PCSK1

GENERAL INFORMATION

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Gene name

PCSK1

Gene description

Proprotein convertase subtilisin/kexin type 1

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (cerebral cortex)
GTEx:Tissue enhanced (cerebral cortex)

Protein evidence

Evidence at protein level

Protein localization

Normal tissues displayed moderate to strong cytoplasmic staining. Squamous epithelia of cervix, bile duct cells, pneumocytes, trophoblastic cells, most of the soft tissues, skeletal and smooth muscle cells were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA048564
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (cerebral cortex)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cerebral cortex)

Organ

Expression



GENE INFORMATION

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Gene name

PCSK1 (HGNC Symbol)

Synonyms

NEC1, PC1, PC3, SPC3

Description

Proprotein convertase subtilisin/kexin type 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to subcellular compartments where a second autocatalytic even takes place and the catalytic activity is acquired. The protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Mutations in this gene have been associated with susceptibility to obesity and proprotein convertase 1/3 deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene [provided by RefSeq, Jan 2014]

Chromosome

5

Cytoband

q15

Chromosome location (bp)

96390415 - 96434143

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000175426 (version 78.38)

Entrez gene

5122

UniProt

P29120 (UniProt - Evidence at protein level)

neXtProt

NX_P29120

Antibodypedia

PCSK1 antibodies


PROTEIN BROWSER

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ENST00000311106
 
ENST00000508626
 
ENST00000509190
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PCSK1-001 ENSP00000308024
ENST00000311106
P29120
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Show » Show » 753 84.2 Yes 0
PCSK1-002 ENSP00000421600
ENST00000508626
P29120
Show all »
Show » Show » 706 79 No 0
PCSK1-005 ENSP00000427294
ENST00000509190
D6RJA3
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Show » Show » 158 18.3 Yes 0