Pcsk5
Gene Detail

Symbol Name ID

Pcsk5 proprotein convertase subtilisin/kexin type 5 MGI:97515

Synonyms

b2b1549Clo, b2b585Clo, PC5/6A, PC5A, PC6, SPC6

Feature Type

protein coding gene

Genetic Map

Chromosome 19

12.86 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)

Sequence Map

Chr19:17432832-17837632 bp, - strand From NCBI annotation of GRCm38   404801 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:21244  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: proprotein convertase, subtilisin/kexin type
Gene Tree: Pcsk5

Human homologs

Human Homolog		PCSK5, proprotein convertase subtilisin/kexin type 5
NCBI Gene ID		5125
neXtProt AC		NX_Q92824
Human Synonyms		PC5, PC6, PC6A, SPC6
Human Chr (Location)		9q21.3; chr9:78505560-78977255 (+)  GRCh37.p10

Alleles and phenotypes

All alleles(10) : Targeted(6) Gene trapped(1) Chemically induced(3)
 

Mice homozygous for a null mutation in this gene display embryonic lethality between E4.5-E7.5. Mice homozygous for ENU-induced mutations exhibit heterotaxia with congenital heart defects and immotile respiratory cilia.

 
Human Diseases Modeled Using Mouse Pcsk5 (3)    Alleles Annotated to Human Diseases(3)    Phenotype Images(25)

Gene Ontology (GO) classifications

All GO classifications: (37 annotations)

Process	anterior/posterior pattern specification, cytokine biosynthetic process, ...
Component	extracellular region, extracellular space, ...
Function	endopeptidase activity, hydrolase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (15 records)
Data Summary: Results (126)    Tissues (85)    Images (8)
Theiler Stages: 1, 2, 3, 4, 5, 11, 13, 15, 17, 19, 22, 23, 26, 28

Assay Type	Results
Immunohistochemistry	1
RNA in situ	72
RT-PCR	53

cDNA source data(35)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(41) cDNA(37) Primer pair(4)
Microarray probesets(7)

Other database links

Ensembl Gene Model	ENSMUSG00000024713 (Evidence)
Entrez Gene	18552 (Evidence)
UniGene	3401
DFCI	TC1584491, TC1604566, TC1616663
DoTS	DT.101267939, DT.110857844, DT.489335
NIA Mouse Gene Index	U038896
EC	3.4.21.-
Consensus CDS Project	CCDS50401.1, CCDS50402.1
International Mouse Knockout Project Status	Pcsk5

Sequences

Length	Strain/Species
genomic	18552	NCBI Gene Model | MGI Sequence Detail	404801	C57BL/6J
transcript	NM_001190483	RefSeq | MGI Sequence Detail	6675	C57BL/6
polypeptide	Q04592	UniProt | EBI | MGI Sequence Detail	1877	Not Applicable

All sequences(28) RefSeq(4) UniProt(2)

Polymorphisms

RFLP(1) : SNPs(4150 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000742	Epidermal growth factor-like domain
InterPro	IPR006212	Furin-like repeat
InterPro	IPR008979	Galactose-binding domain-like
InterPro	IPR009030	Growth factor, receptor
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	IPR010909	PLAC
InterPro	IPR002884	Proprotein convertase, P
InterPro	IPR009020	Proteinase inhibitor, propeptide
Protein Ontology	PR:000012437	proprotein convertase subtilisin/kexin type 5

Graphical View of Protein Domain Structure

References

(Earliest) J:13205 Lusson J, et al., cDNA structure of the mouse and rat subtilisin/kexin-like PC5: a candidate proprotein convertase expressed in endocrine and nonendocrine cells. Proc Natl Acad Sci U S A. 1993 Jul 15;90(14):6691-5
(Latest) J:175584 Tsuda T, et al., PCSK5 and GDF11 Expression in the Hindgut Region of Mouse Embryos with Anorectal Malformations. Eur J Pediatr Surg. 2011 Aug;21(4):238-41
All references(60)

Other accession IDs

MGD-MRK-13195, MGI:5313703, MGI:5430337