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Protein

Desmoglein-4

Gene

DSG4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processCell adhesion
LigandCalcium, Metal-binding

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Desmoglein-4
Alternative name(s):
Cadherin family member 13
Gene namesi
Name:DSG4
Synonyms:CDHF13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000175065.11
HGNCiHGNC:21307 DSG4
MIMi607892 gene
neXtProtiNX_Q86SJ6

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini50 – 631ExtracellularSequence analysisAdd BLAST582
Transmembranei632 – 652HelicalSequence analysisAdd BLAST21
Topological domaini653 – 1040CytoplasmicSequence analysisAdd BLAST388

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

Pathology & Biotechi

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.
See also OMIM:607903
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi147409
MalaCardsiDSG4
MIMi607903 phenotype
OpenTargetsiENSG00000175065
Orphaneti55654 Hypotrichosis simplex
573 Monilethrix
PharmGKBiPA134925919

Polymorphism and mutation databases

BioMutaiDSG4
DMDMi60389774

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
PropeptideiPRO_000000385524 – 49Sequence analysisAdd BLAST26
ChainiPRO_000000385650 – 1040Desmoglein-4Add BLAST991

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi110N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi545N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein

Proteomic databases

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

PTM databases

iPTMnetiQ86SJ6
PhosphoSitePlusiQ86SJ6
SwissPalmiQ86SJ6

Expressioni

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

BgeeiENSG00000175065 Expressed in 15 organ(s), highest expression level in ectocervix
CleanExiHS_DSG4
GenevisibleiQ86SJ6 HS

Organism-specific databases

HPAiHPA059456

Interactioni

Protein-protein interaction databases

BioGridi127059, 55 interactors
IntActiQ86SJ6, 1 interactor
STRINGi9606.ENSP00000352785

Structurei

3D structure databases

ProteinModelPortaliQ86SJ6
SMRiQ86SJ6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini50 – 157Cadherin 1PROSITE-ProRule annotationAdd BLAST108
Domaini158 – 269Cadherin 2PROSITE-ProRule annotationAdd BLAST112
Domaini270 – 385Cadherin 3PROSITE-ProRule annotationAdd BLAST116
Domaini386 – 497Cadherin 4PROSITE-ProRule annotationAdd BLAST112
Repeati884 – 909Desmoglein repeat 1Add BLAST26
Repeati910 – 940Desmoglein repeat 2Add BLAST31

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

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00910000144083
HOGENOMiHOG000236266
HOVERGENiHBG005532
InParanoidiQ86SJ6
KOiK07599
OMAiRMHSTPV
OrthoDBiEOG091G011Q
PhylomeDBiQ86SJ6
TreeFamiTF331809

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
PANTHERiPTHR24025 PTHR24025, 1 hit
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

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q86SJ6-1) [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
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
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
Alternative sequenceiVSP_012907692 – 711DVSNI…DRMDS → LFSAYALPGGGGTADGGGSV LGRCALQATPALLNQHPPF in isoform 2. 3 PublicationsAdd BLAST20

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]
UniGeneiHs.407618

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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]
UniGeneiHs.407618

3D structure databases

ProteinModelPortaliQ86SJ6
SMRiQ86SJ6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127059, 55 interactors
IntActiQ86SJ6, 1 interactor
STRINGi9606.ENSP00000352785

PTM databases

iPTMnetiQ86SJ6
PhosphoSitePlusiQ86SJ6
SwissPalmiQ86SJ6

Polymorphism and mutation databases

BioMutaiDSG4
DMDMi60389774

Proteomic databases

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

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi147409
DisGeNETi147409
EuPathDBiHostDB:ENSG00000175065.11
GeneCardsiDSG4
HGNCiHGNC:21307 DSG4
HPAiHPA059456
MalaCardsiDSG4
MIMi607892 gene
607903 phenotype
neXtProtiNX_Q86SJ6
OpenTargetsiENSG00000175065
Orphaneti55654 Hypotrichosis simplex
573 Monilethrix
PharmGKBiPA134925919
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00910000144083
HOGENOMiHOG000236266
HOVERGENiHBG005532
InParanoidiQ86SJ6
KOiK07599
OMAiRMHSTPV
OrthoDBiEOG091G011Q
PhylomeDBiQ86SJ6
TreeFamiTF331809

Enzyme and pathway databases

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

Miscellaneous databases

GeneWikiiDSG4
GenomeRNAii147409
PROiPR:Q86SJ6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000175065 Expressed in 15 organ(s), highest expression level in ectocervix
CleanExiHS_DSG4
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
PANTHERiPTHR24025 PTHR24025, 1 hit
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
ProtoNetiSearch...

Entry informationi

Entry nameiDSG4_HUMAN
AccessioniPrimary (citable) accession number: Q86SJ6
Secondary accession number(s): A2RUI1, Q6Y9L9, Q8IXV4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2005
Last sequence update: June 1, 2003
Last modified: November 7, 2018
This is version 136 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, 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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Main funding by: National Institutes of Health

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