PCSK7 (proprotein convertase subtilisin/kexin type 7)

2003-02-01  

Identity

HGNC
PCSK7
LOCATION
11q23.3
LOCUSID
9159
ALIAS
LPC,PC7,PC8,SPC7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9159
MIM: 604872
HGNC: 8748
Ensembl: ENSG00000160613

Variants:

dbSNP: 9159
ClinVar: 9159
TCGA: ENSG00000160613
COSMIC: PCSK7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160613ENST00000320934Q16549
ENSG00000160613ENST00000524507E9PIW7
ENSG00000160613ENST00000525027E9PMC0
ENSG00000160613ENST00000530269E9PLM0
ENSG00000160613ENST00000532301A0A1B0GX40
ENSG00000160613ENST00000540028Q6PK65

Expression (GTEx)

0
10
20
30
40
50
60
70
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

References

Pubmed IDYearTitleCitations
172421582007Proprotein convertases promote processing of VEGF-D, a critical step for binding the angiogenic receptor VEGFR-2.39
117231182002Inhibitory potency and specificity of subtilase-like pro-protein convertase (SPC) prodomains.33
201644182010Post-endoplasmic reticulum rescue of unstable MHC class I requires proprotein convertase PC7.23
211492832011Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.22
210758462011The proprotein convertase PC7: unique zymogen activation and trafficking pathways.21
233900912013Implication of the proprotein convertases in iron homeostasis: proprotein convertase 7 sheds human transferrin receptor 1 and furin activates hepcidin.18
267638812016Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglyceride.13
212090992011Proprotein convertase PC7 enhances the activation of the EGF receptor pathway through processing of the EGF precursor.12
245562162014Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.12
222947002012Internalization of proprotein convertase PC7 from plasma membrane is mediated by a novel motif.8

Citation

Dessen P

PCSK7 (proprotein convertase subtilisin/kexin type 7)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41672/pcsk7