Q02413 (DSG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › 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.
Subunit structure	Binds to JUP/plakoglobin. Ref.6
Subcellular location	Cell membrane; Single-pass type I membrane protein By similarity. Cell junction › desmosome.
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	Keratoderma, palmoplantar, striate 1 (SPPK1) [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
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 Transmembrane helix
Ligand	Calcium Metal-binding
PTM	Cleavage on pair of basic residues Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	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: Compara protein stabilization Inferred from direct assay PubMed 7983064. Source: BHF-UCL response to progesterone stimulus Inferred from electronic annotation. Source: Compara
Cellular_component	apical plasma membrane Inferred from electronic annotation. Source: Compara cytosol Traceable author statement. Source: Reactome desmosome Non-traceable author statement Ref.1. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW internal side of plasma membrane Inferred from direct assay PubMed 7983064. Source: BHF-UCL lateral plasma membrane Inferred from electronic annotation. Source: Compara
Molecular_function	calcium ion binding Non-traceable author statement Ref.2. Source: UniProtKB toxin binding Non-traceable author statement PubMed 12582396. Source: UniProtKB
Complete GO annotation...

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	Helical; 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
	Modified residue	579	1	Phosphoserine Ref.7
	Glycosylation	36	1	N-linked (GlcNAc...) Potential
	Glycosylation	110	1	N-linked (GlcNAc...) Ref.5
	Glycosylation	180	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	11	1	M → V. Ref.1 Ref.2 Corresponds to variant rs1426310 [ dbSNP | Ensembl ].		VAR_060248
	Natural variant	395	1	T → S. Corresponds to variant rs16961655 [ dbSNP | Ensembl ].		VAR_055573
	Natural variant	493	1	N → T. Corresponds to variant rs8091003 [ dbSNP | Ensembl ].		VAR_024385
	Natural variant	498	1	T → N. Corresponds to variant rs8091117 [ dbSNP | Ensembl ].		VAR_024386
	Natural variant	528	1	Y → S. Corresponds to variant rs16961689 [ dbSNP | Ensembl ].		VAR_055574
	Natural variant	538	1	D → N. Corresponds to variant rs34302455 [ dbSNP | Ensembl ].		VAR_055575
	Natural variant	665	1	M → I. Corresponds to variant rs35360042 [ dbSNP | Ensembl ].		VAR_055576
	Natural variant	821	1	L → Q. Corresponds to variant rs16961692 [ dbSNP | Ensembl ].		VAR_055577
	Natural variant	828	1	D → N. Corresponds to variant rs3752094 [ dbSNP | Ensembl ].		VAR_060249
	Natural variant	841	1	Y → F. Corresponds to variant rs3752095 [ dbSNP | Ensembl ].		VAR_020364

Sequences

	Sequence		Length	Mass (Da)
	Q02413 [UniParc]. Last modified March 23, 2010. Version 2. Checksum: FEA471244B9D67AE	FASTA	1,049	113,748
	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

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] [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. , 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 SPPK1.
[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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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].
+	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.
IPI	IPI00025753.
PIR	IJHUG1. S16906.
RefSeq	NP_001933.2. NM_001942.2.
UniGene	Hs.2633.
3D structure databases
ProteinModelPortal	Q02413.
SMR	Q02413. Positions 47-516.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q02413. 10 interactions.
STRING	9606.ENSP00000257192.
PTM databases
PhosphoSite	Q02413.
Polymorphism databases
DMDM	292495005.
Proteomic databases
PaxDb	Q02413.
PRIDE	Q02413.
Protocols and materials databases
DNASU	1828.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000257192; ENSP00000257192; ENSG00000134760.
GeneID	1828.
KEGG	hsa:1828.
UCSC	uc002kwp.3. human.
Organism-specific databases
CTD	1828.
GeneCards	GC18P028921.
H-InvDB	HIX0039708.
HGNC	HGNC:3048. DSG1.
HPA	CAB009394. HPA022128.
MIM	125670. gene. 148700. phenotype.
neXtProt	NX_Q02413.
Orphanet	50942. Keratosis palmoplantaris striata.
PharmGKB	PA27501.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG283402.
HOGENOM	HOG000236266.
HOVERGEN	HBG005532.
InParanoid	Q02413.
KO	K07596.
OMA	EFRIQVR.
OrthoDB	EOG4NVZJK.
PhylomeDB	Q02413.
Enzyme and pathway databases
Reactome	REACT_578. Apoptosis.
Gene expression databases
ArrayExpress	Q02413.
Bgee	Q02413.
CleanEx	HS_DSG1.
Genevestigator	Q02413.
GermOnline	ENSG00000134760. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.60. 4 hits.
InterPro	IPR002126. Cadherin. IPR015919. Cadherin-like. IPR020894. Cadherin_CS. IPR000233. Cadherin_cytoplasmic-dom. IPR009123. Desmoglein. IPR009122. Desmosomal_cadherin. [Graphical view]
PANTHER	PTHR24025. PTHR24025. 1 hit.
Pfam	PF00028. Cadherin. 3 hits. PF01049. Cadherin_C. 1 hit. [Graphical view]
PRINTS	PR00205. CADHERIN. PR01818. DESMOCADHERN. PR01819. DESMOGLEIN.
SMART	SM00112. CA. 4 hits. [Graphical view]
SUPFAM	SSF49313. Cadherin. 4 hits.
PROSITE	PS00232. CADHERIN_1. 2 hits. PS50268. CADHERIN_2. 4 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	1828.
NextBio	7461.
PMAP-CutDB	Q02413.
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:	March 23, 2010
Last modified:	May 1, 2013
This is version 132 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.