Pcsk6 proprotein convertase subtilisin/kexin type 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pcsk6provided by MGI
Official Full Name: proprotein convertase subtilisin/kexin type 6provided by MGI
Primary source: MGI:MGI:102897
See related: Ensembl:ENSMUSG00000030513 AllianceGenome:MGI:102897
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: SPC4; Pace4; b2b2830Clo
Summary: Predicted to enable heparin binding activity; nerve growth factor binding activity; and serine-type endopeptidase activity. Acts upstream of or within determination of left/right symmetry; protein processing; and zygotic determination of anterior/posterior axis, embryo. Predicted to be active in several cellular components, including cell surface; collagen-containing extracellular matrix; and extracellular space. Is expressed in several structures, including alimentary system; early conceptus; genitourinary system; limb; and skeleton. Orthologous to human PCSK6 (proprotein convertase subtilisin/kexin type 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in liver adult (RPKM 17.9), cerebellum adult (RPKM 13.1) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 C; 7 35.36 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (65511884..65700134)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (65862136..66050386)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cleavage of the V-ATPase associated prorenin receptor is mediated by PACE4 and is essential for growth of prostate cancer cells.
Title: Cleavage of the V-ATPase associated prorenin receptor is mediated by PACE4 and is essential for growth of prostate cancer cells.
PCSK6 mediates Th1 differentiation and promotes chronic colitis progression and mucosal barrier injury via STAT1.
Title: PCSK6 mediates Th1 differentiation and promotes chronic colitis progression and mucosal barrier injury via STAT1.
Proprotein Convertase Subtilisin/Kexin 6 in Cardiovascular Biology and Disease.
Title: Proprotein Convertase Subtilisin/Kexin 6 in Cardiovascular Biology and Disease.
Lack of PCSK6 Increases Flow-Mediated Outward Arterial Remodeling in Mice.
Title: Lack of PCSK6 Increases Flow-Mediated Outward Arterial Remodeling in Mice.
PC7 and the related proteases Furin and Pace4 regulate E-cadherin function during blastocyst formation.
Title: PC7 and the related proteases Furin and Pace4 regulate E-cadherin function during blastocyst formation.
Mice overexpressing PACE4 exhibited tumors of increased growth rate.
Title: Enhanced aggressiveness of benzopyrene-induced squamous carcinomas in transgenic mice overexpressing the proprotein convertase PACE4 (PCSK6).
PACE4 participates in bone formation at least in osteoblast differentiation, and estrogen receptor-mediated stimuli induce osteoblast differentiation through the upregulation of PACE4 expression
Title: Estrogen stimuli promote osteoblastic differentiation via the subtilisin-like proprotein convertase PACE4 in MC3T3-E1 cells.
we observed an increased susceptibility to UV in single furin transgenic mice that was not substantially enhanced in the double furin/PACE4 transgenic mice.
Title: Enhanced UV-induced skin carcinogenesis in transgenic mice overexpressing proprotein convertases.
A variant in PCSK6 is strongly associated with protection against pain in knee osteoarthritis.
Title: A role for PACE4 in osteoarthritis pain: evidence from human genetic association and null mutant phenotype.
Furin and Pace4 are released by the extraembryonic microenvironment, and that they cleave a membrane-bound reporter substrate in adjacent epiblast cells and activate Nodal to maintain pluripotency
Title: The microenvironment patterns the pluripotent mouse epiblast through paracrine Furin and Pace4 proteolytic activities.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (2)

General gene information

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Markers

Pcsk6 (e-PCR), detects polymorphism
- UniSTS:532494

D7Mit199 (e-PCR), detects polymorphism
- UniSTS:131092

C86343 (e-PCR)
- UniSTS:165531

NoName (e-PCR)
- UniSTS:235680

NoName (e-PCR)
- UniSTS:235683

D50060 (e-PCR)
- UniSTS:124837

Pcsk6 (e-PCR), detects polymorphism
- UniSTS:498348

Pcsk6 (e-PCR), detects polymorphism
- UniSTS:498349

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables heparin binding	ISO Inferred from Sequence Orthology more info
enables nerve growth factor binding	ISO Inferred from Sequence Orthology more info
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within determination of left/right symmetry	IGI Inferred from Genetic Interaction more info	PubMed
involved_in glycoprotein metabolic process	ISO Inferred from Sequence Orthology more info
involved_in nerve growth factor production	ISO Inferred from Sequence Orthology more info
involved_in peptide hormone processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in peptide hormone processing	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein processing	ISO Inferred from Sequence Orthology more info
involved_in secretion by cell	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within zygotic determination of anterior/posterior axis, embryo	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within zygotic determination of anterior/posterior axis, embryo	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in collagen-containing extracellular matrix	ISO Inferred from Sequence Orthology more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: proprotein convertase subtilisin/kexin type 6 isoform 1

Names: paired basic amino acid cleaving system 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001291184.1 → NP_001278113.1 proprotein convertase subtilisin/kexin type 6 isoform 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC132595, AC148973, AC165968

Consensus CDS

CCDS71978.1

UniProtKB/TrEMBL

E9Q4D0, Q62030

Related

ENSMUSP00000095992.5, ENSMUST00000098391.11

Conserved Domains (8) summary

cd04059
Location:150 → 444

Peptidases_S8_Protein_convertases_Kexins_Furin-like; Peptidase S8 family domain in Protein convertases

smart00261
Location:720 → 766

FU; Furin-like repeats

cd00064
Location:672 → 724

FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.

pfam00082
Location:186 → 469

Peptidase_S8; Subtilase family

pfam01483
Location:529 → 619

P_proprotein; Proprotein convertase P-domain

pfam08686
Location:919 → 942

PLAC; PLAC (protease and lacunin) domain

pfam15913
Location:728 → 824

Furin-like_2; Furin-like repeat, cysteine-rich

pfam16470
Location:65 → 141

S8_pro-domain; Peptidase S8 pro-domain
NM_011048.1 → NP_035178.1 proprotein convertase subtilisin/kexin type 6 isoform 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC132595, AC148973, AC165968

Consensus CDS

CCDS52267.1

UniProtKB/TrEMBL

F6XJP7, Q62030

Related

ENSMUSP00000053742.6, ENSMUST00000055576.12

Conserved Domains (8) summary

cd04059
Location:150 → 444

Peptidases_S8_Protein_convertases_Kexins_Furin-like; Peptidase S8 family domain in Protein convertases

smart00261
Location:733 → 779

FU; Furin-like repeats

cd00064
Location:685 → 737

FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.

pfam00082
Location:186 → 469

Peptidase_S8; Subtilase family

pfam01483
Location:529 → 619

P_proprotein; Proprotein convertase P-domain

pfam08686
Location:932 → 955

PLAC; PLAC (protease and lacunin) domain

pfam15913
Location:741 → 837

Furin-like_2; Furin-like repeat, cysteine-rich

pfam16470
Location:65 → 141

S8_pro-domain; Peptidase S8 pro-domain