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Entry version 171 (10 Apr 2019)
Sequence version 3 (17 Oct 2006)
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Protein

Desmocollin-3

Gene

DSC3

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell adhesion
LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Desmocollin-3
Alternative name(s):
Cadherin family member 3
Desmocollin-4
HT-CP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DSC3
Synonyms:CDHF3, DSC4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 18

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000134762.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3037 DSC3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600271 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14574

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini136 – 690ExtracellularSequence analysisAdd BLAST555
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei691 – 711HelicalSequence analysisAdd BLAST21
Topological domaini712 – 896CytoplasmicSequence analysisAdd BLAST185

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
1825

MalaCards human disease database

More...
MalaCardsi
DSC3
MIMi613102 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000134762

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
217407 Hereditary hypotrichosis with recurrent skin vesicles

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164741482

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DSC3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116241342

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 27Sequence analysisAdd BLAST27
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000000387528 – 135Sequence analysisAdd BLAST108
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000003876136 – 896Desmocollin-3Add BLAST761

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi166N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi392N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi546N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi629N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q14574

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q14574

MaxQB - The MaxQuant DataBase

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MaxQBi
Q14574

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q14574

PeptideAtlas

More...
PeptideAtlasi
Q14574

PRoteomics IDEntifications database

More...
PRIDEi
Q14574

ProteomicsDB human proteome resource

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ProteomicsDBi
60052
60053 [Q14574-2]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q14574-1 [Q14574-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q14574

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q14574

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q14574

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Epidermis, buccal mucosa, esophagus and cervix.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000134762 Expressed in 120 organ(s), highest expression level in gingival epithelium

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q14574 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q14574 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB037328
HPA049265
HPA073937

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108159, 16 interactors

Protein interaction database and analysis system

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IntActi
Q14574, 4 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000353608

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q14574

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q14574

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini136 – 243Cadherin 1PROSITE-ProRule annotationAdd BLAST108
Domaini244 – 355Cadherin 2PROSITE-ProRule annotationAdd BLAST112
Domaini356 – 471Cadherin 3PROSITE-ProRule annotationAdd BLAST116
Domaini472 – 579Cadherin 4PROSITE-ProRule annotationAdd BLAST108
Domaini580 – 690Cadherin 5PROSITE-ProRule annotationAdd BLAST111

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3594 Eukaryota
ENOG410XQHI LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000182765

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231253

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG102801

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q14574

KEGG Orthology (KO)

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KOi
K07602

Identification of Orthologs from Complete Genome Data

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OMAi
NEAPFTR

Database of Orthologous Groups

More...
OrthoDBi
120970at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q14574

TreeFam database of animal gene trees

More...
TreeFami
TF316817

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
4.10.900.10, 1 hit

Integrated resource of protein families, domains and functional sites

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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_binding_dom_sf
IPR009122 Desmosomal_cadherin

The PANTHER Classification System

More...
PANTHERi
PTHR24025 PTHR24025, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00028 Cadherin, 4 hits
PF01049 Cadherin_C, 1 hit
PF08758 Cadherin_pro, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00205 CADHERIN
PR01818 DESMOCADHERN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00112 CA, 5 hits
SM01055 Cadherin_pro, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49313 SSF49313, 6 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00232 CADHERIN_1, 3 hits
PS50268 CADHERIN_2, 5 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 '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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QRL9J3QRL9_HUMAN
Desmocollin-3
DSC3
214Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04851528A → D2 PublicationsCorresponds to variant dbSNP:rs2852003Ensembl.1
Natural variantiVAR_04851678S → T. Corresponds to variant dbSNP:rs276937Ensembl.1
Natural variantiVAR_048517102R → K. Corresponds to variant dbSNP:rs276938Ensembl.1
Natural variantiVAR_048518180K → Q. Corresponds to variant dbSNP:rs35296997Ensembl.1
Natural variantiVAR_048519199R → W. Corresponds to variant dbSNP:rs276921Ensembl.1
Natural variantiVAR_048520239N → S. Corresponds to variant dbSNP:rs35630063Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_000663832 – 839KLHRCNQN → ESIRGHTG in isoform 3B. Curated8
Alternative sequenceiVSP_000664840 – 896Missing in isoform 3B. CuratedAdd BLAST57

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS32810.1 [Q14574-1]

Protein sequence database of the Protein Information Resource

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PIRi
A55363

NCBI Reference Sequences

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RefSeqi
NP_001932.2, NM_001941.4 [Q14574-1]
NP_077741.2, NM_024423.3 [Q14574-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.41690

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000360428; ENSP00000353608; ENSG00000134762 [Q14574-1]
ENST00000434452; ENSP00000392068; ENSG00000134762 [Q14574-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
1825

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1825

UCSC genome browser

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UCSCi
uc002kwi.4 human [Q14574-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108159, 16 interactors
IntActiQ14574, 4 interactors
STRINGi9606.ENSP00000353608

PTM databases

iPTMnetiQ14574
PhosphoSitePlusiQ14574
SwissPalmiQ14574

Polymorphism and mutation databases

BioMutaiDSC3
DMDMi116241342

Proteomic databases

EPDiQ14574
jPOSTiQ14574
MaxQBiQ14574
PaxDbiQ14574
PeptideAtlasiQ14574
PRIDEiQ14574
ProteomicsDBi60052
60053 [Q14574-2]
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

Comparative Toxicogenomics Database

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CTDi
1825
DisGeNETi1825
EuPathDBiHostDB:ENSG00000134762.16

GeneCards: human genes, protein and diseases

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GeneCardsi
DSC3
HGNCiHGNC:3037 DSC3
HPAiCAB037328
HPA049265
HPA073937
MalaCardsiDSC3
MIMi600271 gene
613102 phenotype
neXtProtiNX_Q14574
OpenTargetsiENSG00000134762
Orphaneti217407 Hereditary hypotrichosis with recurrent skin vesicles
PharmGKBiPA164741482

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00950000182765
HOGENOMiHOG000231253
HOVERGENiHBG102801
InParanoidiQ14574
KOiK07602
OMAiNEAPFTR
OrthoDBi120970at2759
PhylomeDBiQ14574
TreeFamiTF316817

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
DSC3 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
DSC3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
1825

Protein Ontology

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PROi
PR:Q14574

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000134762 Expressed in 120 organ(s), highest expression level in gingival epithelium
ExpressionAtlasiQ14574 baseline and differential
GenevisibleiQ14574 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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDSC3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q14574
Secondary accession number(s): A6NN35, Q14200, Q9HAZ9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 17, 2006
Last modified: April 10, 2019
This is version 171 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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