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Aliases for PCSK1 Gene

Aliases for PCSK1 Gene

  • Proprotein Convertase Subtilisin/Kexin Type 1 2 3
  • Prohormone Convertase 1 2 3 4
  • NEC1 3 4 6
  • PC1 3 4 6
  • Neuroendocrine Convertase 1 2 3
  • Prohormone Convertase 3 2 3
  • Proprotein Convertase 1 2 4
  • EC 3.4.21.93 4 64
  • BMIQ12 3 6
  • PC3 3 6
  • EC 3.4.21 64
  • NEC 1 4
  • SPC3 3

External Ids for PCSK1 Gene

Previous Symbols for PCSK1 Gene

  • NEC1

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 obesity with impaired prohormone processing and obesity bmiq12. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Neuroscience. GO annotations related to this gene include serine-type 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 and insulin

Gene Wiki entry for PCSK1 Gene

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

Genomics for PCSK1 Gene

Genomic Location for PCSK1 Gene

Start:
96,390,336 bp from pter
End:
96,434,143 bp from pter
Size:
43,808 bases
Orientation:
Minus strand

Genomic View for PCSK1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PCSK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCSK1 Gene

Regulatory Elements for PCSK1 Gene

Proteins for PCSK1 Gene

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

    Protein Symbol:
    P29120-NEC1_HUMAN
    Recommended name:
    Neuroendocrine convertase 1
    Protein Accession:
    P29120
    Secondary Accessions:
    • B7Z8T7
    • E9PHA1
    • P78478
    • Q92532

    Protein attributes for PCSK1 Gene

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

    Alternative splice isoforms for PCSK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCSK1 Gene

Proteomics data for PCSK1 Gene at MOPED

Post-translational modifications for PCSK1 Gene

Other Protein References for PCSK1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for PCSK1 Gene

UniProtKB/Swiss-Prot:

NEC1_HUMAN
Domain:
  • Contains 1 peptidase S8 domain.:
    • P29120
Family:
  • Belongs to the peptidase S8 family. Furin subfamily.:
    • P29120
genes like me logo Genes that share domains with PCSK1: view

No data available for Gene Families for PCSK1 Gene

Function for PCSK1 Gene

Molecular function for PCSK1 Gene

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
UniProtKB/Swiss-Prot CatalyticActivity: Release of protein hormones, neuropeptides and renin from their precursors, generally by hydrolysis of -Lys-Arg- - bonds
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 and insulin

Enzyme Numbers (IUBMB) for PCSK1 Gene

Gene Ontology (GO) - Molecular Function for PCSK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity --
GO:0004252 serine-type endopeptidase activity TAS --
genes like me logo Genes that share ontologies with PCSK1: view
genes like me logo Genes that share phenotypes with PCSK1: view

Animal Models for PCSK1 Gene

MGI Knock Outs for PCSK1:

miRNA for PCSK1 Gene

miRTarBase miRNAs that target PCSK1

No data available for Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for PCSK1 Gene COMPARTMENTS Subcellular localization image for PCSK1 gene
Compartment Confidence
extracellular 4
golgi apparatus 3
mitochondrion 2
cytosol 1
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PCSK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 8397508
GO:0005794 Golgi apparatus IBA --
GO:0030133 transport vesicle IEA --
GO:0034774 secretory granule lumen TAS --
genes like me logo Genes that share ontologies with PCSK1: view

Pathways for PCSK1 Gene

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

Pathways by source for PCSK1 Gene

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:0008152 metabolic process TAS 9207799
GO:0016485 protein processing --
GO:0016486 peptide hormone processing TAS --
genes like me logo Genes that share ontologies with PCSK1: view

Compounds for PCSK1 Gene

(1) HMDB Compounds for PCSK1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(2) Drugbank Compounds for PCSK1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Insulin Regular
11061-68-0 target
Insulin, porcine
9004-14-2 target

(25) Novoseek inferred chemical compound relationships for PCSK1 Gene

Compound -log(P) Hits PubMed IDs
spc3 90.8 39
proglucagon 81.4 19
peptidylglycine 80.5 5
pro-oxytocin 77.3 2
preproinsulin 65.9 1
genes like me logo Genes that share compounds with PCSK1: view

Transcripts for PCSK1 Gene

Unigene Clusters for PCSK1 Gene

Proprotein convertase subtilisin/kexin type 1:
Representative Sequences:

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
PCSK1
ECgene alternative splicing isoforms for
PCSK1

Expression for PCSK1 Gene

mRNA expression in normal human tissues for PCSK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Hypothalamus (14.5), Brain - Frontal Cortex (BA9) (7.0), Brain - Anterior cingulate cortex (BA24) (5.8), and Brain - Cortex (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PCSK1 Gene

SOURCE GeneReport for Unigene cluster for PCSK1 Gene Hs.78977

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

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
chimpanzee
(Pan troglodytes)
Mammalia PCSK1 36
  • 99.65 (n)
  • 99.87 (a)
PCSK1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PCSK1 36
  • 89.95 (n)
  • 94.69 (a)
PCSK1 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCSK1 36
  • 91.54 (n)
  • 96.41 (a)
PCSK1 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcsk1 36
  • 88.53 (n)
  • 92.56 (a)
Pcsk1 16
Pcsk1 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PCSK1 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCSK1 37
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCSK1 36
  • 76.35 (n)
  • 83.78 (a)
PCSK1 37
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCSK1 37
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcsk1 36
  • 70.99 (n)
  • 75.27 (a)
zebrafish
(Danio rerio)
Actinopterygii pcsk1 36
  • 69.72 (n)
  • 73.99 (a)
pcsk1 37
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Fur1 37
  • 27 (a)
OneToOne
Fur1 38
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea bli-4 36
  • 52.01 (n)
  • 48.83 (a)
bli-4 38
  • 46 (a)
aex-5 38
  • 35 (a)
kpc-1 38
  • 47 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEX2 37
  • 30 (a)
OneToMany
Species with no ortholog for PCSK1:
  • 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

ENSEMBL:
Gene Tree for PCSK1 (if available)
TreeFam:
Gene Tree for PCSK1 (if available)

Paralogs for PCSK1 Gene

Paralogs for PCSK1 Gene

Selected SIMAP similar genes for PCSK1 Gene using alignment to 3 proteins:

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

Variants for PCSK1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PCSK1 Gene

P29120-NEC1_HUMAN
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 Sequence Context AA Info Type MAF
rs6230 -- 96,433,143(-) TGGTC(C/T)AGAGC utr-variant-5-prime, upstream-variant-2KB
rs155979 -- 96,434,194(-) TGTTT(C/G)CTTGC upstream-variant-2KB
rs155980 -- 96,434,634(+) TTGTT(G/T)TTTTT upstream-variant-2KB
rs155981 -- 96,434,717(+) CATAT(A/G)AACAA upstream-variant-2KB
rs725522 -- 96,432,826(+) CCCTG(A/G)GGCCC intron-variant, upstream-variant-2KB

Relevant External Links for PCSK1 Gene

HapMap Linkage Disequilibrium report
PCSK1
Human Gene Mutation Database (HGMD)
PCSK1

No data available for Structural Variations from Database of Genomic Variants (DGV) for PCSK1 Gene

Disorders for PCSK1 Gene

(2) OMIM Diseases for PCSK1 Gene (162150)

UniProtKB/Swiss-Prot

NEC1_HUMAN
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

(23) Novoseek inferred disease relationships for PCSK1 Gene

Disease -log(P) Hits PubMed IDs
kallmann syndrome 63.9 2
adpkd 56.8 7
glucagonoma 51.4 1
addisons disease 50.8 4
insulinoma 48.3 2

Relevant External Links for PCSK1

Genetic Association Database (GAD)
PCSK1
Human Genome Epidemiology (HuGE) Navigator
PCSK1
genes like me logo Genes that share disorders with PCSK1: view

Publications for PCSK1 Gene

  1. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. (PMID: 9207799) Jackson R.S. … O'Rahilly S. (Nat. Genet. 1997) 3 4 23 49
  2. 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 23
  3. Neuroendocrine-specific expression of the human prohormone convertase 1 gene. Hormonal regulation of transcription through distinct cAMP response elements. (PMID: 7797529) Jansen E. (J. Biol. Chem. 1995) 3 4 23
  4. Chromosomal assignments of the genes for neuroendocrine convertase PC1 (NEC1) to human 5q15-21, neuroendocrine convertase PC2 (NEC2) to human 20p11.1-11.2, and furin (mouse 7[D1-E2] region). (PMID: 1765368) Seidah N.G. … ChrActien M. (Genomics 1991) 2 3 23
  5. Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. (PMID: 14617756) Jackson R.S. … O'Rahilly S. (J. Clin. Invest. 2003) 3 4 23

Products for PCSK1 Gene

Sources for PCSK1 Gene

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