PCSK5 - proprotein convertase subtilisin/kexin type 5 Gene

Homo sapiens

Also known as PC5; PC6; PC6A; SPC6

Gene ID: 5125 | Gene type: protein coding

About PCSK5

Cytogenetic location: 9q21.13 Genomic coordinates (GRCh38): 9:75,889,809-76,362,975 (from NCBI)

This gene has 7 transcripts (splice variants), 271 orthologues and 9 paralogues. Broad expression in small intestine (RPKM 6.4), duodenum (RPKM 5.8) and 20 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. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several Integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a Protease packaged into dense core granules (PC5A) and a type 1 membrane bound Protease (PC5B). [provided by RefSeq, May 2014]

PCSK5 Products(3)

mRNA	Protein	Name
NM_001190482.2	NP_001177411.1	proprotein convertase subtilisin/kexin type 5 isoform PC6B preproprotein
NM_001372043.1	NP_001358972.1	proprotein convertase subtilisin/kexin type 5 isoform 3 precursor
NM_006200.6	NP_006191.2	proprotein convertase subtilisin/kexin type 5 isoform PC6A preproprotein

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables endopeptidase activity	EXP EXP: Inferred from Experiment	16109723	GOA
enables peptidase activity	IDA IDA: Inferred from direct assay	15606899	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables serine-type endopeptidase activity	IDA IDA: Inferred from direct assay	8901832	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in anterior/posterior pattern specification	IMP IMP: Inferred from mutant phenotype	18519639	GOA
involved in embryonic digestive tract development	IMP IMP: Inferred from mutant phenotype	18519639	GOA
involved in embryonic skeletal system development	IMP IMP: Inferred from mutant phenotype	18519639	GOA
involved in kidney development	IMP IMP: Inferred from mutant phenotype	18519639	GOA
involved in peptide biosynthetic process	IDA IDA: Inferred from direct assay	8901832	GOA
involved in peptide hormone processing	IDA IDA: Inferred from direct assay	8901832	GOA
acts upstream of or within protein processing	IDA IDA: Inferred from direct assay	15606899	GOA
involved in protein processing	IDA IDA: Inferred from direct assay	8901832	GOA
involved in renin secretion into blood stream	IEP IEP: Inferred from expression pattern	8901832	GOA
involved in signal peptide processing	IDA IDA: Inferred from direct assay	16912035	GOA
involved in viral life cycle	IEP IEP: Inferred from expression pattern	8940009	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PCSK5 Protein Structure

Peptidase_S8

P_proprotein

GF_recep_IV

0
300
600
900
1200
1500
1860 a.a.

Protein Preferred Names

Protein Names

proprotein convertase subtilisin/kexin type 5

prohormone convertase 5

Related Diseases

Diseases

Alias

Motion Sickness

Airsickness	Carsickness
Seasickness	Travel Sickness
Riders' Vertigo

Currarino Syndrome

Currarino Triad	Partial Sacral Agenesis With Intact First Sacral Vertebra, Presacral Mass And Anorectal Malformation
CURRAS

Cataract 38

CTRCT38	Catc5
Autosomal Recessive Congenital Cataract 5	Cataract, Autosomal Recessive Congenital 5
Cataract 38, Autosomal Recessive	Cataract, Type 38

Epilepsy, Idiopathic Generalized 2

EIG2	Epilepsy, Idiopathic Generalized, Susceptibility To, 2
Idiopathic Generalized Epilepsy 2	Epilepsy, Idiopathic Generalized Locus On Chromosome 14
Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 14

Sacral Defect With Anterior Meningocele

Caudal Regression Syndrome	Caudal Regression Sequence
Sacral Agenesis	Caudal Dysgenesis Syndrome
SDAM	Caudal Dysplasia Sequence
Caudal Dysplasia	Sacral Agenesis Syndrome
Sacral Regression Syndrome	Sacral Defect And Anterior Sacral Meningocele
Rudd Klimek Syndrome	Sirenomelia

Vacterl Association

Vater Association

Vater Syndrome

Somatization Disorder

Somatoform Disorders	Briquet'S Disorder
Polysomatising Disorder	Somatisation Disorder
Somatoform Disorder

Neurotic Disorder

Neurosis	Reactive Depression
Adjustment Disorders	Neurotic Disorders
Depressive Neurosis	Neurotic Depression
Neurotic Depression Reactive Type	Neurotic Depressive State
Psychoneurosis	Depressive Disorder
Depression, Neurotic

Pachyonychia Congenita 1

Pachyonychia Congenita	Jadassohn-Lewandowsky Syndrome
Pachyonychia Congenita Syndrome	PC1
Pachyonychia Congenita, Jadassohn-Lewandowsky Type	Congenital Pachyonychia
Pachyonychia Congenita, Type 1	Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly
Jadassohn-Lewandowsky Syndrome, Formerly	Jackson-Lawler Type Pachyonychia Congenita
Pachyonychia Congenita Type 1	Jackson-Lawler Syndrome
Jadassohn-Lewandowski Syndrome	Pc
Pachyonychia Congenita Jackson-Lawler Type	Pachyonychia Congenita Jadassohn-Lewandowsky Type
Pachyonychia Congenita Jackson Lawler Type	Pc-1
Pachyonychia Congenita, Jadassohn Lewandowsky Type	Pachyonychia Congenita, Type 2

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10174	PCSK5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PCSK5	VGNC	VGNC:102961
Canis familiaris	PCSK5	VGNC	VGNC:44324
Rattus norvegicus	PCSK5	RGD	RGD:620326
Macaca mulatta	PCSK5	VGNC	VGNC:75787
Bos taurus	PCSK5	VGNC	VGNC:56979
Mus musculus	PCSK5	MGD	MGI:97515

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