PCSK1 - proprotein convertase subtilisin/kexin type 1 Gene

Also Known as PC1; PC3; NEC1; SPC3; PC1/3; BMIQ12

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5122

About PCSK1

Cytogenetic location: 5q15 Genomic coordinates (GRCh38): 5:96,390,333-96,433,248 (from NCBI)

This gene has 4 transcripts (splice variants), 205 orthologues, 9 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 13.3), adrenal (RPKM 3.9) and 6 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 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]

PCSK1 Products (2)

mRNA Protein Name
NM_000439.5 NP_000430.3 neuroendocrine convertase 1 isoform 1 preproprotein
NM_001177875.2 NP_001171346.1 neuroendocrine convertase 1 isoform 2

PCSK1 Protein Structure

Peptidase_S8

Peptidase_S8: Subtilase family (162 - 451)

P_proprotein

P_proprotein: Proprotein convertase P-domain (504 - 591)

Proho_convert

Proho_convert: Prohormone convertase enzyme (712 - 752)

  • 0
  • 200
  • 400
  • 600
  • 753 a.a.
Protein Preferred Names Protein Names

neuroendocrine convertase 1

  • prohormone convertase 1

Recombinant PCSK1 Proteins

Cat. No. Product Name Accession Purity
HY-P77462 PCSK1 Protein, Human (HEK293, His) P29120-1/NP_000430.3 (S111-R617) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Proprotein Convertase 1/3 Deficiency

  • Obesity Due To Prohormone Convertase I Deficiency

  • Obesity With Impaired Prohormone Processing

  • Obesity And Endocrinopathy Due To Impaired Processing Of Prohormones

  • Pci Deficiency

  • Proprotein Convertase 1 3 Deficiency

  • Endocrinopathy Due To Proprotein Convertase 1/3 Deficiency

  • Proprotein Convertase 1 Deficiency

  • PC1 DEFICIENCY
Body Mass Index Quantitative Trait Locus 12

  • Obesity

  • Obesity, Susceptibility To, Bmiq12

  • BMIQ12

  • Obesity, Susceptibility To

  • Obesity Bmiq12
Body Mass Index Quantitative Trait Locus 11

  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis
Hypogonadism
Leptin Deficiency Or Dysfunction

  • Morbid Obesity

  • Obesity Due To Congenital Leptin Deficiency

  • LEPD

  • Congenital Leptin Deficiency

  • Obesity, Morbid

  • Obesity, Morbid, Due To Leptin Deficiency

  • Severe Obesity

  • Obesity, Morbid, Nonsyndromic 1

  • Leptin Deficiency

  • Obesity, Severe, Due To Leptin Deficiency

  • Leptin

  • Morbid Obesity Due To Leptin Deficiency

  • Obesity Morbid

  • Leptin Dysfunction
Diarrhea 4, Malabsorptive, Congenital

  • Enteric Anendocrinosis

  • Congenital Malabsorptive Diarrhea 4

  • DIAR4

  • Congenital Malabsorptive Diarrhea Due To Paucity Of Enteroendocrine Cells

  • Congenital Malabsorptive Diarrhoea 4

  • Congenital Malabsorptive Diarrhoea Due To Paucity Of Enteroendocrine Cells

  • Diarrhea, Type 4, Malabsorptive, Congenital
Islet Cell Tumor

  • Pancreatic Neuroendocrine Tumor

  • Neuroendocrine Tumor Of Pancreas

  • Pnet

  • Pancreatic Net

  • Pancreatic Endocrine Tumor

  • Well-Differentiated Nen Of Pancreas

  • Well-Differentiated Neuroendocrine Neoplasm Of Pancreas

  • Well-Differentiated Pancreatic Nen

  • Well-Differentiated Pancreatic Neuroendocrine Neoplasm

  • Endocrine Pancreas Cancer

  • Islet Cell Neoplasm

  • Islet Cell Tumour

  • Malignant Pancreatic Endocrine Tumor

  • Malignant Pancreatic Endocrine Tumour

  • Malignant Tumor Of Endocrine Pancreas

  • Malignant Tumour Of Endocrine Pancreas

  • Pancreatic Endocrine Neoplasm

  • Pancreatic Neuroendocrine Neoplasm

  • Adenoma, Islet Cell

  • Well Differentiated Pancreatic Endocrine Tumor

  • Malignant Neoplasm Of Endocrine Pancreas

  • Pancreatic Endocrine Carcinoma
Kallmann Syndrome

  • Hypogonadism With Anosmia

  • Kallman'S Syndrome

  • Anosmic Hypogonadism

  • Anosmic Idiopathic Hypogonadotropic Hypogonadism

  • Hypogonadotropic Hypogonadism And Anosmia

  • Hypogonadotropic Hypogonadism-Anosmia Syndrome

  • Olfacto-Genital Pathological Sequence

  • Familial Hypogonadism With Anosmia

  • Kallman Syndrome

  • Dysplasia Olfactogenitalis Of De Morsier

  • Kallmann'S Syndrome

  • Congenital Hypogonadotropic Hypogonadism With Anosmia
Prader-Willi Syndrome

  • Prader-Labhart-Willi Syndrome

  • PWS

  • Willi-Prader Syndrome

  • Prader-Willi Syndrome Due To Translocation

  • Prader-Willi Syndrome Due To Imprinting Mutation

  • Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

  • Prader Willi Syndrome

  • Upd(15)Mat
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease

  • Polycystic Kidney Disease 1

  • PKD1

  • Adpkd

  • Polycystic Kidney Disease, Adult, Type I

  • Apkd1

  • Potter Type Iii Polycystic Kidney Disease

  • Polycystic Kidney Disease, Adult

  • Potter Type Iii Polycystic Kidney Disease, Formerly

  • Polycystic Kidney Disease, Type 1

  • Adpkd1

  • Adult Polycystic Kidney Disease Type 1

  • Autosomal Dominant Polycystic Kidney Disease 1

  • Pkd-1

  • Polycystic Kidney Disease Adult

  • Polycystic Kidney Disease Type I

  • Polycystic Kidneys

  • Polycystic Kidney Disease, Adult Type I

  • Polycystic Kidney Type 1 Autosomal Dominant Disease

  • Kidney Disease, Polycystic, Type 1

  • Polycystic Kidney, Autosomal Dominant

  • Polycystic Kidney, Type 1 Autosomal Dominant Disease

  • Polycystic Kidney Diseases
Caspase 8 Deficiency

  • Autoimmune Lymphoproliferative Syndrome Type 2b

  • Caspase-8 Deficiency

  • Ceds

  • Alps2b

  • Autoimmune Lymphoproliferative Syndrome, Type Iib

  • Alps With Recurrent Viral Infections

  • Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections

  • Caspase 8 Deficiency Syndrome

  • Caspase 8 Lymphadenopathy Syndrome

  • Autoimmune Lymphoproliferative Syndrome Type Iib

  • Caspase Eight Deficiency State

  • CASP8D
Type 1 Diabetes Mellitus 12

  • Diabetes Mellitus, Insulin-Dependent, 12

  • IDDM12

  • Insulin-Dependent Diabetes Mellitus 12

  • T1D12

  • Type 1 Diabetes Mellitus 12, Susceptibility To

  • Diabetes Mellitus, Insulin-Dependent, Type 12
Spinocerebellar Ataxia 44

  • SCA44
Huntington Disease

  • Huntington'S Disease

  • Huntington Chorea

  • Huntington'S Chorea

  • HD

  • Huntington Chronic Progressive Hereditary Chorea

  • Juvenile Huntington Disease

  • Chronic Progressive Chorea

  • Chronic Progressive Hereditary Chorea

  • Hc - [Huntington Chorea]

  • Hereditary Chorea

  • Progressive Hereditary Chorea
Angelman Syndrome

  • AS

  • Happy Puppet Syndrome

  • Happy Puppet Syndrome, Formerly

  • Puppetlike Syndrome
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

  • Wagr Syndrome

  • 11p Partial Monosomy Syndrome

  • Chromosome 11p13 Deletion Syndrome

  • Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome

  • 11p Deletion Syndrome

  • Chromosome 11p Deletion Syndrome

  • Wagr Complex

  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome

  • Deletion 11p13

  • WAGR

  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome

  • Chromosome 11p Deletion

  • 11p Deletion

  • 11p Monosomy

  • Deletion 11p

  • Monosomy 11p

  • Partial Monosomy 11p

  • Agr Triad

  • Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome

  • Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome

  • Wagr Contiguous Gene Syndrome

  • Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome

  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome

  • Del(11)(P13)

  • Monosomy 11p13

  • Chromosome 11, Deletion 11p
Diabetes Mellitus

  • Diabetes
Maturity-Onset Diabetes Of The Young

  • MODY

  • Maturity Onset Diabetes Mellitus In Young

  • Mason-Type Diabetes

  • Mason Type Diabetes

  • Maturity Onset Diabetes Of The Young

  • Mody Syndrome

  • Diabetes Of The Young, Maturity-Onset
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
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10170 PCSK1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS10171 PCSK1N Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18538 Pcsk1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25020 Pcsk1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus PCSK1 VGNC VGNC:32646
Mus musculus PCSK1 MGD MGI:97511
Rattus norvegicus PCSK1 RGD RGD:3272
Macaca mulatta PCSK1 VGNC VGNC:75784
Canis familiaris PCSK1 VGNC VGNC:44320
Felis catus PCSK1 VGNC VGNC:68732
Others PCSK1 NCBI