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DSC1 (desmocollin 1)

Gene

1823

Desmocollin 1

DSC1

CDHF1, DG2/DG3

18q12.1

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

Show/Hide all(86)

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

Show/Hide all(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	TAS
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	19136012
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IBA	21873635
GO:0005921	Component	Gap junction	TAS	7679953
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0016020	Component	Membrane	TAS	7679953
GO:0016021	Component	Integral component of membrane	IEA
GO:0030057	Component	Desmosome	IBA	21873635
GO:0031424	Process	Keratinization	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070268	Process	Cornification	TAS
GO:0098609	Process	Cell-cell adhesion	IBA	21873635
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

MIM	HGNC	e!Ensembl
125643	3035	ENSG00000134765

Protein

UniProt ID

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

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

Associated diseases

Show/Hide Causal Diseases (1)

Causal
Disease name	Disease term	dbSNP ID	References
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	22197931

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