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Q86SJ6

- DSG4_HUMAN

UniProt

Q86SJ6 - DSG4_HUMAN

Protein

Desmoglein-4

Gene

DSG4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 1 (01 Jun 2003)
      Previous versions | rss
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    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 Source: InterPro
    4. keratinocyte differentiation Source: Ensembl
    5. single organismal cell-cell adhesion Source: Ensembl

    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

    GO - Cellular componenti

    1. desmosome Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW
    3. plasma membrane Source: UniProtKB-SubCell

    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

    IntActiQ86SJ6. 1 interaction.
    STRINGi9606.ENSP00000352785.

    Structurei

    3D structure databases

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

    Topological domain

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

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei632 – 65221HelicalSequence AnalysisAdd
    BLAST

    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.
    HOGENOMiHOG000236266.
    HOVERGENiHBG005532.
    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

    MDWLFFRNIC LLIILMVVME VNSEFIVEVK EFDIENGTTK WQTVRRQKRE     50
    WIKFAAACRE GEDNSKRNPI AKIRSDCESN QKITYRISGV GIDRPPYGVF 100
    TINPRTGEIN ITSVVDREIT PLFLIYCRAL NSRGEDLERP LELRVKVMDI 150
    NDNAPVFSQS VYTASIEENS DANTLVVKLC ATDADEENHL NSKIAYKIVS 200
    QEPSGAPMFI LNRYTGEVCT MSSFLDREQH SMYNLVVRGS DRDGAADGLS 250
    SECDCRIKVL DVNDNFPTLE KTSYSASIEE NCLSSELIRL QAIDLDEEGT 300
    DNWLAQYLIL SGNDGNWFDI QTDPQTNEGI LKVVKMLDYE QAPNIQLSIG 350
    VKNQADFHYS VASQFQMHPT PVRIQVVDVR EGPAFHPSTM AFSVREGIKG 400
    SSLLNYVLGT YTAIDLDTGN PATDVRYIIG HDAGSWLKID SRTGEIQFSR 450
    EFDKKSKYII NGIYTAEILA IDDGSGKTAT GTICIEVPDI NDYCPNIFPE 500
    RRTICIDSPS VLISVNEHSY GSPFTFCVVD EPPGIADMWD VRSTNATSAI 550
    LTAKQVLSPG FYEIPILVKD SYNRACELAQ MVQLYACDCD DNHMCLDSGA 600
    AGIYTEDITG DTYGPVTEDQ AGVSNVGLGP AGIGMMVLGI LLLILAPLLL 650
    LLCCCKQRQP EGLGTRFAPV PEGGEGVMQS WRIEGAHPED RDVSNICAPM 700
    TASNTQDRMD SSEIYTNTYA AGGTVEGGVS GVELNTGMGT AVGLMAAGAA 750
    GASGAARKRS STMGTLRDYA DADINMAFLD SYFSEKAYAY ADEDEGRPAN 800
    DCLLIYDHEG VGSPVGSIGC CSWIVDDLDE SCMETLDPKF RTLAEICLNT 850
    EIEPFPSHQA CIPISTDLPL LGPNYFVNES SGLTPSEVEF QEEMAASEPV 900
    VHGDIIVTET YGNADPCVQP TTIIFDPQLA PNVVVTEAVM APVYDIQGNI 950
    CVPAELADYN NVIYAERVLA SPGVPDMSNS STTEGCMGPV MSGNILVGPE 1000
    IQVMQMMSPD LPIGQTVGST SPMTSRHRVT RYSNIHYTQQ 1040
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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

    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.
    HOGENOMi HOG000236266.
    HOVERGENi HBG005532.
    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

    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 1, 2014
    This is version 104 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