PCSK1N (proprotein convertase subtilisin/kexin type 1 inhibitor)

2014-11-01  

Identity

HGNC
PCSK1N
LOCATION
Xp11.23
LOCUSID
27344
ALIAS
BigLEN,PEN,PROSAAS,SAAS,SCG8,SgVIII

Other Information

Locus ID:

NCBI: 27344
MIM: 300399
HGNC: 17301
Ensembl: ENSG00000102109

Variants:

dbSNP: 27344
ClinVar: 27344
TCGA: ENSG00000102109
COSMIC: PCSK1N

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102109ENST00000218230Q9UHG2

Expression (GTEx)

0
500
1000
1500
2000
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
pituitary gland
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
117195032002Functional characterization of ProSAAS: similarities and differences with 7B2.12
189483942009Identification of proSAAS homologs in lower vertebrates: conservation of hydrophobic helices and convertase-inhibiting sequences.10
274579572016The neural chaperone proSAAS blocks α-synuclein fibrillation and neurotoxicity.10
147468992004A human granin-like neuroendocrine peptide precursor (proSAAS) immunoreactivity in tau inclusions of Alzheimer's disease and parkinsonism-dementia complex on Guam.7
226951732013Frequencies of obesity susceptibility alleles among ethnically and racially diverse bariatric patient populations.3

Citation

Dessen P

PCSK1N (proprotein convertase subtilisin/kexin type 1 inhibitor)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71775/pcsk1n