Klk1 kallikrein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Klk1provided by MGI
Official Full Name: kallikrein 1provided by MGI
Primary source: MGI:MGI:102850
See related: Ensembl:ENSMUSG00000063903 AllianceGenome:MGI:102850
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Kal; Klk6; KAL-B; mGk-6; Klk1b6; 0610007D04Rik
Summary: This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded preproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. Mice lacking the encoded protein are unable to generate significant levels of kinins in most tissues, develop cardiovascular abnormalities and exhibit hypercalciuria of renal origin. This gene is located in a cluster of several related kallikrein genes on chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, Feb 2016]
Expression: Biased expression in kidney adult (RPKM 1758.5), colon adult (RPKM 1588.3) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B3; 7 28.74 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (43874784..43879046)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (44225360..44229622)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

tissue kallikrein knockout mice had a significant two-fold increase in albuminuria
Title: Kallikrein protects against microalbuminuria in experimental type I diabetes.
Tissue kallikrein and kinins do not influence the trophicity of kidneys, the synthesis and secretion of renin, blood pressure increase, and cardiac remodeling due to renin angiotensin system activation.
Title: Tissue kallikrein deficiency and renovascular hypertension in the mouse.
TK, like several other proteases, can activate ENaC in the kidney and the colon.
Title: Defective ENaC processing and function in tissue kallikrein-deficient mice.
Protective effects of Tissue kallikrein gene transfer on ischemic diseases.
Title: Regional and global protective effects of tissue kallikrein gene delivery to the peri-infarct myocardium.
Polypeptides identified based on immunorecognition by autoantibodies in sera from IQI/Jic mice affected with autoimmune disease (>12 weeks of age) were tissue kallikrein (Klk)-1 and -13 and were cross-reactive to the autoantibodies.
Title: Autoimmunity against a tissue kallikrein in IQI/Jic Mice: a model for Sjogren's syndrome.
The study suggests that kallikrein plays an antihypertensive role in hyperaldosteronism.
Title: Antihypertensive role of tissue kallikrein in hyperaldosteronism in the mouse.
These data do not support a role for the TK-kinin system, protective or deleterious, in the development of insulin resistance and diabetes.
Title: Tissue kallikrein deficiency, insulin resistance, and diabetes in mouse and man.
Lower excretion of active renin and prorenin in TK(-/-) compared to TK(+/+) suggest coordinated regulation of the two proteins in their participation to collecting duct function.
Title: Renin and kallikrein in connecting tubule of mouse.
Plasma kallikrein-deficient mice challenged with transient middle cerebral artery occlusion developed significantly smaller brain infarctions.
Title: Blocking of plasma kallikrein ameliorates stroke by reducing thromboinflammation.
Local expression of kallikreins within the kidney has the capacity to dampen lupus nephritis, possibly by modulating inflammation and oxidative stress.
Title: Inducible expression of kallikrein in renal tubular cells protects mice against spontaneous lupus nephritis.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Variation

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Alleles

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

Targeted (1) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

Klk1 (e-PCR), detects polymorphism
- UniSTS:164688

Klk1 (e-PCR), detects polymorphism
- UniSTS:143698

Klk6 (e-PCR), detects polymorphism
- UniSTS:143699

Klk6 (e-PCR), detects polymorphism
- UniSTS:143700

PMC30190P1 (e-PCR)
- UniSTS:272480

Ngfa (e-PCR), detects polymorphism
- UniSTS:144010

Klk1b5 (e-PCR), detects polymorphism
- UniSTS:507383

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	ISO Inferred from Sequence Orthology more info
enables peptidase activity	IEA Inferred from Electronic Annotation more info
enables serine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables serine-type peptidase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of systemic arterial blood pressure	IBA Inferred from Biological aspect of Ancestor more info
involved_in zymogen activation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	ISO Inferred from Sequence Orthology more info
located_in apical part of cell	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
is_active_in secretory granule	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: kallikrein-1

Names: glandular kallikrein K1; kallikrein renal/pancreas/salivary; tissue kallikrein-6; true tissue kallikrein

NP_001307260.1

EC 3.4.21.35

NP_001307261.1

EC 3.4.21.35

NP_034769.4

EC 3.4.21.35

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_001320331.1 → NP_001307260.1 kallikrein-1 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1. This isoform (2) may undergo proteolytic processing simlar to isoform 1.

Source sequence(s)

AC124176, AK002278, AV053449, BY087276

UniProtKB/Swiss-Prot

P15947

Conserved Domains (2) summary

smart00020
Location:24 → 209

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:25 → 209

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
NM_001320332.1 → NP_001307261.1 kallikrein-1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 3, which has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC124176, AK002278, AV053449, BY087276

UniProtKB/TrEMBL

A0A0U1RPN5

Related

ENSMUSP00000146057.2, ENSMUST00000206144.2

Conserved Domains (2) summary

smart00020
Location:15 → 151

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:13 → 154

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
NM_010639.8 → NP_034769.4 kallikrein-1 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_034769.4

Status: REVIEWED

Description

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

Source sequence(s)

AC124176, AK002278, AV053449, BY087276

Consensus CDS

CCDS21202.1

UniProtKB/Swiss-Prot

P15947, Q61855

UniProtKB/TrEMBL

A0A0B6VSQ6, A0A1R3UCI2

Related

ENSMUSP00000074659.4, ENSMUST00000075162.5

Conserved Domains (1) summary

smart00020
Location:24 → 253

Tryp_SPc; Trypsin-like serine protease