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Identification
HMDB Protein ID HMDBP07657
Secondary Accession Numbers
  • 13366
Name Desmocollin-3
Synonyms
  1. Cadherin family member 3
  2. Desmocollin-4
  3. HT-CP
Gene Name DSC3
Protein Type Unknown
Biological Properties
General Function Involved in calcium ion binding
Specific 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
Pathways Not Available
Reactions Not Available
GO Classification
Component
membrane
cell part
membrane part
plasma membrane
intrinsic to membrane
integral to membrane
Function
ion binding
cation binding
metal ion binding
binding
calcium ion binding
Process
cell adhesion
cellular process
cell-cell adhesion
homophilic cell adhesion
Cellular Location
  1. Cell membrane
  2. Single-pass type I membrane protein
  3. Cell junction
  4. desmosome
Gene Properties
Chromosome Location Chromosome:1
Locus 18q12.1
SNPs DSC3
Gene Sequence
>2691 bp
ATGGCCGCCGCTGGGCCCCGGCGCTCCGTGCGCGGAGCCGTCTGCCTGCATCTGCTGCTG
ACCCTCGTGATCTTCAGTCGTGCTGGTGAAGCCTGCAAAAAGGTGATACTTAATGTACCT
TCTAAACTAGAGGCAGACAAAATAATTGGCAGAGTTAATTTGGAAGAGTGCTTCAGGTCT
GCAGACCTCATCCGGTCAAGTGATCCTGATTTCAGAGTTCTAAATGATGGGTCAGTGTAC
ACAGCCAGGGCTGTTGCGCTGTCTGATAAGAAAAGATCATTTACCATATGGCTTTCTGAC
AAAAGGAAACAGACACAGAAAGAGGTTACTGTGCTGCTAGAACATCAGAAGAAGGTATCG
AAGACAAGACACACTAGAGAAACTGTTCTCAGGCGTGCCAAGAGGAGATGGGCACCTATT
CCTTGCTCTATGCAAGAGAATTCCTTGGGCCCTTTCCCATTGTTTCTTCAACAAGTTGAA
TCTGATGCAGCACAGAACTATACTGTCTTCTACTCAATAAGTGGACGTGGAGTTGATAAA
GAACCTTTAAATTTGTTTTATATAGAAAGAGACACTGGAAATCTATTTTGCACTCGGCCT
GTGGATCGTGAAGAATATGATGTTTTTGATTTGATTGCTTATGCGTCAACTGCAGATGGA
TATTCAGCAGATCTGCCCCTCCCACTACCCATCAGGGTAGAGGATGAAAATGACAACCAC
CCTGTTTTCACAGAAGCAATTTATAATTTTGAAGTTTTGGAAAGTAGTAGACCTGGTACT
ACAGTGGGGGTGGTTTGTGCCACAGACAGAGATGAACCGGACACAATGCATACGCGCCTG
AAATACAGCATTTTGCAGCAGACACCAAGGTCACCTGGGCTCTTTTCTGTGCATCCCAGC
ACAGGCGTAATCACCACAGTCTCTCATTATTTGGACAGAGAGGTTGTAGACAAGTACTCA
TTGATAATGAAAGTACAAGACATGGATGGCCAGTTTTTTGGATTGATAGGCACATCAACT
TGTATCATAACAGTAACAGATTCAAATGATAATGCACCCACTTTCAGACAAAATGCTTAT
GAAGCATTTGTAGAGGAAAATGCATTCAATGTGGAAATCTTACGAATACCTATAGAAGAT
AAGGATTTAATTAACACTGCCAATTGGAGAGTCAATTTTACCATTTTAAAGGGAAATGAA
AATGGACATTTCAAAATCAGCACAGACAAAGAAACTAATGAAGGTGTTCTTTCTGTTGTA
AAGCCACTGAATTATGAAGAAAACCGTCAAGTGAACCTGGAAATTGGAGTAAACAATGAA
GCGCCATTTGCTAGAGATATTCCCAGAGTGACAGCCTTGAACAGAGCCTTGGTTACAGTT
CATGTGAGGGATCTGGATGAGGGGCCTGAATGCACTCCTGCAGCCCAATATGTGCGGATT
AAAGAAAACTTAGCAGTGGGGTCAAAGATCAACGGCTATAAGGCATATGACCCCGAAAAT
AGAAATGGCAATGGTTTAAGGTACAAAAAATTGCATGATCCTAAAGGTTGGATCACCATT
GATGAAATTTCAGGGTCAATCATAACTTCCAAAATCCTGGATAGGGAGGTTGAAACTCCC
AAAAATGAGTTGTATAATATTACAGTCCTGGCAATAGACAAAGATGATAGATCATGTACT
GGAACACTTGCTGTGAACATTGAAGATGTAAATGATAATCCACCAGAAATACTTCAAGAA
TATGTAGTCATTTGCAAACCAAAAATGGGGTATACCGACATTTTAGCTGTTGATCCTGAT
GAACCTGTCCATGGAGCTCCATTTTATTTCAGTTTGCCCAATACTTCTCCAGAAATCAGT
AGACTGTGGAGCCTCACCAAAGTTAATGATACAGCTGCCCGTCTTTCATATCAGAAAAAT
GCTGGATTTCAAGAATATACCATTCCTATTACTGTAAAAGACAGGGCCGGCCAAGCTGCA
ACAAAATTATTGAGAGTTAATCTGTGTGAATGTACTCATCCAACTCAGTGTCGTGCGACT
TCAAGGAGTACAGGAGTAATACTTGGAAAATGGGCAATCCTTGCAATATTACTGGGTATA
GCACTGCTCTTTTCTGTATTGCTAACTTTAGTATGTGGAGTTTTTGGTGCAACTAAAGGG
AAACGTTTTCCTGAAGATTTAGCACAGCAAAACTTAATTATATCAAACACAGAAGCACCT
GGAGACGATAGAGTGTGCTCTGCCAATGGATTTATGACCCAAACTACCAACAACTCTAGC
CAAGGTTTTTGTGGTACTATGGGATCAGGAATGAAAAATGGAGGGCAGGAAACCATTGAA
ATGATGAAAGGAGGAAACCAGACCTTGGAATCCTGCCGGGGGGCTGGGCATCATCATACC
CTGGACTCCTGCAGGGGAGGACACACGGAGGTGGACAACTGCAGATACACTTACTCGGAG
TGGCACAGTTTTACTCAACCCCGTCTCGGTGAAAAATTGCATCGATGTAATCAGAATGAA
GACCGCATGCCATCCCAAGATTATGTCCTCACTTATAACTATGAGGGAAGAGGATCTCCA
GCTGGTTCTGTGGGCTGCTGCAGTGAAAAGCAGGAAGAAGATGGCCTTGACTTTTTAAAT
AATTTGGAACCCAAATTTATTACATTAGCAGAAGCATGCACAAAGAGATAA
Protein Properties
Number of Residues 896
Molecular Weight 99968.1
Theoretical pI 5.98
Pfam Domain Function
Signals
  • 1-27
Transmembrane Regions
  • 691-711
Protein Sequence
>Desmocollin-3
MAAAGPRRSVRGAVCLHLLLTLVIFSRAGEACKKVILNVPSKLEADKIIGRVNLEECFRS
ADLIRSSDPDFRVLNDGSVYTARAVALSDKKRSFTIWLSDKRKQTQKEVTVLLEHQKKVS
KTRHTRETVLRRAKRRWAPIPCSMQENSLGPFPLFLQQVESDAAQNYTVFYSISGRGVDK
EPLNLFYIERDTGNLFCTRPVDREEYDVFDLIAYASTADGYSADLPLPLPIRVEDENDNH
PVFTEAIYNFEVLESSRPGTTVGVVCATDRDEPDTMHTRLKYSILQQTPRSPGLFSVHPS
TGVITTVSHYLDREVVDKYSLIMKVQDMDGQFFGLIGTSTCIITVTDSNDNAPTFRQNAY
EAFVEENAFNVEILRIPIEDKDLINTANWRVNFTILKGNENGHFKISTDKETNEGVLSVV
KPLNYEENRQVNLEIGVNNEAPFARDIPRVTALNRALVTVHVRDLDEGPECTPAAQYVRI
KENLAVGSKINGYKAYDPENRNGNGLRYKKLHDPKGWITIDEISGSIITSKILDREVETP
KNELYNITVLAIDKDDRSCTGTLAVNIEDVNDNPPEILQEYVVICKPKMGYTDILAVDPD
EPVHGAPFYFSLPNTSPEISRLWSLTKVNDTAARLSYQKNAGFQEYTIPITVKDRAGQAA
TKLLRVNLCECTHPTQCRATSRSTGVILGKWAILAILLGIALLFSVLLTLVCGVFGATKG
KRFPEDLAQQNLIISNTEAPGDDRVCSANGFMTQTTNNSSQGFCGTMGSGMKNGGQETIE
MMKGGNQTLESCRGAGHHHTLDSCRGGHTEVDNCRYTYSEWHSFTQPRLGEKLHRCNQNE
DRMPSQDYVLTYNYEGRGSPAGSVGCCSEKQEEDGLDFLNNLEPKFITLAEACTKR
GenBank ID Protein 148539846
UniProtKB/Swiss-Prot ID Q14574
UniProtKB/Swiss-Prot Entry Name DSC3_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_001941.3
GeneCard ID DSC3
GenAtlas ID DSC3
HGNC ID HGNC:3037
References
General References
  1. Zhang Y, Wolf-Yadlin A, Ross PL, Pappin DJ, Rush J, Lauffenburger DA, White FM: Time-resolved mass spectrometry of tyrosine phosphorylation sites in the epidermal growth factor receptor signaling network reveals dynamic modules. Mol Cell Proteomics. 2005 Sep;4(9):1240-50. Epub 2005 Jun 11. [PubMed:15951569 ]
  2. Nusbaum C, Zody MC, Borowsky ML, Kamal M, Kodira CD, Taylor TD, Whittaker CA, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Yang X, Abouelleil A, Allen NR, Anderson S, Bloom T, Bugalter B, Butler J, Cook A, DeCaprio D, Engels R, Garber M, Gnirke A, Hafez N, Hall JL, Norman CH, Itoh T, Jaffe DB, Kuroki Y, Lehoczky J, Lui A, Macdonald P, Mauceli E, Mikkelsen TS, Naylor JW, Nicol R, Nguyen C, Noguchi H, O'Leary SB, O'Neill K, Piqani B, Smith CL, Talamas JA, Topham K, Totoki Y, Toyoda A, Wain HM, Young SK, Zeng Q, Zimmer AR, Fujiyama A, Hattori M, Birren BW, Sakaki Y, Lander ES: DNA sequence and analysis of human chromosome 18. Nature. 2005 Sep 22;437(7058):551-5. [PubMed:16177791 ]
  3. Whittock NV, Hunt DM, Rickman L, Malhi S, Vogazianou AP, Dawson LF, Eady RA, Buxton RS, McGrath JA: Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3. Biochem Biophys Res Commun. 2000 Sep 24;276(2):454-60. [PubMed:11027496 ]
  4. Kawamura K, Watanabe K, Suzuki T, Yamakawa T, Kamiyama T, Nakagawa H, Tsurufuji S: cDNA cloning and expression of a novel human desmocollin. J Biol Chem. 1994 Oct 21;269(42):26295-302. [PubMed:7929347 ]
  5. King IA, Sullivan KH, Bennett R Jr, Buxton RS: The desmocollins of human foreskin epidermis: identification and chromosomal assignment of a third gene and expression patterns of the three isoforms. J Invest Dermatol. 1995 Sep;105(3):314-21. [PubMed:7665906 ]
  6. Ayub M, Basit S, Jelani M, Ur Rehman F, Iqbal M, Yasinzai M, Ahmad W: A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. Am J Hum Genet. 2009 Oct;85(4):515-20. doi: 10.1016/j.ajhg.2009.08.015. Epub 2009 Sep 17. [PubMed:19765682 ]