P32926 (DSG3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Desmoglein-3

Alternative name(s):
130 kDa pemphigus vulgaris antigen
Short name=PVA
Cadherin family member 6

Gene names

Name:	DSG3
Synonyms:	CDHF6

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	999 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.
Subcellular location	Cell membrane; Single-pass type I membrane protein By similarity. Cell junction › desmosome By similarity.
Tissue specificity	Epidermis, tongue, tonsil, esophagus and carcinomas.
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.
Miscellaneous	Pemphigus vulgaris (PV) is a potentially lethal skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion caused by the action of autoantibodies against desmoglein 3.
Sequence similarities	Contains 4 cadherin domains.

Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Cell junction Cell membrane Membrane
Coding sequence diversity	Polymorphism
Domain	Repeat Signal Transmembrane Transmembrane helix
Ligand	Calcium Metal-binding
PTM	Cleavage on pair of basic residues Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular component disassembly involved in execution phase of apoptosis Traceable author statement. Source: Reactome homophilic cell adhesion Inferred from electronic annotation. Source: InterPro
Cellular_component	cytosol Traceable author statement. Source: Reactome desmosome Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Traceable author statement. Source: Reactome
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 23	23	Potential
	Propeptide	24 – 49	26	Potential		PRO_0000003851
	Chain	50 – 999	950	Desmoglein-3		PRO_0000003852
Regions
	Topological domain	50 – 615	566	Extracellular Potential
	Transmembrane	616 – 640	25	Helical; Potential
	Topological domain	641 – 999	359	Cytoplasmic Potential
	Domain	50 – 158	109	Cadherin 1
	Domain	159 – 268	110	Cadherin 2
	Domain	269 – 383	115	Cadherin 3
	Domain	386 – 499	114	Cadherin 4
	Repeat	910 – 935	26	Desmoglein repeat 1
	Repeat	936 – 966	31	Desmoglein repeat 2
Amino acid modifications
	Glycosylation	110	1	N-linked (GlcNAc...) Potential
	Glycosylation	180	1	N-linked (GlcNAc...) Potential
	Glycosylation	459	1	N-linked (GlcNAc...) Ref.4
	Glycosylation	545	1	N-linked (GlcNAc...) Ref.4
Natural variations
	Natural variant	509	1	V → M. Corresponds to variant rs16961975 [ dbSNP | Ensembl ].		VAR_055578
	Natural variant	912	1	T → A. Ref.1 Ref.2 Corresponds to variant rs1380866 [ dbSNP | Ensembl ].		VAR_059178
Experimental info
	Sequence conflict	110	1	N → D in BAF83056. Ref.2
	Sequence conflict	298	1	T → A in BAF83056. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	P32926 [UniParc]. Last modified June 16, 2009. Version 2. Checksum: 7553CC917E8719BA	FASTA	999	107,533
	10 20 30 40 50 60 MMGLFPRTTG ALAIFVVVIL VHGELRIETK GQYDEEEMTM QQAKRRQKRE WVKFAKPCRE 70 80 90 100 110 120 GEDNSKRNPI AKITSDYQAT QKITYRISGV GIDQPPFGIF VVDKNTGDIN ITAIVDREET 130 140 150 160 170 180 PSFLITCRAL NAQGLDVEKP LILTVKILDI NDNPPVFSQQ IFMGEIEENS ASNSLVMILN 190 200 210 220 230 240 ATDADEPNHL NSKIAFKIVS QEPAGTPMFL LSRNTGEVRT LTNSLDREQA SSYRLVVSGA 250 260 270 280 290 300 DKDGEGLSTQ CECNIKVKDV NDNFPMFRDS QYSARIEENI LSSELLRFQV TDLDEEYTDN 310 320 330 340 350 360 WLAVYFFTSG NEGNWFEIQT DPRTNEGILK VVKALDYEQL QSVKLSIAVK NKAEFHQSVI 370 380 390 400 410 420 SRYRVQSTPV TIQVINVREG IAFRPASKTF TVQKGISSKK LVDYILGTYQ AIDEDTNKAA 430 440 450 460 470 480 SNVKYVMGRN DGGYLMIDSK TAEIKFVKNM NRDSTFIVNK TITAEVLAID EYTGKTSTGT 490 500 510 520 530 540 VYVRVPDFND NCPTAVLEKD AVCSSSPSVV VSARTLNNRY TGPYTFALED QPVKLPAVWS 550 560 570 580 590 600 ITTLNATSAL LRAQEQIPPG VYHISLVLTD SQNNRCEMPR SLTLEVCQCD NRGICGTSYP 610 620 630 640 650 660 TTSPGTRYGR PHSGRLGPAA IGLLLLGLLL LLLAPLLLLT CDCGAGSTGG VTGGFIPVPD 670 680 690 700 710 720 GSEGTIHQWG IEGAHPEDKE ITNICVPPVT ANGADFMESS EVCTNTYARG TAVEGTSGME 730 740 750 760 770 780 MTTKLGAATE SGGAAGFATG TVSGAASGFG AATGVGICSS GQSGTMRTRH STGGTNKDYA 790 800 810 820 830 840 DGAISMNFLD SYFSQKAFAC AEEDDGQEAN DCLLIYDNEG ADATGSPVGS VGCCSFIADD 850 860 870 880 890 900 LDDSFLDSLG PKFKKLAEIS LGVDGEGKEV QPPSKDSGYG IESCGHPIEV QQTGFVKCQT 910 920 930 940 950 960 LSGSQGASAL STSGSVQPAV SIPDPLQHGN YLVTETYSAS GSLVQPSTAG FDPLLTQNVI 970 980 990 VTERVICPIS SVPGNLAGPT QLRGSHTMLC TEDPCSRLI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Autoantibodies against a novel epithelial cadherin in pemphigus vulgaris, a disease of cell adhesion." Amagai M., Klaus-Kovtun V., Stanley J.R. Cell 67:869-877(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN PEMPHIGUS VULGARIS, VARIANT ALA-912.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-912. Tissue: Tongue.
[3]	"DNA sequence and analysis of human chromosome 18." Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S. Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry." Ramachandran P., Boontheung P., Xie Y., Sondej M., Wong D.T., Loo J.A. J. Proteome Res. 5:1493-1503(2006) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-459 AND ASN-545, MASS SPECTROMETRY. Tissue: Saliva.
[5]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	M76482 mRNA. Translation: AAA60230.1. AK290367 mRNA. Translation: BAF83056.1. AC021549 mRNA. No translation available.
IPI	IPI00031547.
PIR	IJHUG3. A41088.
RefSeq	NP_001935.2. NM_001944.2.
UniGene	Hs.1925.
3D structure databases
ProteinModelPortal	P32926.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000257189.
Protein family/group databases
Allergome	8248. Hom s DSG3.
PTM databases
PhosphoSite	P32926.
Polymorphism databases
DMDM	239938621.
Proteomic databases
PaxDb	P32926.
PRIDE	P32926.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000257189; ENSP00000257189; ENSG00000134757.
GeneID	1830.
KEGG	hsa:1830.
UCSC	uc002kws.3. human.
Organism-specific databases
CTD	1830.
GeneCards	GC18P029050.
H-InvDB	HIX0027375.
HGNC	HGNC:3050. DSG3.
HPA	CAB002792.
MIM	169615. gene.
neXtProt	NX_P32926.
PharmGKB	PA27503.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG290138.
HOGENOM	HOG000236266.
HOVERGEN	HBG005532.
InParanoid	P32926.
KO	K07598.
OMA	YFFTSGN.
OrthoDB	EOG4ZS92C.
PhylomeDB	P32926.
Enzyme and pathway databases
Reactome	REACT_578. Apoptosis.
Gene expression databases
Bgee	P32926.
CleanEx	HS_DSG3.
Genevestigator	P32926.
GermOnline	ENSG00000134757. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.60. 4 hits.
InterPro	IPR002126. Cadherin. IPR015919. Cadherin-like. IPR020894. Cadherin_CS. IPR000233. Cadherin_cytoplasmic-dom. IPR009123. Desmoglein. IPR009122. Desmosomal_cadherin. [Graphical view]
PANTHER	PTHR24025. PTHR24025. 1 hit.
Pfam	PF00028. Cadherin. 3 hits. PF01049. Cadherin_C. 1 hit. [Graphical view]
PRINTS	PR00205. CADHERIN. PR01818. DESMOCADHERN. PR01819. DESMOGLEIN.
SMART	SM00112. CA. 4 hits. [Graphical view]
SUPFAM	SSF49313. Cadherin. 4 hits.
PROSITE	PS00232. CADHERIN_1. 3 hits. PS50268. CADHERIN_2. 4 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	1830.
NextBio	7469.
PMAP-CutDB	P32926.
SOURCE	Search...

Entry information

Entry name

DSG3_HUMAN

Accession

Primary (citable) accession number: P32926
Secondary accession number(s): A8K2V2

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1993
Last sequence update:	June 16, 2009
Last modified:	May 1, 2013
This is version 116 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.