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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 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: PCSK5
Protein SuperFamily: proprotein convertase, subtilisin/kexin type
Gene Tree: Pcsk5

Human
homologs
PCSK5, proprotein convertase subtilisin/kexin type 5
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5125
neXtProt AC: NX_Q92824

Human Synonyms: PC5, PC6, PC6A, SPC6

Human Chr (Location): 9q21.3; chr9:75890601-76362339 (+)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Chemically induced (ENU)(3) Gene trapped(1) Targeted(7)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Pcsk5 (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(25)
Interactions
Pcsk5 interacts with 380 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
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 (122)    Tissues (81)    Images (8)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 1
RNA in situ 72
RT-PCR 49
cDNA source data(35)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA PCSK5 ; Xenbase pcsk5 ; ZFIN pcsk5a, pcsk5b    NEW 
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 Phenotyping Consortium Status Pcsk5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 18552 NCBI Gene Model | MGI Sequence Detail 404801 C57BL/6J ±  kb
transcript NM_001190483 RefSeq | MGI Sequence Detail 7193 C57BL/6 
polypeptide Q04592 UniProt | EBI | MGI Sequence Detail 1877 Not Applicable 

For the selected sequences
All sequences(37) RefSeq(13) UniProt(2)
Polymorphisms
RFLP(1) : SNPs within 2kb(5922 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000742 EGF-like domain
InterPro IPR006212 Furin-like repeat
InterPro IPR008979 Galactose-binding domain-like
InterPro IPR009030 Insulin-like growth factor binding protein, N-terminal
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 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:222159 Li Y, et al., Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Nature. 2015 May 28;521(7553):520-4
All references(62)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-13195, MGI:5313703, MGI:5430337

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
08/25/2015
MGI 6.0
The Jackson Laboratory