PCSK1 Gene (Protein Coding)

Proprotein Convertase Subtilisin/Kexin Type 1

GC05M096391
GIFtS:
46
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 subcellula... See more...

Aliases for PCSK1 Gene

Aliases for PCSK1 Gene

  • Proprotein Convertase Subtilisin/Kexin Type 1 2 3 5
  • Neuroendocrine Convertase 1 2 3 4
  • Prohormone Convertase 1 2 3 4
  • Prohormone Convertase 3 2 3
  • Proprotein Convertase 1 2 4
  • EC 3.4.21.93 4 52
  • NEC1 3 4
  • PC1 3 4
  • EC 3.4.21 52
  • 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 Peptide hormone metabolism and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. 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 Summary 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 , Rfam classification 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
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH05J096436 Promoter 0.9 Ensembl 500.7 +1.4 1442 0.6 SAP30 HDAC2 POLR2A MXI1 ZNF76 YY1 PHF8 EZH2 ZBTB48 ZNF335 PCSK1 lnc-CAST-9 lnc-PCSK1-2 piR-48799-112 LOC101929710
GH05J096435 Enhancer 0.9 Ensembl 508.7 -0.3 -257 1.2 CTCF REST AFF1 SAP30 ZBTB25 TGIF2 ZBTB26 HDAC2 ZSCAN9 MIER1 PCSK1 lnc-CAST-9 lnc-PCSK1-2 RIOK2 TTC37 LOC102724070 LOC101929710
GH05J096433 Promoter 0.7 EPDnew 500.7 +0.9 875 0.1 EZH2 CTCF ZBTB21 ZNF629 SUZ12 POLR2A RAD21 PCSK1 lnc-CAST-9 lnc-PCSK1-2 LOC101929710
GH05J096412 Promoter 0.3 EPDnew 512 +21.1 21141 0.1 PCSK1 LOC101929710 lnc-PCSK1-2 piR-48799-112
GH05J095957 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.8 +473.6 473559 8 ZBTB40 CTCF ZSCAN5C TCF12 SIN3A POLR2G SP1 GTF2E2 JUND PHF8 ELL2 LOC101929710 lnc-GLRX-5 CAST PCSK1 AB372744
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCSK1

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

Genomic Locations for PCSK1 Gene

Genomic Locations for PCSK1 Gene
chr5:96,390,333-96,434,143
(GRCh38/hg38)
Size:
43,811 bases
Orientation:
Minus strand
chr5:95,726,040-95,769,847
(GRCh37/hg19)
Size:
43,808 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for PCSK1 Gene

Proteins for PCSK1 Gene

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  • 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

Protein Expression for PCSK1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PCSK1 Gene

P29120:
  • WKLILHGTSSQPEHMKQPRVYTSYNTVQNDRRGVEK
  • GSIFVWA
  • LTWRDMQHL
  • HGTRCAGE
  • FYNTKPYKHRDDRLLQAL
  • GFGLLNA
  • FEPRALKANGEVI
  • HTGTSASAP
  • ASYDFND
  • ELGYDLLGQIGSLENHYLFKH
  • LFNDPMWNQQWYLQDTRMTA
  • NENKHGTRCAGEIAMQANNHKCGVGVAYNSKVGGIRMLD
  • QNEGRIV
  • WASGNGG
  • CGVGVAY
  • AMLRLLQSAFSKN
  • NYDPEAS
  • IGFNPGHVDIYSASWGPNDDGKTVEGPGRLAQKAFEYGV

Post-translational modifications for PCSK1 Gene

  • O-glycosylated.
  • Glycosylation at Asn173, Asn401, Thr632, Thr640, and Ser643
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • NEC1_HUMAN (673)

Other Protein References for PCSK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PCSK1 Gene

Gene Families for PCSK1 Gene

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

Protein Domains for PCSK1 Gene

Blocks:
  • Subtilisin serine protease family (S8) signature
  • Proprotein convertase, P domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PCSK1 Gene

GenScript: Design optimal peptide antigens:
  • Proprotein convertase subtilisin/kexin type 1 (A1L3V6_HUMAN)
  • Proprotein convertase 1 (NEC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P29120

UniProtKB/Swiss-Prot:

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

Function for PCSK1 Gene

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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:
Reaction=Release of protein hormones, neuropeptides and renin from their precursors, generally by hydrolysis of -Lys-Arg- - bonds.; EC=3.4.21.93;.
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 --
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

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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

COMPARTMENTS
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
cytosol 3
golgi apparatus 3
plasma membrane 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for PCSK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA,IBA 8397508
GO:0016020 membrane IBA 21873635
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

SIGNOR curated interactions for PCSK1 Gene

Is activated by:

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 IBA 21873635
GO:0016486 peptide hormone processing TAS,IBA --
GO:0043043 peptide biosynthetic process ISS --
genes like me logo Genes that share ontologies with PCSK1: view

Drugs & Compounds for PCSK1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
Insulin human Approved, Investigational Pharma Enzyme, activator 0
Insulin pork Approved Pharma Target 0
Adrenocorticotropic Hormone Pharma 219
Aluminum hydroxide, magnesium hydroxide, simethicone drug combination Pharma 59

(15) 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

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mRNA/cDNA for PCSK1 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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
PCSK1

Expression for PCSK1 Gene

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

mRNA expression in normal human tissues for PCSK1 Gene
mRNA expression by BioGPS for PCSK1 GenemRNA expression by GTEx 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCSK1

SOURCE GeneReport for Unigene cluster for PCSK1 Gene:

Hs.78977

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
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
  • pituitary gland
Thorax:
  • breast
  • esophagus
  • heart
Abdomen:
  • adrenal gland
  • intestine
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • 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
chimpanzee
(Pan troglodytes)
 Mammalia PCSK1 31 30
  • 99.65 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia PCSK1 31 30
  • 91.54 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia PCSK1 31 30
  • 89.95 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Pcsk1 17 31 30
  • 88.53 (n)
oppossum
(Monodelphis domestica)
 Mammalia PCSK1 31
  • 85 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PCSK1 31
  • 84 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PCSK1 31 30
  • 76.35 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PCSK1 31
  • 67 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pcsk1 30
  • 70.99 (n)
zebrafish
(Danio rerio)
 Actinopterygii pcsk1 31 30
  • 69.72 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Fur1 31 32
  • 27 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea bli-4 32 30
  • 52.01 (n)
kpc-1 32
  • 47 (a)
aex-5 32
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes KEX2 31
  • 30 (a)
 OneToMany
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

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

  • NEC1_HUMAN
  • A1L3V6_HUMAN
  • D6RJA3_HUMAN
genes like me logo Genes that share paralogs with PCSK1: view

Variants for PCSK1 Gene

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Polymorphic Variants from UniProtKB/Swiss-Prot for PCSK1 Gene

NEC1_HUMAN-P29120
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCSK1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
14037 Pathogenic: Proprotein convertase 1/3 deficiency 96,421,876(-) T/G INTRON_VARIANT
596616 Uncertain Significance: not provided 96,416,066(-) C/T MISSENSE_VARIANT
rs1026383684 Uncertain Significance: not provided 96,399,978(-) C/T MISSENSE_VARIANT
rs10515236 Uncertain Significance: Proprotein convertase 1/3 deficiency; Monogenic Non-Syndromic Obesity 96,391,159(-) C/T THREE_PRIME_UTR_VARIANT
rs115434587 Uncertain Significance: Proprotein convertase 1/3 deficiency; Monogenic Non-Syndromic Obesity 96,392,404(-) A/G THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for PCSK1 Gene

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)
PCSK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCSK1

SNP Genotyping and Copy Number Assay Products

Disorders for PCSK1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for PCSK1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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
  • obesity
syndromic obesity
hypogonadism
hypoadrenalism
  • adrenal gland hypofunction
- elite association - COSMIC cancer census association via MalaCards
Search PCSK1 in MalaCards View complete list of genes associated with diseases

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. {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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 41 54
  2. Common nonsynonymous variants in PCSK1 confer risk of obesity. (PMID: 18604207) Benzinou M … Froguel P (Nature genetics 2008) 3 4 41 54
  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 23 54
  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 23 54
  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 23 54

ExternalLinks

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