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Klk1 kallikrein 1 [ Mus musculus (house mouse) ]

Gene ID: 16612, updated on 12-Aug-2018

Summary

Official Symbol
Klk1provided by MGI
Official Full Name
kallikrein 1provided by MGI
Primary source
MGI:MGI:102850
See related
Ensembl:ENSMUSG00000063903 Vega:OTTMUSG00000058322
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

Genomic context

See Klk1 in Genome Data Viewer
Location:
7 B3; 7 28.74 cM
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 7 NC_000073.6 (44225360..44229622)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (51480807..51484987)

Chromosome 7 - NC_000073.6Genomic Context describing neighboring genes Neighboring gene kallikrein 1-related pepidase b4 Neighboring gene kallikrein 1-related peptidase b5 Neighboring gene predicted gene 10109 Neighboring gene RIKEN cDNA 1700028J19 gene Neighboring gene predicted gene, 36864

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
endopeptidase activity ISO
Inferred from Sequence Orthology
more info
 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides ISO
Inferred from Sequence Orthology
more info
 
peptidase activity IEA
Inferred from Electronic Annotation
more info
 
serine-type endopeptidase activity ISO
Inferred from Sequence Orthology
more info
 
serine-type peptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of systemic arterial blood pressure IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zymogen activation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular space ISO
Inferred from Sequence Orthology
more info
 
protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
secretory granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
kallikrein-1
Names
glandular kallikrein K1
kallikrein renal/pancreas/salivary
tissue kallikrein-6
true tissue kallikrein
NP_001307260.1
NP_001307261.1
NP_034769.4

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001320331.1NP_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:24209
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:25209
    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 ...
  2. NM_001320332.1NP_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/Swiss-Prot
    P15947
    Related
    ENSMUSP00000146057.1, OTTMUSP00000075194, ENSMUST00000206144.1, OTTMUST00000144199
    Conserved Domains (2) summary
    smart00020
    Location:15151
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:13154
    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 ...
  3. NM_010639.8NP_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
    UniProtKB/TrEMBL
    A0A0B6VSQ6
    Related
    ENSMUSP00000074659.3, OTTMUSP00000074667, ENSMUST00000075162.4, OTTMUST00000143209
    Conserved Domains (1) summary
    smart00020
    Location:24253
    Tryp_SPc; Trypsin-like serine protease

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000073.6 Reference GRCm38.p4 C57BL/6J

    Range
    44225360..44229622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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