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FLASH GENE

Symbol

KLK1

contributors: mct - updated : 16-04-2020

HGNC name	kallikrein 1
HGNC id	6357

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   decreased in renal clear cell carcinoma constitutional     --low   decreased KLK1 expression in Chronic obstructive pulmonary disease (COPD) patients could contribute to the worsening of influenza constitutional       gain of function in tubular epithelial cells that may mediate pro-inflammatory pathway and F2RL3 activation during diabetic nephropathy constitutional     --over   by astrocytes in the hippocampus of patients with refractory temporal lobe epilepsy, associated with hippocampal sclerosis

Susceptibility

to hypertension and/or hypertension asociated with end- stage renal disease to aortic aneurysm (AA) to coronary artery stenosis (CAS)

Variant & Polymorphism SNP	KLK1 rs5516 G allele is closely associated with AA
	polymorphism of the KLK1 A1789G gene is associated with CAS

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed reproduction fertility   targets for the treatment of azoospermia

ANIMAL & CELL MODELS

inactivating the Klk1 gene or treating WT mice with an anti-Klk1 monoclonal antibody to remove Klk1 activity accelerated the initial virus-induced apoptotic depletion of alveolar macrophages