DSC1 (desmocollin 1)

2007-02-01  

Identity

HGNC
DSC1
LOCATION
18q12.1
LOCUSID
1823
ALIAS
CDHF1,DG2/DG3

Other Information

Locus ID:

NCBI: 1823
MIM: 125643
HGNC: 3035
Ensembl: ENSG00000134765

Variants:

dbSNP: 1823
ClinVar: 1823
TCGA: ENSG00000134765
COSMIC: DSC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134765ENST00000257197Q08554
ENSG00000134765ENST00000257197Q9HB00
ENSG00000134765ENST00000257198Q08554

Expression (GTEx)

0
50
100
150
200
250
300
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Developmental BiologyREACTOMER-HSA-1266738
Neutrophil degranulationREACTOMER-HSA-6798695
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
hair
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
166281982006Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome.37
170889062006Desmocollin switching in colorectal cancer.24
224380682012Loss of desmocollin 1-3 and homeobox genes PITX1 and CDX2 are associated with tumor progression and survival in colorectal carcinoma.23
280052672017Human gingiva transcriptome during wound healing.6
276011662016Lower DSC1 expression is related to the poor differentiation and prognosis of head and neck squamous cell carcinoma (HNSCC).5
151400192004Desmocollin 1 expression and desmosomal remodeling during terminal differentiation of human anagen hair follicle: an electron microscopic study.2
239750552014The influence of desmocollin 1-3 expression on prognosis after curative resection of colorectal liver metastases.0
316176652019Proteomics Identification and Validation of Desmocollin-1 and Catechol-O-Methyltransferase as Proteins Associated with Breast Cancer Cell Migration and Metastasis.0

Citation

Dessen P

DSC1 (desmocollin 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46406/dsc1