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Q86SJ6

- DSG4_HUMAN

UniProt

Q86SJ6 - DSG4_HUMAN

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Protein

Desmoglein-4

Gene

DSG4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

  1. calcium ion binding Source: Ensembl

GO - Biological processi

  1. anagen Source: Ensembl
  2. BMP signaling pathway Source: Ensembl
  3. homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
  4. keratinocyte differentiation Source: Ensembl
  5. single organismal cell-cell adhesion Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium, Metal-binding

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
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:21307. DSG4.

Subcellular locationi

Cell membrane By similarity; Single-pass type I membrane protein By similarity. Cell junctiondesmosome By similarity

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini50 – 631582ExtracellularSequence AnalysisAdd
BLAST
Transmembranei632 – 65221HelicalSequence AnalysisAdd
BLAST
Topological domaini653 – 1040388CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. desmosome Source: Ensembl
  2. integral component of membrane Source: UniProtKB-KW
  3. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Hypotrichosis 6 (HYPT6) [MIM:607903]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti125 – 335211Missing in HYPT6. 2 Publications
VAR_021291Add
BLAST
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

MIMi607903. phenotype.
Orphaneti55654. Hypotrichosis simplex.
573. Monilethrix.
PharmGKBiPA134925919.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323Sequence AnalysisAdd
BLAST
Propeptidei24 – 4926Sequence AnalysisPRO_0000003855Add
BLAST
Chaini50 – 1040991Desmoglein-4PRO_0000003856Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi110 – 1101N-linked (GlcNAc...)Sequence Analysis
Glycosylationi545 – 5451N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein

Proteomic databases

MaxQBiQ86SJ6.
PaxDbiQ86SJ6.
PeptideAtlasiQ86SJ6.
PRIDEiQ86SJ6.

PTM databases

PhosphoSiteiQ86SJ6.

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

BgeeiQ86SJ6.
CleanExiHS_DSG4.
GenevestigatoriQ86SJ6.

Organism-specific databases

HPAiHPA059456.

Interactioni

Protein-protein interaction databases

BioGridi127059. 18 interactions.
IntActiQ86SJ6. 1 interaction.
STRINGi9606.ENSP00000352785.

Structurei

3D structure databases

ProteinModelPortaliQ86SJ6.
SMRiQ86SJ6. Positions 47-573.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini50 – 157108Cadherin 1PROSITE-ProRule annotationAdd
BLAST
Domaini158 – 269112Cadherin 2PROSITE-ProRule annotationAdd
BLAST
Domaini270 – 385116Cadherin 3PROSITE-ProRule annotationAdd
BLAST
Domaini386 – 497112Cadherin 4PROSITE-ProRule annotationAdd
BLAST
Repeati884 – 90926Desmoglein repeat 1Add
BLAST
Repeati910 – 94031Desmoglein repeat 2Add
BLAST

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

Sequence similaritiesi

Contains 4 cadherin domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG250212.
GeneTreeiENSGT00760000118906.
HOGENOMiHOG000236266.
HOVERGENiHBG005532.
InParanoidiQ86SJ6.
KOiK07599.
OMAiWRIEGAH.
OrthoDBiEOG7FBRGV.
PhylomeDBiQ86SJ6.
TreeFamiTF331809.

Family and domain databases

Gene3Di2.60.40.60. 4 hits.
4.10.900.10. 1 hit.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR000233. Cadherin_cytoplasmic-dom.
IPR027397. Catenin_binding_dom.
IPR009123. Desmoglein.
IPR009122. Desmosomal_cadherin.
[Graphical view]
PANTHERiPTHR24025. PTHR24025. 1 hit.
PfamiPF00028. Cadherin. 4 hits.
PF01049. Cadherin_C. 1 hit.
[Graphical view]
PRINTSiPR00205. CADHERIN.
PR01818. DESMOCADHERN.
PR01819. DESMOGLEIN.
SMARTiSM00112. CA. 4 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 4 hits.
PROSITEiPS00232. CADHERIN_1. 2 hits.
PS50268. CADHERIN_2. 4 hits.
[Graphical view]

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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti125 – 335211Missing in HYPT6. 2 Publications
VAR_021291Add
BLAST
Natural varianti154 – 1541A → T.
Corresponds to variant rs13381457 [ dbSNP | Ensembl ].
VAR_048514
Natural varianti535 – 5351I → T.
Corresponds to variant rs7229252 [ dbSNP | Ensembl ].
VAR_033700
Natural varianti644 – 6441I → L.1 Publication
Corresponds to variant rs4799570 [ dbSNP | Ensembl ].
VAR_024387

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei692 – 71120DVSNI…DRMDS → LFSAYALPGGGGTADGGGSV LGRCALQATPALLNQHPPF in isoform 2. 3 PublicationsVSP_012907Add
BLAST

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_001134453.1. [Q86SJ6-2]
NP_817123.1. NM_177986.3. [Q86SJ6-1]
UniGeneiHs.407618.

Genome annotation databases

EnsembliENST00000308128; ENSP00000311859; ENSG00000175065. [Q86SJ6-1]
ENST00000359747; ENSP00000352785; ENSG00000175065. [Q86SJ6-2]
GeneIDi147409.
KEGGihsa:147409.
UCSCiuc002kwq.2. human. [Q86SJ6-1]
uc002kwr.2. human. [Q86SJ6-2]

Polymorphism databases

DMDMi60389774.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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 .
CCDSi CCDS11897.1. [Q86SJ6-1 ]
CCDS45845.1. [Q86SJ6-2 ]
RefSeqi NP_001127925.1. NM_001134453.1. [Q86SJ6-2 ]
NP_817123.1. NM_177986.3. [Q86SJ6-1 ]
UniGenei Hs.407618.

3D structure databases

ProteinModelPortali Q86SJ6.
SMRi Q86SJ6. Positions 47-573.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127059. 18 interactions.
IntActi Q86SJ6. 1 interaction.
STRINGi 9606.ENSP00000352785.

PTM databases

PhosphoSitei Q86SJ6.

Polymorphism databases

DMDMi 60389774.

Proteomic databases

MaxQBi Q86SJ6.
PaxDbi Q86SJ6.
PeptideAtlasi Q86SJ6.
PRIDEi Q86SJ6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000308128 ; ENSP00000311859 ; ENSG00000175065 . [Q86SJ6-1 ]
ENST00000359747 ; ENSP00000352785 ; ENSG00000175065 . [Q86SJ6-2 ]
GeneIDi 147409.
KEGGi hsa:147409.
UCSCi uc002kwq.2. human. [Q86SJ6-1 ]
uc002kwr.2. human. [Q86SJ6-2 ]

Organism-specific databases

CTDi 147409.
GeneCardsi GC18P028956.
HGNCi HGNC:21307. DSG4.
HPAi HPA059456.
MIMi 607892. gene.
607903. phenotype.
neXtProti NX_Q86SJ6.
Orphaneti 55654. Hypotrichosis simplex.
573. Monilethrix.
PharmGKBi PA134925919.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG250212.
GeneTreei ENSGT00760000118906.
HOGENOMi HOG000236266.
HOVERGENi HBG005532.
InParanoidi Q86SJ6.
KOi K07599.
OMAi WRIEGAH.
OrthoDBi EOG7FBRGV.
PhylomeDBi Q86SJ6.
TreeFami TF331809.

Miscellaneous databases

GeneWikii DSG4.
GenomeRNAii 147409.
NextBioi 85608.
PROi Q86SJ6.
SOURCEi Search...

Gene expression databases

Bgeei Q86SJ6.
CleanExi HS_DSG4.
Genevestigatori Q86SJ6.

Family and domain databases

Gene3Di 2.60.40.60. 4 hits.
4.10.900.10. 1 hit.
InterProi IPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR000233. Cadherin_cytoplasmic-dom.
IPR027397. Catenin_binding_dom.
IPR009123. Desmoglein.
IPR009122. Desmosomal_cadherin.
[Graphical view ]
PANTHERi PTHR24025. PTHR24025. 1 hit.
Pfami PF00028. Cadherin. 4 hits.
PF01049. Cadherin_C. 1 hit.
[Graphical view ]
PRINTSi PR00205. CADHERIN.
PR01818. DESMOCADHERN.
PR01819. DESMOGLEIN.
SMARTi SM00112. CA. 4 hits.
[Graphical view ]
SUPFAMi SSF49313. SSF49313. 4 hits.
PROSITEi PS00232. CADHERIN_1. 2 hits.
PS50268. CADHERIN_2. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Desmoglein 4 in hair follicle differentiation and epidermal adhesion. Evidence from inherited hypotrichosis and acquired pemphigus vulgaris."
    Kljuic A., Bazzi H., Sundberg J.P., Martinez-Mir A., O'Shaughnessy R., Mahoney M.G., Levy M., Montagutelli X., Ahmad W., Aita V.M., Gordon D., Uitto J., Whiting D., Ott J., Fischer S., Gilliam T.C., Jahoda C.A.B., Morris R.J.
    , Panteleyev A.A., Nguyen V.T., Christiano A.M.
    Cell 113:249-260(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT LAH1 125-ILE--LYS-335 DEL, IDENTIFICATION AS AN AUTOANTIGEN IN PV.
    Tissue: Epithelium.
  2. "Genetic evidence for a novel human desmosomal cadherin, desmoglein 4."
    Whittock N.V., Bower C.
    J. Invest. Dermatol. 120:523-530(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Skin and Testis.
  3. "Experimental mouse model-passive transfer of nondesmoglein 1 and 3 antibodies for Pemphigus Vulgaris."
    Nguyen V.T.
    (In) Chan L.S. (eds.); Animal models of human inflammatory skin diseases, pp.285-306, CRC Press, Boca Raton (2003)
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Epidermis.
  4. "Novel Pemphigus vulgaris antigen desmoglein 4 has an important role in mediating keratinocyte adhesion."
    Nguyen V.T.
    Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT LEU-644.
    Tissue: Testis.
  6. "A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis."
    Rafiq M.A., Ansar M., Mahmood S., Haque S., Faiyaz-ul-Haque M., Leal S.M., Ahmad W.
    J. Invest. Dermatol. 123:247-248(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HYPT6 125-ILE--LYS-335 DEL.

Entry informationi

Entry nameiDSG4_HUMAN
AccessioniPrimary (citable) accession number: Q86SJ6
Secondary accession number(s): A2RUI1, Q6Y9L9, Q8IXV4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2005
Last sequence update: June 1, 2003
Last modified: October 29, 2014
This is version 105 of the entry and version 1 of the sequence. [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 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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3