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Q08554

- DSC1_HUMAN

UniProt

Q08554 - DSC1_HUMAN

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Protein

Desmocollin-1

Gene

DSC1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. calcium ion binding Source: InterPro

GO - Biological processi

  1. homophilic cell adhesion Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium, Metal-binding

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
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:3035. DSC1.

Subcellular locationi

GO - Cellular componenti

  1. desmosome Source: Ensembl
  2. extracellular vesicular exosome Source: UniProtKB
  3. gap junction Source: ProtInc
  4. integral component of membrane Source: UniProtKB-KW
  5. membrane Source: ProtInc
  6. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27488.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2929Sequence AnalysisAdd
BLAST
Propeptidei30 – 134105Sequence AnalysisPRO_0000003863Add
BLAST
Chaini135 – 894760Desmocollin-1PRO_0000003864Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi165 – 1651N-linked (GlcNAc...)Sequence Analysis
Modified residuei385 – 3851Phosphothreonine1 Publication
Glycosylationi546 – 5461N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ08554.
PaxDbiQ08554.
PRIDEiQ08554.

PTM databases

PhosphoSiteiQ08554.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ08554.
CleanExiHS_DSC1.
ExpressionAtlasiQ08554. baseline and differential.
GenevestigatoriQ08554.

Organism-specific databases

HPAiHPA012891.

Interactioni

Subunit structurei

Binds to JUP/plakoglobin.

Protein-protein interaction databases

BioGridi108157. 23 interactions.
IntActiQ08554. 5 interactions.
STRINGi9606.ENSP00000257198.

Structurei

3D structure databases

ProteinModelPortaliQ08554.
SMRiQ08554. Positions 136-667.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini135 – 691557ExtracellularSequence AnalysisAdd
BLAST
Topological domaini715 – 894180CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei692 – 71423HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini135 – 242108Cadherin 1PROSITE-ProRule annotationAdd
BLAST
Domaini243 – 354112Cadherin 2PROSITE-ProRule annotationAdd
BLAST
Domaini355 – 471117Cadherin 3PROSITE-ProRule annotationAdd
BLAST
Domaini472 – 575104Cadherin 4PROSITE-ProRule annotationAdd
BLAST
Domaini576 – 682107Cadherin 5PROSITE-ProRule annotationAdd
BLAST

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

eggNOGiNOG304955.
GeneTreeiENSGT00760000118906.
HOGENOMiHOG000231253.
HOVERGENiHBG102801.
InParanoidiQ08554.
KOiK07600.
OMAiIKDRHGL.
OrthoDBiEOG74BJR7.
PhylomeDBiQ08554.
TreeFamiTF316817.

Family and domain databases

Gene3Di2.60.40.60. 6 hits.
4.10.900.10. 1 hit.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR009124. Cadherin/Desmocollin.
IPR020894. Cadherin_CS.
IPR000233. Cadherin_cytoplasmic-dom.
IPR014868. Cadherin_pro_dom.
IPR027397. Catenin_binding_dom.
IPR009122. Desmosomal_cadherin.
[Graphical view]
PANTHERiPTHR24025. PTHR24025. 1 hit.
PfamiPF00028. Cadherin. 4 hits.
PF01049. Cadherin_C. 1 hit.
PF08758. Cadherin_pro. 1 hit.
[Graphical view]
PRINTSiPR00205. CADHERIN.
PR01818. DESMOCADHERN.
PR01820. DESMOCOLLIN.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti132 – 1321S → T in CAA84278. (PubMed:8507556)Curated
Sequence conflicti132 – 1321S → T in CAA84279. (PubMed:8507556)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti93 – 931S → F.
Corresponds to variant rs35338395 [ dbSNP | Ensembl ].
VAR_061059
Natural varianti460 – 4601V → I.
Corresponds to variant rs17800159 [ dbSNP | Ensembl ].
VAR_055579
Natural varianti848 – 8481C → F.1 Publication
Corresponds to variant rs985861 [ dbSNP | Ensembl ].
VAR_055580

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei830 – 84011KVYLCGQDEEH → ESIRGHTLIKN in isoform 1B. 2 PublicationsVSP_000651Add
BLAST
Alternative sequencei841 – 89454Missing in isoform 1B. 2 PublicationsVSP_000652Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [Q08554-1]

Polymorphism databases

DMDMi223590198.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS11894.1. [Q08554-1 ]
CCDS11895.1. [Q08554-2 ]
PIRi A48910.
I37281.
I37282.
RefSeqi NP_004939.1. NM_004948.3. [Q08554-2 ]
NP_077739.1. NM_024421.2. [Q08554-1 ]
UniGenei Hs.567260.

3D structure databases

ProteinModelPortali Q08554.
SMRi Q08554. Positions 136-667.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108157. 23 interactions.
IntActi Q08554. 5 interactions.
STRINGi 9606.ENSP00000257198.

PTM databases

PhosphoSitei Q08554.

Polymorphism databases

DMDMi 223590198.

Proteomic databases

MaxQBi Q08554.
PaxDbi Q08554.
PRIDEi Q08554.

Protocols and materials databases

DNASUi 1823.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000257197 ; ENSP00000257197 ; ENSG00000134765 . [Q08554-2 ]
ENST00000257198 ; ENSP00000257198 ; ENSG00000134765 . [Q08554-1 ]
GeneIDi 1823.
KEGGi hsa:1823.
UCSCi uc002kwn.3. human. [Q08554-1 ]

Organism-specific databases

CTDi 1823.
GeneCardsi GC18M028732.
H-InvDB HIX0039739.
HGNCi HGNC:3035. DSC1.
HPAi HPA012891.
MIMi 125643. gene.
neXtProti NX_Q08554.
PharmGKBi PA27488.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG304955.
GeneTreei ENSGT00760000118906.
HOGENOMi HOG000231253.
HOVERGENi HBG102801.
InParanoidi Q08554.
KOi K07600.
OMAi IKDRHGL.
OrthoDBi EOG74BJR7.
PhylomeDBi Q08554.
TreeFami TF316817.

Miscellaneous databases

GeneWikii DSC1.
GenomeRNAii 1823.
NextBioi 7431.
PROi Q08554.
SOURCEi Search...

Gene expression databases

Bgeei Q08554.
CleanExi HS_DSC1.
ExpressionAtlasi Q08554. baseline and differential.
Genevestigatori Q08554.

Family and domain databases

Gene3Di 2.60.40.60. 6 hits.
4.10.900.10. 1 hit.
InterProi IPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR009124. Cadherin/Desmocollin.
IPR020894. Cadherin_CS.
IPR000233. Cadherin_cytoplasmic-dom.
IPR014868. Cadherin_pro_dom.
IPR027397. Catenin_binding_dom.
IPR009122. Desmosomal_cadherin.
[Graphical view ]
PANTHERi PTHR24025. PTHR24025. 1 hit.
Pfami PF00028. Cadherin. 4 hits.
PF01049. Cadherin_C. 1 hit.
PF08758. Cadherin_pro. 1 hit.
[Graphical view ]
PRINTSi PR00205. CADHERIN.
PR01818. DESMOCADHERN.
PR01820. DESMOCOLLIN.
SMARTi SM00112. CA. 5 hits.
SM01055. Cadherin_pro. 1 hit.
[Graphical view ]
SUPFAMi SSF49313. SSF49313. 6 hits.
PROSITEi PS00232. CADHERIN_1. 3 hits.
PS50268. CADHERIN_2. 5 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Differential synthesis of type 1 and type 2 desmocollin mRNAs in human stratified epithelia."
    Theis D.G., Koch P.J., Franke W.W.
    Int. J. Dev. Biol. 37:101-110(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A AND 1B), VARIANT PHE-848.
    Tissue: Foreskin.
  2. "Cloning of the cDNA (DSC1) coding for human type 1 desmocollin and its assignment to chromosome 18."
    King I.A., Arnemann J., Spurr N.K., Buxton R.S.
    Genomics 18:185-194(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A AND 1B).
    Tissue: Skin.
  3. "Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3."
    Whittock N.V., Hunt D.M., Rickman L., Malhi S., Vogazianou A.P., Dawson L.F., Eady R.A.J., Buxton R.S., McGrath J.A.
    Biochem. Biophys. Res. Commun. 276:454-460(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "Keratinization is associated with the expression of a new protein related to the desmosomal cadherins DGII/III."
    King I.A., Magee A.I., Rees D.A., Buxton R.S.
    FEBS Lett. 286:9-12(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 135-151 AND 283-292.
  6. "Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line."
    Giorgianni F., Zhao Y., Desiderio D.M., Beranova-Giorgianni S.
    Electrophoresis 28:2027-2034(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-385, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Prostate cancer.
  7. "Interactions of plakoglobin and beta-catenin with desmosomal cadherins: basis of selective exclusion of alpha- and beta-catenin from desmosomes."
    Choi H.J., Gross J.C., Pokutta S., Weis W.I.
    J. Biol. Chem. 284:31776-31788(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH JUP/PLAKOGLOBIN.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

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: October 29, 2014
This is version 131 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

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3