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 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 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; chr5:95726040-95768985 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PCSK1

Alleles and phenotypes

All alleles(6) : Targeted(4) Gene trapped(1) Chemically induced(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (32 annotations)

Process	metabolic process, peptide biosynthetic process, ...
Component	axon terminus, cytoplasmic vesicle, ...
Function	chaperone binding, endopeptidase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (25 records)
Data Summary: Results (142)    Tissues (128)    Images (39)
Theiler Stages: 1, 2, 3, 4, 5, 10, 14, 18, 21, 22, 23, 25, 28

Assay Type	Results
Immunohistochemistry	33
RNA in situ	95
Western blot	4
RT-PCR	10

cDNA source data(17)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(30) Genomic(10) cDNA(18) Primer pair(2)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000026053 (Evidence)
Ensembl Gene Model	ENSMUSG00000021587 (Evidence)
Entrez Gene	18548 (Evidence)
UniGene	1333
DFCI	TC1585985
DoTS	DT.55164295
NIA Mouse Gene Index	U015024
EC	3.4.21.93
PDB	2KDT, 1KN6, 2KE3
Consensus CDS Project	CCDS26649.1
International Mouse Knockout Project Status	Pcsk1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000026053	VEGA Gene Model | MGI Sequence Detail	42673	C57BL/6J
transcript	OTTMUST00000064311	VEGA | MGI Sequence Detail	2677	Not Applicable
polypeptide	OTTMUSP00000031918	VEGA | MGI Sequence Detail	753	Not Applicable

All sequences(24) RefSeq(2) UniProt(2)

Polymorphisms

RFLP(1) : SNPs(369 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR008979	Galactose-binding domain-like
InterPro	IPR000209	Peptidase S8/S53, subtilisin/kexin/sedolisin
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:192432 Chavez-Valdez R, et al., Necrostatin-1 attenuates mitochondrial dysfunction in neurons and astrocytes following neonatal hypoxia-ischemia. Neuroscience. 2012 Sep 6;219:192-203
All references(103)

Other accession IDs

MGD-MRK-12802, MGD-MRK-12804, MGD-MRK-13191, MGD-MRK-13299