Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways
Entrez ID	1823
Gene name	Desmocollin 1
Gene symbol	DSC1
Synonyms (NCBI Gene)	CDHF1DG2/DG3
Chromosome	18
Chromosome location	18q12.1
Summary	The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029850	hsa-miR-26b-5p	Microarray	19088304
MIRT945493	hsa-miR-122	CLIP-seq
MIRT945494	hsa-miR-1307	CLIP-seq
MIRT945495	hsa-miR-3135b	CLIP-seq
MIRT945496	hsa-miR-3163	CLIP-seq
MIRT945497	hsa-miR-3652	CLIP-seq
MIRT945498	hsa-miR-3688-5p	CLIP-seq
MIRT945499	hsa-miR-380	CLIP-seq
MIRT945500	hsa-miR-4423-5p	CLIP-seq
MIRT945501	hsa-miR-4430	CLIP-seq
MIRT945502	hsa-miR-4638-5p	CLIP-seq
MIRT945503	hsa-miR-4668-3p	CLIP-seq
MIRT945504	hsa-miR-942	CLIP-seq
MIRT945493	hsa-miR-122	CLIP-seq
MIRT1979892	hsa-miR-1281	CLIP-seq
MIRT945494	hsa-miR-1307	CLIP-seq
MIRT945495	hsa-miR-3135b	CLIP-seq
MIRT945497	hsa-miR-3652	CLIP-seq
MIRT1979893	hsa-miR-3690	CLIP-seq
MIRT1979894	hsa-miR-4254	CLIP-seq
MIRT1979895	hsa-miR-4284	CLIP-seq
MIRT1979896	hsa-miR-4320	CLIP-seq
MIRT945500	hsa-miR-4423-5p	CLIP-seq
MIRT945501	hsa-miR-4430	CLIP-seq
MIRT945502	hsa-miR-4638-5p	CLIP-seq
MIRT1979897	hsa-miR-4772-3p	CLIP-seq
MIRT1979898	hsa-miR-498	CLIP-seq
MIRT1979899	hsa-miR-548n	CLIP-seq
MIRT945493	hsa-miR-122	CLIP-seq
MIRT2215106	hsa-miR-1266	CLIP-seq
MIRT945494	hsa-miR-1307	CLIP-seq
MIRT2215107	hsa-miR-3127-5p	CLIP-seq
MIRT945495	hsa-miR-3135b	CLIP-seq
MIRT945497	hsa-miR-3652	CLIP-seq
MIRT945498	hsa-miR-3688-5p	CLIP-seq
MIRT2215108	hsa-miR-3918	CLIP-seq
MIRT945500	hsa-miR-4423-5p	CLIP-seq
MIRT945501	hsa-miR-4430	CLIP-seq
MIRT2215109	hsa-miR-4446-3p	CLIP-seq
MIRT2215110	hsa-miR-4518	CLIP-seq
MIRT2215111	hsa-miR-4535	CLIP-seq
MIRT945502	hsa-miR-4638-5p	CLIP-seq
MIRT2215112	hsa-miR-492	CLIP-seq
MIRT1979892	hsa-miR-1281	CLIP-seq
MIRT2448523	hsa-miR-1976	CLIP-seq
MIRT1979893	hsa-miR-3690	CLIP-seq
MIRT1979894	hsa-miR-4254	CLIP-seq
MIRT2448524	hsa-miR-4279	CLIP-seq
MIRT1979896	hsa-miR-4320	CLIP-seq
MIRT2448525	hsa-miR-4722-3p	CLIP-seq
MIRT1979898	hsa-miR-498	CLIP-seq
MIRT945493	hsa-miR-122	CLIP-seq
MIRT2465188	hsa-miR-139-3p	CLIP-seq
MIRT945495	hsa-miR-3135b	CLIP-seq
MIRT945497	hsa-miR-3652	CLIP-seq
MIRT945500	hsa-miR-4423-5p	CLIP-seq
MIRT945501	hsa-miR-4430	CLIP-seq
MIRT945493	hsa-miR-122	CLIP-seq
MIRT1979892	hsa-miR-1281	CLIP-seq
MIRT2465188	hsa-miR-139-3p	CLIP-seq
MIRT2448523	hsa-miR-1976	CLIP-seq
MIRT945495	hsa-miR-3135b	CLIP-seq
MIRT945497	hsa-miR-3652	CLIP-seq
MIRT945498	hsa-miR-3688-5p	CLIP-seq
MIRT1979893	hsa-miR-3690	CLIP-seq
MIRT1979894	hsa-miR-4254	CLIP-seq
MIRT2448524	hsa-miR-4279	CLIP-seq
MIRT1979896	hsa-miR-4320	CLIP-seq
MIRT945500	hsa-miR-4423-5p	CLIP-seq
MIRT945501	hsa-miR-4430	CLIP-seq
MIRT2448525	hsa-miR-4722-3p	CLIP-seq
MIRT1979898	hsa-miR-498	CLIP-seq
MIRT945493	hsa-miR-122	CLIP-seq
MIRT1979892	hsa-miR-1281	CLIP-seq
MIRT2448523	hsa-miR-1976	CLIP-seq
MIRT945495	hsa-miR-3135b	CLIP-seq
MIRT945497	hsa-miR-3652	CLIP-seq
MIRT945498	hsa-miR-3688-5p	CLIP-seq
MIRT1979893	hsa-miR-3690	CLIP-seq
MIRT1979894	hsa-miR-4254	CLIP-seq
MIRT2448524	hsa-miR-4279	CLIP-seq
MIRT1979896	hsa-miR-4320	CLIP-seq
MIRT945500	hsa-miR-4423-5p	CLIP-seq
MIRT945501	hsa-miR-4430	CLIP-seq
MIRT2448525	hsa-miR-4722-3p	CLIP-seq
MIRT1979898	hsa-miR-498	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0001533	Component	Cornified envelope	TAS
GO:0002160	Process	Desmosome maintenance	IEA
GO:0002160	Process	Desmosome maintenance	ISS
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	19136012
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005921	Component	Gap junction	TAS	7679953
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7679953
GO:0030054	Component	Cell junction	IEA
GO:0030057	Component	Desmosome	IBA
GO:0030057	Component	Desmosome	IEA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0031069	Process	Hair follicle morphogenesis	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	ISS
GO:0061436	Process	Establishment of skin barrier	IEA
GO:0061436	Process	Establishment of skin barrier	ISS
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070161	Component	Anchoring junction	IEA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

MIM	HGNC	e!Ensembl
125643	3035	ENSG00000134765

Q08554

Protein name

Desmocollin-1 (Cadherin family member 1) (Desmosomal glycoprotein 2/3) (DG2/DG3)

Protein function

A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (By similarity). Required for desmosome adhesion strength between the granular layers of the epidermis, as a result moderates epidermal

PDB

5IRY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08758	Cadherin_pro	27 → 111	Cadherin prodomain like	Domain
PF00028	Cadherin	139 → 233	Cadherin domain	Domain
PF00028	Cadherin	247 → 345	Cadherin domain	Domain
PF00028	Cadherin	359 → 463	Cadherin domain	Domain
PF00028	Cadherin	476 → 568	Cadherin domain	Domain
PF01049	Cadherin_C	716 → 894	Cadherin cytoplasmic region	Family

Tissue specificity

TISSUE SPECIFICITY: Strongly expressed in epidermis, less in lymph node and tongue. {ECO:0000269|PubMed:1713860}.

Sequence

MALASAAPGSIFCKQLLFSLLVLTLLCDACQKVYLRVPSHLQAETLVGKVNLEECLKSAS
LIRSSDPAFRILEDGSIYTTHDLILSSERKSFSIFLSDGQRREQQEIKVVLSARENKSPK
KRHTKDTALKRSKRRWAPIPASLMENSLGPFPQHVQQIQSDAAQNYTIFYSISGPGVDKE
PFNLFYIEKDTGDIFCTRSIDREKYEQFALYGYATTADGYAPEYPLPLIIKIEDDNDNAP
YFEHRVTIFTVPENCRSGTSVGKVTATDLDEPDTLHTRLKYKILQQIPDHPKHFSIHPDT
GVITTTTPFLDREKCDTYQLIMEVRDMGGQPFGLFNTGTITISLEDENDNPPSFTETSYV
TEVEENRIDVEILRMKVQDQDLPNTPHSKAVYKILQGNENGNFIISTDPNTNEGVLCVVK
PLNYEVNRQVILQVGVINEAQFSKAASSQTPTMCTTTVTVKIIDSDEGPECHPPVKVIQS
QDGFPAGQELLGYKALDPEISSGEGLRYQKLGDEDNWFEINQHTGDLRTLKVLDRESKFV
KNNQYNISVVAVDAVGRSCTGTLVVHLDDYNDHAPQIDKEVTICQNNEDFAVLKPVDPDG
PENGPPFQFFLDNSASKNWNIEEKDGKTAILRQRQNLDYNYYSVPIQIKDRHGLVATHML
TVRVCDCSTPSECRMKDKSTRDVRPNVILGRWAILAMVLGSVLLLCILFTCFCVTAKRTV
KKCFPEDIAQQNLIVSNTEGPGEEVTEANIRLPMQTSNICDTSMSVGTVGGQGIKTQQSF
EMVKGGYTLDSNKGGGHQTLESVKGVGQGDTGRYAYTDWQSFTQPRLGEKVYLCGQDEEH
KHCEDYVCSYNYEGKGSLAGSVGCCSDRQEEEGLEFLDHLEPKFRTLAKTCIKK

Sequence length

894

Interactions

View interactions

	Reactome
			Neutrophil degranulation Keratinization Formation of the cornified envelope

DSC1 (desmocollin 1)