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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DSG1 Gene

protein-coding GIFtS: 63
GCID: GC18P028921

desmoglein 1

(Previous symbol: DSG)

Explore 54 diseases affiliated with
DSG1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Desmoglein 1¹ ²		DG1² ³
CDHF4¹ ² ³		DGI² ³
DSG¹ ²		PPKS1² ⁵
Cadherin Family Member 4² ³		SPPK1² ⁵
Desmosomal Glycoprotein 1² ³		Desmoglein-1¹
Pemphigus Foliaceus Antigen² ³

External Ids:	HGNC: 3048¹	Entrez Gene: 1828²	Ensembl: ENSG00000134760⁷	OMIM: 125670⁵	UniProtKB: Q02413³

Export aliases for DSG1 gene to outside databases

Previous GC identifers: GC18P028717 GC18P027150 GC18P027152 GC18P025754

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DSG1:

Desmosomes are cell-cell junctions between epithelial, myocardial and certain other cell types. Desmoglein 1 is a

calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three

desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule

superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. The protein encoded by

this gene has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus foliaceus.

(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: DSG1_HUMAN, Q02413

Function: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and

intermediate filaments mediating cell-cell adhesion

Gene Wiki entry for DSG1 (Desmoglein 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000018.9 NC_018929.1 NT_010966.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DSG1 gene promoter:
RelA HNF-1A Evi-1 YY1 PPAR-alpha S8 CP2 Cart-1 ATF6
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DSG1 promoter sequence

Search SABiosciences Chromatin IP Primers for DSG1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DSG1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q12.1 Ensembl cytogenetic band: 18q12.1 HGNC cytogenetic band: 18q12.1

DSG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DSG1 gene location

GeneLoc information about chromosome 18 GeneLoc Exon Structure

GeneLoc location for GC18P028921: view genomic region (about GC identifiers)

Start:	28,898,052 bp from pter	End:	28,937,394 bp from pter
Size:	39,343 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DSG1_HUMAN, Q02413 (See protein sequence)

Recommended Name: Desmoglein-1 precursor

Size: 1049 amino acids; 113748 Da

Subunit: Binds to JUP/plakoglobin

Subcellular location: Cell membrane; Single-pass type I membrane protein (By similarity). Cell junction, desmosome

Explore the universe of human proteins at neXtProt for DSG1: NX_Q02413

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q02413

DSG1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001933.2

ENSEMBL proteins:

ENSP00000257192 ENSP00000462666

Reactome Protein details: Q02413
Human Recombinant Protein Products:

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	Uscn Proteins for DSG1

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0005886	plasma membrane	TAS	--
GO:0005911	colocalizes with cell-cell junction	IDA	7983064
GO:0009898	internal side of plasma membrane	IDA	7983064
GO:0016021	integral to membrane	IEA	--

DSG1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for DSG1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DSG1 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR009123 Desmoglein

IPR000233 Cadherin_cytoplasmic-dom

IPR002126 Cadherin

IPR015919 Cadherin-like

IPR009122 Desmo_cadherin

Graphical View of Domain Structure for InterPro Entry Q02413

ProtoNet protein and cluster: Q02413

3 Blocks protein families:

IPB002126 Cadherin

IPB009122 Desmosomal cadherin signature

IPB009123 Desmoglein signature

UniProtKB/Swiss-Prot: DSG1_HUMAN, Q02413

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)

Similarity: Contains 4 cadherin domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: DSG1_HUMAN, Q02413

Function: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and

intermediate filaments mediating cell-cell adhesion

Genatlas biochemistry entry for DSG1:

desmoglein 1 (desmosomal glycoprotein, cadherin superfamily of calcium dependent cell-adhesion molecule),pemphigus

foliaceus and herpetiform pemphigus autoantigen,mostly expressed in stratified squamous epithelia suprabasal layer

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		hsa-miR-3690 hsa-miR-1303
		SwitchGear 3'UTR luciferase reporter plasmid: DSG1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for DSG1

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		Search LifeMap BioReagents cell lines for DSG1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSG1

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	NAS	1770008
GO:0015643	toxin binding	NAS	12582396
GO:0045295	gamma-catenin binding	IPI	7983064

DSG1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for DSG1:

Increased gamma-H2AX phosphory

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Apoptotic cleavage of cellular proteins

Apoptotic cleavage of cellular proteins

1.00

Apoptotic execution phase

0.73

Apoptotic cleavage of cell adhesion proteins

Apoptotic cleavage of cell adhesion proteins

1.00

Staphylococcus aureus infection

Staphylococcus aureus infection

1.00

Ubiquitinated Orc1 is degraded by the proteasome

Apoptosis

0.31

Pathway sources
See GeneCards unified pathways
Show all pathways

4 Reactome Pathways for DSG1

	Apoptotic cleavage of cell adhesion proteins
	Apoptotic execution phase
	Apoptotic cleavage of cellular proteins
	Apoptosis

1 Kegg Pathway (Kegg details for DSG1):

Staphylococcus aureus infection

DSG1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DSG1

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

5/61 Interacting proteins for DSG1 (Q02413³ ENSP00000257192⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 61)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
JUP	P14923³, ENSP00000311113⁴	I2D: score=3 STRING: ENSP00000311113
PKP3	Q9Y446³, ENSP00000331678⁴	I2D: score=3 STRING: ENSP00000331678
DSC2	Q02487³, ENSP00000280904⁴	I2D: score=2 STRING: ENSP00000280904
PKP2	Q99959³, ENSP00000070846⁴	I2D: score=2 STRING: ENSP00000070846
USP1	O94782³, ENSP00000343526⁴	I2D: score=2 STRING: ENSP00000343526

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006915	apoptotic process	TAS	--
GO:0006921	cellular component disassembly involved in execution phase of apoptosis	TAS	--
GO:0007043	cell-cell junction assembly	NAS	12485422
GO:0007156	homophilic cell adhesion	IEA	--
GO:0016337	cell-cell adhesion	NAS	1711210

DSG1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

DSG1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DSG1

1 HMDB Compound for DSG1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

8 Novoseek chemical compound relationships for DSG1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
rituximab	49	1	17461818 (1)
ivig	45.7	5	12482393 (3), 18423257 (1), 19222460 (1)
toxin a	41.6	6	11062541 (2), 15854034 (1), 11982763 (1), 15482466 (1)
serine	31.9	6	8731669 (2), 19177137 (1), 11442563 (1)
sucrose	0	1	11710948 (1)
calcium	0	10	18578707 (3), 7543549 (1), 1657105 (1), 7860995 (1) (see all 6)
retinoic acid	0	2	9892899 (1), 15482329 (1)
acetylcholine	0	2	17135055 (1), 18429643 (1)

Search CenterWatch for drugs/clinical trials and news about DSG1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DSG1 gene:

NM_001942.2

Unigene Cluster for DSG1:

Desmoglein 1

Hs.2633 [show with all ESTs]

Unigene Representative Sequence: NM_001942

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000257192(uc002kwp.3 uc010xbp.2) ENST00000462981

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		hsa-miR-3690 hsa-miR-1303
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DSG1

Additional cDNA sequence:

AF088042.1 AF097935.1 AK302888.1 X56654.1

2 DOTS entries:

DT.110322 DT.91855874

24/44 AceView cDNA sequences (see all 44):

W94221 BU727128 AI217100 AW104873 AA736397 AI127361 BX645688 W72968

AI144410 AF088042 AI147042 W76205 BX476267 BG740639 BG742531 BG681002

AA041427 BG742129 AA041388 W79210 X56654 NM_001942 BM807172 AA577788

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DSG1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

DSG1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Maxillary Process

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See DSG1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DSG1

SOURCE GeneReport for Unigene cluster: Hs.2633

UniProtKB/Swiss-Prot: DSG1_HUMAN, Q02413

Tissue specificity: Epidermis, tongue, tonsil and esophagus

SABiosciences Expression via Pathway-Focused PCR Arrays including DSG1:

Adherens Junctions in human mouse rat

Cell Junction PathwayFinder in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSG1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for DSG1 gene from 3/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F1NHU4_CHICK⁶	Uncharacterized protein	50(a)	1 → many	2(109227240-109245549)
lizard (Anolis carolinensis)	Reptilia	--	--	45(a)	1 → many	GL343207.1(3859127-3883207)
zebrafish (Danio rerio)	Actinopterygii	si:ch73-74h11.1⁶ FP236168.1⁶ (see all 3)	--	27(a) 22(a) (see all 3)	many ↔ many many ↔ many (see all 3)	20(16990224-17010459) 2(2392229-2424395)

ENSEMBL Gene Tree for DSG1 (if available)
TreeFam Gene Tree for DSG1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for DSG1 gene

CDH4² CDH18² DSG4² CDH3² CDH10² CDH11² CDH1² CDH6²

DSC2² CDH8² CDH20² CDH22² DSC1² CDH19² CDH7² DSG2²

CDH9² CDH12² CDH26² DSC3² CDH2² CDH24² CDH15² CDH5²

DSG3²

4 SIMAP similar genes for DSG1 using alignment to 3 protein entries: DSG1_HUMAN (see all proteins):

DSG3 DSG4 DKFZp686P23184 DSG2

DSG1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 18 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs75152500^1,2	F,	--	25752308(+)	`ATTAAC/TAAATT`	1	--	us2k¹		1		WA	118
rs79848365^1,2		--	25752335(+)	`TTAACA/TTCGTA`	1	--	us2k¹		1		WA	118
rs7233743^1,2	C,F,A,H,	--	25752705(+)	`TCATAG/AGTTAA`	1	--	us2k¹ tfbs³		13		NS EA NA WA CSA	760
rs3810008^1,2	C,F,A,H,	--	25752751(-)	`CTGGCC/GGATTT`	1	--	us2k¹		12		EA NS NA WA CSA	670
rs3810007^1,2	C,F,A,H,	--	25752834(-)	`GCTGCC/TCATGT`	1	--	us2k¹		15		NS EA WA NA CSA	766
rs72923453^1,2	C,	--	25752842(+)	`AGCCTA/GTCTCC`	1	--	us2k¹		0	--	--	--	--
rs77143415^1,2	F,	--	25752849(+)	`CTCCTC/TCCCTC`	1	--	us2k¹		1		WA	118
rs115478604^1,2	C,F,	--	25753339(+)	`TTTCTG/ATGTTT`	1	--	us2k¹		1		WA	118
rs1426309^1,2	C,F,A,H,	--	25753345(+)	`TGTTTT/CCATTA`	1	--	us2k¹ tfbs³		25		NA EA NS WA CSA	2587
rs6506914^1,2	C,F,A,H,	--	25753528(+)	`AAAATG/TGAGGA`	1	--	us2k¹		20		NS EA NA WA CSA	2344

HapMap Linkage Disequilibrium report for DSG1 (28898052 - 28937394 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DSG1: --
Human Gene Mutation Database (HGMD): DSG1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DSG1

DNA2.0 Custom Variant and Variant Library Synthesis for DSG1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

DSG1 for disorders           About GeneDecksing

OMIM gene information: 125670
OMIM disorders: 148700
UniProtKB/Swiss-Prot: DSG1_HUMAN, Q02413

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

20/54 diseases for DSG1 (see all 54): About MalaCards

pemphigus foliaceus pemphigus subcorneal pustular dermatosis multiple self healing squamous epithelioma

keratosis palmoplantaris striata i mixed connective tissue disease nonepidermolytic palmoplantar keratoderma hailey-hailey disease

epidermolysis bullosa acquisita focal palmoplantar keratoderma connective tissue disease hypersensitivity reaction type ii disease

pemphigus vulgaris dendritic cell sarcoma follicular dendritic cell sarcoma keratoderma

seborrheic keratosis palmoplantar keratosis epidermolysis bullosa herpes gestationis

6 diseases from the University of Copenhagen DISEASES database for DSG1:

Dermatitis Netherton syndrome Keratosis Hypersensitivity reaction type II disease

Ritter's disease Epidermolysis bullosa acquisita

10/33 Novoseek disease relationships for DSG1 gene (see all 33) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pemphigus foliaceus	98.4	192	9204055 (4), 15196262 (3), 9424092 (3), 10882765 (3) (see all 99)
pemphigus	97.2	138	17263817 (5), 7543545 (4), 10021453 (3), 10233237 (3) (see all 85)
pemphigus vulgaris	96.9	123	9406813 (5), 9204055 (3), 10951143 (2), 12174096 (2) (see all 82)
acantholysis	93.9	17	17452959 (1), 1657105 (1), 16014554 (1), 17058228 (1) (see all 15)
bullous impetigo	85.1	4	17075192 (1), 17657525 (1), 11062541 (1), 18093494 (1)
keratoderma palmoplantar	84.1	16	19018793 (2), 11260246 (1), 11982762 (1), 18288204 (1) (see all 12)
pemphigoid bullous	82.4	12	18833046 (2), 8829509 (1), 9174592 (1), 15242953 (1) (see all 10)
staphylococcal scalded skin syndrome	80.8	3	17075192 (1), 11062541 (1), 14625102 (1)
subcorneal pustular dermatosis	80.5	3	18092844 (1)
skin diseases bullous	76.7	6	15196262 (1), 17056584 (1), 16972006 (1)

Genetic Association Database (GAD): DSG1
Human Genome Epidemiology (HuGE) Navigator: DSG1 (5 documents)

Export disorders for DSG1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for DSG1 gene, integrated from 9 sources (see all 408):
(articles sorted by number of sources associating them with DSG1)

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Tunisian endemic pemphigus foliaceus is associated with desmoglein 1 gene polymorphism. (PubMed id 12209366)^{1, 4, 9} Ayed M.B....Tron F. (2002)
Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP). (PubMed id 1889810)^{1, 3, 9} Arnemann J....Buxton R.S. (1991)
Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. (PubMed id 16740002)^{1, 2} Ramachandran P....Loo J.A. (2006)
A polymorphic variant of the gene coding desmoglein 1, the target autoantigen of pemphigus foliaceus, is associated with the disease. (PubMed id 11294567)^{1, 4} Martel P....Tron F. (2001)
N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. (PubMed id 10332028)^{1, 2} Rickman L.... Buxton R.S. (1999)
Structural analysis and expression of human desmoglein: a cadherin- like component of the desmosome. (PubMed id 1770008)^{1, 2} Nilles L.A....Green K.J. (1991)
Desmosomal glycoprotein DGI, a component of intercellular desmosome junctions, is related to the cadherin family of cell adhesion molecules. (PubMed id 1711210)^{1, 2} Wheeler G.N.... Magee A.I. (1991)
Coordinated expression of desmoglein 1 and desmocollin 1 regulates intercellular adhesion. (PubMed id 15606501)^{1, 9} Getsios S....Green K.J. (2004)
Changes in desmoglein 1 expression and subcellular localization in cultured keratinocytes subjected to anti-desmoglein 1 pemphigus autoimmunity. (PubMed id 17058228)^{1, 9} Cirillo N....Lanza A. (2007)
Differential effects of desmoglein 1 and desmoglein 3 on desmosome formation. (PubMed id 12485422)^{1, 9} Hanakawa Y....Hashimoto K. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1828	HGNC: 3048	AceView: DSG1	Ensembl:ENSG00000134760	euGenes: HUgn1828
ECgene: DSG1	Kegg: 1828	H-InvDB: DSG1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for DSG1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for DSG1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for DSG1 gene
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