Spink5 serine peptidase inhibitor, Kazal type 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Spink5provided by MGI
Official Full Name: serine peptidase inhibitor, Kazal type 5provided by MGI
Primary source: MGI:MGI:1919682
See related: Ensembl:ENSMUSG00000055561 AllianceGenome:MGI:1919682
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: LEKT1; LETK1; VAKT1; 2310065D10Rik
Summary: Enables peptidase inhibitor activity. Acts upstream of or within negative regulation of serine-type peptidase activity and regulation of cell adhesion. Predicted to be located in several cellular components, including endoplasmic reticulum membrane; epidermal lamellar body; and perinuclear region of cytoplasm. Predicted to be active in extracellular region. Is expressed in back skin. Used to study Netherton syndrome. Human ortholog(s) of this gene implicated in Netherton syndrome. Orthologous to human SPINK5 (serine peptidase inhibitor Kazal type 5). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward genital fat pad adult (RPKM 9.9) See more
Orthologs: human all
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Genomic context

Location:: 18 B3; 18 23.74 cM

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (44092612..44155554)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (43959545..44022487)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways.
Title: Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways.
Spink5/Par2 double knockout (DKO) mice, at embryonic day 19.5, display a dramatic decrease in TSLP expression, although stratum corneum detachment persists, confirming the role of the KLK5-PAR2 cascade in TSLP-mediated early proallergic signaling
Title: Par2 inactivation inhibits early production of TSLP, but not cutaneous inflammation, in Netherton syndrome adult mouse model.
key regulator of epidermal protease activity
Title: Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity.
Mouse Spink5/Lekti, like its human counterpart, is involved in the control of epithelial tissue homeostasis.
Title: Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome.

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Variation

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Alleles

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

Chemically induced (ENU) (1)
Endonuclease-mediated (4) 1 citation
Targeted (3) 1 citation
Transposon induced (1) 1 citation

General gene information

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Markers

Spink5 (e-PCR), detects polymorphism
- UniSTS:502673

AV238912 (e-PCR)
- UniSTS:166095

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables peptidase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables serine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase inhibitor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in epidermal cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of proteolysis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of serine-type peptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell cortex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in epidermal lamellar body	ISO Inferred from Sequence Orthology more info
is_active_in extracellular region	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: serine protease inhibitor Kazal-type 5

Names: Netherton syndrome; serine protease inhibitor, Kazal type 5

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_001081180.1 → NP_001074649.1 serine protease inhibitor Kazal-type 5 precursor

See identical proteins and their annotated locations for NP_001074649.1

Status: VALIDATED

Source sequence(s)

AC138293

Consensus CDS

CCDS37805.1

UniProtKB/TrEMBL

Q148R4, Q5K5D4

Related

ENSMUSP00000066214.8, ENSMUST00000069245.8

Conserved Domains (3) summary

smart00280
Location:573 → 613

KAZAL; Kazal type serine protease inhibitors

cd01327
Location:953 → 996

KAZAL_PSTI; Kazal-type pancreatic secretory trypsin inhibitors (PSTI) and related proteins, including the second domain of the ovomucoid turkey inhibitor and the C-terminal domain of the esophagus cancer-related gene-2 protein (ECRG-2), are members of the ...

cl00097
Location:783 → 821

KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000084.7 Reference GRCm39 C57BL/6J

Range

44092612..44155554

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006526279.5 → XP_006526342.1 serine protease inhibitor Kazal-type 5 isoform X1

See identical proteins and their annotated locations for XP_006526342.1

UniProtKB/TrEMBL

Q148R4, Q5K5D4

Conserved Domains (3) summary

smart00280
Location:573 → 613

KAZAL; Kazal type serine protease inhibitors

cd01327
Location:953 → 996

KAZAL_PSTI; Kazal-type pancreatic secretory trypsin inhibitors (PSTI) and related proteins, including the second domain of the ovomucoid turkey inhibitor and the C-terminal domain of the esophagus cancer-related gene-2 protein (ECRG-2), are members of the ...

cl00097
Location:783 → 821

KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...
XM_006526280.5 → XP_006526343.1 serine protease inhibitor Kazal-type 5 isoform X1

See identical proteins and their annotated locations for XP_006526343.1

UniProtKB/TrEMBL

Q148R4, Q5K5D4

Conserved Domains (3) summary

smart00280
Location:573 → 613

KAZAL; Kazal type serine protease inhibitors

cd01327
Location:953 → 996

KAZAL_PSTI; Kazal-type pancreatic secretory trypsin inhibitors (PSTI) and related proteins, including the second domain of the ovomucoid turkey inhibitor and the C-terminal domain of the esophagus cancer-related gene-2 protein (ECRG-2), are members of the ...

cl00097
Location:783 → 821

KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...