PCSK1 - proprotein convertase subtilisin/kexin type 1 Gene

Homo sapiens

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

Gene ID: 5122 | Gene type: protein coding

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

P_proprotein

Proho_convert

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 (M1-R617)	≥95%

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10170	PCSK1 Human Pre-designed siRNA Set A		/	Unkown
HY-RS10171	PCSK1N Human Pre-designed siRNA Set A		/	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

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