Protein DSC1

URN urn:agi-llid:1823
Total Entities 0
Connectivity 161
Name DSC1
Description desmocollin 1
Notes The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. A subtype of IgA pemphigus, a life-threatening autoimmune disease, is characterized by the presence of autoantibodies that target the encoded protein. The desmosomal family members are arranged in two clusters on chromosome 18. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protein. [provided by RefSeq, Nov 2015]
Primary Cell Localization Plasma membrane

Pathway Desmosome Assembly
Desmosome Dysfunction in Cardiomyocyte
Desmosomes Role in Dilated Cardiomyopathy
Corneodesmosomes in Atopic Dermatitis
Proteins with Altered Expression in Atopic Dermatitis
Atopic Dermatitis
IL22 Induces Keratinocyte Proliferation in Psoriasis
2_Interleukin-17 and interleukin-22 signaling in psoriasis
2_Harlequin ichthyosis overview
2_Desmosome dysfunction in cardiomyocytes in ARVD
Interleukin-17 and interleukin-22 signaling in psoriasis

MedScan ID 1823

LocusLink ID 1823
13505
291759

Alias CDHF1
desmocollin 1
Desmocollin 1A/1B
AI507491
DSC1
Dsc1b
desmocollin I
isoform Dsc1b preproproteins
RIKEN cDNA 1110020A10 gene
Dsc1a
isoform Dsc1a preproproteins
Desmosomal glycoprotein 2/3
1110020A10
DSC I
MGC129348
1110020A10Rik
CDHF I
DG2/DG3
cadherin family member 1
desmocollin-1

GO ID 0005509
0098609
0070268
0007156
0031424
0043312
0005911
0001533
0030057
0070062
0101003
0005921
0016021
0016020
0005886
0007155
0030054

KEGG ID hsa:1823
mmu:13505

Organism Homo sapiens {Organism urn:agi-taxid:9606}
Mus musculus {Organism urn:agi-taxid:10090}
Rattus norvegicus {Organism urn:agi-taxid:10116}
Homo sapiens
Mus musculus
Rattus norvegicus

Mouse chromosome position 18

OMIM ID 125643

Rat chromosome position 18p12

Hugo ID 3035

Human chromosome position 18q12.1

Swiss-Prot Accession Q08554
Q9HB00
Q08554.2
P55849
Q2VPA9
Q32ME9
P55849.2
Q9HB01
E9QJX2

PIR ID A48910
I37281
I37282

GenBank ID NC_000018
NM_024421
NP_077739
NM_004948
NP_004939
NG_029192
AC012417
AF293358
AAG23424
AAG23425
CH471088
EAX01252
EAX01253
Y11051
CU444724
CU447407
X72925
CAA51428
CAA51429
Z34522
CAA84278
CAA84279
Q08554
NC_000084
NM_001291804
NP_001278733
NM_013504
NP_038532
AC132314
AF069759
AAD04343
CH466557
EDK96941
EDK96942
AI507491
AK003840
AK036893
AK079441
AK081826
BAC38343
BC109161
AAI09162
BC109162
AAI09163
X97986
CAA66628
CAA66629
P55849
NC_005117
XM_008771992
XP_008770214
AC_000086
XM_017587802
XP_017443291
AABR07031382
AABR07031383
AAHX01093939
AAHX01093940
AAHX01093941
CH473974
EDL76086
DN948066
NC_018929
AMYH02034503
AMYH02034504
BC148349
AAI48350
AC_000040
AAHY01136938
AAHY01136939
XM_008774118
XP_008772340

Swiss-Prot ID DSC1_HUMAN
DSC1_MOUSE

Cell Localization Cell membrane
Cell junction
Desmosome
Cell junction, desmosome

Ensembl ID ENSG00000134765
ENSP00000257197.3
ENST00000257197.7
ENSP00000257198.5
ENST00000257198.5
ENSMUSG00000044322
ENSMUSP00000153639.1
ENSMUST00000224432.1
ENSMUSP00000042303.5
ENSMUST00000038710.5
ENSRNOG00000056258
ENSRNOP00000075307.1
ENSRNOT00000078207.1
ENSP00000257197
ENST00000257197
ENSP00000257198
ENST00000257198
ENSMUSP00000042303
ENSMUST00000038710
ENSRNOP00000075307
ENSRNOT00000078207

MGI ID MGI:109173

RGD ID 1310768

Unigene ID Hs.567260
Mm.33740
Mm.482847

Homologene ID 22761