Reviewed, UniProtKB/Swiss-Prot Q14574 (DSC3_HUMAN)

Names and origin

Protein names

Recommended name:
    Desmocollin-3
Alternative name(s):
    Desmocollin-4
    HT-CP

Gene names

Name:	DSC3
Synonyms:	CDHF3, DSC4

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	896 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. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.
Subcellular location	Cell membrane; Single-pass type I membrane protein. Cell junction › desmosome.
Tissue specificity	Epidermis, buccal mucosa, esophagus and cervix.
Domain	Calcium may be bound by the cadherin-like repeats Potential.
Sequence similarities	Contains 5 cadherin domains.

Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Cell junction Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Signal Transmembrane
Ligand	Calcium
PTM	Cleavage on pair of basic residues Glycoprotein Phosphoprotein
Technical term	Direct protein sequencing
Gene Ontology (GO)
Biological process	homophilic cell adhesion Inferred from electronic annotation. Source: InterPro
Cellular component	desmosome Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW membrane fraction Ref.1 Traceable author statement. Source: ProtInc
Molecular function	calcium ion binding Inferred from electronic annotation. Source: UniProtKB-KW protein binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 3A (identifier: Q14574-1)

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 3B (identifier: Q14574-2)

The sequence of this isoform differs from the canonical sequence as follows:
     832-839: KLHRCNQN → ESIRGHTG
     840-896: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 27	27	Potential
	Propeptide	28 – 135	108	Potential		PRO_0000003875
	Chain	136 – 896	761	Desmocollin-3		PRO_0000003876
Regions
	Topological domain	136 – 690	555	Extracellular Potential
	Transmembrane	691 – 711	21	Potential
	Topological domain	712 – 896	185	Cytoplasmic Potential
	Domain	136 – 243	108	Cadherin 1
	Domain	244 – 355	112	Cadherin 2
	Domain	356 – 471	116	Cadherin 3
	Domain	472 – 579	108	Cadherin 4
	Domain	580 – 690	111	Cadherin 5
Amino acid modifications
	Modified residue	818	1	Phosphotyrosine Ref.5
	Glycosylation	166	1	N-linked (GlcNAc...) Potential
	Glycosylation	392	1	N-linked (GlcNAc...) Potential
	Glycosylation	546	1	N-linked (GlcNAc...) Potential
	Glycosylation	629	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	832 – 839	8	KLHRCNQN → ESIRGHTG in isoform 3B.		VSP_000663
	Alternative sequence	840 – 896	57	Missing in isoform 3B.		VSP_000664
	Natural variant	28	1	A → D: dbSNP rs2852003. Ref.2 Ref.3		VAR_048515
	Natural variant	78	1	S → T: dbSNP rs276937.		VAR_048516
	Natural variant	102	1	R → K: dbSNP rs276938.		VAR_048517
	Natural variant	180	1	K → Q: dbSNP rs35296997.		VAR_048518
	Natural variant	199	1	R → W: dbSNP rs276921.		VAR_048519
	Natural variant	239	1	N → S: dbSNP rs35630063.		VAR_048520

Sequences

	Sequence		Length	Mass (Da)
	Isoform 3A [UniParc]. Last modified October 17, 2006. Version 3. Checksum: 6685B0A8B4C1ED85	FASTA	896	99,969
	10 20 30 40 50 60 MAAAGPRRSV RGAVCLHLLL TLVIFSRAGE ACKKVILNVP SKLEADKIIG RVNLEECFRS 70 80 90 100 110 120 ADLIRSSDPD FRVLNDGSVY TARAVALSDK KRSFTIWLSD KRKQTQKEVT VLLEHQKKVS 130 140 150 160 170 180 KTRHTRETVL RRAKRRWAPI PCSMQENSLG PFPLFLQQVE SDAAQNYTVF YSISGRGVDK 190 200 210 220 230 240 EPLNLFYIER DTGNLFCTRP VDREEYDVFD LIAYASTADG YSADLPLPLP IRVEDENDNH 250 260 270 280 290 300 PVFTEAIYNF EVLESSRPGT TVGVVCATDR DEPDTMHTRL KYSILQQTPR SPGLFSVHPS 310 320 330 340 350 360 TGVITTVSHY LDREVVDKYS LIMKVQDMDG QFFGLIGTST CIITVTDSND NAPTFRQNAY 370 380 390 400 410 420 EAFVEENAFN VEILRIPIED KDLINTANWR VNFTILKGNE NGHFKISTDK ETNEGVLSVV 430 440 450 460 470 480 KPLNYEENRQ VNLEIGVNNE APFARDIPRV TALNRALVTV HVRDLDEGPE CTPAAQYVRI 490 500 510 520 530 540 KENLAVGSKI NGYKAYDPEN RNGNGLRYKK LHDPKGWITI DEISGSIITS KILDREVETP 550 560 570 580 590 600 KNELYNITVL AIDKDDRSCT GTLAVNIEDV NDNPPEILQE YVVICKPKMG YTDILAVDPD 610 620 630 640 650 660 EPVHGAPFYF SLPNTSPEIS RLWSLTKVND TAARLSYQKN AGFQEYTIPI TVKDRAGQAA 670 680 690 700 710 720 TKLLRVNLCE CTHPTQCRAT SRSTGVILGK WAILAILLGI ALLFSVLLTL VCGVFGATKG 730 740 750 760 770 780 KRFPEDLAQQ NLIISNTEAP GDDRVCSANG FMTQTTNNSS QGFCGTMGSG MKNGGQETIE 790 800 810 820 830 840 MMKGGNQTLE SCRGAGHHHT LDSCRGGHTE VDNCRYTYSE WHSFTQPRLG EKLHRCNQNE 850 860 870 880 890 DRMPSQDYVL TYNYEGRGSP AGSVGCCSEK QEEDGLDFLN NLEPKFITLA EACTKR
	Isoform 3B. Checksum: 2C6F1C1FDE7A1350	FASTA	839	93,454
	10 20 30 40 50 60 MAAAGPRRSV RGAVCLHLLL TLVIFSRAGE ACKKVILNVP SKLEADKIIG RVNLEECFRS 70 80 90 100 110 120 ADLIRSSDPD FRVLNDGSVY TARAVALSDK KRSFTIWLSD KRKQTQKEVT VLLEHQKKVS 130 140 150 160 170 180 KTRHTRETVL RRAKRRWAPI PCSMQENSLG PFPLFLQQVE SDAAQNYTVF YSISGRGVDK 190 200 210 220 230 240 EPLNLFYIER DTGNLFCTRP VDREEYDVFD LIAYASTADG YSADLPLPLP IRVEDENDNH 250 260 270 280 290 300 PVFTEAIYNF EVLESSRPGT TVGVVCATDR DEPDTMHTRL KYSILQQTPR SPGLFSVHPS 310 320 330 340 350 360 TGVITTVSHY LDREVVDKYS LIMKVQDMDG QFFGLIGTST CIITVTDSND NAPTFRQNAY 370 380 390 400 410 420 EAFVEENAFN VEILRIPIED KDLINTANWR VNFTILKGNE NGHFKISTDK ETNEGVLSVV 430 440 450 460 470 480 KPLNYEENRQ VNLEIGVNNE APFARDIPRV TALNRALVTV HVRDLDEGPE CTPAAQYVRI 490 500 510 520 530 540 KENLAVGSKI NGYKAYDPEN RNGNGLRYKK LHDPKGWITI DEISGSIITS KILDREVETP 550 560 570 580 590 600 KNELYNITVL AIDKDDRSCT GTLAVNIEDV NDNPPEILQE YVVICKPKMG YTDILAVDPD 610 620 630 640 650 660 EPVHGAPFYF SLPNTSPEIS RLWSLTKVND TAARLSYQKN AGFQEYTIPI TVKDRAGQAA 670 680 690 700 710 720 TKLLRVNLCE CTHPTQCRAT SRSTGVILGK WAILAILLGI ALLFSVLLTL VCGVFGATKG 730 740 750 760 770 780 KRFPEDLAQQ NLIISNTEAP GDDRVCSANG FMTQTTNNSS QGFCGTMGSG MKNGGQETIE 790 800 810 820 830 MMKGGNQTLE SCRGAGHHHT LDSCRGGHTE VDNCRYTYSE WHSFTQPRLG EESIRGHTG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"cDNA cloning and expression of a novel human desmocollin." Kawamura K., Watanabe K., Suzuki T., Yamakawa T., Kamiyama T., Nakagawa H., Tsurufuji S. J. Biol. Chem. 269:26295-26302(1994) [PubMed: 7929347] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE. Tissue: Urinary bladder carcinoma.
[2]	"The desmocollins of human foreskin epidermis: identification and chromosomal assignment of a third gene and expression patterns of the three isoforms." King I.A., Sullivan K.H., Bennett R. Jr., Buxton R.S. J. Invest. Dermatol. 105:314-321(1995) [PubMed: 7665906] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3A), VARIANT ASP-28. Tissue: Foreskin and Keratinocyte.
[3]	"Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3." Whittock N.V., Hunt D.M., Rickman L., Malhi S., Vogazianou A.P., Dawson L.F., Eady R.A.J., Buxton R.S., McGrath J.A. Biochem. Biophys. Res. Commun. 276:454-460(2000) [PubMed: 11027496] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 3A AND 3B), VARIANT ASP-28.
[4]	"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: 16177791] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Time-resolved mass spectrometry of tyrosine phosphorylation sites in the epidermal growth factor receptor signaling network reveals dynamic modules." Zhang Y., Wolf-Yadlin A., Ross P.L., Pappin D.J., Rush J., Lauffenburger D.A., White F.M. Mol. Cell. Proteomics 4:1240-1250(2005) [PubMed: 15951569] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-818, MASS SPECTROMETRY. Tissue: Epithelium.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	D17427 mRNA. Translation: BAA04249.1. X83929 mRNA. Translation: CAA58781.1. AF293359 Genomic DNA. Translation: AAG23426.1. AF293359 Genomic DNA. Translation: AAG23427.1. AC025212 Genomic DNA. No translation available.
IPI	IPI00031549. IPI00218928.
PIR	A55363.
RefSeq	NP_001932.2. NP_077741.2.
UniGene	Hs.41690
3D structure databases
HSSP	HSSP built from PDB template 1NCJ based on UniProtKB P15116.
ModBase	Search...
PTM databases
PhosphoSite	Q14574.
Proteomic databases
PRIDE	Q14574.
Genome annotation databases
Ensembl	ENSG00000134762. Homo sapiens. [Contig view]
GeneID	1825.
KEGG	hsa:1825.
Organism-specific databases
GeneCards	GC18M026825.
H-InvDB	HIX0017967.
HGNC	HGNC:3037. DSC3.
MIM	600271. gene.
PharmGKB	PA27490.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q14574.
HOVERGEN	Q14574.
OMA	Q14574. VNLCDCT.
Gene expression databases
ArrayExpress	Q14574.
Bgee	Q14574.
CleanEx	HS_DSC3.
GermOnline	ENSG00000134762. Homo sapiens.
Family and domain databases
InterPro	IPR002126. Cadherin. IPR014868. Cadherin_pro. IPR009122. Desmo_cadherin. IPR009124. Desmocollin. [Graphical view]
Gene3D	G3DSA:2.60.40.60. Cadherin. 4 hits.
Pfam	PF00028. Cadherin. 5 hits. PF08758. Cadherin_pro. 1 hit. [Graphical view]
PRINTS	PR00205. CADHERIN. PR01818. DESMOCADHERN. PR01820. DESMOCOLLIN.
SMART	SM00112. CA. 5 hits. [Graphical view]
PROSITE	PS00232. CADHERIN_1. 3 hits. PS50268. CADHERIN_2. 5 hits. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	7443.
SOURCE	Search...

Entry information

Entry name

DSC3_HUMAN

Accession

Primary (citable) accession number: Q14574
Secondary accession number(s): A6NN35, Q14200, Q9HAZ9

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	October 17, 2006
Last modified:	June 16, 2009
This is version 81 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)