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Aliases for PCSK1 Gene

Aliases for PCSK1 Gene

  • Proprotein Convertase Subtilisin/Kexin Type 1 2 3 5
  • Prohormone Convertase 1 2 3 4
  • Neuroendocrine Convertase 1 2 3
  • Prohormone Convertase 3 2 3
  • Proprotein Convertase 1 2 4
  • NEC1 3 4
  • PC1 3 4
  • EC 4
  • BMIQ12 3
  • NEC 1 4
  • SPC3 3
  • PC3 3

External Ids for PCSK1 Gene

Previous HGNC Symbols for PCSK1 Gene

  • NEC1

Previous GeneCards Identifiers for PCSK1 Gene

  • GC05M094956
  • GC05M096190
  • GC05M095754
  • GC05M095800
  • GC05M095751
  • GC05M090916

Summaries for PCSK1 Gene

Entrez Gene Summary for PCSK1 Gene

  • 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]

GeneCards Summary for PCSK1 Gene

PCSK1 (Proprotein Convertase Subtilisin/Kexin Type 1) is a Protein Coding gene. Diseases associated with PCSK1 include Proprotein Convertase 1/3 Deficiency and Body Mass Index Quantitative Trait Locus 12. Among its related pathways are Incretin synthesis, secretion, and inactivation and Peptide hormone metabolism. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and endopeptidase activity. An important paralog of this gene is FURIN.

UniProtKB/Swiss-Prot for PCSK1 Gene

  • Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Substrates include POMC, renin, enkephalin, dynorphin, somatostatin, insulin and AGRP.

Gene Wiki entry for PCSK1 Gene

Additional gene information for PCSK1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCSK1 Gene

Genomics for PCSK1 Gene

GeneHancer (GH) Regulatory Elements for PCSK1 Gene

Promoters and enhancers for PCSK1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J096433 Promoter 0.7 EPDnew 650.7 +0.9 875 0.1 POLR2A ZBTB21 ZNF629 PCSK1 GC05P096433 ENSG00000250158 LOC101929710
GH05J096412 Promoter 0.5 EPDnew 661.9 +21.1 21141 0.1 PCSK1 LOC101929710 GC05P096433 ENSG00000250158
GH05J096536 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.8 -103.8 -103839 2.9 NFIB JUN RFX5 FOSL1 POLR2A NFE2 FOSL2 FOS MAFK ELK4 LOC101929710 PCSK1 CAST LNPEP ENSG00000249180
GH05J095957 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.8 +473.3 473304 7.5 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 ELL2 LOC101929710 CAST PCSK1 LOC105379091
GH05J096572 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.5 -138.9 -138851 1.8 INSM2 FEZF1 RAD21 ZNF335 ZNF366 SCRT2 FOS ZNF362 CEBPB ZNF398 CAST PCSK1 LIX1-AS1 ENSG00000249180 LOC101929710
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCSK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCSK1 gene promoter:
  • NRSF form 1
  • NRSF form 2
  • PPAR-gamma2
  • PPAR-gamma1
  • STAT3
  • FOXO4

Genomic Locations for PCSK1 Gene

Genomic Locations for PCSK1 Gene
43,808 bases
Minus strand
43,808 bases
Minus strand

Genomic View for PCSK1 Gene

Genes around PCSK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCSK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCSK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCSK1 Gene

Proteins for PCSK1 Gene

  • Protein details for PCSK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Neuroendocrine convertase 1
    Protein Accession:
    Secondary Accessions:
    • B7Z8T7
    • E9PHA1
    • P78478
    • Q92532

    Protein attributes for PCSK1 Gene

    753 amino acids
    Molecular mass:
    84152 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCSK1 Gene


neXtProt entry for PCSK1 Gene

Post-translational modifications for PCSK1 Gene

  • O-glycosylated.
  • Glycosylation at isoforms=2643, Thr632, Asn401, and Asn173
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • NEC1_HUMAN (673)

Other Protein References for PCSK1 Gene

Antibody Products

  • Abcam antibodies for PCSK1
  • Boster Bio Antibodies for PCSK1
  • Santa Cruz Biotechnology (SCBT) Antibodies for PCSK1

No data available for DME Specific Peptides for PCSK1 Gene

Domains & Families for PCSK1 Gene

Gene Families for PCSK1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for PCSK1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase S8 family. Furin subfamily.
  • Belongs to the peptidase S8 family. Furin subfamily.
genes like me logo Genes that share domains with PCSK1: view

Function for PCSK1 Gene

Molecular function for PCSK1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Substrates include POMC, renin, enkephalin, dynorphin, somatostatin, insulin and AGRP.
UniProtKB/Swiss-Prot CatalyticActivity:
Release of protein hormones, neuropeptides and renin from their precursors, generally by hydrolysis of -Lys-Arg- - bonds.
GENATLAS Biochemistry:
proprotein convertase subtilisin kexin-like 1,primarily expressed in tissues and cells containing secretory granules,localized in the Golgi apparatus and possibly in endosomes,specifically cleaving BDNF,susceptibility gene for non insulin dependent diabetes (type II) and coronary artery disease

Enzyme Numbers (IUBMB) for PCSK1 Gene

Phenotypes From GWAS Catalog for PCSK1 Gene

Gene Ontology (GO) - Molecular Function for PCSK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity ISS,TAS --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with PCSK1: view
genes like me logo Genes that share phenotypes with PCSK1: view

Human Phenotype Ontology for PCSK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PCSK1 Gene

MGI Knock Outs for PCSK1:

Animal Model Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for PCSK1 Gene

Localization for PCSK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCSK1 Gene

Cytoplasmic vesicle, secretory vesicle. Note=Localized in the secretion granules.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCSK1 gene
Compartment Confidence
extracellular 5
mitochondrion 3
golgi apparatus 3
nucleus 2
cytosol 2
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PCSK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 8397508
GO:0030133 transport vesicle IEA --
GO:0031410 cytoplasmic vesicle IEA --
GO:0034774 secretory granule lumen TAS --
genes like me logo Genes that share ontologies with PCSK1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PCSK1 Gene

Pathways & Interactions for PCSK1 Gene

genes like me logo Genes that share pathways with PCSK1: view

Gene Ontology (GO) - Biological Process for PCSK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis TAS 9207799
GO:0007267 cell-cell signaling TAS 9207799
GO:0016485 protein processing IEA --
GO:0016486 peptide hormone processing TAS --
GO:0043043 peptide biosynthetic process ISS --
genes like me logo Genes that share ontologies with PCSK1: view

No data available for SIGNOR curated interactions for PCSK1 Gene

Drugs & Compounds for PCSK1 Gene

(16) Drugs for PCSK1 Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Insulin Human Approved, Investigational Pharma Target 0
Insulin Pork Approved Pharma Target 0
Adrenocorticotropic Hormone Pharma 174
beta-endorphin Pharma Full agonist, Agonist, Partial agonist 147

(14) Additional Compounds for PCSK1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PCSK1: view

Transcripts for PCSK1 Gene

mRNA/cDNA for PCSK1 Gene

Unigene Clusters for PCSK1 Gene

Proprotein convertase subtilisin/kexin type 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCSK1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16
SP1: -
SP2: -
SP3: -

Relevant External Links for PCSK1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PCSK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCSK1 Gene

mRNA differential expression in normal tissues according to GTEx for PCSK1 Gene

This gene is overexpressed in Brain - Hypothalamus (x14.5), Brain - Frontal Cortex (BA9) (x7.0), Brain - Anterior cingulate cortex (BA24) (x5.8), and Brain - Cortex (x4.6).

Protein differential expression in normal tissues from HIPED for PCSK1 Gene

This gene is overexpressed in Islet of Langerhans (35.4), Peripheral blood mononuclear cells (12.0), and Cerebrospinal fluid (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PCSK1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCSK1 Gene:


SOURCE GeneReport for Unigene cluster for PCSK1 Gene:


Evidence on tissue expression from TISSUES for PCSK1 Gene

  • Pancreas(3.6)
  • Nervous system(3.3)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PCSK1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Head and neck:
  • brain
  • ear
  • head
  • pituitary gland
  • breast
  • esophagus
  • heart
  • adrenal gland
  • intestine
  • large intestine
  • pancreas
  • small intestine
  • stomach
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
  • blood
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with PCSK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PCSK1 Gene

Orthologs for PCSK1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PCSK1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PCSK1 34 33
  • 99.65 (n)
(Canis familiaris)
Mammalia PCSK1 34 33
  • 91.54 (n)
(Bos Taurus)
Mammalia PCSK1 34 33
  • 89.95 (n)
(Mus musculus)
Mammalia Pcsk1 16 34 33
  • 88.53 (n)
(Monodelphis domestica)
Mammalia PCSK1 34
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia PCSK1 34
  • 84 (a)
(Gallus gallus)
Aves PCSK1 34 33
  • 76.35 (n)
(Anolis carolinensis)
Reptilia PCSK1 34
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pcsk1 33
  • 70.99 (n)
(Danio rerio)
Actinopterygii pcsk1 34 33
  • 69.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta Fur1 34 35
  • 27 (a)
(Caenorhabditis elegans)
Secernentea bli-4 35 33
  • 52.01 (n)
kpc-1 35
  • 47 (a)
aex-5 35
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEX2 34
  • 30 (a)
Species where no ortholog for PCSK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PCSK1 Gene

Gene Tree for PCSK1 (if available)
Gene Tree for PCSK1 (if available)
Evolutionary constrained regions (ECRs) for PCSK1: view image

Paralogs for PCSK1 Gene

Paralogs for PCSK1 Gene

(6) SIMAP similar genes for PCSK1 Gene using alignment to 3 proteins:

  • A1L3V6_HUMAN
genes like me logo Genes that share paralogs with PCSK1: view

Variants for PCSK1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PCSK1 Gene

Genetic variations in PCSK1 define the body mass index quantitative trait locus 12 (BMIQ12) [MIM:612362]. Variance in body mass index is a susceptibility factor for obesity.

Sequence variations from dbSNP and Humsavar for PCSK1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1034062614 uncertain-significance, Proprotein convertase 1/3 deficiency, Monogenic Non-Syndromic Obesity 96,391,089(-) C/T 3_prime_UTR_variant
rs1042627744 uncertain-significance, Monogenic Non-Syndromic Obesity, Proprotein convertase 1/3 deficiency 96,392,913(-) C/G 3_prime_UTR_variant
rs10515236 uncertain-significance, Proprotein convertase 1/3 deficiency, Monogenic Non-Syndromic Obesity 96,391,159(-) C/T 3_prime_UTR_variant
rs115434587 uncertain-significance, Proprotein convertase 1/3 deficiency, Monogenic Non-Syndromic Obesity 96,392,404(-) A/G 3_prime_UTR_variant
rs137852821 pathogenic, Proprotein convertase 1/3 deficiency, Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955] 96,399,020(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for PCSK1 Gene

Variant ID Type Subtype PubMed ID
esv3570258 CNV loss 25503493
nsv1021263 CNV loss 25217958

Variation tolerance for PCSK1 Gene

Residual Variation Intolerance Score: 24.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.25; 85.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCSK1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

Disorders for PCSK1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PCSK1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
proprotein convertase 1/3 deficiency
  • obesity and endocrinopathy due to impaired processing of prohormones
body mass index quantitative trait locus 12
  • bmiq12
  • adrenal gland hypofunction
  • hpri
kallmann syndrome
  • hypogonadotropic hypogonadism and anosmia
- elite association - COSMIC cancer census association via MalaCards
Search PCSK1 in MalaCards View complete list of genes associated with diseases


  • Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]: Characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones. {ECO:0000269 PubMed:14617756, ECO:0000269 PubMed:17595246, ECO:0000269 PubMed:9207799}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PCSK1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PCSK1: view

No data available for Genatlas for PCSK1 Gene

Publications for PCSK1 Gene

  1. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. (PMID: 9207799) Jackson RS … O'Rahilly S (Nature genetics 1997) 3 4 22 44 58
  2. Common nonsynonymous variants in PCSK1 confer risk of obesity. (PMID: 18604207) Benzinou M … Froguel P (Nature genetics 2008) 3 4 44 58
  3. Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. (PMID: 14617756) Jackson RS … O'Rahilly S (The Journal of clinical investigation 2003) 3 4 22 58
  4. Human prohormone convertase 3 gene: exon-intron organization and molecular scanning for mutations in Japanese subjects with NIDDM. (PMID: 8666140) Ohagi S … Nanjo K (Diabetes 1996) 3 4 22 58
  5. Neuroendocrine-specific expression of the human prohormone convertase 1 gene. Hormonal regulation of transcription through distinct cAMP response elements. (PMID: 7797529) Jansen E … Van de Ven WJ (The Journal of biological chemistry 1995) 3 4 22 58

Products for PCSK1 Gene

Sources for PCSK1 Gene

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