PCDH1 (protocadherin 1)

2003-11-01  

Identity

HGNC
PCDH1
LOCATION
5q31.3
LOCUSID
5097
ALIAS
PC42,PCDH42
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5097
MIM: 603626
HGNC: 8655
Ensembl: ENSG00000156453

Variants:

dbSNP: 5097
ClinVar: 5097
TCGA: ENSG00000156453
COSMIC: PCDH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156453ENST00000287008Q08174
ENSG00000156453ENST00000394536Q08174
ENSG00000156453ENST00000503492D6RAX3
ENSG00000156453ENST00000505937H0Y9F5
ENSG00000156453ENST00000514773D6RBG2
ENSG00000156453ENST00000515351H0Y9I5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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

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 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
197296702009Identification of PCDH1 as a novel susceptibility gene for bronchial hyperresponsiveness.36
304642662018Protocadherin-1 is essential for cell entry by New World hantaviruses.13
262279652015Protocadherin-1 is a glucocorticoid-responsive critical regulator of airway epithelial barrier function.11
219829482012Characterization of protocadherin-1 expression in primary bronchial epithelial cells: association with epithelial cell differentiation.10
239887632014The PCDH1 gene and asthma in early childhood.9
262092772015Protocadherin-1 binds to SMAD3 and suppresses TGF-β1-induced gene transcription.8
277014442016Protocadherin-1 Localization and Cell-Adhesion Function in Airway Epithelial Cells in Asthma.7
219295972012Protocadherin-1 polymorphisms are associated with eczema in two Dutch birth cohorts.5
230506002012Genetic variants in Protocadherin-1, bronchial hyper-responsiveness, and asthma subphenotypes in German children.5

Citation

Dessen P

PCDH1 (protocadherin 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41663/pcdh1