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Q86SJ6 (DSG4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Desmoglein-4
Alternative name(s):
Cadherin family member 13
Gene names
Name:DSG4
Synonyms:CDHF13
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1040 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Cell membrane; Single-pass type I membrane protein By similarity. Cell junctiondesmosome By similarity Ref.1.

Tissue specificity

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. Ref.1 Ref.2

Domain

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.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

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.

Sequence similarities

Contains 4 cadherin domains.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q86SJ6-1)

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.
Isoform 2 (identifier: Q86SJ6-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2323 Potential
Propeptide24 – 4926 Potential
PRO_0000003855
Chain50 – 1040991Desmoglein-4
PRO_0000003856

Regions

Topological domain50 – 631582Extracellular Potential
Transmembrane632 – 65221Helical; Potential
Topological domain653 – 1040388Cytoplasmic Potential
Domain50 – 157108Cadherin 1
Domain158 – 269112Cadherin 2
Domain270 – 385116Cadherin 3
Domain386 – 497112Cadherin 4
Repeat884 – 90926Desmoglein repeat 1
Repeat910 – 94031Desmoglein repeat 2

Amino acid modifications

Glycosylation1101N-linked (GlcNAc...) Potential
Glycosylation5451N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence692 – 71120DVSNI…DRMDS → LFSAYALPGGGGTADGGGSV LGRCALQATPALLNQHPPF in isoform 2.
VSP_012907
Natural variant125 – 335211Missing in HYPT6.
VAR_021291
Natural variant1541A → T.
Corresponds to variant rs13381457 [ dbSNP | Ensembl ].
VAR_048514
Natural variant5351I → T.
Corresponds to variant rs7229252 [ dbSNP | Ensembl ].
VAR_033700
Natural variant6441I → L. Ref.5
Corresponds to variant rs4799570 [ dbSNP | Ensembl ].
VAR_024387

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2003. Version 1.
Checksum: 0385401584C55CF6

FASTA1,040113,824
        10         20         30         40         50         60 
MDWLFFRNIC LLIILMVVME VNSEFIVEVK EFDIENGTTK WQTVRRQKRE WIKFAAACRE 

        70         80         90        100        110        120 
GEDNSKRNPI AKIRSDCESN QKITYRISGV GIDRPPYGVF TINPRTGEIN ITSVVDREIT 

       130        140        150        160        170        180 
PLFLIYCRAL NSRGEDLERP LELRVKVMDI NDNAPVFSQS VYTASIEENS DANTLVVKLC 

       190        200        210        220        230        240 
ATDADEENHL NSKIAYKIVS QEPSGAPMFI LNRYTGEVCT MSSFLDREQH SMYNLVVRGS 

       250        260        270        280        290        300 
DRDGAADGLS SECDCRIKVL DVNDNFPTLE KTSYSASIEE NCLSSELIRL QAIDLDEEGT 

       310        320        330        340        350        360 
DNWLAQYLIL SGNDGNWFDI QTDPQTNEGI LKVVKMLDYE QAPNIQLSIG VKNQADFHYS 

       370        380        390        400        410        420 
VASQFQMHPT PVRIQVVDVR EGPAFHPSTM AFSVREGIKG SSLLNYVLGT YTAIDLDTGN 

       430        440        450        460        470        480 
PATDVRYIIG HDAGSWLKID SRTGEIQFSR EFDKKSKYII NGIYTAEILA IDDGSGKTAT 

       490        500        510        520        530        540 
GTICIEVPDI NDYCPNIFPE RRTICIDSPS VLISVNEHSY GSPFTFCVVD EPPGIADMWD 

       550        560        570        580        590        600 
VRSTNATSAI LTAKQVLSPG FYEIPILVKD SYNRACELAQ MVQLYACDCD DNHMCLDSGA 

       610        620        630        640        650        660 
AGIYTEDITG DTYGPVTEDQ AGVSNVGLGP AGIGMMVLGI LLLILAPLLL LLCCCKQRQP 

       670        680        690        700        710        720 
EGLGTRFAPV PEGGEGVMQS WRIEGAHPED RDVSNICAPM TASNTQDRMD SSEIYTNTYA 

       730        740        750        760        770        780 
AGGTVEGGVS GVELNTGMGT AVGLMAAGAA GASGAARKRS STMGTLRDYA DADINMAFLD 

       790        800        810        820        830        840 
SYFSEKAYAY ADEDEGRPAN DCLLIYDHEG VGSPVGSIGC CSWIVDDLDE SCMETLDPKF 

       850        860        870        880        890        900 
RTLAEICLNT EIEPFPSHQA CIPISTDLPL LGPNYFVNES SGLTPSEVEF QEEMAASEPV 

       910        920        930        940        950        960 
VHGDIIVTET YGNADPCVQP TTIIFDPQLA PNVVVTEAVM APVYDIQGNI CVPAELADYN 

       970        980        990       1000       1010       1020 
NVIYAERVLA SPGVPDMSNS STTEGCMGPV MSGNILVGPE IQVMQMMSPD LPIGQTVGST 

      1030       1040 
SPMTSRHRVT RYSNIHYTQQ 

« Hide

Isoform 2 [UniParc].

Checksum: EA475FD4C2244624
Show »

FASTA1,059115,451

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001127925.1. NM_001134453.1.
NP_817123.1. NM_177986.3.
UniGeneHs.407618.

3D structure databases

ProteinModelPortalQ86SJ6.
SMRQ86SJ6. Positions 24-573, 756-847.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ86SJ6. 1 interaction.
STRING9606.ENSP00000352785.

PTM databases

PhosphoSiteQ86SJ6.

Polymorphism databases

DMDM60389774.

Proteomic databases

PaxDbQ86SJ6.
PeptideAtlasQ86SJ6.
PRIDEQ86SJ6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000308128; ENSP00000311859; ENSG00000175065. [Q86SJ6-1]
ENST00000359747; ENSP00000352785; ENSG00000175065. [Q86SJ6-2]
GeneID147409.
KEGGhsa:147409.
UCSCuc002kwq.2. human. [Q86SJ6-1]
uc002kwr.2. human. [Q86SJ6-2]

Organism-specific databases

CTD147409.
GeneCardsGC18P028956.
HGNCHGNC:21307. DSG4.
HPAHPA059456.
MIM607892. gene.
607903. phenotype.
neXtProtNX_Q86SJ6.
Orphanet55654. Hypotrichosis simplex.
573. Monilethrix.
PharmGKBPA134925919.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG250212.
HOGENOMHOG000236266.
HOVERGENHBG005532.
KOK07599.
OMAWRIEGAH.
OrthoDBEOG7FBRGV.
PhylomeDBQ86SJ6.
TreeFamTF331809.

Gene expression databases

BgeeQ86SJ6.
CleanExHS_DSG4.
GenevestigatorQ86SJ6.

Family and domain databases

Gene3D2.60.40.60. 4 hits.
4.10.900.10. 1 hit.
InterProIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR000233. Cadherin_cytoplasmic-dom.
IPR027397. Catenin_binding_dom.
IPR009123. Desmoglein.
IPR009122. Desmosomal_cadherin.
[Graphical view]
PANTHERPTHR24025. PTHR24025. 1 hit.
PfamPF00028. Cadherin. 4 hits.
PF01049. Cadherin_C. 1 hit.
[Graphical view]
PRINTSPR00205. CADHERIN.
PR01818. DESMOCADHERN.
PR01819. DESMOGLEIN.
SMARTSM00112. CA. 4 hits.
[Graphical view]
SUPFAMSSF49313. SSF49313. 4 hits.
PROSITEPS00232. CADHERIN_1. 2 hits.
PS50268. CADHERIN_2. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDSG4.
GenomeRNAi147409.
NextBio85608.
PROQ86SJ6.
SOURCESearch...

Entry information

Entry nameDSG4_HUMAN
AccessionPrimary (citable) accession number: Q86SJ6
Secondary accession number(s): A2RUI1, Q6Y9L9, Q8IXV4
Entry history
Integrated into UniProtKB/Swiss-Prot: March 1, 2005
Last sequence update: June 1, 2003
Last modified: March 19, 2014
This is version 100 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM