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Protein

Desmoglein-4

Gene

Dsg4

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: 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.1 Publication

GO - Molecular functioni

GO - Biological processi

  • BMP signaling pathway Source: MGI
  • hair follicle development Source: MGI
  • homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
  • keratinocyte differentiation Source: MGI
  • single organismal cell-cell adhesion Source: MGI
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Desmoglein-4
Gene namesi
Name:Dsg4
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 18

Organism-specific databases

MGIiMGI:2661061. Dsg4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini50 – 634585ExtracellularSequence analysisAdd
BLAST
Transmembranei635 – 65521HelicalSequence analysisAdd
BLAST
Topological domaini656 – 1041386CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • desmosome Source: MGI
  • integral component of membrane Source: UniProtKB-KW
  • plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Defects in Dsg4 are the cause of an autosomal recessive phenotype lanceolate hair (lah). Lah mice pups develop only a few short hairs on the head and neck which form a lance head at the tip and disappear within a few month. They have thickened skin and do not exhibit any growth retardation.

Keywords - Diseasei

Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323Sequence analysisAdd
BLAST
Propeptidei24 – 4926Sequence analysisPRO_0000003857Add
BLAST
Chaini50 – 1041992Desmoglein-4PRO_0000003858Add
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

MaxQBiQ7TMD7.
PaxDbiQ7TMD7.
PRIDEiQ7TMD7.

PTM databases

iPTMnetiQ7TMD7.
PhosphoSiteiQ7TMD7.

Expressioni

Tissue specificityi

Strongly expressed in the skin; during the anagen stage of hair follicles in the matrix, precortex and inner rooth sheath.1 Publication

Developmental stagei

Expressed in embryo at 7 to 17 dpc.1 Publication

Gene expression databases

BgeeiQ7TMD7.
CleanExiMM_DSG4.

Interactioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000019426.

Structurei

3D structure databases

ProteinModelPortaliQ7TMD7.
SMRiQ7TMD7. 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
Domaini389 – 497109Cadherin 4PROSITE-ProRule annotationAdd
BLAST
Repeati884 – 91027Desmoglein repeat 1Add
BLAST
Repeati911 – 94131Desmoglein 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

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00760000118906.
HOGENOMiHOG000236266.
HOVERGENiHBG005532.
InParanoidiQ7TMD7.
KOiK07599.
OMAiPFTFCVV.
OrthoDBiEOG7FBRGV.
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. 2 hits.
PfamiPF00028. Cadherin. 3 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]

Sequencei

Sequence statusi: Complete.

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

Q7TMD7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDWLLFRNIC LLILFMVVLG VNSEFIVEVK ELDIENGTTT WQTVRRQKRE
60 70 80 90 100
WIKFAAACRE GEDNSKRNPI ARIRSDCEVS QRITYRISGA GIDRPPYGVF
110 120 130 140 150
TINPRTGEIN ITSVVDREIT PLFLIHCRAL NSRGEDLERP LELRVKVMDV
160 170 180 190 200
NDNPPVFTQN VYTANIEENS DANALVVKLS ATDADEDNHL NSKIAYKIIS
210 220 230 240 250
QEPAGAPMFM VNRYTGEVRT MSNFLDREQH SMYNLLVRGS DRDGATDGLS
260 270 280 290 300
SECDCRIKIL DVNDNFPILE KTSYSASIEE NCLSSELIRL QAIDLDEEGT
310 320 330 340 350
DNWLAQYSIL SGNDGNWFEI QTDPKTNEGI LKVVKMLDYE QEPNIYLSIG
360 370 380 390 400
VRNQAEFHHS VASQFQMHST PVRIQVVNVR EGPTFSPSSM TFSLRGGMRG
410 420 430 440 450
ASLMNYVLGT YTAIDMDTGN PATNVRYVIG HDAGSWLKVD SRTGEIQFSR
460 470 480 490 500
EFDMKSKYIT DGIYAAQILA IDDGSGRTAT GTICIEIPDA NDYCPVIYAE
510 520 530 540 550
SRSVCTHASS VRIYVNDHSF GSPFTFCVVD ESPDIANIWD IRSINGTSAI
560 570 580 590 600
LMTEQTLSPG PYQIPILVKD SHNRACELPQ TVLLDACFCD DHHVCLHSST
610 620 630 640 650
TGIYTGDITW VTDDMYGTVT DDGVRQSNVG LGPAGIGMII LGLLLLLLSP
660 670 680 690 700
LLLLMCCCKR RQPEGLGTRF APVPEGGEGV MQPWRIEGAH PEDRDVSNIC
710 720 730 740 750
VPMTASNTQD RIDSSEIYTN TYAGGGTVEG GVSGVELNTG VGTATGMVAA
760 770 780 790 800
GATGTLRKRS STIGTLREYQ DTGMNMAFLD SYFSEKAYAY ADEDEGRPAN
810 820 830 840 850
DCLLIYDHEG AGSPVGSIGC CSWIVDDLDE SYIETLDPKF RTLAEICLDT
860 870 880 890 900
EIEPFPSHQA CIPISTDLPL LGPNYFVNES SGMTLSEAEF QAEMAAASEP
910 920 930 940 950
MIHGDIIVTE TYTTSDPCVQ PTTIVFDSQI PPNVVVTETV MAPVYDVQGN
960 970 980 990 1000
ICVPAEIANT HNVYYAERVV ASPGIPDMGN SNISDACIGP VMSGGILVGP
1010 1020 1030 1040
EIQVTQMMSP DIHISQTTGS TSPMTSQHRV TRYSNMHYSR Q
Length:1,041
Mass (Da):114,449
Last modified:October 1, 2003 - v1
Checksum:i230ECC0553048B2B
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti196 – 1961Y → S in lah. 1 Publication

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY227349 mRNA. Translation: AAP44999.1.
AY191584 mRNA. Translation: AAO91793.1.
CCDSiCCDS29082.1.
RefSeqiNP_853543.1. NM_181564.2.
UniGeneiMm.358619.

Genome annotation databases

EnsembliENSMUST00000019426; ENSMUSP00000019426; ENSMUSG00000001804.
GeneIDi16769.
KEGGimmu:16769.
UCSCiuc008een.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY227349 mRNA. Translation: AAP44999.1.
AY191584 mRNA. Translation: AAO91793.1.
CCDSiCCDS29082.1.
RefSeqiNP_853543.1. NM_181564.2.
UniGeneiMm.358619.

3D structure databases

ProteinModelPortaliQ7TMD7.
SMRiQ7TMD7. Positions 47-573.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000019426.

PTM databases

iPTMnetiQ7TMD7.
PhosphoSiteiQ7TMD7.

Proteomic databases

MaxQBiQ7TMD7.
PaxDbiQ7TMD7.
PRIDEiQ7TMD7.

Protocols and materials databases

DNASUi16769.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000019426; ENSMUSP00000019426; ENSMUSG00000001804.
GeneIDi16769.
KEGGimmu:16769.
UCSCiuc008een.1. mouse.

Organism-specific databases

CTDi147409.
MGIiMGI:2661061. Dsg4.

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00760000118906.
HOGENOMiHOG000236266.
HOVERGENiHBG005532.
InParanoidiQ7TMD7.
KOiK07599.
OMAiPFTFCVV.
OrthoDBiEOG7FBRGV.
TreeFamiTF331809.

Miscellaneous databases

PROiQ7TMD7.
SOURCEiSearch...

Gene expression databases

BgeeiQ7TMD7.
CleanExiMM_DSG4.

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. 2 hits.
PfamiPF00028. Cadherin. 3 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]
ProtoNetiSearch...

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], FUNCTION, VARIANT LAH SER-196.
    Strain: PWK.
    Tissue: Skin.
  2. "Genomic sequence analysis of the mouse desmoglein cluster reveals evidence for six distinct genes: characterization of mouse DSG4, DSG5, and DSG6."
    Whittock N.V.
    J. Invest. Dermatol. 120:970-980(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    Tissue: Skin.

Entry informationi

Entry nameiDSG4_MOUSE
AccessioniPrimary (citable) accession number: Q7TMD7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2005
Last sequence update: October 1, 2003
Last modified: June 8, 2016
This is version 93 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.