DSC1 Gene
protein-coding GIFtS: 54
GCID: GC18M028732
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desmocollin 1
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Aliases
for DSC1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Desmocollin 11 2 | | CDHF11 2 3 | | Cadherin Family Member 12 3 | | Desmosomal Glycoprotein 2/32 3 | | DG2/DG32 3 | | Desmocollin-11 |
Export aliases for DSC1 gene to outside databasesPrevious GC identifers: GC18M028528 GC18M026961 GC18M026963 GC18M025564 |
Summaries
for DSC1 gene(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 DSC1:
The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily ofthe cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily inepithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required forcell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18,occupying less than 650 kb combined. Alternative splicing results in two transcript variants encoding distinctisoforms. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DSC1_HUMAN, Q08554Function: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins andintermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) bymediating differential adhesiveness between cells that express different isoforms. Linked to the keratinization ofepithelial tissues
Gene Wiki entry for DSC1
|
Genomic Views
for DSC1 gene
(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 DSC1 gene promoter:
POU2F2 (Oct-2.1) Oct-B1 oct-B3 oct-B2 ATF-2 POU2F2 POU2F2C POU2F1 POU2F1a POU2F2B
Other transcription factors
Search SABiosciences Chromatin IP Primers for DSC1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DSC1 |
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: 18q12.1DSC1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 18 GeneLoc Exon Structure GeneLoc location for GC18M028732: view genomic region
(about GC identifiers)
Start:
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28,709,199 bp from pter |
End:
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28,742,819 bp from pter |
Size:
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33,621 bases |
Orientation:
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minus strand |
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Proteins
for DSC1 gene
(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: DSC1_HUMAN, Q08554 (See
protein sequence)Recommended Name: Desmocollin-1 precursor Size: 894 amino acids; 99987 Da
Subunit: Binds to JUP/plakoglobin
Subcellular location: Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome
Secondary accessions: Q9HB01Alternative splicing: 2 isoforms: Q08554-1 Q08554-2 Explore the universe of human proteins at neXtProt for DSC1: NX_Q08554
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q08554
DSC1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_004939.1 NP_077739.1
ENSEMBL proteins: ENSP00000257197 ENSP00000257198
Human Recombinant Protein Products:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
DSC1 for ontologies About GeneDecksing
DSC1 Antibody Products:
Assay Products for DSC1: |
Protein
Domains /
Families
for DSC1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DSC1 for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry Q08554ProtoNet protein and cluster: Q08554 3 Blocks protein families: IPB002126 Cadherin IPB009122 Desmosomal cadherin signature IPB009124 Desmocollin signature
UniProtKB/Swiss-Prot: DSC1_HUMAN, Q08554Domain: Calcium may be bound by the cadherin-like repeats (Potential)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 5 cadherin domains |
Function
for DSC1 gene
(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: DSC1_HUMAN, Q08554Function: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins andintermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) bymediating differential adhesiveness between cells that express different isoforms. Linked to the keratinization ofepithelial tissues Genatlas biochemistry entry for DSC1:desmocollin 1 (desmoglein related DGIV/DGV,desmosomal glycoprotein,cadherin superfamily of calcium dependentcell-adhesion molecule),specific for keratinizing epithelium of epidermis,expressed in suprabasal spinous layer ofepidermis
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DSC1 (see all 2)
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSC1 |
Gene Ontology (GO): 2 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 |
IEA | -- | | GO:0005515 | protein binding |
-- | -- |
DSC1 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for DSC1:
Animal Models:
Mouse knock-outs for DSC1: Dsc1tm1Dga Dsc1tm1Pko
9 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Dsc1):
DSC1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for DSC1 gene
(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
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DSC1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 16)
5/21 Interacting proteins for DSC1 (Q085543 ENSP000002571984) via UniProtKB, MINT, STRING, and/or I2D (see all 21)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007156 | homophilic cell adhesion |
IEA | -- |
DSC1 for ontologies About GeneDecksing
|
Drugs & Compounds
for DSC1 gene(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
|
DSC1 for compounds About GeneDecksing
 Browse Tocris compounds for DSC1
1 HMDB Compound for DSC1 About this table
1 Novoseek chemical compound relationship for DSC1 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| retinoic acid |
10.5 |
1 |
15482329 (1) |
Search CenterWatch for drugs/clinical trials and news about DSC1
|
Transcripts
for DSC1 gene(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 DSC1 gene (2 alternative transcripts): NM_004948.3 NM_024421.2 Unigene Cluster for DSC1: Desmocollin 1 Hs.567260 [show with all ESTs]Unigene Representative Sequence: X729252 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000257197(uc002kwm.3) ENST00000257198(uc002kwn.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DSC1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DSC1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): DSC1 (NM_024421) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DSC1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSC1 |
Additional cDNA sequence: X72925.1 Z34522.1 1 DOTS entry: DT.100737614 15 AceView cDNA sequences: AU120006 NM_024421 BX103703 NM_004948 AI160964 CA394960 BV197983 Z34522 BV197982 X72925 BF984389 AI092035 BG678493 BF984457 AU146202
GeneLoc Exon Structure
|
Expression
for DSC1 gene
(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
| DSC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGGCGAATG
About this image
See DSC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DSC1
SOURCE GeneReport for Unigene cluster: Hs.567260
UniProtKB/Swiss-Prot: DSC1_HUMAN, Q08554Tissue specificity: Strongly expressed in epidermis, less in lymph node and tongue
SABiosciences Expression via Pathway-Focused PCR Arrays including DSC1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DSC1
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSC1 |
Orthologs
for DSC1 gene
(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 DSC1 gene from 4/12 species (see all 12) About this table
ENSEMBL Gene Tree for DSC1 (if available)
TreeFam Gene Tree for DSC1 (if available) |
Paralogs
for DSC1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DSC1 gene
- CDH42 CDH182 DSG42 CDH32 CDH102 CDH112 CDH12 CDH62
- DSC22 CDH82 CDH202 CDH222 CDH192 DSG12 CDH72 DSG22
- CDH92 CDH122 CDH262 DSC32 CDH22 CDH242 CDH152 CDH52
- DSG32
9 SIMAP similar genes for DSC1 using alignment to 2 protein entries: DSC1_HUMAN (see all proteins):DSC2 DKFZp686P18250 DSC3 DKFZp686I11137 CDH3 CDH2
CDH1 CDH4 DSG4
DSC1 for paralogs About GeneDecksing
|
Genomic Variants
for DSC1 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 18 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DSC1 (28709199 - 28742819 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for DSC1
4 CNVs: 5900 102625 58823 5901 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DSC1 |
|
Disorders
/ Diseases
for DSC1 gene
(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
|
DSC1 for disorders About GeneDecksing
OMIM gene information: 125643
OMIM disorders: --
20/23  diseases for DSC1 (see all 23): About MalaCardssubcorneal pustular dermatosis hidradenitis suppurativa eczema herpeticum palmoplantar keratosis
hidradenitis astroblastoma hypopyon lichen planus
netherton syndrome pemphigus skin disease eczema
keratosis acne sinusitis hepatocellular carcinoma
alzheimer's disease periodontitis dermatitis psoriasis
2 diseases from the University of Copenhagen DISEASES database for DSC1:Dermatitis Netherton syndrome 4 Novoseek disease relationships for DSC1 gene About this table
Export disorders for DSC1 gene to outside databases
|
Publications
for DSC1 gene (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)
About This Section
|
PubMed articles for DSC1 gene, integrated from 9 sources (see all 71):
(articles sorted by number of sources associating them with DSC1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3. (PubMed id 11027496)1, 2, 9 Whittock N.V.... McGrath J.A. (2000)
- Differential synthesis of type 1 and type 2 desmocollin mRNAs in human stratified epithelia. (PubMed id 8507556)1, 2, 9 Theis D.G.... Franke W.W. (1993)
- Nomenclature of the desmosomal cadherins. (PubMed id 8486729)1, 3 Buxton R.S....Stanley J.R. (1993)
- Cloning of the cDNA (DSC1) coding for human type 1 desmocollin and its assignment to chromosome 18. (PubMed id 8288219)1, 2 King I.A.... Buxton R.S. (1993)
- Keratinization is associated with the expression of a new protein related to the desmosomal cadherins DGII/III. (PubMed id 1713860)1, 2 King I.A.... Buxton R.S. (1991)
- Desmocollin 1 expression and desmosomal remodeling during terminal differentiation of human anagen hair follicle: an electron microscopic study. (PubMed id 15140019)1, 9 Donetti E....Barajon I. (2004)
- Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome. (PubMed id 16628198)1, 9 Descargues P....Hovnanian A. (2006)
- Patterns of desmocollin synthesis in human epithelia: immunolocalization of desmocollins 1 and 3 in special epithelia and in cultured cells. (PubMed id 8884173)1, 9 Nuber U.A....Franke W.W. (1996)
- Interactions of plakoglobin and beta-catenin with des mosomal cadherins: basis of selective exclusion of alpha- and beta-catenin from desmosomes. (PubMed id 19759396)2, 9 Choi H.J....Weis W.I. (2009)
- Direct Ca2+-dependent heterophilic interaction between desmosomal cadherins, desmoglein and desmocollin, contributes to cell-cell adhesion. (PubMed id 9214392)1, 9 Chitaev N.A. and Troyanovsky S.M. (1997)
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External Searches for DSC1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DSC1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DSC1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DSC1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for DSC1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DSC1 gene:
Search GeneIP for patents involving DSC1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DSC1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DSC1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DSC1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DSC1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DSC1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DSC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DSC1 |
| |
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| | | | Search Tocris compounds for DSC1 |
| |  |  |  |  | | | | |
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 | | | DSC1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSC1 |
|  |  |  | | | | Search ThermoFisher Antibodies for DSC1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSC1 |
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