction Cell membrane Membrane
Coding sequence diversity	Polymorphism
Disease	Palmoplantar keratoderma
Domain	Repeat Signal Transmembrane
Ligand	Calcium
PTM	Cleavage on pair of basic residues Glycoprotein
Gene Ontology (GO)
Biological process	calcium-dependent cell-cell adhesion Ref.2 Non-traceable author statement. Source: UniProtKB cell-cell junction assembly Non-traceable author statement. Source: UniProtKB homophilic cell adhesion Inferred from electronic annotation. Source: InterPro
Cellular component	cytosol Inferred from Experiment. Source: Reactome desmosome Ref.1 Non-traceable author statement. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	calcium ion binding Ref.2 Non-traceable author statement. Source: UniProtKB protein binding Non-traceable author statement. Source: UniProtKB toxin binding Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
SSSCA1	O60232	1	EBI-1045757,EBI-741415

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 23	23	Potential
	Propeptide	24 – 49	26	Potential		PRO_0000003837
	Chain	50 – 1049	1000	Desmoglein-1		PRO_0000003838
Regions
	Topological domain	50 – 548	499	Extracellular Potential
	Transmembrane	549 – 569	21	Potential
	Topological domain	570 – 1049	480	Cytoplasmic Potential
	Domain	50 – 158	109	Cadherin 1
	Domain	159 – 270	112	Cadherin 2
	Domain	271 – 385	115	Cadherin 3
	Domain	386 – 497	112	Cadherin 4
	Repeat	813 – 839	27	Desmoglein repeat 1
	Repeat	840 – 869	30	Desmoglein repeat 2
	Repeat	870 – 899	30	Desmoglein repeat 3
	Repeat	900 – 927	28	Desmoglein repeat 4
	Repeat	928 – 956	29	Desmoglein repeat 5
	Compositional bias	969 – 1019	51	Gly/Ser-rich
Amino acid modifications
	Glycosylation	36	1	N-linked (GlcNAc...) Potential
	Glycosylation	110	1	N-linked (GlcNAc...)
	Glycosylation	180	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	493	1	N → T: dbSNP rs8091003.		VAR_024385
	Natural variant	498	1	T → N: dbSNP rs8091117.		VAR_024386
	Natural variant	841	1	Y → F: dbSNP rs3752095.		VAR_020364

Sequences

	Sequence		Length	Mass (Da)
	Q02413-1 [UniParc]. Last modified October 1, 1993. Version 1. Checksum: EEE125655B9D6619	FASTA	1,049	113,716
	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

References

	« Hide 'large scale' referencesShow '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
EMBLGenBankDDBJ	X56654 mRNA. Translation: CAA39976.1. AF097935 mRNA. Translation: AAC83817.1.
PIR	IJHUG1. S16906.
RefSeq	NP_001933.2.
UniGene	Hs.2633
3D structure databases
HSSP	HSSP built from PDB template 1NCJ based on UniProtKB P15116.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q02413.
PTM databases
PhosphoSite	Q02413.
Genome annotation databases
Ensembl	ENSG00000134760. Homo sapiens. [Contig view]
GeneID	1828.
KEGG	hsa:1828.
Organism-specific databases
H-InvDB	HIX0039708.
HGNC	HGNC:3048. DSG1.
HPA	CAB009394.
MIM	125670. gene. 148700. phenotype.
Orphanet	50942. Keratosis palmoplantaris striata.
PharmGKB	PA27501.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q02413.
HOVERGEN	Q02413.
Gene expression databases
ArrayExpress	Q02413.
CleanEx	HS_DSG1.
GermOnline	ENSG00000134760. Homo sapiens.
Family and domain databases
InterPro	IPR002126. Cadherin. IPR000233. Cadherin_C_term. IPR009122. Desmo_cadherin. IPR009123. Desmoglein. IPR015487. Desmoglein1. [Graphical view]
Gene3D	G3DSA:2.60.40.60. Cadherin. 3 hits.
PANTHER	PTHR10596:SF32. Desmoglein1. 1 hit.
Pfam	PF00028. Cadherin. 4 hits. PF01049. Cadherin_C. 1 hit. [Graphical view]
PRINTS	PR00205. CADHERIN. PR01818. DESMOCADHERN. PR01819. DESMOGLEIN.
SMART	SM00112. CA. 4 hits. [Graphical view]
PROSITE	PS00232. CADHERIN_1. 2 hits. PS50268. CADHERIN_2. 4 hits. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	7461.
SOURCE	Search...

Entry information

Entry name

DSG1_HUMAN

Accession

Primary (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 status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)