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UniProtKB - Q02413 (DSG1_HUMAN)

Entry version 199 (11 Dec 2019)
Sequence version 2 (23 Mar 2010)
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Protein

Desmoglein-1

Gene

DSG1

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.

<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

  • calcium ion binding Source: GO_Central
  • gamma-catenin binding Source: BHF-UCL
  • toxic substance binding Source: UniProtKB
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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-351906 Apoptotic cleavage of cell adhesion proteins
R-HSA-6798695 Neutrophil degranulation
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:
Desmoglein-1
Alternative name(s):
Cadherin family member 4
Desmosomal glycoprotein 1
Short name:
DG1
Short name:
DGI
Pemphigus foliaceus antigen
<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:DSG1
Synonyms:CDHF4
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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:ENSG00000134760.5

Human Gene Nomenclature Database

More...HGNCi		HGNC:3048 DSG1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		125670 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q02413

<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 domaini50 – 548ExtracellularSequence analysisAdd BLAST499
<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>Transmembranei549 – 569HelicalSequence analysisAdd BLAST21
Topological domaini570 – 1049CytoplasmicSequence analysisAdd BLAST480

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

Palmoplantar keratoderma 1, striate, focal, or diffuse (PPKS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA dermatological disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger.
Related information in OMIM
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE (EPKHE)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by severe dermatitis, multiple allergies and metabolic wasting. Clinical features include erythroderma, yellowish papules and plaques arranged at the periphery of the palms, along the fingers and over weight-bearing areas of the feet, skin erosions and scaling, and hypotrichosis. Additionally, patients manifest severe food allergies, elevated immunoglobulin E (IgE) levels and recurrent infections with marked metabolic wasting.
Related information in OMIM

Keywords - Diseasei

Hypotrichosis, Palmoplantar keratoderma

Organism-specific databases

DisGeNET

More...DisGeNETi		1828

MalaCards human disease database

More...MalaCardsi		DSG1
MIMi148700 phenotype
615508 phenotype

Open Targets

More...OpenTargetsi		ENSG00000134760

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

More...Orphaneti		369999 Diffuse palmoplantar keratoderma with painful fissures
370002 Focal palmoplantar keratoderma with joint keratoses
369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome
50942 Striate palmoplantar keratoderma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27501

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q02413 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DSG1

Domain mapping of disease mutations (DMDM)

More...DMDMi		292495005

<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 – 23Sequence analysisAdd BLAST23
<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_000000383724 – 49Sequence analysisAdd BLAST26
<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_000000383850 – 1049Desmoglein-1Add BLAST1000

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>Glycosylationi36N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi110N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi180N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei579PhosphoserineCombined sources1

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q02413

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q02413

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q02413

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q02413

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

More...PaxDbi		Q02413

PeptideAtlas

More...PeptideAtlasi		Q02413

PRoteomics IDEntifications database

More...PRIDEi		Q02413

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		58089 [Q02413-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q02413

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

More...PhosphoSitePlusi		Q02413

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q02413

<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, tongue, tonsil and esophagus.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000134760 Expressed in 87 organ(s), highest expression level in zone of skin

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q02413 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB009394
HPA022128

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Binds to JUP/plakoglobin.

(Microbial infection) Interacts with Staphylococcus aureus protein SdrD; this interaction increases S. aureus adherence to keratinocytes.

1 Publication

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108162, 56 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q02413

Protein interaction database and analysis system

More...IntActi		Q02413, 32 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000257192

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q02413 protein

<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

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

More...SMRi		Q02413

Database of comparative protein structure models

More...ModBasei		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>Domaini50 – 158Cadherin 1PROSITE-ProRule annotationAdd BLAST109
Domaini159 – 270Cadherin 2PROSITE-ProRule annotationAdd BLAST112
Domaini271 – 385Cadherin 3PROSITE-ProRule annotationAdd BLAST115
Domaini386 – 497Cadherin 4PROSITE-ProRule annotationAdd BLAST112
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati813 – 839Desmoglein repeat 1Add BLAST27
Repeati840 – 869Desmoglein repeat 2Add BLAST30
Repeati870 – 899Desmoglein repeat 3Add BLAST30
Repeati900 – 927Desmoglein repeat 4Add BLAST28
Repeati928 – 956Desmoglein repeat 5Add BLAST29

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi969 – 1019Gly/Ser-richAdd BLAST51

<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

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

More...GeneTreei		ENSGT00950000182765

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000236266

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q02413

KEGG Orthology (KO)

More...KOi		K07596

Identification of Orthologs from Complete Genome Data

More...OMAi		MDWRFFR

Database of Orthologous Groups

More...OrthoDBi		250139at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q02413

TreeFam database of animal gene trees

More...TreeFami		TF331809

Family and domain databases

Database of protein disorder

More...DisProti		DP01476

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		4.10.900.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR020894 Cadherin_CS
IPR000233 Cadherin_cytoplasmic-dom
IPR027397 Catenin_binding_dom_sf
IPR009123 Desmoglein
IPR009122 Desmosomal_cadherin

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00028 Cadherin, 3 hits
PF01049 Cadherin_C, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00205 CADHERIN
PR01818 DESMOCADHERN
PR01819 DESMOGLEIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00112 CA, 4 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49313 SSF49313, 4 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00232 CADHERIN_1, 2 hits
PS50268 CADHERIN_2, 4 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>. The information is filed in different subsections. The current subsections and their content are listed below:<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
Isoform 1 (identifier: Q02413-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MDWSFFRVVA MLFIFLVVVE VNSEFRIQVR DYNTKNGTIK WHSIRRQKRE 
        60         70         80         90        100
WIKFAAACRE GEDNSKRNPI AKIHSDCAAN QQVTYRISGV GIDQPPYGIF 
       110        120        130        140        150
VINQKTGEIN ITSIVDREVT PFFIIYCRAL NSMGQDLERP LELRVRVLDI 
       160        170        180        190        200
NDNPPVFSMA TFAGQIEENS NANTLVMILN ATDADEPNNL NSKIAFKIIR 
       210        220        230        240        250
QEPSDSPMFI INRNTGEIRT MNNFLDREQY GQYALAVRGS DRDGGADGMS 
       260        270        280        290        300
AECECNIKIL DVNDNIPYME QSSYTIEIQE NTLNSNLLEI RVIDLDEEFS 
       310        320        330        340        350
ANWMAVIFFI SGNEGNWFEI EMNERTNVGI LKVVKPLDYE AMQSLQLSIG 
       360        370        380        390        400
VRNKAEFHHS IMSQYKLKAS AISVTVLNVI EGPVFRPGSK TYVVTGNMGS 
       410        420        430        440        450
NDKVGDFVAT DLDTGRPSTT VRYVMGNNPA DLLAVDSRTG KLTLKNKVTK 
       460        470        480        490        500
EQYNMLGGKY QGTILSIDDN LQRTCTGTIN INIQSFGNDD RTNTEPNTKI 
       510        520        530        540        550
TTNTGRQEST SSTNYDTSTT STDSSQVYSS EPGNGAKDLL SDNVHFGPAG 
       560        570        580        590        600
IGLLIMGFLV LGLVPFLMIC CDCGGAPRSA AGFEPVPECS DGAIHSWAVE 
       610        620        630        640        650
GPQPEPRDIT TVIPQIPPDN ANIIECIDNS GVYTNEYGGR EMQDLGGGER 
       660        670        680        690        700
MTGFELTEGV KTSGMPEICQ EYSGTLRRNS MRECREGGLN MNFMESYFCQ 
       710        720        730        740        750
KAYAYADEDE GRPSNDCLLI YDIEGVGSPA GSVGCCSFIG EDLDDSFLDT 
       760        770        780        790        800
LGPKFKKLAD ISLGKESYPD LDPSWPPQST EPVCLPQETE PVVSGHPPIS 
       810        820        830        840        850
PHFGTTTVIS ESTYPSGPGV LHPKPILDPL GYGNVTVTES YTTSDTLKPS 
       860        870        880        890        900
VHVHDNRPAS NVVVTERVVG PISGADLHGM LEMPDLRDGS NVIVTERVIA 
       910        920        930        940        950
PSSSLPTSLT IHHPRESSNV VVTERVIQPT SGMIGSLSMH PELANAHNVI 
       960        970        980        990       1000
VTERVVSGAG VTGISGTTGI SGGIGSSGLV GTSMGAGSGA LSGAGISGGG 
      1010       1020       1030       1040 
IGLSSLGGTA SIGHMRSSSD HHFNQTIGSA SPSTARSRIT KYSTVQYSK
Length:1,049
Mass (Da):113,748
Last modified:March 23, 2010 - v2
<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:iFEA471244B9D67AE
GO
Isoform 2 (identifier: Q02413-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-641: Missing.

Show »
Length:408
Mass (Da):42,619
Checksum:iA910C8D97368B725
GO

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_06024811M → V2 PublicationsCorresponds to variant dbSNP:rs1426310EnsemblClinVar.1
Natural variantiVAR_055573395T → S. Corresponds to variant dbSNP:rs16961655Ensembl.1
Natural variantiVAR_024385493N → T. Corresponds to variant dbSNP:rs8091003Ensembl.1
Natural variantiVAR_024386498T → N. Corresponds to variant dbSNP:rs8091117Ensembl.1
Natural variantiVAR_055574528Y → S. Corresponds to variant dbSNP:rs16961689Ensembl.1
Natural variantiVAR_055575538D → N. Corresponds to variant dbSNP:rs34302455Ensembl.1
Natural variantiVAR_055576665M → I. Corresponds to variant dbSNP:rs35360042Ensembl.1
Natural variantiVAR_055577821L → Q. Corresponds to variant dbSNP:rs16961692Ensembl.1
Natural variantiVAR_060249828D → N. Corresponds to variant dbSNP:rs3752094Ensembl.1
Natural variantiVAR_020364841Y → F. Corresponds to variant dbSNP:rs3752095EnsemblClinVar.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_0559301 – 641Missing in isoform 2. 1 PublicationAdd BLAST641

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X56654 mRNA Translation: CAA39976.1
AF097935 mRNA Translation: AAC83817.1
AK302888 mRNA Translation: BAH13831.1
AC009717 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11896.1 [Q02413-1]

Protein sequence database of the Protein Information Resource

More...PIRi		S16906 IJHUG1

NCBI Reference Sequences

More...RefSeqi		NP_001933.2, NM_001942.3 [Q02413-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000257192; ENSP00000257192; ENSG00000134760 [Q02413-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1828

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1828

UCSC genome browser

More...UCSCi		uc002kwp.4 human [Q02413-1]

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
X56654 mRNA Translation: CAA39976.1
AF097935 mRNA Translation: AAC83817.1
AK302888 mRNA Translation: BAH13831.1
AC009717 Genomic DNA No translation available.
CCDSiCCDS11896.1 [Q02413-1]
PIRiS16906 IJHUG1
RefSeqiNP_001933.2, NM_001942.3 [Q02413-1]

3D structure databases

SMRiQ02413
ModBaseiSearch...

Protein-protein interaction databases

BioGridi108162, 56 interactors
ELMiQ02413
IntActiQ02413, 32 interactors
STRINGi9606.ENSP00000257192

PTM databases

iPTMnetiQ02413
PhosphoSitePlusiQ02413
SwissPalmiQ02413

Polymorphism and mutation databases

BioMutaiDSG1
DMDMi292495005

Proteomic databases

EPDiQ02413
jPOSTiQ02413
MassIVEiQ02413
MaxQBiQ02413
PaxDbiQ02413
PeptideAtlasiQ02413
PRIDEiQ02413
ProteomicsDBi58089 [Q02413-1]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		Q02413

The DNASU plasmid repository

More...DNASUi		1828

Genome annotation databases

EnsembliENST00000257192; ENSP00000257192; ENSG00000134760 [Q02413-1]
GeneIDi1828
KEGGihsa:1828
UCSCiuc002kwp.4 human [Q02413-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1828
DisGeNETi1828
EuPathDBiHostDB:ENSG00000134760.5

GeneCards: human genes, protein and diseases

More...GeneCardsi		DSG1
HGNCiHGNC:3048 DSG1
HPAiCAB009394
HPA022128
MalaCardsiDSG1
MIMi125670 gene
148700 phenotype
615508 phenotype
neXtProtiNX_Q02413
OpenTargetsiENSG00000134760
Orphaneti369999 Diffuse palmoplantar keratoderma with painful fissures
370002 Focal palmoplantar keratoderma with joint keratoses
369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome
50942 Striate palmoplantar keratoderma
PharmGKBiPA27501

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00950000182765
HOGENOMiHOG000236266
InParanoidiQ02413
KOiK07596
OMAiMDWRFFR
OrthoDBi250139at2759
PhylomeDBiQ02413
TreeFamiTF331809

Enzyme and pathway databases

ReactomeiR-HSA-351906 Apoptotic cleavage of cell adhesion proteins
R-HSA-6798695 Neutrophil degranulation
R-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

More...ChiTaRSi		DSG1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Desmoglein_1

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

More...GenomeRNAii		1828
PharosiQ02413 Tbio

Protein Ontology

More...PROi		PR:Q02413
RNActiQ02413 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000134760 Expressed in 87 organ(s), highest expression level in zone of skin
GenevisibleiQ02413 HS

Family and domain databases

DisProtiDP01476
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
IPR027397 Catenin_binding_dom_sf
IPR009123 Desmoglein
IPR009122 Desmosomal_cadherin
PfamiView protein in Pfam
PF00028 Cadherin, 3 hits
PF01049 Cadherin_C, 1 hit
PRINTSiPR00205 CADHERIN
PR01818 DESMOCADHERN
PR01819 DESMOGLEIN
SMARTiView protein in SMART
SM00112 CA, 4 hits
SUPFAMiSSF49313 SSF49313, 4 hits
PROSITEiView protein in PROSITE
PS00232 CADHERIN_1, 2 hits
PS50268 CADHERIN_2, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 nameiDSG1_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: Q02413
Secondary accession number(s): B7Z845
<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: October 1, 1993
Last sequence update: March 23, 2010
Last modified: December 11, 2019
This is version 199 of the entry and version 2 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

Reference proteome

Documents

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