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Protein

Desmocollin-1

Gene

DSC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. Linked to the keratinization of epithelial tissues.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processCell adhesion
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation
R-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope

Names & Taxonomyi

Protein namesi
Recommended name:
Desmocollin-1
Alternative name(s):
Cadherin family member 1
Desmosomal glycoprotein 2/3
Short name:
DG2/DG3
Gene namesi
Name:DSC1
Synonyms:CDHF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000134765.9
HGNCiHGNC:3035 DSC1
MIMi125643 gene
neXtProtiNX_Q08554

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini135 – 691ExtracellularSequence analysisAdd BLAST557
Transmembranei692 – 714HelicalSequence analysisAdd BLAST23
Topological domaini715 – 894CytoplasmicSequence analysisAdd BLAST180

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi1823
OpenTargetsiENSG00000134765
PharmGKBiPA27488

Polymorphism and mutation databases

BioMutaiDSC1
DMDMi223590198

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 29Sequence analysisAdd BLAST29
PropeptideiPRO_000000386330 – 134Sequence analysisAdd BLAST105
ChainiPRO_0000003864135 – 894Desmocollin-1Add BLAST760

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi165N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei385PhosphothreonineCombined sources1
Glycosylationi546N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ08554
MaxQBiQ08554
PaxDbiQ08554
PeptideAtlasiQ08554
PRIDEiQ08554
ProteomicsDBi58632
58633 [Q08554-2]

PTM databases

iPTMnetiQ08554
PhosphoSitePlusiQ08554

Expressioni

Tissue specificityi

Strongly expressed in epidermis, less in lymph node and tongue.

Gene expression databases

BgeeiENSG00000134765 Expressed in 65 organ(s), highest expression level in upper arm skin
CleanExiHS_DSC1
ExpressionAtlasiQ08554 baseline and differential
GenevisibleiQ08554 HS

Organism-specific databases

HPAiHPA075379

Interactioni

Subunit structurei

Binds to JUP/plakoglobin.

Protein-protein interaction databases

BioGridi108157, 34 interactors
IntActiQ08554, 11 interactors
STRINGi9606.ENSP00000257198

Structurei

Secondary structure

1894
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ08554
SMRiQ08554
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini135 – 242Cadherin 1PROSITE-ProRule annotationAdd BLAST108
Domaini243 – 354Cadherin 2PROSITE-ProRule annotationAdd BLAST112
Domaini355 – 471Cadherin 3PROSITE-ProRule annotationAdd BLAST117
Domaini472 – 575Cadherin 4PROSITE-ProRule annotationAdd BLAST104
Domaini576 – 682Cadherin 5PROSITE-ProRule annotationAdd BLAST107

Domaini

Calcium may be bound by the cadherin-like repeats.Curated
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

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00760000118906
HOGENOMiHOG000231253
HOVERGENiHBG102801
InParanoidiQ08554
KOiK07600
OMAiYEVNRQV
OrthoDBiEOG091G01IB
PhylomeDBiQ08554
TreeFamiTF316817

Family and domain databases

Gene3Di4.10.900.10, 1 hit
InterProiView protein in InterPro
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR020894 Cadherin_CS
IPR000233 Cadherin_cytoplasmic-dom
IPR014868 Cadherin_pro_dom
IPR027397 Catenin_binding_dom_sf
IPR009122 Desmosomal_cadherin
PANTHERiPTHR24025 PTHR24025, 1 hit
PfamiView protein in Pfam
PF00028 Cadherin, 4 hits
PF01049 Cadherin_C, 1 hit
PF08758 Cadherin_pro, 1 hit
PRINTSiPR00205 CADHERIN
PR01818 DESMOCADHERN
SMARTiView protein in SMART
SM00112 CA, 5 hits
SM01055 Cadherin_pro, 1 hit
SUPFAMiSSF49313 SSF49313, 6 hits
PROSITEiView protein in PROSITE
PS00232 CADHERIN_1, 3 hits
PS50268 CADHERIN_2, 5 hits

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1A (identifier: Q08554-1) [UniParc]FASTAAdd to basket
Also known as: DG2

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MALASAAPGS IFCKQLLFSL LVLTLLCDAC QKVYLRVPSH LQAETLVGKV
60 70 80 90 100
NLEECLKSAS LIRSSDPAFR ILEDGSIYTT HDLILSSERK SFSIFLSDGQ
110 120 130 140 150
RREQQEIKVV LSARENKSPK KRHTKDTALK RSKRRWAPIP ASLMENSLGP
160 170 180 190 200
FPQHVQQIQS DAAQNYTIFY SISGPGVDKE PFNLFYIEKD TGDIFCTRSI
210 220 230 240 250
DREKYEQFAL YGYATTADGY APEYPLPLII KIEDDNDNAP YFEHRVTIFT
260 270 280 290 300
VPENCRSGTS VGKVTATDLD EPDTLHTRLK YKILQQIPDH PKHFSIHPDT
310 320 330 340 350
GVITTTTPFL DREKCDTYQL IMEVRDMGGQ PFGLFNTGTI TISLEDENDN
360 370 380 390 400
PPSFTETSYV TEVEENRIDV EILRMKVQDQ DLPNTPHSKA VYKILQGNEN
410 420 430 440 450
GNFIISTDPN TNEGVLCVVK PLNYEVNRQV ILQVGVINEA QFSKAASSQT
460 470 480 490 500
PTMCTTTVTV KIIDSDEGPE CHPPVKVIQS QDGFPAGQEL LGYKALDPEI
510 520 530 540 550
SSGEGLRYQK LGDEDNWFEI NQHTGDLRTL KVLDRESKFV KNNQYNISVV
560 570 580 590 600
AVDAVGRSCT GTLVVHLDDY NDHAPQIDKE VTICQNNEDF AVLKPVDPDG
610 620 630 640 650
PENGPPFQFF LDNSASKNWN IEEKDGKTAI LRQRQNLDYN YYSVPIQIKD
660 670 680 690 700
RHGLVATHML TVRVCDCSTP SECRMKDKST RDVRPNVILG RWAILAMVLG
710 720 730 740 750
SVLLLCILFT CFCVTAKRTV KKCFPEDIAQ QNLIVSNTEG PGEEVTEANI
760 770 780 790 800
RLPMQTSNIC DTSMSVGTVG GQGIKTQQSF EMVKGGYTLD SNKGGGHQTL
810 820 830 840 850
ESVKGVGQGD TGRYAYTDWQ SFTQPRLGEK VYLCGQDEEH KHCEDYVCSY
860 870 880 890
NYEGKGSLAG SVGCCSDRQE EEGLEFLDHL EPKFRTLAKT CIKK
Length:894
Mass (Da):99,987
Last modified:February 10, 2009 - v2
Checksum:i2E0C835F6FE2E77F
GO
Isoform 1B (identifier: Q08554-2) [UniParc]FASTAAdd to basket
Also known as: DG3

The sequence of this isoform differs from the canonical sequence as follows:
     830-840: KVYLCGQDEEH → ESIRGHTLIKN
     841-894: Missing.

Show »
Length:840
Mass (Da):93,835
Checksum:iDF66432C933CC9D1
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti132S → T in CAA84278 (PubMed:8507556).Curated1
Sequence conflicti132S → T in CAA84279 (PubMed:8507556).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06105993S → F. Corresponds to variant dbSNP:rs35338395Ensembl.1
Natural variantiVAR_055579460V → I. Corresponds to variant dbSNP:rs17800159Ensembl.1
Natural variantiVAR_055580848C → F1 PublicationCorresponds to variant dbSNP:rs985861Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_000651830 – 840KVYLCGQDEEH → ESIRGHTLIKN in isoform 1B. 2 PublicationsAdd BLAST11
Alternative sequenceiVSP_000652841 – 894Missing in isoform 1B. 2 PublicationsAdd BLAST54

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z34522 mRNA Translation: CAA84279.1
Z34522 mRNA Translation: CAA84278.1
X72925 mRNA Translation: CAA51428.1
X72925 mRNA Translation: CAA51429.1
AF293358 Genomic DNA Translation: AAG23424.1
CH471088 Genomic DNA Translation: EAX01252.1
CCDSiCCDS11894.1 [Q08554-1]
CCDS11895.1 [Q08554-2]
PIRiA48910
I37281
I37282
RefSeqiNP_004939.1, NM_004948.3 [Q08554-2]
NP_077739.1, NM_024421.2 [Q08554-1]
UniGeneiHs.567260

Genome annotation databases

EnsembliENST00000257197; ENSP00000257197; ENSG00000134765 [Q08554-2]
ENST00000257198; ENSP00000257198; ENSG00000134765 [Q08554-1]
GeneIDi1823
KEGGihsa:1823
UCSCiuc002kwn.4 human [Q08554-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z34522 mRNA Translation: CAA84279.1
Z34522 mRNA Translation: CAA84278.1
X72925 mRNA Translation: CAA51428.1
X72925 mRNA Translation: CAA51429.1
AF293358 Genomic DNA Translation: AAG23424.1
CH471088 Genomic DNA Translation: EAX01252.1
CCDSiCCDS11894.1 [Q08554-1]
CCDS11895.1 [Q08554-2]
PIRiA48910
I37281
I37282
RefSeqiNP_004939.1, NM_004948.3 [Q08554-2]
NP_077739.1, NM_024421.2 [Q08554-1]
UniGeneiHs.567260

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5IRYX-ray3.10A/B135-676[»]
ProteinModelPortaliQ08554
SMRiQ08554
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108157, 34 interactors
IntActiQ08554, 11 interactors
STRINGi9606.ENSP00000257198

PTM databases

iPTMnetiQ08554
PhosphoSitePlusiQ08554

Polymorphism and mutation databases

BioMutaiDSC1
DMDMi223590198

Proteomic databases

EPDiQ08554
MaxQBiQ08554
PaxDbiQ08554
PeptideAtlasiQ08554
PRIDEiQ08554
ProteomicsDBi58632
58633 [Q08554-2]

Protocols and materials databases

DNASUi1823
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000257197; ENSP00000257197; ENSG00000134765 [Q08554-2]
ENST00000257198; ENSP00000257198; ENSG00000134765 [Q08554-1]
GeneIDi1823
KEGGihsa:1823
UCSCiuc002kwn.4 human [Q08554-1]

Organism-specific databases

CTDi1823
DisGeNETi1823
EuPathDBiHostDB:ENSG00000134765.9
GeneCardsiDSC1
H-InvDBiHIX0039739
HGNCiHGNC:3035 DSC1
HPAiHPA075379
MIMi125643 gene
neXtProtiNX_Q08554
OpenTargetsiENSG00000134765
PharmGKBiPA27488
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00760000118906
HOGENOMiHOG000231253
HOVERGENiHBG102801
InParanoidiQ08554
KOiK07600
OMAiYEVNRQV
OrthoDBiEOG091G01IB
PhylomeDBiQ08554
TreeFamiTF316817

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation
R-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope

Miscellaneous databases

GeneWikiiDSC1
GenomeRNAii1823
PROiPR:Q08554
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134765 Expressed in 65 organ(s), highest expression level in upper arm skin
CleanExiHS_DSC1
ExpressionAtlasiQ08554 baseline and differential
GenevisibleiQ08554 HS

Family and domain databases

Gene3Di4.10.900.10, 1 hit
InterProiView protein in InterPro
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR020894 Cadherin_CS
IPR000233 Cadherin_cytoplasmic-dom
IPR014868 Cadherin_pro_dom
IPR027397 Catenin_binding_dom_sf
IPR009122 Desmosomal_cadherin
PANTHERiPTHR24025 PTHR24025, 1 hit
PfamiView protein in Pfam
PF00028 Cadherin, 4 hits
PF01049 Cadherin_C, 1 hit
PF08758 Cadherin_pro, 1 hit
PRINTSiPR00205 CADHERIN
PR01818 DESMOCADHERN
SMARTiView protein in SMART
SM00112 CA, 5 hits
SM01055 Cadherin_pro, 1 hit
SUPFAMiSSF49313 SSF49313, 6 hits
PROSITEiView protein in PROSITE
PS00232 CADHERIN_1, 3 hits
PS50268 CADHERIN_2, 5 hits
ProtoNetiSearch...

Entry informationi

Entry nameiDSC1_HUMAN
AccessioniPrimary (citable) accession number: Q08554
Secondary accession number(s): Q9HB01
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 10, 2009
Last modified: November 7, 2018
This is version 162 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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