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Protein

Desmocollin-1

Gene

DSC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134765-MONOMER.
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

HGNCiHGNC:3035. DSC1.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • desmosome Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • gap junction Source: ProtInc
  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: ProtInc
  • plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

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...)Sequence analysis1
Modified residuei385PhosphothreonineCombined sources1
Glycosylationi546N-linked (GlcNAc...)Sequence analysis1
Modified residuei857PhosphoserineBy similarity1
Modified residuei861PhosphoserineBy similarity1
Modified residuei866PhosphoserineBy similarity1

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ08554.
MaxQBiQ08554.
PaxDbiQ08554.
PeptideAtlasiQ08554.
PRIDEiQ08554.

PTM databases

iPTMnetiQ08554.
PhosphoSitePlusiQ08554.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000134765.
CleanExiHS_DSC1.
ExpressionAtlasiQ08554. baseline and differential.
GenevisibleiQ08554. HS.

Organism-specific databases

HPAiHPA012891.

Interactioni

Subunit structurei

Binds to JUP/plakoglobin.

Protein-protein interaction databases

BioGridi108157. 29 interactors.
IntActiQ08554. 8 interactors.
STRINGi9606.ENSP00000257198.

Structurei

Secondary structure

1894
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi141 – 146Combined sources6
Beta strandi150 – 157Combined sources8
Helixi161 – 163Combined sources3
Beta strandi164 – 166Combined sources3
Beta strandi169 – 174Combined sources6
Turni175 – 178Combined sources4
Beta strandi179 – 181Combined sources3
Beta strandi184 – 187Combined sources4
Turni189 – 191Combined sources3
Beta strandi193 – 196Combined sources4
Turni202 – 204Combined sources3
Beta strandi206 – 215Combined sources10
Beta strandi226 – 233Combined sources8
Beta strandi241 – 252Combined sources12
Beta strandi260 – 263Combined sources4
Turni275 – 277Combined sources3
Beta strandi280 – 288Combined sources9
Beta strandi294 – 296Combined sources3
Turni298 – 300Combined sources3
Beta strandi302 – 306Combined sources5
Turni312 – 314Combined sources3
Beta strandi316 – 325Combined sources10
Helixi327 – 329Combined sources3
Beta strandi335 – 345Combined sources11
Beta strandi353 – 366Combined sources14
Beta strandi369 – 375Combined sources7
Beta strandi383 – 385Combined sources3
Turni386 – 388Combined sources3
Beta strandi390 – 397Combined sources8
Beta strandi399 – 401Combined sources3
Beta strandi403 – 407Combined sources5
Turni409 – 411Combined sources3
Beta strandi414 – 418Combined sources5
Turni424 – 426Combined sources3
Beta strandi428 – 440Combined sources13
Beta strandi444 – 450Combined sources7
Beta strandi455 – 463Combined sources9
Beta strandi472 – 481Combined sources10
Beta strandi498 – 500Combined sources3
Beta strandi518 – 520Combined sources3
Turni522 – 524Combined sources3
Beta strandi527 – 529Combined sources3
Beta strandi544 – 549Combined sources6
Beta strandi554 – 556Combined sources3
Beta strandi561 – 568Combined sources8
Beta strandi585 – 587Combined sources3
Beta strandi589 – 593Combined sources5
Beta strandi608 – 611Combined sources4
Turni614 – 618Combined sources5
Beta strandi619 – 622Combined sources4
Beta strandi624 – 627Combined sources4
Beta strandi629 – 633Combined sources5
Beta strandi639 – 649Combined sources11
Beta strandi655 – 664Combined sources10

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...

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

Sequence similaritiesi

Contains 5 cadherin domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

Gene3Di2.60.40.60. 6 hits.
4.10.900.10. 1 hit.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR000233. Cadherin_cytoplasmic-dom.
IPR014868. Cadherin_pro_dom.
IPR027397. Catenin_binding_dom.
IPR009122. Desmosomal_cadherin.
[Graphical view]
PANTHERiPTHR24025. PTHR24025. 2 hits.
PfamiPF00028. Cadherin. 4 hits.
PF01049. Cadherin_C. 1 hit.
PF08758. Cadherin_pro. 1 hit.
[Graphical view]
PRINTSiPR00205. CADHERIN.
PR01818. DESMOCADHERN.
SMARTiSM00112. CA. 5 hits.
SM01055. Cadherin_pro. 1 hit.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 6 hits.
PROSITEiPS00232. CADHERIN_1. 3 hits.
PS50268. CADHERIN_2. 5 hits.
[Graphical view]

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 rs35338395dbSNPEnsembl.1
Natural variantiVAR_055579460V → I.Corresponds to variant rs17800159dbSNPEnsembl.1
Natural variantiVAR_055580848C → F.1 PublicationCorresponds to variant rs985861dbSNPEnsembl.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

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. 29 interactors.
IntActiQ08554. 8 interactors.
STRINGi9606.ENSP00000257198.

PTM databases

iPTMnetiQ08554.
PhosphoSitePlusiQ08554.

Polymorphism and mutation databases

BioMutaiDSC1.
DMDMi223590198.

Proteomic databases

EPDiQ08554.
MaxQBiQ08554.
PaxDbiQ08554.
PeptideAtlasiQ08554.
PRIDEiQ08554.

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.
GeneCardsiDSC1.
H-InvDBHIX0039739.
HGNCiHGNC:3035. DSC1.
HPAiHPA012891.
MIMi125643. gene.
neXtProtiNX_Q08554.
OpenTargetsiENSG00000134765.
PharmGKBiPA27488.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134765-MONOMER.
ReactomeiR-HSA-6798695. Neutrophil degranulation.
R-HSA-6805567. Keratinization.
R-HSA-6809371. Formation of the cornified envelope.

Miscellaneous databases

GeneWikiiDSC1.
GenomeRNAii1823.
PROiQ08554.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134765.
CleanExiHS_DSC1.
ExpressionAtlasiQ08554. baseline and differential.
GenevisibleiQ08554. HS.

Family and domain databases

Gene3Di2.60.40.60. 6 hits.
4.10.900.10. 1 hit.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR000233. Cadherin_cytoplasmic-dom.
IPR014868. Cadherin_pro_dom.
IPR027397. Catenin_binding_dom.
IPR009122. Desmosomal_cadherin.
[Graphical view]
PANTHERiPTHR24025. PTHR24025. 2 hits.
PfamiPF00028. Cadherin. 4 hits.
PF01049. Cadherin_C. 1 hit.
PF08758. Cadherin_pro. 1 hit.
[Graphical view]
PRINTSiPR00205. CADHERIN.
PR01818. DESMOCADHERN.
SMARTiSM00112. CA. 5 hits.
SM01055. Cadherin_pro. 1 hit.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 6 hits.
PROSITEiPS00232. CADHERIN_1. 3 hits.
PS50268. CADHERIN_2. 5 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDSC1_HUMAN
AccessioniPrimary (citable) accession number: Q08554
Secondary accession number(s): Q9HB01
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 10, 2009
Last modified: November 30, 2016
This is version 149 of the entry and version 2 of the sequence. [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 chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.