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Protein

Desmocollin-3

Gene

DSC3

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.

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • gamma-catenin binding Source: BHF-UCL

GO - Biological processi

  • cell adhesion Source: ProtInc
  • homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
  • protein stabilization Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Desmocollin-3
Alternative name(s):
Cadherin family member 3
Desmocollin-4
HT-CP
Gene namesi
Name:DSC3
Synonyms:CDHF3, DSC4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:3037. DSC3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini136 – 690555ExtracellularSequence analysisAdd
BLAST
Transmembranei691 – 71121HelicalSequence analysisAdd
BLAST
Topological domaini712 – 896185CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Hypotrichosis and recurrent skin vesicles (HRSV)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent.
See also OMIM:613102

Keywords - Diseasei

Hypotrichosis

Organism-specific databases

MalaCardsiDSC3.
MIMi613102. phenotype.
Orphaneti217407. Hereditary hypotrichosis with recurrent skin vesicles.
PharmGKBiPA164741482.

Polymorphism and mutation databases

BioMutaiDSC3.
DMDMi116241342.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2727Sequence analysisAdd
BLAST
Propeptidei28 – 135108Sequence analysisPRO_0000003875Add
BLAST
Chaini136 – 896761Desmocollin-3PRO_0000003876Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi166 – 1661N-linked (GlcNAc...)Sequence analysis
Glycosylationi392 – 3921N-linked (GlcNAc...)Sequence analysis
Glycosylationi546 – 5461N-linked (GlcNAc...)Sequence analysis
Glycosylationi629 – 6291N-linked (GlcNAc...)Sequence analysis
Modified residuei859 – 8591PhosphoserineBy similarity
Modified residuei863 – 8631PhosphoserineBy similarity
Modified residuei868 – 8681PhosphoserineBy similarity

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ14574.
MaxQBiQ14574.
PaxDbiQ14574.
PRIDEiQ14574.
TopDownProteomicsiQ14574-1. [Q14574-1]

PTM databases

iPTMnetiQ14574.
PhosphoSiteiQ14574.
SwissPalmiQ14574.

Expressioni

Tissue specificityi

Epidermis, buccal mucosa, esophagus and cervix.

Gene expression databases

BgeeiQ14574.
CleanExiHS_DSC3.
ExpressionAtlasiQ14574. baseline and differential.
GenevisibleiQ14574. HS.

Organism-specific databases

HPAiCAB037328.
HPA049265.

Interactioni

GO - Molecular functioni

  • gamma-catenin binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi108159. 10 interactions.
IntActiQ14574. 1 interaction.
STRINGi9606.ENSP00000353608.

Structurei

3D structure databases

ProteinModelPortaliQ14574.
SMRiQ14574. Positions 137-669.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini136 – 243108Cadherin 1PROSITE-ProRule annotationAdd
BLAST
Domaini244 – 355112Cadherin 2PROSITE-ProRule annotationAdd
BLAST
Domaini356 – 471116Cadherin 3PROSITE-ProRule annotationAdd
BLAST
Domaini472 – 579108Cadherin 4PROSITE-ProRule annotationAdd
BLAST
Domaini580 – 690111Cadherin 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

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00760000118906.
HOGENOMiHOG000231253.
HOVERGENiHBG102801.
InParanoidiQ14574.
KOiK07602.
OMAiLHDPKGW.
OrthoDBiEOG74BJR7.
PhylomeDBiQ14574.
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 3A (identifier: Q14574-1) [UniParc]FASTAAdd to basket

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
MAAAGPRRSV RGAVCLHLLL TLVIFSRAGE ACKKVILNVP SKLEADKIIG
60 70 80 90 100
RVNLEECFRS ADLIRSSDPD FRVLNDGSVY TARAVALSDK KRSFTIWLSD
110 120 130 140 150
KRKQTQKEVT VLLEHQKKVS KTRHTRETVL RRAKRRWAPI PCSMQENSLG
160 170 180 190 200
PFPLFLQQVE SDAAQNYTVF YSISGRGVDK EPLNLFYIER DTGNLFCTRP
210 220 230 240 250
VDREEYDVFD LIAYASTADG YSADLPLPLP IRVEDENDNH PVFTEAIYNF
260 270 280 290 300
EVLESSRPGT TVGVVCATDR DEPDTMHTRL KYSILQQTPR SPGLFSVHPS
310 320 330 340 350
TGVITTVSHY LDREVVDKYS LIMKVQDMDG QFFGLIGTST CIITVTDSND
360 370 380 390 400
NAPTFRQNAY EAFVEENAFN VEILRIPIED KDLINTANWR VNFTILKGNE
410 420 430 440 450
NGHFKISTDK ETNEGVLSVV KPLNYEENRQ VNLEIGVNNE APFARDIPRV
460 470 480 490 500
TALNRALVTV HVRDLDEGPE CTPAAQYVRI KENLAVGSKI NGYKAYDPEN
510 520 530 540 550
RNGNGLRYKK LHDPKGWITI DEISGSIITS KILDREVETP KNELYNITVL
560 570 580 590 600
AIDKDDRSCT GTLAVNIEDV NDNPPEILQE YVVICKPKMG YTDILAVDPD
610 620 630 640 650
EPVHGAPFYF SLPNTSPEIS RLWSLTKVND TAARLSYQKN AGFQEYTIPI
660 670 680 690 700
TVKDRAGQAA TKLLRVNLCE CTHPTQCRAT SRSTGVILGK WAILAILLGI
710 720 730 740 750
ALLFSVLLTL VCGVFGATKG KRFPEDLAQQ NLIISNTEAP GDDRVCSANG
760 770 780 790 800
FMTQTTNNSS QGFCGTMGSG MKNGGQETIE MMKGGNQTLE SCRGAGHHHT
810 820 830 840 850
LDSCRGGHTE VDNCRYTYSE WHSFTQPRLG EKLHRCNQNE DRMPSQDYVL
860 870 880 890
TYNYEGRGSP AGSVGCCSEK QEEDGLDFLN NLEPKFITLA EACTKR
Length:896
Mass (Da):99,969
Last modified:October 17, 2006 - v3
Checksum:i6685B0A8B4C1ED85
GO
Isoform 3B (identifier: Q14574-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     832-839: KLHRCNQN → ESIRGHTG
     840-896: Missing.

Show »
Length:839
Mass (Da):93,454
Checksum:i2C6F1C1FDE7A1350
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti28 – 281A → D.2 Publications
Corresponds to variant rs2852003 [ dbSNP | Ensembl ].
VAR_048515
Natural varianti78 – 781S → T.
Corresponds to variant rs276937 [ dbSNP | Ensembl ].
VAR_048516
Natural varianti102 – 1021R → K.
Corresponds to variant rs276938 [ dbSNP | Ensembl ].
VAR_048517
Natural varianti180 – 1801K → Q.
Corresponds to variant rs35296997 [ dbSNP | Ensembl ].
VAR_048518
Natural varianti199 – 1991R → W.
Corresponds to variant rs276921 [ dbSNP | Ensembl ].
VAR_048519
Natural varianti239 – 2391N → S.
Corresponds to variant rs35630063 [ dbSNP | Ensembl ].
VAR_048520

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei832 – 8398KLHRCNQN → ESIRGHTG in isoform 3B. CuratedVSP_000663
Alternative sequencei840 – 89657Missing in isoform 3B. CuratedVSP_000664Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D17427 mRNA. Translation: BAA04249.1.
X83929 mRNA. Translation: CAA58781.1.
AF293359 Genomic DNA. Translation: AAG23426.1.
AF293359 Genomic DNA. Translation: AAG23427.1.
AC025212 Genomic DNA. No translation available.
CCDSiCCDS32810.1. [Q14574-1]
PIRiA55363.
RefSeqiNP_001932.2. NM_001941.4. [Q14574-1]
NP_077741.2. NM_024423.3. [Q14574-2]
UniGeneiHs.41690.

Genome annotation databases

EnsembliENST00000360428; ENSP00000353608; ENSG00000134762. [Q14574-1]
ENST00000434452; ENSP00000392068; ENSG00000134762. [Q14574-2]
GeneIDi1825.
KEGGihsa:1825.
UCSCiuc002kwi.4. human. [Q14574-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D17427 mRNA. Translation: BAA04249.1.
X83929 mRNA. Translation: CAA58781.1.
AF293359 Genomic DNA. Translation: AAG23426.1.
AF293359 Genomic DNA. Translation: AAG23427.1.
AC025212 Genomic DNA. No translation available.
CCDSiCCDS32810.1. [Q14574-1]
PIRiA55363.
RefSeqiNP_001932.2. NM_001941.4. [Q14574-1]
NP_077741.2. NM_024423.3. [Q14574-2]
UniGeneiHs.41690.

3D structure databases

ProteinModelPortaliQ14574.
SMRiQ14574. Positions 137-669.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108159. 10 interactions.
IntActiQ14574. 1 interaction.
STRINGi9606.ENSP00000353608.

PTM databases

iPTMnetiQ14574.
PhosphoSiteiQ14574.
SwissPalmiQ14574.

Polymorphism and mutation databases

BioMutaiDSC3.
DMDMi116241342.

Proteomic databases

EPDiQ14574.
MaxQBiQ14574.
PaxDbiQ14574.
PRIDEiQ14574.
TopDownProteomicsiQ14574-1. [Q14574-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360428; ENSP00000353608; ENSG00000134762. [Q14574-1]
ENST00000434452; ENSP00000392068; ENSG00000134762. [Q14574-2]
GeneIDi1825.
KEGGihsa:1825.
UCSCiuc002kwi.4. human. [Q14574-1]

Organism-specific databases

CTDi1825.
GeneCardsiDSC3.
HGNCiHGNC:3037. DSC3.
HPAiCAB037328.
HPA049265.
MalaCardsiDSC3.
MIMi600271. gene.
613102. phenotype.
neXtProtiNX_Q14574.
Orphaneti217407. Hereditary hypotrichosis with recurrent skin vesicles.
PharmGKBiPA164741482.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00760000118906.
HOGENOMiHOG000231253.
HOVERGENiHBG102801.
InParanoidiQ14574.
KOiK07602.
OMAiLHDPKGW.
OrthoDBiEOG74BJR7.
PhylomeDBiQ14574.
TreeFamiTF316817.

Miscellaneous databases

ChiTaRSiDSC3. human.
GeneWikiiDSC3.
GenomeRNAii1825.
PROiQ14574.
SOURCEiSearch...

Gene expression databases

BgeeiQ14574.
CleanExiHS_DSC3.
ExpressionAtlasiQ14574. baseline and differential.
GenevisibleiQ14574. 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...

Publicationsi

« Hide 'large scale' publications
  1. "cDNA cloning and expression of a novel human desmocollin."
    Kawamura K., Watanabe K., Suzuki T., Yamakawa T., Kamiyama T., Nakagawa H., Tsurufuji S.
    J. Biol. Chem. 269:26295-26302(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3A), PARTIAL PROTEIN SEQUENCE.
    Tissue: Urinary bladder carcinoma.
  2. "The desmocollins of human foreskin epidermis: identification and chromosomal assignment of a third gene and expression patterns of the three isoforms."
    King I.A., Sullivan K.H., Bennett R. Jr., Buxton R.S.
    J. Invest. Dermatol. 105:314-321(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3A), VARIANT ASP-28.
    Tissue: Foreskin and Keratinocyte.
  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] (ISOFORMS 3A AND 3B), VARIANT ASP-28.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles."
    Ayub M., Basit S., Jelani M., Ur Rehman F., Iqbal M., Yasinzai M., Ahmad W.
    Am. J. Hum. Genet. 85:515-520(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN HRSV.

Entry informationi

Entry nameiDSC3_HUMAN
AccessioniPrimary (citable) accession number: Q14574
Secondary accession number(s): A6NN35, Q14200, Q9HAZ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 17, 2006
Last modified: June 8, 2016
This is version 147 of the entry and version 3 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

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.