UniProtKB - Q14574 (DSC3_HUMAN)
Protein
Desmocollin-3
Gene
DSC3
Organism
Homo sapiens (Human)
Status
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: GO_Central
- gamma-catenin binding Source: BHF-UCL
GO - Biological processi
- cell adhesion Source: ProtInc
- cell-cell adhesion Source: GO_Central
- cornification Source: Reactome
- homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
- in utero embryonic development Source: Ensembl
- keratinization Source: Reactome
- protein stabilization Source: BHF-UCL
Keywordsi
Biological process | Cell adhesion |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q14574 |
Reactomei | R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope |
Names & Taxonomyi
Protein namesi | Recommended name: Desmocollin-3Alternative name(s): Cadherin family member 3 Desmocollin-4 HT-CP |
Gene namesi | Name:DSC3 Synonyms:CDHF3, DSC4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3037, DSC3 |
MIMi | 600271, gene |
neXtProti | NX_Q14574 |
VEuPathDBi | HostDB:ENSG00000134762.16 |
Subcellular locationi
Plasma membrane
Other locations
Extracellular region or secreted
- extracellular region Source: Ensembl
Plasma Membrane
- cornified envelope Source: Reactome
- plasma membrane Source: HPA
Other locations
- cell junction Source: HPA
- cell-cell junction Source: GO_Central
- cytoplasm Source: Ensembl
- desmosome Source: GO_Central
- integral component of membrane Source: UniProtKB-KW
- membrane Source: ProtInc
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 136 – 690 | ExtracellularSequence analysisAdd BLAST | 555 | |
Transmembranei | 691 – 711 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 712 – 896 | CytoplasmicSequence analysisAdd BLAST | 185 |
Keywords - Cellular componenti
Cell junction, Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Hypotrichosis and recurrent skin vesicles (HRSV)1 Publication
The disease is caused by variants 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.
Related information in OMIMKeywords - Diseasei
HypotrichosisOrganism-specific databases
DisGeNETi | 1825 |
MalaCardsi | DSC3 |
MIMi | 613102, phenotype |
OpenTargetsi | ENSG00000134762 |
Orphaneti | 217407, Hereditary hypotrichosis with recurrent skin vesicles |
PharmGKBi | PA164741482 |
Miscellaneous databases
Pharosi | Q14574, Tbio |
Genetic variation databases
BioMutai | DSC3 |
DMDMi | 116241342 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 27 | Sequence analysisAdd BLAST | 27 | |
PropeptideiPRO_0000003875 | 28 – 135 | Sequence analysisAdd BLAST | 108 | |
ChainiPRO_0000003876 | 136 – 896 | Desmocollin-3Add BLAST | 761 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 166 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 392 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 546 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 629 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Cleavage on pair of basic residues, GlycoproteinProteomic databases
EPDi | Q14574 |
jPOSTi | Q14574 |
MassIVEi | Q14574 |
MaxQBi | Q14574 |
PaxDbi | Q14574 |
PeptideAtlasi | Q14574 |
PRIDEi | Q14574 |
ProteomicsDBi | 60052 [Q14574-1] 60053 [Q14574-2] |
TopDownProteomicsi | Q14574-1 [Q14574-1] |
PTM databases
GlyGeni | Q14574, 4 sites |
iPTMneti | Q14574 |
PhosphoSitePlusi | Q14574 |
SwissPalmi | Q14574 |
Expressioni
Tissue specificityi
Epidermis, buccal mucosa, esophagus and cervix.
Gene expression databases
Bgeei | ENSG00000134762, Expressed in gingival epithelium and 135 other tissues |
ExpressionAtlasi | Q14574, baseline and differential |
Genevisiblei | Q14574, HS |
Organism-specific databases
HPAi | ENSG00000134762, Group enriched (esophagus, lymphoid tissue, skin, tongue) |
Interactioni
GO - Molecular functioni
- gamma-catenin binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 108159, 25 interactors |
IntActi | Q14574, 9 interactors |
STRINGi | 9606.ENSP00000353608 |
Miscellaneous databases
RNActi | Q14574, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 136 – 243 | Cadherin 1PROSITE-ProRule annotationAdd BLAST | 108 | |
Domaini | 244 – 355 | Cadherin 2PROSITE-ProRule annotationAdd BLAST | 112 | |
Domaini | 356 – 471 | Cadherin 3PROSITE-ProRule annotationAdd BLAST | 116 | |
Domaini | 472 – 579 | Cadherin 4PROSITE-ProRule annotationAdd BLAST | 108 | |
Domaini | 580 – 690 | Cadherin 5PROSITE-ProRule annotationAdd BLAST | 111 |
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 helixPhylogenomic databases
eggNOGi | KOG3594, Eukaryota |
GeneTreei | ENSGT00950000182765 |
HOGENOMi | CLU_005284_2_0_1 |
InParanoidi | Q14574 |
OMAi | TLIMKVQ |
OrthoDBi | 120970at2759 |
PhylomeDBi | Q14574 |
TreeFami | TF316817 |
Family and domain databases
Gene3Di | 4.10.900.10, 1 hit |
InterProi | View protein in InterPro IPR002126, Cadherin-like_dom IPR015919, Cadherin-like_sf IPR020894, Cadherin_CS IPR000233, Cadherin_cytoplasmic-dom IPR014868, Cadherin_pro_dom IPR027397, Catenin-bd_sf IPR009122, Desmosomal_cadherin |
Pfami | View protein in Pfam PF00028, Cadherin, 4 hits PF01049, Cadherin_C, 1 hit PF08758, Cadherin_pro, 1 hit |
PRINTSi | PR00205, CADHERIN PR01818, DESMOCADHERN |
SMARTi | View protein in SMART SM00112, CA, 5 hits SM01055, Cadherin_pro, 1 hit |
SUPFAMi | SSF49313, SSF49313, 6 hits |
PROSITEi | View protein in PROSITE PS00232, CADHERIN_1, 3 hits PS50268, CADHERIN_2, 5 hits |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 3A (identifier: Q14574-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
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.
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketJ3QRL9 | J3QRL9_HUMAN | Desmocollin-3 | DSC3 | 214 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_048515 | 28 | A → D2 PublicationsCorresponds to variant dbSNP:rs2852003Ensembl. | 1 | |
Natural variantiVAR_048516 | 78 | S → T. Corresponds to variant dbSNP:rs276937Ensembl. | 1 | |
Natural variantiVAR_048517 | 102 | R → K. Corresponds to variant dbSNP:rs276938Ensembl. | 1 | |
Natural variantiVAR_048518 | 180 | K → Q. Corresponds to variant dbSNP:rs35296997EnsemblClinVar. | 1 | |
Natural variantiVAR_048519 | 199 | R → W. Corresponds to variant dbSNP:rs276921Ensembl. | 1 | |
Natural variantiVAR_048520 | 239 | N → S. Corresponds to variant dbSNP:rs35630063Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_000663 | 832 – 839 | KLHRCNQN → ESIRGHTG in isoform 3B. Curated | 8 | |
Alternative sequenceiVSP_000664 | 840 – 896 | Missing in isoform 3B. CuratedAdd BLAST | 57 |
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. |
CCDSi | CCDS32810.1 [Q14574-1] |
PIRi | A55363 |
RefSeqi | NP_001932.2, NM_001941.4 [Q14574-1] NP_077741.2, NM_024423.3 [Q14574-2] |
Genome annotation databases
Ensembli | ENST00000360428; ENSP00000353608; ENSG00000134762 [Q14574-1] ENST00000434452; ENSP00000392068; ENSG00000134762 [Q14574-2] |
GeneIDi | 1825 |
KEGGi | hsa:1825 |
UCSCi | uc002kwi.4, human [Q14574-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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. |
CCDSi | CCDS32810.1 [Q14574-1] |
PIRi | A55363 |
RefSeqi | NP_001932.2, NM_001941.4 [Q14574-1] NP_077741.2, NM_024423.3 [Q14574-2] |
3D structure databases
SMRi | Q14574 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 108159, 25 interactors |
IntActi | Q14574, 9 interactors |
STRINGi | 9606.ENSP00000353608 |
PTM databases
GlyGeni | Q14574, 4 sites |
iPTMneti | Q14574 |
PhosphoSitePlusi | Q14574 |
SwissPalmi | Q14574 |
Genetic variation databases
BioMutai | DSC3 |
DMDMi | 116241342 |
Proteomic databases
EPDi | Q14574 |
jPOSTi | Q14574 |
MassIVEi | Q14574 |
MaxQBi | Q14574 |
PaxDbi | Q14574 |
PeptideAtlasi | Q14574 |
PRIDEi | Q14574 |
ProteomicsDBi | 60052 [Q14574-1] 60053 [Q14574-2] |
TopDownProteomicsi | Q14574-1 [Q14574-1] |
Protocols and materials databases
Antibodypediai | 7988, 222 antibodies |
Genome annotation databases
Ensembli | ENST00000360428; ENSP00000353608; ENSG00000134762 [Q14574-1] ENST00000434452; ENSP00000392068; ENSG00000134762 [Q14574-2] |
GeneIDi | 1825 |
KEGGi | hsa:1825 |
UCSCi | uc002kwi.4, human [Q14574-1] |
Organism-specific databases
CTDi | 1825 |
DisGeNETi | 1825 |
GeneCardsi | DSC3 |
HGNCi | HGNC:3037, DSC3 |
HPAi | ENSG00000134762, Group enriched (esophagus, lymphoid tissue, skin, tongue) |
MalaCardsi | DSC3 |
MIMi | 600271, gene 613102, phenotype |
neXtProti | NX_Q14574 |
OpenTargetsi | ENSG00000134762 |
Orphaneti | 217407, Hereditary hypotrichosis with recurrent skin vesicles |
PharmGKBi | PA164741482 |
VEuPathDBi | HostDB:ENSG00000134762.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3594, Eukaryota |
GeneTreei | ENSGT00950000182765 |
HOGENOMi | CLU_005284_2_0_1 |
InParanoidi | Q14574 |
OMAi | TLIMKVQ |
OrthoDBi | 120970at2759 |
PhylomeDBi | Q14574 |
TreeFami | TF316817 |
Enzyme and pathway databases
PathwayCommonsi | Q14574 |
Reactomei | R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope |
Miscellaneous databases
BioGRID-ORCSi | 1825, 4 hits in 880 CRISPR screens |
ChiTaRSi | DSC3, human |
GeneWikii | DSC3 |
GenomeRNAii | 1825 |
Pharosi | Q14574, Tbio |
PROi | PR:Q14574 |
RNActi | Q14574, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000134762, Expressed in gingival epithelium and 135 other tissues |
ExpressionAtlasi | Q14574, baseline and differential |
Genevisiblei | Q14574, HS |
Family and domain databases
Gene3Di | 4.10.900.10, 1 hit |
InterProi | View protein in InterPro IPR002126, Cadherin-like_dom IPR015919, Cadherin-like_sf IPR020894, Cadherin_CS IPR000233, Cadherin_cytoplasmic-dom IPR014868, Cadherin_pro_dom IPR027397, Catenin-bd_sf IPR009122, Desmosomal_cadherin |
Pfami | View protein in Pfam PF00028, Cadherin, 4 hits PF01049, Cadherin_C, 1 hit PF08758, Cadherin_pro, 1 hit |
PRINTSi | PR00205, CADHERIN PR01818, DESMOCADHERN |
SMARTi | View protein in SMART SM00112, CA, 5 hits SM01055, Cadherin_pro, 1 hit |
SUPFAMi | SSF49313, SSF49313, 6 hits |
PROSITEi | View protein in PROSITE PS00232, CADHERIN_1, 3 hits PS50268, CADHERIN_2, 5 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DSC3_HUMAN | |
Accessioni | Q14574Primary (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: | February 10, 2021 | |
This is version 185 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 18
Human chromosome 18: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot