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Aliases for PCSK1N Gene

Aliases for PCSK1N Gene

  • Proprotein Convertase Subtilisin/Kexin Type 1 Inhibitor 2 3 4 5
  • Proprotein Convertase 1 Inhibitor 3 4
  • Pro-SAAS 3 4
  • Granin-Like Neuroendocrine Peptide 3
  • PROSAAS 3
  • ProSAAS 3
  • BigLEN 3
  • SgVIII 3
  • SAAS 3
  • SCG8 3
  • PEN 3

External Ids for PCSK1N Gene

Previous GeneCards Identifiers for PCSK1N Gene

  • GC0XM047492
  • GC0XM046950
  • GC0XM047735
  • GC0XM048445
  • GC0XM048575
  • GC0XM048689
  • GC0XM046350

Summaries for PCSK1N Gene

Entrez Gene Summary for PCSK1N Gene

  • The protein encoded by this gene functions as an inhibitor of prohormone convertase 1, which regulates the proteolytic cleavage of neuroendocrine peptide precursors. The proprotein is further processed into multiple short peptides. A polymorphism within this gene may be associated with obesity. [provided by RefSeq, Aug 2013]

GeneCards Summary for PCSK1N Gene

PCSK1N (Proprotein Convertase Subtilisin/Kexin Type 1 Inhibitor) is a Protein Coding gene. Diseases associated with PCSK1N include Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 and Frontotemporal Dementia. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot for PCSK1N Gene

  • May function in the control of the neuroendocrine secretory pathway. Proposed be a specific endogenous inhibitor of PCSK1. ProSAAS and Big PEN-LEN, both containing the C-terminal inhibitory domain, but not the further processed peptides reduce PCSK1 activity in the endoplasmic reticulum and Golgi. It reduces the activity of the 84 kDa form but not the autocatalytically derived 66 kDa form of PCSK1. Subsequent processing of proSAAS may eliminate the inhibition. Slows down convertase-mediated processing of proopiomelanocortin and proenkephalin. May control the intracellular timing of PCSK1 rather than its total level of activity. The function of the processed secreted peptides is not known (By similarity).

Additional gene information for PCSK1N Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCSK1N Gene

Genomics for PCSK1N Gene

GeneHancer (GH) Regulatory Elements for PCSK1N Gene

Promoters and enhancers for PCSK1N 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
GH0XJ048834 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 660.1 +0.5 457 2.3 ZNF133 ARID4B GLI4 ZNF2 KLF7 SP3 SP5 YY2 MIER2 REST PCSK1N ZNF81 ENSG00000204620 FTSJ1 ENSG00000270012 ZNF182 CCDC120 PRAF2 PQBP1 SYP
GH0XJ048954 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 5.5 -123.1 -123130 8.1 HDGF PKNOX1 CLOCK SMAD1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 IRF4 OTUD5 RNU6-722P GPKOW PIM2 SLC35A2 PCSK1N ENSG00000228343 KCND1 GRIPAP1
GH0XJ048569 Enhancer 1.1 FANTOM5 Ensembl ENCODE 4.7 +265.2 265240 1.2 SRF ZNF687 JUN JUNB EBF1 FEZF1 BATF ATF2 IRF4 BCL11A EBP PCSK1N RBM3 ENSG00000204620 GC0XM048562
GH0XJ048867 Enhancer 0.9 ENCODE 0.3 -32.4 -32419 0.3 ATF1 PKNOX1 FOXA2 ARNT BRCA1 ETS1 TCF12 E2F8 ATF7 FOS FTSJ1 ERAS ENSG00000270012 GLOD5 ZNF182 PQBP1 ZNF630 ENSG00000204620 PCSK1N
GH0XJ048890 Enhancer 1.1 Ensembl ENCODE 0.2 -55.8 -55776 2 ARID4B SIN3A ZNF48 GLIS2 ZNF143 ATF7 SP3 REST GMEB1 GLIS1 SLC35A2 PIM2 ERAS GLOD5 GRIPAP1 PQBP1 PCSK1N
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCSK1N on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCSK1N gene promoter:
  • Pax-5
  • GATA-1
  • c-Myb
  • ARP-1
  • Lmo2
  • MyoD
  • AP-1
  • MAZR
  • NF-E2 p45
  • NF-E2

Genomic Locations for PCSK1N Gene

Genomic Locations for PCSK1N Gene
chrX:48,831,092-48,835,638
(GRCh38/hg38)
Size:
4,547 bases
Orientation:
Minus strand
chrX:48,689,504-48,694,035
(GRCh37/hg19)
Size:
4,532 bases
Orientation:
Minus strand

Genomic View for PCSK1N Gene

Genes around PCSK1N on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCSK1N Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCSK1N Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCSK1N Gene

Proteins for PCSK1N Gene

  • Protein details for PCSK1N Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHG2-PCSK1_HUMAN
    Recommended name:
    ProSAAS
    Protein Accession:
    Q9UHG2
    Secondary Accessions:
    • Q4VC04

    Protein attributes for PCSK1N Gene

    Size:
    260 amino acids
    Molecular mass:
    27372 Da
    Quaternary structure:
    • Interacts via the C-terminal inhibitory domain with PCSK1 66 kDa form.

neXtProt entry for PCSK1N Gene

Post-translational modifications for PCSK1N Gene

  • Proteolytically cleaved in the Golgi.
  • O-glycosylated with a core 1 or possibly core 8 glycan.
  • Glycosylation at isoforms=247, Ser228, and isoforms=53
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PCSK1_HUMAN (743)

Other Protein References for PCSK1N Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCSK1N Gene

Domains & Families for PCSK1N Gene

Gene Families for PCSK1N Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for PCSK1N Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PCSK1N Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHG2

UniProtKB/Swiss-Prot:

PCSK1_HUMAN :
  • ProSAAS(1-180) increases secretion of enzymatically inactive PCSK1.
Domain:
  • ProSAAS(1-180) increases secretion of enzymatically inactive PCSK1.
  • The C-terminal inhibitory domain is involved in inhibition of PCSK1. It corresponds to the probable processing intermediate Big PEN-LEN, binds to PCSK1 in vitro and contains the hexapeptide L-L-R-V-K-R, which, as a synthetic peptide, is sufficient for PCSK1 inhibition (By similarity).
genes like me logo Genes that share domains with PCSK1N: view

Function for PCSK1N Gene

Molecular function for PCSK1N Gene

UniProtKB/Swiss-Prot Function:
May function in the control of the neuroendocrine secretory pathway. Proposed be a specific endogenous inhibitor of PCSK1. ProSAAS and Big PEN-LEN, both containing the C-terminal inhibitory domain, but not the further processed peptides reduce PCSK1 activity in the endoplasmic reticulum and Golgi. It reduces the activity of the 84 kDa form but not the autocatalytically derived 66 kDa form of PCSK1. Subsequent processing of proSAAS may eliminate the inhibition. Slows down convertase-mediated processing of proopiomelanocortin and proenkephalin. May control the intracellular timing of PCSK1 rather than its total level of activity. The function of the processed secreted peptides is not known (By similarity).

Phenotypes From GWAS Catalog for PCSK1N Gene

Gene Ontology (GO) - Molecular Function for PCSK1N Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity TAS 10632593
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0005102 signaling receptor binding TAS 10632593
genes like me logo Genes that share ontologies with PCSK1N: view
genes like me logo Genes that share phenotypes with PCSK1N: view

Animal Models for PCSK1N Gene

MGI Knock Outs for PCSK1N:

Animal Model Products

  • Taconic Biosciences Mouse Models for PCSK1N

miRNA for PCSK1N Gene

miRTarBase miRNAs that target PCSK1N

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCSK1N Gene

Localization for PCSK1N Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCSK1N Gene

Secreted. Golgi apparatus, trans-Golgi network. Note=A N-terminal processed peptide, probably Big SAAS or Little SAAS, is accumulated in cytoplasmic protein tau deposits in frontotemporal dementia and parkinsonism linked to chromosome 17 (Pick disease), Alzheimer disease and amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 (Guam disease). {ECO:0000269 PubMed:12914799, ECO:0000269 PubMed:14746899}.

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 PCSK1N gene
Compartment Confidence
extracellular 5
golgi apparatus 2
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PCSK1N Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA,IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IEA --
GO:0030141 secretory granule IEA --
genes like me logo Genes that share ontologies with PCSK1N: view

Pathways & Interactions for PCSK1N Gene

SuperPathways for PCSK1N Gene

No Data Available

Gene Ontology (GO) - Biological Process for PCSK1N Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002021 response to dietary excess IEA --
GO:0007218 neuropeptide signaling pathway IEA --
GO:0009409 response to cold IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0016486 peptide hormone processing IEA --
genes like me logo Genes that share ontologies with PCSK1N: view

No data available for Pathways by source and SIGNOR curated interactions for PCSK1N Gene

Drugs & Compounds for PCSK1N Gene

No Compound Related Data Available

Transcripts for PCSK1N Gene

mRNA/cDNA for PCSK1N Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(407) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PCSK1N Gene

Proprotein convertase subtilisin/kexin type 1 inhibitor:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCSK1N Gene

No ASD Table

Relevant External Links for PCSK1N Gene

GeneLoc Exon Structure for
PCSK1N
ECgene alternative splicing isoforms for
PCSK1N

Expression for PCSK1N Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCSK1N Gene

mRNA differential expression in normal tissues according to GTEx for PCSK1N Gene

This gene is overexpressed in Pituitary (x12.2), Brain - Hypothalamus (x4.7), Brain - Nucleus accumbens (basal ganglia) (x4.1), and Brain - Putamen (basal ganglia) (x4.0).

Protein differential expression in normal tissues from HIPED for PCSK1N Gene

This gene is overexpressed in Cerebrospinal fluid (16.9), Fetal Brain (11.9), Islet of Langerhans (9.8), and Brain (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PCSK1N Gene



Protein tissue co-expression partners for PCSK1N Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PCSK1N Gene:

PCSK1N

SOURCE GeneReport for Unigene cluster for PCSK1N Gene:

Hs.522640

mRNA Expression by UniProt/SwissProt for PCSK1N Gene:

Q9UHG2-PCSK1_HUMAN
Tissue specificity: Expressed in brain and pancreas.

Evidence on tissue expression from TISSUES for PCSK1N Gene

  • Nervous system(4.9)
  • Pancreas(4.8)
  • Kidney(2.7)
genes like me logo Genes that share expression patterns with PCSK1N: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PCSK1N Gene

Orthologs for PCSK1N Gene

This gene was present in the common ancestor of mammals.

Orthologs for PCSK1N Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCSK1N 33
  • 87.53 (n)
dog
(Canis familiaris)
Mammalia PCSK1N 34 33
  • 86.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PCSK1N 34 33
  • 85.33 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pcsk1n 16 34 33
  • 82.04 (n)
rat
(Rattus norvegicus)
Mammalia Pcsk1n 33
  • 80.9 (n)
Species where no ortholog for PCSK1N 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PCSK1N Gene

ENSEMBL:
Gene Tree for PCSK1N (if available)
TreeFam:
Gene Tree for PCSK1N (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PCSK1N: view image

Paralogs for PCSK1N Gene

No data available for Paralogs for PCSK1N Gene

Variants for PCSK1N Gene

Sequence variations from dbSNP and Humsavar for PCSK1N Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1001983888 -- 48,831,774(-) G/A intron_variant
rs1002013414 -- 48,832,289(-) G/A coding_sequence_variant, missense_variant
rs1002985240 -- 48,834,382(-) C/T intron_variant
rs1003016620 -- 48,834,844(-) G/C intron_variant
rs1004393717 -- 48,837,166(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PCSK1N Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV gain+loss 17666407
esv3576862 CNV gain 25503493
nsv528292 CNV gain 19592680

Variation tolerance for PCSK1N Gene

Gene Damage Index Score: 0.08; 1.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCSK1N Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCSK1N

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCSK1N Gene

Disorders for PCSK1N Gene

MalaCards: The human disease database

(5) MalaCards diseases for PCSK1N Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
  • amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam
frontotemporal dementia
  • ftd
splenic artery aneurysm
  • aneurysm of splenic artery
subclavian artery aneurysm
  • aneurysm of subclavian artery
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PCSK1N

genes like me logo Genes that share disorders with PCSK1N: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCSK1N Gene

Publications for PCSK1N Gene

  1. Identification and characterization of proSAAS, a granin-like neuroendocrine peptide precursor that inhibits prohormone processing. (PMID: 10632593) Fricker LD … Douglass J (The Journal of neuroscience : the official journal of the Society for Neuroscience 2000) 2 3 4 22 58
  2. A human granin-like neuroendocrine peptide precursor (proSAAS) immunoreactivity in tau inclusions of Alzheimer's disease and parkinsonism-dementia complex on Guam. (PMID: 14746899) Wada M … Kato T (Neuroscience letters 2004) 3 4 22 58
  3. An N-terminal fragment of ProSAAS (a granin-like neuroendocrine peptide precursor) is associated with tau inclusions in Pick's disease. (PMID: 12914799) Kikuchi K … Kato T (Biochemical and biophysical research communications 2003) 3 4 22 58
  4. Identification of proSAAS homologs in lower vertebrates: conservation of hydrophobic helices and convertase-inhibiting sequences. (PMID: 18948394) Kudo H … Lindberg I (Endocrinology 2009) 3 22 58
  5. Proteomic analysis of the cerebrospinal fluid of patients with lumbar disk herniation. (PMID: 16372267) Liu XD … Xia QC (Proteomics 2006) 3 22 58

Products for PCSK1N Gene

Sources for PCSK1N Gene

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