Human Metabolome Database: Showing Protein Desmocollin-3 (HMDBP07657)

Identification Biological properties Gene properties Protein properties External links References XML Show 1 metabolite

Identification

HMDB Protein ID

HMDBP07657

Secondary Accession Numbers

13366

Name

Desmocollin-3

Synonyms

Cadherin family member 3
Desmocollin-4
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

Cell membrane
Single-pass type I membrane protein
Cell junction
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

Cadherin (PF00028 )
Cadherin_C (PF01049 )
Cadherin_pro (PF08758 )

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

External Links

GenBank ID Protein

148539846

UniProtKB/Swiss-Prot ID

Q14574

UniProtKB/Swiss-Prot Entry Name

DSC3_HUMAN

PDB IDs

Not Available

GenBank Gene ID

GeneCard ID

GenAtlas ID

HGNC ID

References

General References

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 ]
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 ]
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 ]
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 ]
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 ]
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 ]