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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
External Ids for PCSK1 Gene
- HGNC: 8743
- NCBI Entrez Gene: 5122
- Ensembl: ENSG00000175426
- OMIM®: 162150
- UniProtKB/Swiss-Prot: P29120
Previous HGNC Symbols for PCSK1 Gene
- NEC1
Previous GeneCards Identifiers for PCSK1 Gene
- GC05M094956
- GC05M096190
- GC05M095754
- GC05M095800
- GC05M095751
- GC05M090916
Summaries 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 Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Incretin synthesis, secretion, and inactivation. 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.
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 Pubs
Promoters and enhancers for PCSK1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
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
Latest Assembly
- chr5:96,390,333-96,434,143
- (GRCh38/hg38)
- Size:
- 43,811 bases
- Orientation:
- Minus strand
Previous Assembly
- chr5:95,726,037-95,768,952
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 42,916 bases
- Orientation:
- Minus strand
Genomic View for PCSK1 Gene
Genes around PCSK1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q15 by HGNC
- 5q15 by Entrez Gene
- 5q15 by Ensembl
PCSK1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence 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
- 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
Protein Expression for PCSK1 Gene
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
Other Protein References for PCSK1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences PCSK1 Monoclonal Antibody and PCSK1 Antibody
- NSJ Bioreagents Proprotein Convertase 1/3 Antibody
-
Custom Antibody ServicesOriGene Antibodies for PCSK1
- Novus Biologicals Antibodies for PCSK1
-
Abcam antibodies for PCSK1
- Invitrogen Antibodies for PCSK1 (AFLGC-PCSK1)
-
Biorbyt antibodies for PCSK1
-
Boster Bio Antibodies for PCSK1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PCSK1
- Sino Biological Antibodies for PCSK1
Protein products for research
-
OriGene Purified Proteins for PCSK1
- Search Origene for MassSpec and Protein Over-expression Lysates for PCSK1
- Origene Custom Protein Services for PCSK1
- Sino Biological Recombinant Proteins for PCSK1
- Sino Biological Cell Lysates for PCSK1
-
Abcam proteins for PCSK1
Assay products for research
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
- InterPro:
- Blocks:
-
- Subtilisin serine protease family (S8) signature
- Proprotein convertase, P domain
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- Family:
-
- Belongs to the peptidase S8 family. Furin subfamily.
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:
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004175 | endopeptidase activity | IEA | -- |
| GO:0004252 | serine-type endopeptidase activity | ISS | -- |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0008236 | serine-type peptidase activity | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for PCSK1 Gene
- MGI mutant phenotypes for PCSK1:
-
inferred from 5 alleles
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- mortality/aging
- hematopoietic system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for PCSK1:
-
- shRNA abundance <= 50%
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Increased homologous recombination repair frequency
Animal Models for PCSK1 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PCSK1 - Starting at $85 >
- * PCSK1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PCSK1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PCSK1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PCSK1
miRNA for PCSK1 Gene
- miRTarBase miRNAs that target PCSK1
-
- hsa-miR-26b-5p (MIRT029995)
- hsa-miR-1185-1-3p (MIRT440017)
- hsa-miR-493-5p (MIRT440018)
- hsa-miR-1185-2-3p (MIRT440019)
- hsa-miR-485-5p (MIRT440020)
- hsa-miR-3942-3p (MIRT530359)
- hsa-miR-498 (MIRT530360)
- hsa-miR-4777-5p (MIRT530361)
- hsa-miR-526a (MIRT530362)
- hsa-miR-523-5p (MIRT530363)
- hsa-miR-522-5p (MIRT530364)
- hsa-miR-520c-5p (MIRT530365)
- hsa-miR-519c-5p (MIRT530366)
- hsa-miR-519b-5p (MIRT530367)
- hsa-miR-519a-5p (MIRT530368)
- hsa-miR-518f-5p (MIRT530369)
- hsa-miR-518e-5p (MIRT530370)
- hsa-miR-518d-5p (MIRT530371)
- hsa-miR-5100 (MIRT530372)
- hsa-miR-10b-3p (MIRT530373)
- hsa-miR-892c-5p (MIRT530374)
- hsa-miR-1179 (MIRT530375)
- hsa-miR-3156-5p (MIRT530376)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PCSK1
- Browse OriGene Inhibitory RNA Products For PCSK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCSK1
Clone products for research
- Applied Biological Materials (abm): Clones for PCSK1 - Starting at $45 >
- * PCSK1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG225451
- MR225451
- MR225451L3
- MR225451L4
- RC221711
- RC221711L1
- RC221711L2
- RC221711L3
- RC221711L4
- RC230090
- RC230090L3
- RC230090L4
- RC230447
- RC230447L3
- RC230447L4
- RG221711
- RG230090
- RG230447
- RR215613
- RR215613L3
- RR215613L4
- MR225451L3V
- MR225451L4V
- RC221711L1V
- RC221711L2V
- RC221711L3V
- RC221711L4V
- RC230090L3V
- RC230090L4V
- RC230447L3V
- RC230447L4V
- RR215613L3V
- RR215613L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PCSK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PCSK1
Cell Lines for research
-
Horizon Cell Lines for PCSK1
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.
| 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 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005615 | extracellular space | IBA,IDA | 8397508 |
| GO:0016020 | membrane | IBA | 21873635 |
| GO:0030133 | transport vesicle | IEA | -- |
| GO:0031410 | cytoplasmic vesicle | IEA | -- |
| GO:0034774 | secretory granule lumen | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PCSK1 Gene
Pathways & Interactions for PCSK1 Gene
Pathways by source for PCSK1 Gene
8 Reactome pathways for PCSK1 Gene
1 R&D Systems pathway for PCSK1 Gene
1 Cell Signaling Technology pathway for PCSK1 Gene
Interacting Proteins for PCSK1 Gene
GPS-Prot Interaction Network for PCSK1
| 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 | IBA,TAS | -- |
| GO:0043043 | peptide biosynthetic process | ISS | -- |
Drugs & Compounds for PCSK1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Insulin human | Approved, Investigational | Pharma | Enzyme, activator | 0 | ||
| Calcium | Nutra | 6959 | ||||
| Adrenocorticotropic Hormone | Pharma | 206 | ||||
| Aluminum hydroxide, magnesium hydroxide, simethicone drug combination | Pharma | 75 | ||||
| beta-Endorphin | Pharma | 151 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for PCSK1 Gene
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 :
-
- ENST00000311106 5136 nts (view in UCSC)
- ENST00000508626 2234 nts (view in UCSC)
- ENST00000509190 565 nts (view in UCSC)
- ENST00000513085 1481 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PCSK1 - Starting at $85 >
- * PCSK1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PCSK1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PCSK1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PCSK1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PCSK1
- Browse OriGene Inhibitory RNA Products For PCSK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCSK1
Clone products for research
- Applied Biological Materials (abm): Clones for PCSK1 - Starting at $45 >
- * PCSK1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG225451
- MR225451
- MR225451L3
- MR225451L4
- RC221711
- RC221711L1
- RC221711L2
- RC221711L3
- RC221711L4
- RC230090
- RC230090L3
- RC230090L4
- RC230447
- RC230447L3
- RC230447L4
- RG221711
- RG230090
- RG230447
- RR215613
- RR215613L3
- RR215613L4
- MR225451L3V
- MR225451L4V
- RC221711L1V
- RC221711L2V
- RC221711L3V
- RC221711L4V
- RC230090L3V
- RC230090L4V
- RC230447L3V
- RC230447L4V
- RR215613L3V
- RR215613L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PCSK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PCSK1
| 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
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).
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.78977Evidence on tissue expression from TISSUES for PCSK1 Gene
- Pancreas(3.8)
- Nervous system(3.5)
- Liver(2.5)
- Kidney(2.5)
- Heart(2.4)
- Muscle(2.3)
- Intestine(2.2)
- Skin(2.2)
- Stomach(2.1)
- Adrenal gland(2.1)
- Thyroid gland(2.1)
- Blood(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
Primer products for research
-
OriGene qPCR primer pairs for PCSK1
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PCSK1 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PCSK1 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PCSK1 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Pcsk1 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PCSK1 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PCSK1 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PCSK1 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PCSK1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pcsk1 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pcsk1 29 30 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Fur1 30 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | bli-4 29 31 |
|
||
| kpc-1 31 |
|
|
|||
| aex-5 31 |
|
|
|||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | KEX2 30 |
|
OneToMany |
- Species where no ortholog for PCSK1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
- Alliance of Genome Resources:
- Additional Orthologs for PCSK1
Paralogs for PCSK1 Gene
Variants for PCSK1 Gene
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 |
|---|---|---|---|---|---|
| 1032360 | Uncertain Significance: Proprotein convertase 1/3 deficiency | 96,397,366(-) |
T/C NM_000439.5(PCSK1):c.1692A>G (p.Ile564Met) |
MISSENSE | |
| 904442 | Uncertain Significance: Proprotein convertase 1/3 deficiency | 96,391,034(-) |
G/A NM_000439.5(PCSK1):c.*1967C>T |
THREE_PRIME_UTR | |
| 904501 | Uncertain Significance: Proprotein convertase 1/3 deficiency | 96,392,563(-) |
G/T NM_000439.5(PCSK1):c.*438C>A |
THREE_PRIME_UTR | |
| 904569 | Uncertain Significance: Proprotein convertase 1/3 deficiency | 96,400,038(-) |
G/C NM_000439.5(PCSK1):c.1345C>G (p.Leu449Val) |
MISSENSE | |
| 904570 | Uncertain Significance: Proprotein convertase 1/3 deficiency | 96,408,273(-) |
C/T NM_000439.5(PCSK1):c.1146G>A (p.Ser382=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3570258 | CNV | loss | 25503493 |
| nsv1021263 | CNV | loss | 25217958 |
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
SNP Genotyping and Copy Number Assays for research
Disorders for PCSK1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| proprotein convertase 1/3 deficiency |
|
|
| body mass index quantitative trait locus 12 |
|
|
| body mass index quantitative trait locus 11 |
|
|
| syndromic obesity |
|
|
| hypogonadism |
|
|
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 variants affecting the gene represented in this entry.
Additional Disease Information for PCSK1
- Human Genome Epidemiology Navigator
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No data available for Genatlas for PCSK1 Gene
Publications for PCSK1 Gene
- 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 40 72
- Common nonsynonymous variants in PCSK1 confer risk of obesity. (PMID: 18604207) Benzinou M … Froguel P (Nature genetics 2008) 3 4 40 72
- Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3. (PMID: 17595246) Farooqi IS … Creemers JW (The Journal of clinical endocrinology and metabolism 2007) 3 4 72
- 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
- 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
ExternalLinks
Products for PCSK1 Gene
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