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Entry version 144 (16 Oct 2019)
Sequence version 1 (01 Jun 2003)
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Protein

Desmoglein-4

Gene

DSG4

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. Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes (By similarity).By similarity

<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

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

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q86SJ6

<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-4
Alternative name(s):
Cadherin family member 13
<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:DSG4
Synonyms:CDHF13
<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

Human Gene Nomenclature Database

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HGNCi
HGNC:21307 DSG4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607892 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q86SJ6

<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 – 631ExtracellularSequence analysisAdd BLAST582
<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>Transmembranei632 – 652HelicalSequence analysisAdd BLAST21
Topological domaini653 – 1040CytoplasmicSequence analysisAdd BLAST388

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 6 (HYPT6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed.
Related information in OMIM
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_021291125 – 335Missing in HYPT6. 2 PublicationsAdd BLAST211
Autoantibodies against DSG4 are found in patients with pemphigus vulgaris. Pemphigus vulgaris is a potentially lethal skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion.

Keywords - Diseasei

Disease mutation, Hypotrichosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
147409

MalaCards human disease database

More...
MalaCardsi
DSG4
MIMi607903 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000175065

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

More...
Orphaneti
55654 Hypotrichosis simplex
573 Monilethrix

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134925919

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q86SJ6

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DSG4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
60389774

<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_000000385524 – 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_000000385650 – 1040Desmoglein-4Add BLAST991

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>Glycosylationi110N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi545N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q86SJ6

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q86SJ6

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q86SJ6

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q86SJ6

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

More...
PaxDbi
Q86SJ6

PeptideAtlas

More...
PeptideAtlasi
Q86SJ6

PRoteomics IDEntifications database

More...
PRIDEi
Q86SJ6

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
69597 [Q86SJ6-1]
69598 [Q86SJ6-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q86SJ6

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

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PhosphoSitePlusi
Q86SJ6

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q86SJ6

<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

Highly expressed in skin, testis and prostate; less in salivary gland. In scalp follicles, present in the inner root sheath (IRS) and all layers of the matrix and precortex.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000175065 Expressed in 15 organ(s), highest expression level in ectocervix

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q86SJ6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA059456

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
127059, 57 interactors

Protein interaction database and analysis system

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IntActi
Q86SJ6, 37 interactors

Molecular INTeraction database

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MINTi
Q86SJ6

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000352785

<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

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SMRi
Q86SJ6

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 – 157Cadherin 1PROSITE-ProRule annotationAdd BLAST108
Domaini158 – 269Cadherin 2PROSITE-ProRule annotationAdd BLAST112
Domaini270 – 385Cadherin 3PROSITE-ProRule annotationAdd BLAST116
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>Repeati884 – 909Desmoglein repeat 1Add BLAST26
Repeati910 – 940Desmoglein repeat 2Add BLAST31

<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

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GeneTreei
ENSGT00950000182765

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000236266

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q86SJ6

KEGG Orthology (KO)

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KOi
K07599

Identification of Orthologs from Complete Genome Data

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OMAi
EPMIHGD

Database of Orthologous Groups

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OrthoDBi
1004475at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q86SJ6

TreeFam database of animal gene trees

More...
TreeFami
TF331809

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
IPR027397 Catenin_binding_dom_sf
IPR009123 Desmoglein
IPR009122 Desmosomal_cadherin

Pfam protein domain database

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

Protein Motif fingerprint database; a protein domain database

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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

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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: Q86SJ6-1) [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
MDWLFFRNIC LLIILMVVME VNSEFIVEVK EFDIENGTTK WQTVRRQKRE
60 70 80 90 100
WIKFAAACRE GEDNSKRNPI AKIRSDCESN QKITYRISGV GIDRPPYGVF
110 120 130 140 150
TINPRTGEIN ITSVVDREIT PLFLIYCRAL NSRGEDLERP LELRVKVMDI
160 170 180 190 200
NDNAPVFSQS VYTASIEENS DANTLVVKLC ATDADEENHL NSKIAYKIVS
210 220 230 240 250
QEPSGAPMFI LNRYTGEVCT MSSFLDREQH SMYNLVVRGS DRDGAADGLS
260 270 280 290 300
SECDCRIKVL DVNDNFPTLE KTSYSASIEE NCLSSELIRL QAIDLDEEGT
310 320 330 340 350
DNWLAQYLIL SGNDGNWFDI QTDPQTNEGI LKVVKMLDYE QAPNIQLSIG
360 370 380 390 400
VKNQADFHYS VASQFQMHPT PVRIQVVDVR EGPAFHPSTM AFSVREGIKG
410 420 430 440 450
SSLLNYVLGT YTAIDLDTGN PATDVRYIIG HDAGSWLKID SRTGEIQFSR
460 470 480 490 500
EFDKKSKYII NGIYTAEILA IDDGSGKTAT GTICIEVPDI NDYCPNIFPE
510 520 530 540 550
RRTICIDSPS VLISVNEHSY GSPFTFCVVD EPPGIADMWD VRSTNATSAI
560 570 580 590 600
LTAKQVLSPG FYEIPILVKD SYNRACELAQ MVQLYACDCD DNHMCLDSGA
610 620 630 640 650
AGIYTEDITG DTYGPVTEDQ AGVSNVGLGP AGIGMMVLGI LLLILAPLLL
660 670 680 690 700
LLCCCKQRQP EGLGTRFAPV PEGGEGVMQS WRIEGAHPED RDVSNICAPM
710 720 730 740 750
TASNTQDRMD SSEIYTNTYA AGGTVEGGVS GVELNTGMGT AVGLMAAGAA
760 770 780 790 800
GASGAARKRS STMGTLRDYA DADINMAFLD SYFSEKAYAY ADEDEGRPAN
810 820 830 840 850
DCLLIYDHEG VGSPVGSIGC CSWIVDDLDE SCMETLDPKF RTLAEICLNT
860 870 880 890 900
EIEPFPSHQA CIPISTDLPL LGPNYFVNES SGLTPSEVEF QEEMAASEPV
910 920 930 940 950
VHGDIIVTET YGNADPCVQP TTIIFDPQLA PNVVVTEAVM APVYDIQGNI
960 970 980 990 1000
CVPAELADYN NVIYAERVLA SPGVPDMSNS STTEGCMGPV MSGNILVGPE
1010 1020 1030 1040
IQVMQMMSPD LPIGQTVGST SPMTSRHRVT RYSNIHYTQQ
Length:1,040
Mass (Da):113,824
Last modified:June 1, 2003 - v1
<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:i0385401584C55CF6
GO
Isoform 2 (identifier: Q86SJ6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     692-711: DVSNICAPMTASNTQDRMDS → LFSAYALPGGGGTADGGGSVLGRCALQATPALLNQHPPF

Show »
Length:1,059
Mass (Da):115,451
Checksum:iEA475FD4C2244624
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021291125 – 335Missing in HYPT6. 2 PublicationsAdd BLAST211
Natural variantiVAR_048514154A → T. Corresponds to variant dbSNP:rs13381457Ensembl.1
Natural variantiVAR_033700535I → T. Corresponds to variant dbSNP:rs7229252EnsemblClinVar.1
Natural variantiVAR_024387644I → L1 PublicationCorresponds to variant dbSNP:rs4799570EnsemblClinVar.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_012907692 – 711DVSNI…DRMDS → LFSAYALPGGGGTADGGGSV LGRCALQATPALLNQHPPF in isoform 2. 3 PublicationsAdd BLAST20

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

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DDBJi
Links Updated
AY227350 mRNA Translation: AAP45000.1
AY177663 Genomic DNA Translation: AAO47077.1
AY177664 mRNA Translation: AAO47078.1
AY168788 mRNA Translation: AAO43657.1
AY228236 mRNA Translation: AAP49811.1
BC039098 mRNA Translation: AAH39098.1
BC132907 mRNA Translation: AAI32908.1
BC132909 mRNA Translation: AAI32910.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS11897.1 [Q86SJ6-1]
CCDS45845.1 [Q86SJ6-2]

NCBI Reference Sequences

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RefSeqi
NP_001127925.1, NM_001134453.2 [Q86SJ6-2]
NP_817123.1, NM_177986.4 [Q86SJ6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000308128; ENSP00000311859; ENSG00000175065 [Q86SJ6-1]
ENST00000359747; ENSP00000352785; ENSG00000175065 [Q86SJ6-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
147409

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:147409

UCSC genome browser

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UCSCi
uc002kwq.3 human [Q86SJ6-1]

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
AY227350 mRNA Translation: AAP45000.1
AY177663 Genomic DNA Translation: AAO47077.1
AY177664 mRNA Translation: AAO47078.1
AY168788 mRNA Translation: AAO43657.1
AY228236 mRNA Translation: AAP49811.1
BC039098 mRNA Translation: AAH39098.1
BC132907 mRNA Translation: AAI32908.1
BC132909 mRNA Translation: AAI32910.1
CCDSiCCDS11897.1 [Q86SJ6-1]
CCDS45845.1 [Q86SJ6-2]
RefSeqiNP_001127925.1, NM_001134453.2 [Q86SJ6-2]
NP_817123.1, NM_177986.4 [Q86SJ6-1]

3D structure databases

SMRiQ86SJ6
ModBaseiSearch...

Protein-protein interaction databases

BioGridi127059, 57 interactors
IntActiQ86SJ6, 37 interactors
MINTiQ86SJ6
STRINGi9606.ENSP00000352785

PTM databases

iPTMnetiQ86SJ6
PhosphoSitePlusiQ86SJ6
SwissPalmiQ86SJ6

Polymorphism and mutation databases

BioMutaiDSG4
DMDMi60389774

Proteomic databases

EPDiQ86SJ6
jPOSTiQ86SJ6
MassIVEiQ86SJ6
MaxQBiQ86SJ6
PaxDbiQ86SJ6
PeptideAtlasiQ86SJ6
PRIDEiQ86SJ6
ProteomicsDBi69597 [Q86SJ6-1]
69598 [Q86SJ6-2]

Genome annotation databases

EnsembliENST00000308128; ENSP00000311859; ENSG00000175065 [Q86SJ6-1]
ENST00000359747; ENSP00000352785; ENSG00000175065 [Q86SJ6-2]
GeneIDi147409
KEGGihsa:147409
UCSCiuc002kwq.3 human [Q86SJ6-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
147409
DisGeNETi147409

GeneCards: human genes, protein and diseases

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GeneCardsi
DSG4
HGNCiHGNC:21307 DSG4
HPAiHPA059456
MalaCardsiDSG4
MIMi607892 gene
607903 phenotype
neXtProtiNX_Q86SJ6
OpenTargetsiENSG00000175065
Orphaneti55654 Hypotrichosis simplex
573 Monilethrix
PharmGKBiPA134925919

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00950000182765
HOGENOMiHOG000236266
InParanoidiQ86SJ6
KOiK07599
OMAiEPMIHGD
OrthoDBi1004475at2759
PhylomeDBiQ86SJ6
TreeFamiTF331809

Enzyme and pathway databases

ReactomeiR-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope
SIGNORiQ86SJ6

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
DSG4

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

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GenomeRNAii
147409
PharosiQ86SJ6

Protein Ontology

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PROi
PR:Q86SJ6

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000175065 Expressed in 15 organ(s), highest expression level in ectocervix
GenevisibleiQ86SJ6 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
IPR027397 Catenin_binding_dom_sf
IPR009123 Desmoglein
IPR009122 Desmosomal_cadherin
PfamiView protein in Pfam
PF00028 Cadherin, 4 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

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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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 nameiDSG4_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: Q86SJ6
Secondary accession number(s): A2RUI1, Q6Y9L9, Q8IXV4
<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: March 1, 2005
Last sequence update: June 1, 2003
Last modified: October 16, 2019
This is version 144 of the entry and version 1 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, 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
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