PCSK9

GENERAL INFORMATION

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Gene name

PCSK9

Gene description

Proprotein convertase subtilisin/kexin type 9

Protein class

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

Predicted localization

Secreted

Number of transcripts

1
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (liver, lung)
GTEx:Tissue enhanced (cerebellum, liver)

Protein evidence

Evidence at protein level

Protein localization

Cells of epididymis and subsets of lymphoid cells exhibited strong cytoplasmic staining. Remaining normal tissues were in general negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
CAB025575
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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

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 (liver, lung)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cerebellum, liver)

Organ

Expression



GENE INFORMATION

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Gene name

PCSK9 (HGNC Symbol)

Synonyms

FH3, HCHOLA3, NARC-1

Description

Proprotein convertase subtilisin/kexin type 9 (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 autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Chromosome

1

Cytoband

p32.3

Chromosome location (bp)

55039548 - 55064852

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000169174 (version 78.38)

Entrez gene

255738

UniProt

Q8NBP7 (UniProt - Evidence at protein level)

neXtProt

NX_Q8NBP7

Antibodypedia

PCSK9 antibodies


PROTEIN BROWSER

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ENST00000302118
 
 
 
 


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)

PCSK9-001 ENSP00000303208
ENST00000302118
Q8NBP7
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Show » Show » 692 74.3 Yes 0