Q08554 (DSC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Desmocollin-1

Alternative name(s):
Cadherin family member 1
Desmosomal glycoprotein 2/3
Short name=DG2/DG3

Gene names

Name:	DSC1
Synonyms:	CDHF1

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	894 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. Linked to the keratinization of epithelial tissues.
Subunit structure	Binds to JUP/plakoglobin. Ref.7
Subcellular location	Cell membrane; Single-pass type I membrane protein. Cell junction › desmosome.
Tissue specificity	Strongly expressed in epidermis, less in lymph node and tongue.
Domain	Calcium may be bound by the cadherin-like repeats Potential. 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 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 Transmembrane helix
Ligand	Calcium Metal-binding
PTM	Cleavage on pair of basic residues Glycoprotein Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	homophilic cell adhesion Inferred from electronic annotation. Source: InterPro
Cellular_component	desmosome Inferred from electronic annotation. Source: UniProtKB-SubCell gap junction Traceable author statement PubMed 7679953. Source: ProtInc integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW membrane Traceable author statement PubMed 7679953. Source: ProtInc plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

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

Isoform 1A (identifier: Q08554-1)

Also known as: DG2;

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 1B (identifier: Q08554-2)

Also known as: DG3;

The sequence of this isoform differs from the canonical sequence as follows:
     830-840: KVYLCGQDEEH → ESIRGHTLIKN
     841-894: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 29	29	Potential
	Propeptide	30 – 134	105	Potential		PRO_0000003863
	Chain	135 – 894	760	Desmocollin-1		PRO_0000003864
Regions
	Topological domain	135 – 691	557	Extracellular Potential
	Transmembrane	692 – 714	23	Helical; Potential
	Topological domain	715 – 894	180	Cytoplasmic Potential
	Domain	135 – 242	108	Cadherin 1
	Domain	243 – 354	112	Cadherin 2
	Domain	355 – 471	117	Cadherin 3
	Domain	472 – 575	104	Cadherin 4
	Domain	576 – 682	107	Cadherin 5
Amino acid modifications
	Modified residue	385	1	Phosphothreonine Ref.6
	Glycosylation	165	1	N-linked (GlcNAc...) Potential
	Glycosylation	546	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	830 – 840	11	KVYLCGQDEEH → ESIRGHTLIKN in isoform 1B.		VSP_000651
	Alternative sequence	841 – 894	54	Missing in isoform 1B.		VSP_000652
	Natural variant	93	1	S → F. Corresponds to variant rs35338395 [ dbSNP | Ensembl ].		VAR_061059
	Natural variant	460	1	V → I. Corresponds to variant rs17800159 [ dbSNP | Ensembl ].		VAR_055579
	Natural variant	848	1	C → F. Ref.1 Corresponds to variant rs985861 [ dbSNP | Ensembl ].		VAR_055580
Experimental info
	Sequence conflict	132	1	S → T in CAA84278. Ref.1
	Sequence conflict	132	1	S → T in CAA84279. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1A (DG2) [UniParc]. Last modified February 10, 2009. Version 2. Checksum: 2E0C835F6FE2E77F	FASTA	894	99,987
	10 20 30 40 50 60 MALASAAPGS IFCKQLLFSL LVLTLLCDAC QKVYLRVPSH LQAETLVGKV NLEECLKSAS 70 80 90 100 110 120 LIRSSDPAFR ILEDGSIYTT HDLILSSERK SFSIFLSDGQ RREQQEIKVV LSARENKSPK 130 140 150 160 170 180 KRHTKDTALK RSKRRWAPIP ASLMENSLGP FPQHVQQIQS DAAQNYTIFY SISGPGVDKE 190 200 210 220 230 240 PFNLFYIEKD TGDIFCTRSI DREKYEQFAL YGYATTADGY APEYPLPLII KIEDDNDNAP 250 260 270 280 290 300 YFEHRVTIFT VPENCRSGTS VGKVTATDLD EPDTLHTRLK YKILQQIPDH PKHFSIHPDT 310 320 330 340 350 360 GVITTTTPFL DREKCDTYQL IMEVRDMGGQ PFGLFNTGTI TISLEDENDN PPSFTETSYV 370 380 390 400 410 420 TEVEENRIDV EILRMKVQDQ DLPNTPHSKA VYKILQGNEN GNFIISTDPN TNEGVLCVVK 430 440 450 460 470 480 PLNYEVNRQV ILQVGVINEA QFSKAASSQT PTMCTTTVTV KIIDSDEGPE CHPPVKVIQS 490 500 510 520 530 540 QDGFPAGQEL LGYKALDPEI SSGEGLRYQK LGDEDNWFEI NQHTGDLRTL KVLDRESKFV 550 560 570 580 590 600 KNNQYNISVV AVDAVGRSCT GTLVVHLDDY NDHAPQIDKE VTICQNNEDF AVLKPVDPDG 610 620 630 640 650 660 PENGPPFQFF LDNSASKNWN IEEKDGKTAI LRQRQNLDYN YYSVPIQIKD RHGLVATHML 670 680 690 700 710 720 TVRVCDCSTP SECRMKDKST RDVRPNVILG RWAILAMVLG SVLLLCILFT CFCVTAKRTV 730 740 750 760 770 780 KKCFPEDIAQ QNLIVSNTEG PGEEVTEANI RLPMQTSNIC DTSMSVGTVG GQGIKTQQSF 790 800 810 820 830 840 EMVKGGYTLD SNKGGGHQTL ESVKGVGQGD TGRYAYTDWQ SFTQPRLGEK VYLCGQDEEH 850 860 870 880 890 KHCEDYVCSY NYEGKGSLAG SVGCCSDRQE EEGLEFLDHL EPKFRTLAKT CIKK
	Isoform 1B (DG3) [UniParc]. Checksum: DF66432C933CC9D1	FASTA	840	93,835
	10 20 30 40 50 60 MALASAAPGS IFCKQLLFSL LVLTLLCDAC QKVYLRVPSH LQAETLVGKV NLEECLKSAS 70 80 90 100 110 120 LIRSSDPAFR ILEDGSIYTT HDLILSSERK SFSIFLSDGQ RREQQEIKVV LSARENKSPK 130 140 150 160 170 180 KRHTKDTALK RSKRRWAPIP ASLMENSLGP FPQHVQQIQS DAAQNYTIFY SISGPGVDKE 190 200 210 220 230 240 PFNLFYIEKD TGDIFCTRSI DREKYEQFAL YGYATTADGY APEYPLPLII KIEDDNDNAP 250 260 270 280 290 300 YFEHRVTIFT VPENCRSGTS VGKVTATDLD EPDTLHTRLK YKILQQIPDH PKHFSIHPDT 310 320 330 340 350 360 GVITTTTPFL DREKCDTYQL IMEVRDMGGQ PFGLFNTGTI TISLEDENDN PPSFTETSYV 370 380 390 400 410 420 TEVEENRIDV EILRMKVQDQ DLPNTPHSKA VYKILQGNEN GNFIISTDPN TNEGVLCVVK 430 440 450 460 470 480 PLNYEVNRQV ILQVGVINEA QFSKAASSQT PTMCTTTVTV KIIDSDEGPE CHPPVKVIQS 490 500 510 520 530 540 QDGFPAGQEL LGYKALDPEI SSGEGLRYQK LGDEDNWFEI NQHTGDLRTL KVLDRESKFV 550 560 570 580 590 600 KNNQYNISVV AVDAVGRSCT GTLVVHLDDY NDHAPQIDKE VTICQNNEDF AVLKPVDPDG 610 620 630 640 650 660 PENGPPFQFF LDNSASKNWN IEEKDGKTAI LRQRQNLDYN YYSVPIQIKD RHGLVATHML 670 680 690 700 710 720 TVRVCDCSTP SECRMKDKST RDVRPNVILG RWAILAMVLG SVLLLCILFT CFCVTAKRTV 730 740 750 760 770 780 KKCFPEDIAQ QNLIVSNTEG PGEEVTEANI RLPMQTSNIC DTSMSVGTVG GQGIKTQQSF 790 800 810 820 830 840 EMVKGGYTLD SNKGGGHQTL ESVKGVGQGD TGRYAYTDWQ SFTQPRLGEE SIRGHTLIKN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Differential synthesis of type 1 and type 2 desmocollin mRNAs in human stratified epithelia." Theis D.G., Koch P.J., Franke W.W. Int. J. Dev. Biol. 37:101-110(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A AND 1B), VARIANT PHE-848. Tissue: Foreskin.
[2]	"Cloning of the cDNA (DSC1) coding for human type 1 desmocollin and its assignment to chromosome 18." King I.A., Arnemann J., Spurr N.K., Buxton R.S. Genomics 18:185-194(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A AND 1B). Tissue: Skin.
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Keratinization is associated with the expression of a new protein related to the desmosomal cadherins DGII/III." King I.A., Magee A.I., Rees D.A., Buxton R.S. FEBS Lett. 286:9-12(1991) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 135-151 AND 283-292.
[6]	"Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line." Giorgianni F., Zhao Y., Desiderio D.M., Beranova-Giorgianni S. Electrophoresis 28:2027-2034(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-385, MASS SPECTROMETRY. Tissue: Prostate cancer.
[7]	"Interactions of plakoglobin and beta-catenin with desmosomal cadherins: basis of selective exclusion of alpha- and beta-catenin from desmosomes." Choi H.J., Gross J.C., Pokutta S., Weis W.I. J. Biol. Chem. 284:31776-31788(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH JUP/PLAKOGLOBIN.
[8]	"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	Z34522 mRNA. Translation: CAA84279.1. Z34522 mRNA. Translation: CAA84278.1. X72925 mRNA. Translation: CAA51428.1. X72925 mRNA. Translation: CAA51429.1. AF293358 Genomic DNA. Translation: AAG23424.1. CH471088 Genomic DNA. Translation: EAX01252.1.
IPI	IPI00216099. IPI00386975.
PIR	A48910. I37281. I37282.
RefSeq	NP_004939.1. NM_004948.3. NP_077739.1. NM_024421.2.
UniGene	Hs.567260.
3D structure databases
ProteinModelPortal	Q08554.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q08554. 4 interactions.
STRING	9606.ENSP00000257198.
PTM databases
PhosphoSite	Q08554.
Polymorphism databases
DMDM	223590198.
Proteomic databases
PaxDb	Q08554.
PRIDE	Q08554.
Protocols and materials databases
DNASU	1823.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000257197; ENSP00000257197; ENSG00000134765. ENST00000257198; ENSP00000257198; ENSG00000134765.
GeneID	1823.
KEGG	hsa:1823.
UCSC	uc002kwn.3. human.
Organism-specific databases
CTD	1823.
GeneCards	GC18M028732.
H-InvDB	HIX0039739.
HGNC	HGNC:3035. DSC1.
HPA	HPA012891.
MIM	125643. gene.
neXtProt	NX_Q08554.
PharmGKB	PA27488.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG304955.
HOGENOM	HOG000231253.
HOVERGEN	HBG102801.
InParanoid	Q08554.
KO	K07600.
OMA	IKDRHGL.
PhylomeDB	Q08554.
Gene expression databases
ArrayExpress	Q08554.
Bgee	Q08554.
CleanEx	HS_DSC1.
Genevestigator	Q08554.
GermOnline	ENSG00000134765. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.60. 6 hits.
InterPro	IPR002126. Cadherin. IPR015919. Cadherin-like. IPR009124. Cadherin/Desmocollin. IPR020894. Cadherin_CS. IPR000233. Cadherin_cytoplasmic-dom. IPR014868. Cadherin_pro_dom. IPR009122. Desmosomal_cadherin. [Graphical view]
PANTHER	PTHR24025. PTHR24025. 1 hit.
Pfam	PF00028. Cadherin. 4 hits. PF01049. Cadherin_C. 1 hit. PF08758. Cadherin_pro. 1 hit. [Graphical view]
PRINTS	PR00205. CADHERIN. PR01818. DESMOCADHERN. PR01820. DESMOCOLLIN.
SMART	SM00112. CA. 5 hits. SM01055. Cadherin_pro. 1 hit. [Graphical view]
SUPFAM	SSF49313. Cadherin. 6 hits.
PROSITE	PS00232. CADHERIN_1. 3 hits. PS50268. CADHERIN_2. 5 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	1823.
NextBio	7431.
SOURCE	Search...

Entry information

Entry name

DSC1_HUMAN

Accession

Primary (citable) accession number: Q08554
Secondary accession number(s): Q9HB01

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	February 10, 2009
Last modified:	May 1, 2013
This is version 117 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.