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Pcsk1
Gene Detail
Symbol

Name
ID
Pcsk1
proprotein convertase subtilisin/kexin type 1
MGI:97511
Synonyms
Nec1, Nec-1, PC1, PC3, Phpp-1, prohormone convertase 1/3, SPC3
Feature Type
protein coding gene
Genetic Map
Chromosome 13
40.63 cM, cytoband C2
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr13:75089826-75132498 bp, + strand
From VEGA annotation of GRCm38

  42673 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:379  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: proprotein convertase, subtilisin/kexin type
Gene Tree: Pcsk1

Human
homologs
Human Homolog PCSK1, proprotein convertase subtilisin/kexin type 1
NCBI Gene ID 5122
neXtProt AC  NX_P29120
Human Synonyms  BMIQ12, NEC1, PC1, PC3, SPC3
Human Chr (Location)  5q15-q21; chr5:96390336-96433281 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human PCSK1
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Chemically induced (ENU)(1) Gene trapped(1) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a null allele show pre- and postnatal death, low weight, diarrhea, hypoglycemia, low insulin and GHRH levels, and lack mature glucagon and ACTH levels. Homozygotes for another null allele die prior to implantation. ENU mutants show obesity, polyphagia and higher metabolic efficiency.
 
Human Diseases Modeled Using Mouse Pcsk1 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Pcsk1 interacts with 51 markers (Mir32, Mir101a, Mir101b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process peptide biosynthetic process, peptide hormone processing, ...
Component cytoplasmic vesicle, extracellular space, ...
Function endopeptidase activity, hydrolase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (26 records)
Data Summary: Results (139)    Tissues (127)    Images (41)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 34
RNA in situ 95
Western blot 4
RT-PCR 6
cDNA source data(15)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(28) Genomic(10) cDNA(16) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000026053 (Evidence)
Ensembl Gene ModelENSMUSG00000021587 (Evidence)
Entrez Gene18548 (Evidence)
DFCITC1585985
DoTSDT.103554941, DT.55164295
NIA Mouse Gene IndexU015024, U283375
EC3.4.21.93
PDB2KDT, 1KN6, 2KE3
Consensus CDS ProjectCCDS26649.1
International Mouse Knockout Project StatusPcsk1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026053 VEGA Gene Model | MGI Sequence Detail 42673 C57BL/6J ±  kb
transcript OTTMUST00000064311 VEGA | MGI Sequence Detail 2677 Not Applicable 
polypeptide OTTMUSP00000031918 VEGA | MGI Sequence Detail 753 Not Applicable 

For the selected sequences
All sequences(34) RefSeq(8) UniProt(3)
Polymorphisms
RFLP(1) : SNPs within 2kb(396 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008979 Galactose-binding domain-like
InterPro IPR000209 Peptidase S8/S53 domain
InterPro IPR023827 Peptidase S8, subtilisin, Asp-active site
InterPro IPR022398 Peptidase S8, subtilisin, His-active site
InterPro IPR015500 Peptidase S8, subtilisin-related
InterPro IPR023828 Peptidase S8, subtilisin, Ser-active site
InterPro IPR022005 Prohormone convertase enzyme
InterPro IPR002884 Proprotein convertase, P
InterPro IPR009020 Proteinase inhibitor, propeptide
Protein Ontology PR:000012433 neuroendocrine convertase 1
References
(Earliest) J:10744 Seidah NG, et al., cDNA sequence of two distinct pituitary proteins homologous to Kex2 and furin gene products: tissue-specific mRNAs encoding candidates for pro-hormone processing proteinases [published erratum appears in DNA Cell Biol 1990 Dec;9(10):789]. DNA Cell Biol. 1990 Jul-Aug;9(6):415-24
(Latest) J:214324 Prabhu Y, et al., Defective transport of the obesity mutant PC1/3 N222D contributes to loss of function. Endocrinology. 2014 Jul;155(7):2391-401
All references(106)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-12802, MGD-MRK-12804, MGD-MRK-13191, MGD-MRK-13299

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory