1. Gene
  2. PCSK9 - proprotein convertase subtilisin/kexin type 9 Gene

PCSK9 - proprotein convertase subtilisin/kexin type 9 Gene

Homo sapiens

Also known as FH3; PC9; FHCL3; NARC1; LDLCQ1; NARC-1; HCHOLA3

Gene ID: 255738 | Gene type: protein coding

About PCSK9

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:55,039,548-55,064,852 (from NCBI)

This gene has 6 transcripts (splice variants), 158 orthologues, 9 paralogues and is associated with 4 phenotypes. Biased expression in lung (RPKM 5.3), liver (RPKM 3.3) and 9 other tissues.

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]

PCSK9 Products(9)

mRNA Protein Name
NM_001407240.1 NP_001394169.1 proprotein convertase subtilisin/kexin type 9 isoform 2 preproprotein
NM_001407241.1 NP_001394170.1 proprotein convertase subtilisin/kexin type 9 isoform 3 preproprotein
NM_001407242.1 NP_001394171.1 proprotein convertase subtilisin/kexin type 9 isoform 4 preproprotein
NM_001407243.1 NP_001394172.1 proprotein convertase subtilisin/kexin type 9 isoform 5 preproprotein
NM_001407244.1 NP_001394173.1 proprotein convertase subtilisin/kexin type 9 isoform 6 preproprotein
NM_001407245.1 NP_001394174.1 proprotein convertase subtilisin/kexin type 9 isoform 7 preproprotein
NM_001407246.1 NP_001394175.1 proprotein convertase subtilisin/kexin type 9 isoform 8
NM_001407247.1 NP_001394176.1 proprotein convertase subtilisin/kexin type 9 isoform 9 preproprotein
NM_174936.4 NP_777596.2 proprotein convertase subtilisin/kexin type 9 isoform 1 preproprotein

PCSK9 Protein Structure

Inhibitor_I9

Inhibitor_I9: Peptidase inhibitor I9 (77 - 150)

Peptidase_S8

Peptidase_S8: Subtilase family (182 - 424)

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  • 692 a.a.
Protein Preferred Names Protein Names

proprotein convertase subtilisin/kexin type 9

convertase subtilisin/kexin type 9 preproprotein

Recombinant PCSK9 Proteins

Cat. No. Product Name Accession Purity
HY-P70545 PCSK9 Protein, Human (HEK293, V474I, G670E, His) Q8NBP7 (Q31-Q692, V474I, G670E) ≥95%
HY-P70546 PCSK9 Protein, Human (Biotinylated, V474I, G670E, HEK293, His-HA-Avi) Q8NBP7 (Q31-Q692, V474I, G670E) ≥95%
HY-P72405 PCSK9 Protein, Human (Biotinylated, V474I, G670E, HEK293, Avi) Q8NBP7 (Q31-Q692, V474I, G670E) ≥95%
HY-P73728 PCSK9 Protein, Human (HEK293, Fc) Q8NBP7/NP_777596.2 (Q31-Q692) ≥95%
HY-P78663 PCSK9 Protein, Human (D374Y, HEK293, His) Q8NBP7 (Q31-Q692, D374Y) ≥95%
HY-P78824 PCSK9 Protein, Human (Biotinylated, HEK293, D374Y, His-Avi) Q8NBP7-1 (Q31-Q692, D374Y) ≥95%
HY-P70545A PCSK9 Protein, Human (HEK293, C-His) Q8NBP7 (Q31-Q692) ≥95%

Related Diseases

Diseases Alias
Hypercholesterolemia, Familial, 3

Hypercholesterolemia, Autosomal Dominant, 3

FHCL3

Hchola3

Fh3

Low Density Lipoprotein Cholesterol Level Qtl 1

Hypercholesterolemia, Familial, Type 3

Hypercholesterolemia

Homozygous Familial Hypercholesterolemia

Hofh

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia

Familial Hyperbetalipoproteinaemia

Familial Hypercholesteremia

Fredrickson Type Iia Hyperlipoproteinemia

Fredrickson Type Iia Lipidaemia

Hyperbetalipoproteinemia

Type Ii Hyperlipidemia

Familial Hypercholesterolæmia

Familial Hypercholesterolaemia

Fh

Hypercholesterolemia Familial

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial

Hypercholesterolemia, Familial, 1

Hypercholesterolemia

FHCL1

Fhc

Fh

Hyperlipoproteinemia, Type Ii

Hyperlipoproteinemia, Type Iia

Hyper-Low-Density-Lipoproteinemia

Hypercholesterolemic Xanthomatosis, Familial

Ldl Receptor Disorder

Hypercholesterolemia, Susceptibility To

Hypercholesterolemia, Familial, Modifier Of

Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of

Ldl Cholesterol Level Qtl2

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial, Type 1

High Cholesterol

Increased Cholesterol

Low-Density-Lipoid-Type Hyperlipoproteinemia

Pure Hypercholesterolaemia

Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia

Group A Hyperlipidaemia

Pure Hypercholesterinaemia

Cholesterolaemia

Essential Cholesterolaemia

Essential Hypercholesterolaemia

Group A Hyperlipemia

Increased Low Density Lipoprotein

Low-Density-Lipoprotein-Type

Low-Density-Lipoprotein-Type Hyperlipoproteinemia

Hypercholesterolemia, Familial, 4

Hypercholesterolemia, Autosomal Recessive

Arh

FHCL4

Autosomal Recessive Hypercholesterolemia

Arh1

Arh2

Autosomal Recessive Hypercholesterolemia 1

Autosomal Recessive Hypercholesterolemia 2

Fhcb1

Fhcb2

Hypercholesterolemia, Autosomal Recessive, 1, Formerly

Arh1, Formerly

Fhcb1, Formerly

Hypercholesterolemia, Autosomal Recessive, 2, Formerly

Arh2, Formerly

Fhcb2, Formerly

Familial Autosomal Recessive Hypercholesterolemia

Hypercholesterolemia, Familial, Autosomal Recessive

Hypercholesterolemia, Familial, Type 4

Familial Hyperlipidemia

Familial Hyperlipoproteinemia

Hyperlipidaemia

Hyperlipoproteinemias

Hyperlipidemia

Hyperlipemia

Hyperlipidemias

Coronary Stenosis

Coronary Artery Stenosis

Hypobetalipoproteinemia, Familial, 1

Hypobetalipoproteinemia

Familial Hypobetalipoproteinemia 1

Familial Hypobetalipoproteinemia

FHBL1

Hypobetalipoproteinemia, Familial

Fhbl

Acanthocytosis With Hypobetalipoproteinemia

Hypobetalipoproteinemias

Hypobetalipoproteinemia, Normotriglyceridemic

Hypo-Beta-Lipoproteinemia

Hypobetalipoprotéinemia, Familial

Normotriglyceridemic Hypobetalipoproteinemia

Hypobetalipoproteinemia, Familial, Type 1

Arcus Corneae

Arcus Senilis

Corneal Arcus

Arcus Of Cornea

Corneal Degeneration

Degenerative Corneal Opacity

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis

Niemann-Pick Diseases

Lipoid Histiocytosis

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency Disease

Lipid Histiocytosis

Neuronal Cholesterol Lipidosis

Neuronal Lipidosis

Npd

Sphingomyelinase Deficiency

Niemann-Pick Disease, Type A

Hypobetalipoproteinemia, Familial, 2

Familial Hypobetalipoproteinemia 2

FHBL2

Hypolipidemia, Familial, Combined

Combined Familial Hypolipidemia

Combined Hypobetalipoproteinemia Familial

Hypobetalipoproteinemia, Familial, Type 2

Nasopharyngitis

Chronic Nasopharyngitis

Chronic Rhinopharyngitis

Sitosterolemia

Phytosterolemia

Beta-Sitosterolemia

Plant Sterol Storage Disease

Phytosterolæmia

Sitosterolæmia

Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body

Phytosterolaemia

Sitosterolaemia

Sitosterolemia With Xanthomatosis

Peripheral Artery Disease

Peripheral Arterial Disease

Peripheral Arterial Diseases

Hypolipoproteinemia

Hypolipoproteinaemia

Lipoprotein Deficiencies

Lipoprotein Disorder

Hypolipoproteinemias

Lipoprotein

Lipoprotein Deficiency

Hypolipidaemia

Lipoprotein Deficiency Disorder

High-Density Lipoid Deficiency

High-Density Lipoprotein Deficiency

Dyslipidaemia, Depressed Hdl Cholesterol

Atherosclerosis Susceptibility

Atherosclerosis

Atherosclerosis, Susceptibility To

ATHS

Atherogenic Lipoprotein Phenotype

Alp

Arteriosclerosis

Coronary Heart Disease 1

Coronary Heart Disease

Coronary Heart Disease, Susceptibility To, 1

Chds1

Coronary Heart Disease, Susceptibility To

CHD

Heart, Coronary, Disease, Susceptibility To, Type 1

Coronary Arteriosclerosis

Coronary Artery Disease

Intermediate Coronary Syndrome

Unstable Angina

Angina At Rest

Anginal Chest Pain At Rest

Impending Infarction

Preinfarction Angina

Worsening Angina

Angina, Unstable

Myocardial Preinfarction Syndrome

Angina Unstable

Crescendo Angina

Angina Decubitus

Acute Coronary Insufficiency

Unstable Angina Pectoris

Preinfarctional Angina Pectoris

Worsening Effort Angina

Preinfarction Syndrome

Unstable Angina Pectoris Syndrome

Unstable Anginal Attack

Unstable Cardiac Angina

Unstable Chest Angina

Unstable Heart Angina

De Novo Effort Angina Pectoris

Crescendo Angina Pectoris

Ua - [Unstable Angina]

Hyperlipoproteinemia, Type I

Lipoprotein Lipase Deficiency

Familial Chylomicronemia Syndrome

Lpl Deficiency

Hyperchylomicronemia, Familial

Hyperlipemia, Idiopathic, Burger-Grutz Type

Hyperlipemia, Essential Familial

Lipase D Deficiency

Lipd Deficiency

Hyperlipoproteinemia, Type Ia

Chylomicronemia, Familial

High Density Lipoprotein Cholesterol Level Qtl 11

Hyperlipoproteinemia Type 1

Hyperlipoproteinemia 1

HLPP1

Lipoprotein Lipase

Hyperlipoproteinemia Type I

Familial Hyperchylomicronemia Syndrome

Cardiovascular System Disease

Abnormality Of The Cardiovascular System

Cardiovascular Disease

Disease Of Subdivision Of Hemolymphoid System

Disorder Of Cardiovascular System

Cardiovascular Diseases

Tyrosinemia, Type I

Tyrosinemia Type I

Hepatorenal Tyrosinemia

Fumarylacetoacetase Deficiency

Fah Deficiency

TYRSN1

Fumarylacetoacetate Hydrolase Deficiency

Tyrosinemia Type 1

Tyrosinemia 1

Fumarylacetoacetase

Amyloidosis, Hereditary, Transthyretin-Related

Transthyretin Amyloidosis

Familial Amyloid Polyneuropathy

Ttr Amyloid Neuropathy

Transthyretin Amyloid Neuropathy

Transthyretin Amyloid Polyneuropathy

Fap

Familial Transthyretin Amyloidosis

Amyloidosis Transthyretin Related

Type I Familial Amyloid Polyneuropathy

Familial Amyloid Polyneuropathy Type I

Attrv122i Amyloidosis

Hereditary Amyloidosis, Transthyretin-Related

Amyloid Polyneuropathy, Familial

Attr Amyloidosis

Attrm Amyloidosis

Corino De Andrade'S Disease

Paramyloidosis

Transthyretin-Related Hereditary Amyloidosis

Ttr Amyloidosis

Hereditary Attr Amyloidosis

Portuguese Polyneuritic Amyloidosis

Portuguese Type Familial Amyloid Neuropathy

Swiss Type Amyloid Polyneuropathy

Type Ii Familial Amyloid Polyneuropathy

Attrv30m Amyloidosis

Attrv30m-Related Amyloidosis

Familial Amyloid Polyneuropathy, Portuguese-Swedish-Japanese Type

Attr Cardiomyopathy

Attrv122i-Related Amyloidosis

Ttr-Related Amyloid Cardiomyopathy

Ttr-Related Cardiac Amyloidosis

Transthyretin Amyloid Cardiopathy

Transthyretin-Related Familial Amyloid Cardiomyopathy

Amyloidosis, Transthyretin-Related

AMYL-TTR

Amyloidosis I

Amyloidosis Ohio Type

Amyloidosis Type 7

Amyloidosis Vii

Amyloid Polyneuropathy

Attr

Familial Amyloid Polyneuropathy Type Ii

Hereditary Amyloidosis Transthyretin-Related

Leptomeningeal Amyloidosis

Meningocerebrovascular Amyloidosis

Oculoleptomeningeal Amyloidosis

Familial Amyloid Polyneuropathies

Amyloidosis, Leptomeningeal

Senile Cardiac Amyloidosis

Amyloid Neuropathies, Familial

Danish Type Familial Amyloid Cardiomyopathy

Familial Amyloid Neuropathy, Portuguese Type

Amyloid Polyneuropathy, Swiss Type

Hereditary Oculoleptomeningeal Amyloid Angiopathy

Amyloid Neuropathies

Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Hypothyroidism

Thyroid Diseases

Thyroid Disease

Thyroid Deficiency

Thyroid Insufficiency

Dysfunction Thyroid

Thyroid Dysfunction

Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

Tyrosinemia

Hypertyrosinemia

Tyrosinemias

Hereditary Tyrosinemia

Hypertyrosinaemia

Tyrosinaemia

Hereditary Hypertyrosinemia

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Aortic Valve Disease 2

Aortic Valve Stenosis

Aortic Stenosis

Rheumatic Aortic Stenosis

AOVD2

Bicuspid Aortic Valve

Rheumatic Aortic Valve Stenosis

Valvular Aortic Stenosis

Aortic Valve Disease, Type 2

Aortic Valve Stricture

Aortic Valve Obstruction

Obstructed Aorta Valve

Rheumatic Aortic Obstruction

Rheumatic Aortic Valve Obstruction

Rheumatic Aortic Stricture

Aortic Valve Regurgitation

Aortic Insufficiency With Stenosis

Rheumatic Aortic Valve Stenosis With Insufficiency

Rheumatic Aortic Stenosis With Incompetence

Rheumatic Aortic Stenosis With Regurgitation

Hyperlipidemia, Familial Combined, 3

Familial Combined Hyperlipidemia

Combined Hyperlipidemia, Familial

Mixed Hyperlipidaemia

FCHL3

Hyperlipidemia, Familial Combined

Familial Multiple Lipoprotein-Type Hyperlipidemia

Hyperbetalipoproteinemia With Prebetalipoproteinemia

Type Iib Hyperlipoproteinemia

Hyperlipidemia Familial Combined

Hyperlipoproteinemia Type Iib

Mixed Hyperlipemia

Hyperlipidaemia, Group C

Familial Hypercholesterolaemia With Hyperlipaemia

Familial Hyperbetalipoproteinaemia And Hyperprebetalipoproteinaemia

Hyperbetalipoproteinaemia With Prebetalipoproteinaemia

Hypercholesterolaemia With Endogenous Hyperglyceridaemia

Prebetalipoproteinemia Hyperbetalipoproteinaemia

Remnant Hyperlipoproteinemia

Lipid Metabolism Disorder

Dyslipidemia

Disorder Of Fatty Acid Metabolism

Lipid Metabolism Disorders

Fatty Acid Metabolism Disorder

Disorder Of Lipid Metabolism

Abnormality Of Lipid Metabolism

Lipid Metabolism, Inborn Errors

Dyslipidemias

Disorders Of Lipid Metabolism

Congenital Disorders Of Lipid Metabolism

Inherited Disorders Of Lipid Metabolism

Carotid Artery Disease

Carotid Artery Diseases

Disorder Of Carotid Artery

Diabetes Mellitus

Diabetes

Chronic Ethmoiditis

Chronic Ethmoidal Sinusitis

Chronic Ethmoid Sinusitis

Ethmoidal Sinusitis - Chronic

Solid Adenocarcinoma With Mucin Production
Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PCSK9 RGD RGD:728909
Macaca mulatta PCSK9 VGNC VGNC:100028
Mus musculus PCSK9 MGD MGI:2140260
Macaca fascicularis PCSK9 NCBI NCBI:102142788
Others PCSK9 NCBI