KLK1 kallikrein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLK1provided by HGNC
Official Full Name: kallikrein 1provided by HGNC
Primary source: HGNC:HGNC:6357
See related: Ensembl:ENSG00000167748 MIM:147910; AllianceGenome:HGNC:6357
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: hK1; KLKR; Klk6
Summary: Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. This protein is functionally conserved in its capacity to release the vasoactive peptide, Lys-bradykinin, from low molecular weight kininogen. [provided by RefSeq, Jul 2008]
Expression: Biased expression in salivary gland (RPKM 569.2) and pancreas (RPKM 508.7) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (50819146..50823787, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (53908789..53913431, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (51322402..51327043, complement)

Chromosome 19 - NC_000019.10 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Kallikrein directly interacts with and activates Factor IX, resulting in thrombin generation and fibrin formation independent of Factor XI.
Title: Kallikrein directly interacts with and activates Factor IX, resulting in thrombin generation and fibrin formation independent of Factor XI.
Coexpression of tissue kallikrein 1 and tissue inhibitor of matrix metalloproteinase 1 improves myocardial ischemiareperfusion injury by promoting angiogenesis and inhibiting oxidative stress.
Title: Co‑expression of tissue kallikrein 1 and tissue inhibitor of matrix metalloproteinase 1 improves myocardial ischemia‑reperfusion injury by promoting angiogenesis and inhibiting oxidative stress.
Associations of ACE I/D polymorphism with the levels of ACE, kallikrein, angiotensin II and interleukin-6 in STEMI patients.
Title: Associations of ACE I/D polymorphism with the levels of ACE, kallikrein, angiotensin II and interleukin-6 in STEMI patients.
these findings showed that oxidative stress, impaired corpus cavernosum endothelial cells, and severe penis fibrosis were involved in the induction of erectile dysfunction by hyperhomocysteinemia in rats, whereas hKLK1 preserved erectile function by inhibiting these pathophysiological changes
Title: Human tissue kallikrein-1 protects against the development of erectile dysfunction in a rat model of hyperhomocysteinemia.
kallikrein has an apple domain disc with a rotated conformation compared to factor XI
Title: Plasma kallikrein structure reveals apple domain disc rotated conformation compared to factor XI.
The findings indicate that KLK1 intervenes early in the antiviral defense modulating the severity of influenza infection. Decreased KLK1 expression in Chronic obstructive pulmonary disease patients could contribute to the worsening of influenza.
Title: Tissue kallikrein regulates alveolar macrophage apoptosis early in influenza virus infection.
Letter: KLK1 (rs5516) was associated with thoracic aortic dissection.
Title: Analysis of KLK1 polymorphism (rs5516) in patients with abdominal aortic aneurysm or thoracic aortic dissection.
Our findings suggest that the A2233C polymorphism of KLK1 may be a marker of evaluation of hypertensive subjects' responses to angiotensin I converting enzyme inhibitors benazepril.
Title: A positive association between the human tissue kallikerin gene A2233C polymorphism and blood pressure response to benazepril.
Recognition of anti-tumor necrosis factor-alpha (TNF-alpha) or Kallikrein Inhibitor may lead to therapeutics to enhance existing treatments for patients who do not respond to anti-vascular endothelial growth factor (VEGF) therapies.
Title: Moving Past Anti-VEGF: Novel Therapies for Treating Diabetic Retinopathy.
increasing the serum levels of AngII increased the risk of acute myocardial infarction (AMI); the risk of AMI increased when the serum levels of AngII and KLK1 simultaneously increased; individuals with the combined genotypes of ACE DD and KLK1 GG showed increased risk of AMI compared with those with the combined genotypes of ACE II and KLK1 AA
Title: Association of serum levels of AngII, KLK1, and ACE/KLK1 polymorphisms with acute myocardial infarction induced by coronary artery stenosis.

Submit: New GeneRIF Correction See all GeneRIFs (82)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Kallikrein, decreased urinary activity of MedGen: C1835808 OMIM: 615953 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables serine-type endopeptidase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
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 extracellular exosome	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
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 1; kallikrein 1, renal/pancreas/salivary; kallikrein serine protease 1; kidney/pancreas/salivary gland kallikrein; tissue kallikrein

NP_002248.1

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.

Genomic

NG_012094.1 RefSeqGene

Range

5001..9642

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002257.4 → NP_002248.1 kallikrein-1 preproprotein

See identical proteins and their annotated locations for NP_002248.1

Status: REVIEWED

Source sequence(s)

BP323011, CA772631, X13561

Consensus CDS

CCDS12804.1

UniProtKB/Swiss-Prot

P06870, Q66US9, Q86U61, Q8TCV8, Q9BS53, Q9NQU4, Q9UD19, Q9UMJ1

UniProtKB/TrEMBL

A0A1L2BPJ1, A0A1R3UCD2

Related

ENSP00000301420.1, ENST00000301420.3

Conserved Domains (1) summary

cd00190
Location:25 → 257

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 ...